Rare Kidney Disease Directory

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This resource provides a list of rare kidney diseases, categorized and linked to their corresponding Orphanet codes (where possible). Click on a category to explore the diseases within it, then follow the links to view the relevant disease information on the Orphanet website.

This list was developed by combining diseases with the Orphanet classification of “Rare renal disease” with those listed on the European Rare Kidney disease registry. Disease terms on this combined list were then cross-checked against the Groopman list and a brief review of the literature was undertaken to confirm that there was a reported kidney disease association for all diseases on the list. The disease was removed from the list if a reported association could not be found.

Given the complexity around rare kidney diseases, if you have any feedback or suggestions, please contact [email protected].

GENETIC CYSTIC RENAL DISEASE ORPHA:93587

  • Adult familial nephronophthisis-spastic quadriparesia syndrome ORPHA:2666
  • Adult dominant polycystic kidney disease ORPHA:730
  • Adult dominant polycystic kidney disease type 1 with tuberous sclerosis ORPHA:88924
  • Autosomal dominant tubulointerstitial kidney disease ORPHA:34149
    • HNF1B-related autosomal dominant tubulointerstitial kidney disease ORPHA:93111
    • MUC1-related autosomal dominant tubulointerstitial kidney disease ORPHA:88949
    • REN-related autosomal dominant tubulointerstitial kidney disease ORPHA:217330
    • UMOD-related autosomal dominant tubulointerstitial kidney disease ORPHA:88950
  • Autosomal recessive polycystic kidney disease (ARPKD) ORPHA:731
  • Bardet-Biedl syndrome ORPHA:110
  • Cranioectodermal dysplasia ORPHA:1515
  • Ellis Van Creveld syndrome ORPHA:289
  • Hepatic fibrosis-renal cysts-intellectual disability syndrome ORPHA:2031
  • Joubert syndrome with oculorenal defect ORPHA:2318
  • Joubert syndrome with renal defect ORPHA:220497
  • Karyomegalic interstitial nephritis ORPHA:401996
  • Meckel syndrome ORPHA:564
  • Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome ORPHA:79118
  • Nephronophthisis ORPHA:655
  • Renal-hepatic-pancreatic dysplasia ORPHA:294415
  • RHYNS syndrome ORPHA:140976
  • Saldino-Mainzer syndrome ORPHA:140969
  • Senior-Boichis syndrome ORPHA:84081
  • Senior-Loken syndrome ORPHA:3156
  • Tuberous sclerosis complex ORPHA:805
  • Ventriculomegaly-cystic kidney disease ORPHA:443988
  • Von Hippel-Lindau disease ORPHA:892

GLOMERULAR DISEASES

Hematological Disorder with renal involvement ORPHA:93614

inherited renal cancer-predisposing syndrome ORPHA:319328

  • Beckwith Wiedemann syndrome ORPHA:116
    • Beckwith Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
    • Beckwith Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
    • Beckwith Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
    • Beckwith Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
    • Beckwith Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
    • Beckwith Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
  • Birt-Hogg-Dubé syndrome ORPHA:122
  • Familial papillary thyroid carcinoma with renal papillary neoplasia ORPHA:97290
  • Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome ORPHA:404476
  • Hereditary clear cell renal cell carcinoma ORPHA:422526
  • Hereditary leiomyomatosis and renal cell cancer ORPHA:523
  • Hereditary papillary renal cell carcinoma ORPHA:47044
  • Hyperparathyroidism-jaw tumor syndrome ORPHA:99880
  • Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations ORPHA:319462
  • Perlman syndrome ORPHA:2849
  • Tuberous sclerosis complex ORPHA:805
  • Von Hippel-Lindau disease ORPHA:892
  • WAGR syndrome ORPHA:893

