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1 OMIM reference -
1 associated gene
15 signs/symptoms
COMMON GENES: 1
12 associated genes
No signs/symptoms info
Familial partial lipodystrophy associated with PPARG mutations
Giant cell glioblastoma

PPARG EGFR
FGFR1
FGFR3
IDH1
LZTR1
MGMT
NFKBIA
PPARG
SEPT14
TACC1
TACC3
TP53


COMMON
GENES
PPARG



Citations in the biomedical literature:


Familial partial lipodystrophy associated with PPARG mutations
PPARG
Giant cell glioblastoma
EGFR FGFR1 FGFR3 IDH1 LZTR1 MGMT
NFKBIA SEPT14 TACC1 TACC3 TP53



Familial partial lipodystrophy associated with PPARG mutations
Giant cell glioblastoma

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(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
Epidemiological data:
Class of prevalence: -
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic

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


Giant cell glioblastoma

(no data available)