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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
15 signs/symptoms
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Familial partial lipodystrophy associated with PPARG mutations

CREBBP PPARG


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.88)
PPARG



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP
Familial partial lipodystrophy associated with PPARG mutations
PPARG



Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Familial partial lipodystrophy associated with PPARG mutations

Synonym(s):
(no synonyms)

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

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
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:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
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


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

(no data available)