Nephropathy secondary to a storage or other metabolic disorder ORPHA:93593

RAre CAUSE OF HYPERTENSION ORPHA:93618

RAre Renal tubular disease ORPHA:93603

  • Alström syndrome ORPHA:64
  • Acquired monoclonal Ig light chain-associated Fanconi syndrome ORPHA:91136
  • Arginine vasopressin resistance (Nephrogenic Diabetes insipidus) ORPHA:223
  • Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome (Nephrogenic diabetes insipidus-intracranial calcification- short stature-facial dysmorphism syndrome) ORPHA:3145
  • Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome ORPHA:544628
  • Autosomal dominant primary hypomagnesemia with hypocalciuria ORPHA:34528
  • Bartter syndrome
  • Cataract-nephropathy-encephalopathy syndrome ORPHA:1380
  • Cystinuria type A ORPHA:93612
  • Cystinuria type B ORPHA:93613
  • Dominant hypophosphatemia with nephrolithiasis or osteoporosis ORPHA:244305
  • EAST syndrome ORPHA:19943
  • EGF-related primary hypomagnesemia with intellectual disability ORPHA:620368
  • Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation ORPHA:620371
  • Gitelman syndrome ORPHA:358
  • Hereditary renal hypouricemia ORPHA:94088
  • Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation ORPHA:324525
  • Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ORPHA:363694
  • Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-icthyosis-xerostoia syndrome ORPHA:528105
  • Hypophosphatemic rickets ORPHA:437
  • Hypotonia-cystinuria type 1 syndrome ORPHA:238517
  • Idiopathic hypercalciuria ORPHA:2197
  • Isolated autosomal dominant hypomagnesemia, Glaudemans type ORPHA:199326
  • Jeune syndrome ORPHA:474
  • Kidney tubulopathy-dilated cardiomyopathy syndrome ORPHA:73224
  • Mitochondrial DNA depletion syndrome, hepatocerebrorenal form ORPHA:363534
  • Nephrogenic syndrome of inappropriate diuresis
  • Oculocerebrorenal syndrome of Lowe ORPHA:534
  • Oncogenic osteomalacia ORPHA:352540
  • Primary Fanconi renotubular syndrome ORPHA:3337
  • Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome ORPHA:620363
  • Primary Hypomagnesemia-refractory seizures-intellectual disability syndrome ORPHA:564178
  • Primary hypomagnesemia with hypercalciuria and nephrocalcinosis ORPHA:306516
  • Primary hypomagnesemia with secondary hypocalcemia ORPHA:30924
  • Renal Tubular Acidosis
    • Proximal renal tubular acidosis ORPHA:47159
    • Distal renal tubular acidosis ORPHA:18
    • Osteopetrosis with renal tubular acidosis ORPHA:2785
    • Central nervous system calcification-deafness-tubular acidosis- anemia syndrome
  • Pseudohypoaldosteronism ORPHA:444916
  • Pseudohypoparathyroidism ORPHA:97593
    • With and Without Albright hereditary osteodystrophy
  • Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome ORPHA:505242
  • Tubulointerstitial nephritis and uveitis syndrome ORPHA:91500

