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Renal tubular dysgenesis of genetic origin
1 OMIM reference -
4 associated genes
62 connected diseases
No signs/symptoms info
Disease Type of connection
Hyperuricemia - anemia - renal failure
Essential thrombocythemia
X-linked non-syndromic intellectual deficit
X-linked intellectual disability, Hedera type
X-linked parkinsonism-spasticity syndrome
Giant cell glioblastoma
Gliosarcoma
Budd-Chiari syndrome
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Acute promyelocytic leukemia
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Melanoma of soft part
Obesity due to prohormone convertase I deficiency
Adrenocortical carcinoma
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
B-cell chronic lymphocytic leukemia
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Distal 22q11.2 microdeletion syndrome
Familial multiple nevi flammei
Familial pancreatic carcinoma
Herpetic encephalitis
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Sturge-Weber syndrome
Costello syndrome
LEOPARD syndrome
Linear nevus sebaceus syndrome
Noonan syndrome
Phakomatosis pigmentokeratotica
Pilocytic astrocytoma
22q11.2 deletion syndrome
Congenital high-molecular-weight kininogen deficiency
Hirschsprung disease
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ACE P12821106180
AGT P01019106150
AGTR1 P30556106165
REN P00797179820
No signs/symptoms info available.