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Familial partial lipodystrophy associated with PPARG mutations
1 OMIM reference -
1 associated gene
65 connected diseases
15 signs/symptoms
Disease Type of connection
Giant cell glioblastoma
Papillary or follicular thyroid carcinoma
Amyotrophic lateral sclerosis
Weaver syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
2q37 microdeletion syndrome
Combined pituitary hormone deficiencies, genetic forms
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Anaplastic ependymoma
Coffin-Siris syndrome
Familial rhabdoid tumor
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Alveolar rhabdomyosarcoma
Osteogenesis imperfecta type 3
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
5q35 microduplication syndrome
Acute promyelocytic leukemia
Atypical Rett syndrome
Autosomal dominant nonsyndromic intellectual deficit
Autosomal recessive spastic paraplegia type 30
Beckwith-Wiedemann syndrome due to NSD1 mutation
Craniosynostosis, Boston type
Cytomegalic congenital adrenal hypoplasia
Estrogen resistance syndrome
Glucocorticoid resistance
Goldmann-Favre syndrome
Hereditary sensory and autonomic neuropathy type 2
Huntington disease
Intellectual deficit, X-linked - psychosis - macroorchidism
Juvenile Huntington disease
Parietal foramina
Parietal foramina with cleidocranial dysplasia
Retinitis pigmentosa
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Sotos syndrome
Trisomy Xq28
X-linked non-syndromic intellectual deficit
Branchio-oculo-facial syndrome
CHARGE syndrome
Early-onset autosomal dominant Alzheimer disease
Fraser syndrome
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Kallmann syndrome
Normosmic congenital hypogonadotropic hypogonadism
Omenn syndrome
Distal 22q11.2 microdeletion syndrome
Familial Alzheimer-like prion disease
Fatal familial insomnia
Gerstmann-Straussler-Scheinker syndrome
Huntington disease-like 1
Inherited Creutzfeldt-Jakob disease
- Familial partial lipodystrophy type 3

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

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
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
PPARG P37231601487
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

- Acanthosis nigricans
- Hyperuricemia
- Liver / hepatic steatosis

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