RAre renal tumor ORPHA:93619

Non-syndromic renal or urinary tract malformation ORPHA:93546

Syndromic Renal or urinary tract malformation ORPHA:93547

  • 22q11.2 deletion syndrome (DiGeorge syndrome) ORPHA:567
  • 8q24.3 microdeletion syndrome ORPHA:508488
  • Acrorenal syndrome ORPHA:971
  • Alagille syndrome due to 20p12 microdeletion ORPHA:261600
  • Alagille syndrome due to a JAG1 point mutation ORPHA:261619
  • Alagille syndrome due to a NOTCH2 point mutation ORPHA:261629
  • Aniridia-renal agenesis-psychomotor retardation syndrome ORPHA:1064
  • AREDYLD syndrome ORPHA:1133
  • Arthrogryposis-renal dysfunction-cholestasis syndrome ORPHA:2697
  • Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome ORPHA:1192
  • Axial mesodermal dysplasia spectrum ORPHA:1834
  • Bardet-Biedl syndrome (renal/urinary tract malformation) – types 1-12, 17-19
  • Beckwith-Wiedemann syndrome
  • BNAR (Bifid nose, anorectal and renal anomalies) syndrome
  • BOR syndrome ORPHA:107
  • Cat-eye syndrome ORPHA:195
  • Caudal regression syndrome ORPHA:3027
  • CHARGE syndrome ORPHA:138
  • Congenital vertebral-cardiac-renal anomalies syndrome ORPHA:521438
  • Cornelia de Lange syndrome ORPHA:199
  • Cystic hamartoma of lung and kidney ORPHA:2111
  • Double uterus-hemivagina-renal agenesis syndrome ORPHA:3411
  • EEC syndrome ORPHA:1896
  • Ellis Van Creveld syndrome ORPHA:289
  • Faciocardiorenal syndrome ORPHA:1973
  • Fibulo-ulnar hypoplasia-renal anomalies syndrome ORPHA:2256
  • Fraser syndrome ORPHA:2052
  • Hajdu-Cheney syndrome (Acroosteolysis dominant type) ORPHA:955
  • HNF1B-related autosomal dominant tubulointerstitial kidney disease (Renal cysts and diabetes syndrome) ORPHA:93111
  • Holoprosencephaly-radial heart renal anomalies syndrome ORPHA:3186
  • Hydrocephalus-blue sclerae-nephropathy syndrome ORPHA:2186
  • Hypoparathyroidism-sensorineural deafness-renal disease syndrome ORPHA:2237
  • Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome ORPHA:2278
  • Jeune syndrome (renal/urinary tract malformation)
  • Kabuki Syndrome ORPHA:2322
  • Kallmann syndrome ORPHA:478
  • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome ORPHA:444069
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome ORPHA:439897
  • Mayer-Rokitansky-Küster-Hauser syndrome type 1 ORPHA:247775
  • Mayer-Rokitansky-Küster-Hauser syndrome type 2 ORPHA:2578
  • Meckel syndrome ORPHA:564
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome ORPHA:2241
  • Menke-Hennekam syndrome ORPHA:592574
  • Monosomy X syndrome ORPHA:99226
  • Mosaic monosomy X syndrome ORPHA:99228
  • Multicentric carpo-tarsal osteolysis with nephropathy
  • Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome ORPHA:500135
  • Nephrosis-deafness-urinary tract-digital malformations syndrome ORPHA:2669
  • Neurofaciodigitorenal syndrome ORPHA:2673
  • Noonan syndrome ORPHA:648
  • NPHP3-related Meckel-like syndrome ORPHA:3032
  • Orofaciodigital syndrome type 1 ORPHA:2750
  • Pallister-Hall syndrome ORPHA:672
  • Renal caliceal diverticuli-deafness syndrome ORPHA:2838
  • Renal coloboma syndrome ORPHA:1475
  • Renal nutcracker syndrome ORPHA:71273
  • Rubinstein-Taybi syndrome
  • Schinzel-Giedion syndrome ORPHA:798
  • SERKAL syndrome ORPHA:139466
  • SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743
  • Simpson-Golabi-Behmel syndrome ORPHA:373
  • Smith-Lemli-Opitz syndrome ORPHA:818
  • Spastic paraplegia-nephritis-deafness syndrome ORPHA:2820
  • Tall stature-intellectual disability-renal anomalies syndrome ORPHA:500095
  • Thomas syndrome ORPHA:3316
  • Thymic-renal-anal-lung dysplasia ORPHA:3326
  • Thyrocerebrorenal syndrome ORPHA:3327
  • Trisomy 13 syndrome ORPHA:3378
  • Trisomy 18 syndrome ORPHA:3380
  • Townes-Brocks syndrome ORPHA:857
  • Turner syndrome ORPHA:881
  • Turner syndrome due to structural X chromosome anomalies ORPHA:99413
  • Ulbright-Hodes syndrome ORPHA:3404
  • Urofacial syndrome (Ochoa syndrome) ORPHA:2704
  • VACTERL/VATER association ORPHA:887
  • WAGR syndrome ORPHA:893

