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Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
3 OMIM references -
2 associated genes
51 connected diseases
No signs/symptoms info
Disease Type of connection
Familial juvenile hyperuricemic nephropathy type 1
Giant cell glioblastoma
Desmoid tumor
Precursor B-cell acute lymphoblastic leukemia
Hepatocellular carcinoma, childhood-onset
Autosomal dominant nonsyndromic intellectual deficit
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Lethal acantholytic epidermolysis bullosa
Naxos disease
Amyotrophic lateral sclerosis
Hereditary gingival fibromatosis
Lethal congenital contracture syndrome type 2
Noonan syndrome
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Chronic myeloid leukemia
Common variable immunodeficiency
Precursor T-cell acute lymphoblastic leukemia
APC-related attenuated familial adenomatous polyposis
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Turcot syndrome with polyposis
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Familial partial lipodystrophy associated with PPARG mutations
Li-Fraumeni syndrome
Papilloma of choroid plexus
Estrogen resistance syndrome
Familial infantile bilateral striatal necrosis
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Intermittent hydrarthrosis
Spondylocarpotarsal synostosis
TRAPS syndrome
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Severe combined immunodeficiency due to LCK deficiency
Combined immunodeficiency due to ZAP70 deficiency
Spinocerebellar ataxia type 17
Familial papillary renal cell carcinoma
- Autosomal dominant nephronophthisis

Classification (Orphanet):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
MUC1 P15941158340
UMOD P07911191845
No signs/symptoms info available.