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1 OMIM reference -
1 associated gene
15 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
No signs/symptoms info
Familial partial lipodystrophy associated with PPARG mutations
Cytomegalic congenital adrenal hypoplasia

PPARG NR0B1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PPARG
(0.63)
NR0B1



Citations in the biomedical literature:


Familial partial lipodystrophy associated with PPARG mutations
PPARG
Cytomegalic congenital adrenal hypoplasia
NR0B1



Familial partial lipodystrophy associated with PPARG mutations
Cytomegalic congenital adrenal hypoplasia

Synonym(s):
- FPLD3
- Familial partial lipodystrophy type 3

Synonym(s):
- X-linked congenital adrenal hypoplasia

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: x-linked recessive

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
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


Cytomegalic congenital adrenal hypoplasia

(no data available)