Thrombotic microangiopathy ORPHA:93573

  • Atypical hemolytic uremic syndrome with anti-factor H antibodies ORPHA:93581
  • Atypical hemolytic uremic syndrome with complement gene abnormality ORPHA:544472
    • Complement factor H, I, 3, 4A deficiency
  • Atypical hemolytic uremic syndrome not otherwise specified
  • Acquired thrombotic thrombocytopenic purpura
  • Congenital thrombotic thrombocytopenic purpura ORPHA:93583
  • De novo thrombotic microangiopathy after kidney transplantation ORPHA:244275
  • Hemolytic uremic syndrome with DGKE deficiency ORPHA:357008
  • Immune-mediated thrombotic thrombocytopenic purpura ORPHA:93585
  • Infection-related hemolytic uremic syndrome ORPHA:544482
  • Methylmalonic acidemia with homocystinuria, type cblC ORPHA:79282
  • Pediatric systemic lupus erythematosus ORPHA:93552
  • Shiga toxin-associated hemolytic uremic syndrome ORPHA:90038
  • Streptococcus pneumoniae-associated hemolytic uremic syndrome ORPHA:544493
  • Systemic lupus erythematosus associated TMA
  • Thrombotic thrombocytopenic purpura ORPHA:54057

Genetic Diseases/Syndromes with Kidney Involvement (groopman list)

