Cytoscape Web
Click node...

Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
3 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Familial partial lipodystrophy associated with PPARG mutations
1 OMIM reference -
1 associated gene
15 signs/symptoms
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Familial partial lipodystrophy associated with PPARG mutations

MUC1
(UniProt - OMIM)
 PPARG
(UniProt - OMIM)
UMOD
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MUC1
(0.7)
PPARG


Citations in the biomedical literature:


Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
MUC1 UMOD
Familial partial lipodystrophy associated with PPARG mutations
PPARG



Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Familial partial lipodystrophy associated with PPARG mutations

Synonym(s):
- Autosomal dominant nephronophthisis
Synonym(s):
- FPLD3
- Familial partial lipodystrophy type 3
Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Familial partial lipodystrophy associated with PPARG mutations

Very frequent
- Abnormal fat distribution / lipodystrophy
- Autosomal dominant inheritance
- Chronic arterial hypertension
- Diabetes mellitus
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin resistance
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea

Frequent
- Acanthosis nigricans
- Hyperuricemia
- Liver / hepatic steatosis

Occasional
- Abnormal / polycystic ovaries
- Angor pectoris / myocardial infarction
- Cirrhosis
- Hirsutism / hypertrichosis / Increased body hair
- Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia


Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

(no data available)