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4 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
15 signs/symptoms
Combined pituitary hormone deficiencies, genetic forms
Familial partial lipodystrophy associated with PPARG mutations

GLI2 PPARG
HESX1
OTX2
POU1F1
PROP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
POU1F1
(0.75)
PPARG



Citations in the biomedical literature:


Combined pituitary hormone deficiencies, genetic forms
GLI2 HESX1 OTX2 POU1F1 PROP1
Familial partial lipodystrophy associated with PPARG mutations
PPARG



Combined pituitary hormone deficiencies, genetic forms
Familial partial lipodystrophy associated with PPARG mutations

Synonym(s):
- Familial congenital hypopituitarism
- Multiple pituitary hormone deficiencies, genetic forms

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

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: -
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:
4 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


Combined pituitary hormone deficiencies, genetic forms

(no data available)