• 5-oxoprolinase deficiency
• Acro-renal-ocular syndrome, Duane-Radial Ray Syndrome IVIC Syndrome
• Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism
• Alagille syndrome type 1
• Alkaptonuria
• Arthrogryposis, renal dysfunction, and cholestasis 2` arcs2
• Atypical Werner syndrome Laminopathy type Decaudain-Vigouroux LMNA-related cardiocutaneous progeria syndrome, Restrictive Dermopathy, Lethal
• Autoimmune Disease, multisystem, infantileJonset, 2
• Autoimmune interstitial lung, joint, and kidney disease
• Autoimmune Lymhoproliferative syndrome type 2A
• Autosomal dominant periodic fever syndrome
• Autosomal recessive polycystic kidney disease, Polycystic and hepatic disease
• Autosomal recessive spondylocostal dysostosis
• Blackfan-Diamond anemia
• Burn-McKeown syndrome
• Cardiofaciocutaneous syndrome
• Chondroplasia Punctata syndrome
• Cockayne syndrome
• Coenzyme q10 deficiency
• Coffin Siris syndrome
• Coloboma, ocular` with or without hearing impairment, cleft lip palate, and or mental retardation
• Costello syndrome
• Cowden syndrome
• Cranioectodermal dysplasia type 1
• Cranioectodermal dysplasia type 3
• Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
• Currarino syndrome
• Cushing syndrome due to macronodular adrenal hyperplasia
• Cutis laxa type 1, 1A, 1C
• Cystinosis, nephropathic cystinosis, late-onset Juvenile or adolescent nephropathic
• Cystinuria
• D-bifunctional protein deficiency
• Developmental delay with short stature, dysmorphic features, and sparse hair
• Diabetes mellitus, insulin-dependent, 20` MODY, type 3` Renal cell carcinoma
• Diaphanospondylodysostosis
• Diarrhea 3, secretory sodium, congenital, syndromic
• Dicarboylic aminoaciduria
• Donnai-barrow syndrome
• DOOR syndrome
• Dyskeratosis congenita
• Dyskeratosis Congenita, X-linked
• EEC syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip,palate syndrome 3
• Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
• Ehlers-Danlos syndrome, classic type
• Ehlers-Danlos syndrome, musculocontractural type 1
• Ehlers-Danlos syndrome, type 6
• Ellis Van Creveld syndrome
• Encephalocraniocutaneous Lipomatosis, Kallmann syndrome 2, kal2
• Endocrine-cerebroosteodysplasia
• Epidermolysis bullosa, junctional, Herlitz type` Epidermolysis bullosa, junctional, non-Herlitz type
• Epidermolysis bullosa, junctional, with pyloric atresia
• Epilepsy, Progressive Myoclonic, 4 with or without Renal Failure
• Even-plus syndrome
• Fabry Disease
• Familial dysautonomia, Hereditary sensory and autonomic neuropathy type 3, hsan3
• Familial Mediterranean fever
• Fanconi anemia, complementation group a
• Fanconi anemia, complementation group b
• Fanconi anemia, complementation group c
• Fanconi anemia, Complementation group d2
• Fanconi anemia, complementation group e
• Fanconi anemia, complementation group I
• Fanconi anemia, complementation group L
• Fanconi Anemia, Complementation Group N
• Fanconi anemia, complementation group O
• Fanconi anemia, complementation group P
• Fanconi anemia, Xeroderma pigmentosum, type f, Cockayne syndrome
• Fanconi renotubular syndrome 2 hypercalcemia, infantile, 2 nephrolithiasis,osteoporosis, hypophosphatemic, 1
• Fanconi renotubular syndrome 3
• Fanconi-Bickel syndrome
• Fechtner syndrome` Epstein Syndrome
• Feingold syndrome
• Feingold syndrome 2` Brachydactyly with short stature and microcephaly
• Floating-Harbor syndrome
• Focal dermal hypoplasia
• Focal Segmental Glomerulosclerosis 5 Charcot-Marie-Tooth disease E
• Galloway-Mowat syndrome
• Gaucher disease
• Genitopatellar syndrome
• Gillessen-Kaesbach-Nishimura sundrome (GIKANIS), Congenital disorder of glycosylation, type 2
• Glomerulopathy with fibronectin deposits 2
• Glomerulosclerosis, focal segmental, 6
• Glutaric acidemia 2b
• Glutaric acidemia 2c
• Glutaric aciduria 2a
• Glutaric aciduria 3
• Glutaricaciduria, type I
• GM1-gangliosidosis, type 1, type 2
