Familial partial lipodystrophy associated with PPARG mutations |
Weaver syndrome |
PPARG | EZH2 | |||
NSD1 |
INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
PPARG PPARG | (0.63) (0.63) | EZH2 NSD1 | |
Citations in the biomedical literature:
Familial partial lipodystrophy associated with PPARG mutations |
Weaver syndrome |
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Synonym(s): - FPLD3- Familial partial lipodystrophy type 3 | Synonym(s): - Camptodactyly - overgrowth - unusual facies | ||
Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare skin disease | Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease | ||
Classification (ICD10): - Endocrine, nutritional and metabolic diseases -
| Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -
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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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant | ||
External references: 1 OMIM reference -
No MeSH references | External references: 1 OMIM reference - 1 MeSH reference: C536687 | ||
COMMON SIGNS |
- Autosomal dominant inheritance |
Familial partial lipodystrophy associated with PPARG mutations |
Weaver syndrome |
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Very frequent - Abnormal fat distribution / lipodystrophy - 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 | Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Advanced bone age - Broad forehead - Hypertelorism - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Long / large ear - Loose skin / skin relaxation / excess skin / creases - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Tall stature / gigantism / growth acceleration - Thin / hypoplastic toenails - Thin / hypoplastic / hyperconvex fingernails Frequent - Broad foot - Broad / bifid thumb - Camptodactyly of fingers - Failure to thrive / difficulties for feeding in infancy / growth delay - Fine hair - Inguinal / inguinoscrotal / crural hernia - Large hand - Philtrum deeply grooved - Restricted joint mobility / joint stiffness / ankylosis - Round face Occasional - Congenital cardiac anomaly / malformation / cardiopathy - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hyperextensible joints / articular hyperlaxity - Micropenis / small penis / agenesis - Pes cavus - Scoliosis - Syndactyly of fingers / interdigital palm - Talipes-varus / metatarsal varus - Undescended / ectopic testes / cryptorchidia / unfixed testes - Wide space between 1st-2nd toes |