• Hand-foot-uterus syndrome
• Hartnup Disorder Hyperglycinuria
• Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
• Hennekam Lymphangiectasia-Lymphedema Syndrome
• Hereditary angiopathy with nephropathy, aneurysms and Muscle cramps (HANAC)
• Hereditary hemorrhagic telangiectasia
• Hereditary orotic aciduria
• Hermansky-Pudlak syndrome 1
• HERNS syndrome` Vasculopathy, retinal, with cerebral leukodystrophy
• Hydrolethalus syndrome
• Hydroxykynureninuria
• Hyperaldosteronism,familial,type 3
• Hypercalcemia infantile, 1
• Hyperglycinuria
• Hypomagnesemia associated with myokymia
• Hypomagnesemia type 6 Hypomagnesemia, seizures, and mental retardation
• Hypoparathyroidism-retardation-dysmorphism syndrome` Kenny-Caffey syndrome, type 1
• Hypoparathyroidism, deafness, renal disease syndrome
• Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
• Hypouricemia, renal, 1, rhuc1
• Hypouricemia, renal, 2
• IFAP Syndrome with or without Bresheck Syndrome
• Immunodeficiency 23
• Immunodeficiency-centromeric instability, facial anomalies syndrome 1, icf1
• Immunodeficiency, common variable, 3,6
• Infantile myofibromatosis, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, Lateral meningocele syndrome
• Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
• Interstitial nephritis, karyomegalic
• Johanson-Blizzard syndrome
• Joubert syndrome 16
• Joubert syndrome 18, Orofaciodigital syndrome 4
• Joubert syndrome 2, Meckel syndrome
• Joubert syndrome 25
• Joubert Syndrome 3
• Joubert syndrome type 10, Orofaciodigital syndrome I, Golabi-Behmel syndrome, type 2
• Joubert syndrome type 14
• Joubert syndrome type 20, meckel-gruber syndrome type 11
• Joubert syndrome with hepatic defect, Joubert syndrome with oculorenal defect, Meckel Syndrome 6, Jouber syndrome 9, COACH syndrome
• Joubert syndrome with hepatic defectJoubert Syndrome 1
• Joubert syndrome with oculorenal defect, BardetJbiedl syndrome 14, Joubert Syndrome 5, Meckel syndrome 4, SeniorJLoken Syndrome 6
• Joubert’s syndrome type 15
• Joubert’s syndrome type 22
• Junctional epidermolysis bullosa-pyloric atresia syndrome, Epidermolysis bullosa, junctional, with pyloric stenosis
• Kabuki syndrome
• Kabuki syndrome 1
• Kallmann syndrome 3, kal3 (hypogonadotropic hypogonadism 3 with or without anosmia)
• Kelley-Seegmiller Syndrome Lesch-Nyhan Syndrome
• Knobloch syndrome
• Koolen-De Vries Syndrome
• Lacrimoauriculodentodigital syndrome
• Lathosterolosis
• Laurence-Moon syndrome
• Lethal congenital contracture syndrome 2
• Lethal neonatal carnitine palmitoyltransferase 2 deficiency
• Liddle syndrome
• Linear skin defects with multiple congenital anomalies 2
• Lipodystrophy congenital generalized, type 1
• Lipodystrophy congenital generalized, type 2
• Lipoid adrenal hyperplasia
• Loeys-Dietz syndrome 3
• Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
• Lymphedema, hereditary, IA
• Lysinuric protein intolerance
• Macrocephaly, alopecia, cutis laxa, and scoliosis
• Mandibulfacial dysostosis with alopecia
• Marden-Walker Syndrome
• McArdle Disease
• Meckel syndrome 1, Bardet-Biedl syndrome 13
• Meckel syndrome 12
• Meckel Syndrome 3, Joubert syndrome 6, COACH syndrome
• Meckel syndrome 5, Joubert syndrome 7, COACH syndrome
• Meckel syndrome type 10
• Meckel syndrome, Joubert syndrome 21
• Meckel syndrome` Meckel-Gruber syndrome type 9
• Meckel-gruber syndrome type 8, -oubert syndrome 24
• Medullary cystic kidney disease 1
• Medullary cystic kidney disease 2 hyperuricemic nephropathy glomerulocystic kidney disease
• Megacystis-microcolon-intestinal hypoperistalsis syndrome, Visceral myopathy
• Megalencephaly-polymicogyria-polydactyly-hyodrcephalus syndrome 1
• Megaloblastic anemia 1-finnish type
• Megaloblasticanemia1-norwegian_type
• Mental retardation, autosomal dominant 42
• Mental retardation, autosomal dominant, 27
• Mental retardation, x-linked 90
• Mental retardation, X-linked 99, syndromic, female-restricted
• Mental retardation, XJlinked 98
• Metachromatic leukodystrophy due to SAP-b deficiency
• Metaphyseal chondrodysplasia, Murk Jansen type
• Methylmalonic aciduria and homocystinuria, cbl- type
• Methylmalonic aciduria and homocystinuria, cblc type
• Methylmalonic aciduria and homocystinuria, cblF type
• Mevalonic aciduria
• Micro syndrome
• Microcephalic osteodysplastic primordial dwarfism, type I
• Microcephaly, short stature, and impaired glucose metabolism 2
• Microphthalmia with limb anomalies
• Microphthalmia, Lenz type, Microphthalmia, syndromic 1
• Microphthalmia, Lenz type` Microphthalmia, syndromic 2
• Microphthalmia, syndromic 6
• Microphthalmia, syndromic 9, mcops9
• Microsephaly, short stature, and polymicogyria with or without seizures
• Mitochondrial complex 3 deficiency, nuclear type 1
• Mitochondrial complex 3 deficiency, nuclear type 7
• Mitochondrial Complex 4 deficiency
• Mitochondrial DNA depletion syndrome 13
• Mitochondrial DNA depletion syndrome 8A
• Mitochondrial dna depletion syndrome, encephalomyopathic form, with methylmalonic aciduria
• Mosaic variegated aneuploidy syndrome 1
• Muckle-wells syndrome Familial cold-induced inflammatory syndrome 1
• Muir-Torre syndrome colorectal cancer, hereditary, nonpolyposis, type 1
• Multicentric carpo-tarsal osteolysis with or without nephropathy
• Multiple congenital anomalies-hypotonia-seizures syndrome 1,2,3
• Multiple endocrine neoplasia, type 4
• Multisystemic smooth muscle dysfunction syndrome
• Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13
• Muscular dystrophy-dystroglycanopathy, type A, 1
• Myoglobinuria, acute recurrent
• Myotubular myopathy
• Nager syndrome, Acrofacial dysostosis 1, Nager type
• Nail-patella syndrome
• Neonatal severe primary hyperparathyroidism` Hypocalcemia with Bartter syndrome
• Nephrogenic syndrome of inappropriate diuresis Diabetes insipidus, nephrogenic
• Nephrolithiasis,osteoporosis, hypophosphatemic, 2
• Nephronophthisis 1 – 19
• Nephronophthisis 4 Senior-Loken syndrome 4
• Nephronophthisis, Joubert syndrome 8
• NephronophthisisJ14 Joubert syndrome 16
• Nephropathy due to CFHR5 deficiency
• Nephropathy with pretibial epidermolysis bullosa and deafness
• Neu-Laxova syndrome 1
• Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
• Neurofibromatosis, type I
• Nijmegen breakage syndrome
• Noonan syndrome with multiple lentigines Leopard syndrome 1
• Noonan syndrome with multiple lentigines, Cardiofaciocutaneous syndrome
• Norum disease
• Obesity, adrenal insufficiency, and red hair due to POMC deficiency
• Occipital horn syndrome
• Ochoa syndrome, Urofacial Syndrome 1,2
• Opitz GBBB syndrome, type 2
• Opsismodysplasia
• Orofacial cleft 15
• Orofaciodigital syndrome 5,6
• Pendred syndrome
• Perlman’s syndrome (nephroblastomatosis, gigantism)
• Peters-plus syndrome
• Peutz–eghers syndrome
• Pfeiffer syndrome type 3, Antley-Bixler syndrome, Apert syndrome, LADD syndrome
• Pheochromocytoma Cowden syndrome 3
• Phosphoglycerate kinase 1 deficiency
• Phosphoribosylpyrophosphate Synthetase Syperactivity
• Plasminogen deficiency, Type I
• Polycystic kidney disease 1
• Polycystic liver disease 3 with or without kidney cysts
• Polyhydramnios, megalencephaly, and symptomatic epilepsy
• Popliteal pterygium syndrome, Bartsocas-Papas type
• Proud syndrome
• Prune belly syndrome, Eagle-barrett syndrome
• Rabson-Mendenhall syndrome
• Raine syndrome
• Renal agenesis, bilateral
• Renal coloboma syndrome, FSGS 7, Papillorenal Syndrome, PAPRS
• Renal Cysts and Diabetes Syndrome
• Renal cysts and diabetes syndrome` Hyperinsulinism due to HNF4A deficiency` Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young
• Renal glucosuria
• Renpenning Syndrome 1
• Restrictive Dermopathy, Lethal
• Roberts syndrome
• Robinow syndrome
• Robinow syndrome, autosomal dominant 1
• Rubinstein Taybi syndrome type 1
• Scalp-Ear-Nipple Syndrome
• Schimke immuno-osseous dysplasiaSchimke’s immunoosseous dystrophy
• Schinzel-Giedion Midface Retraction Syndrome
• Schwartz-Jampel syndrome
• Seckel Syndrome 2
• Seckel syndrome 8
• Seckel syndrome 9
• Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (sesame syndrome)
• Senior loken syndrome type 7, Bardet-Biedl Syndrome 16
• Senior-loken syndrome 5
• Senior-Loken syndrome 9
• Senior-Loken syndrome, Nephronophthisis 2, infantile
• Senior-Loken syndrome, Nephronophthisis 3 (adolescent), Meckel syndrome 7, Renal-hepatic-pancreatic dysplasia
• Senior-Loken syndrome, Nephronopthisis 15
• Senior-Loken syndrome, Short-rib thoracic dysplasia 5, Nephronophthisis type 13, Cranioectodermal dysplasia
• SERKAL syndrome Mullerian aplasia and hyperandrogenism
• Short rib-polydactyly syndrome (-eune’s syndrome) type 9
• Short rib-polydactyly syndrome, Verma-Naumoff type
• Short rib-polydactyly syndrome, Verma-Naumoff type, Short rib-polydactyly syndrome (-eune’s syndrome) type 3
• Short rib-polydactyly syndrome, Verma-Naumoff type, Short rib-polydactyly syndrome (-eune’s syndrome) type 7,Cranioectodermal dysplasia type 2
• Short rib-polydactyly syndrome, Verma-Naumoff type, Short rib-polydactyly syndrome (-eune’s syndrome) type 8
• Short rib-polydactyly syndrome, Verma-Naumoff typeShort-rib thoracic dysplasia 11 with or without polydactyly
• Short ribJpolydactyly syndrome (Jeune’s syndrome) type 6
• Short stature, microcephaly, and endocrine dysfunction
• Short-rib thoracic dysplasia 13 with or without polydactyly
• Shwachman-Diamond syndrome
• Sickle Cell Anemia beta-thalassemia, dominant inclusion body type
• Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
• Simpson golabi behmel syndrome type 1
• Single median maxillary central incisor holoprosencephaly 3
• Smith-Lemli-Opitz Syndrome
• Smith-Magenis syndrome Yuan-Harel-Lupski syndrome
• Sneddon syndrome Polyarteritis nodosa, childhood-onset
• Sotos syndrome
• Sotos syndrome 1` Beckwith-Wiedemann syndrome, BWS
• Spinocerebellar ataxia, autosomal recessive 16
• Spondylocarpotarsal synostosis syndrome
• Spondylocular syndrome
• Spondyloenchondrodysplasia with immune dysregulation
• STAR (toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations)
• Stromme syndrome
• Sucrase-isomaltase deficiency, congenital
• Symmetric circumferential skin creases congenital, 2
• TARP syndrome
• Tetraamelia-multiple malformations syndrome
• Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2,Lacrimoauriculodentodigital syndrome
• Thrombocytopenia-absent radius syndrome
• Thrombotic thrombocytopenic purpura, familial
• TMEM70-related mitochondrial encephalo-cardio-myopathy
• Townes-Brocks Branchiootorenal-like Syndrome
• Trichohepatonenteric syndrome 1
• Tuberous Sclerosis-1,2
• Tumoral calcinosis, hyperphosphatemic, familial, hftc
• tyrosinemia, type 1
• Ulna and fibula, absense of, with severe limb deficiency
• Vacterl association with hydrocephalus
• VACTERL association, XJlinked Heterotaxy, visceral, 1
• Van Maldergem syndrome 1
• Van Maldergem Syndrome 2 Hennekam lymphangiectasia-lymphedema syndrome 2
• Verheij syndrome
• Vesicoureteral Reflux 8 Ehlers-Danlos syndrome due to tenascin-X deficiency
• Vici syndrome
• Vitamin B12-unresponsive methylmalonic acidemia type mut0
• Von Hippel-Lindau Syndrome
• Webb-Dattani syndrome
• Wilson Disease
• Wiskott-Aldrich syndrome
• Wolcott-Rallison Syndrome
• Wolfram syndrome 2
• Wolfram syndrome type 1

References

  • European Rare Kidney Disease Reference Network (ERKNet). Disease Information. Available at: https://www.erknet.org/disease-information
  • Groopman EE, Marasa M, Cameron-Christie S, et al. Diagnostic Utility of Exome Sequencing for Kidney Disease. New England Journal of Medicine. 2019;380(2):142–151. doi: 10.1056/NEJMoa1806891
  • Orphanet. Disease. Orphanet. https://www.orpha.net/en/disease.