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1 OMIM reference -
1 associated gene
37 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
15 signs/symptoms
Branchio-oculo-facial syndrome
Familial partial lipodystrophy associated with PPARG mutations

TFAP2A PPARG


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TFAP2A
(0.56)
PPARG



Citations in the biomedical literature:


Branchio-oculo-facial syndrome
TFAP2A
Familial partial lipodystrophy associated with PPARG mutations
PPARG



Branchio-oculo-facial syndrome
Familial partial lipodystrophy associated with PPARG mutations

Synonym(s):
- BOFS

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

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic 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:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
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:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance


Branchio-oculo-facial syndrome
Familial partial lipodystrophy associated with PPARG mutations

Very frequent
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Conductive deafness / hearing loss
- Dermoid sinus / dimple / pit (excluding sacral)
- External ear anomalies
- Low set ears / posteriorly rotated ears
- Philtrum deeply grooved
- Protruding lips
- Retinoschisis / retinal / chorioretinal coloboma
- Skin hypoplasia / aplasia / atrophy

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Anodontia / oligodontia / hypodontia
- Broad nose / nasal bridge
- Coloboma of iris
- Complete / partial microdontia
- Defect / anomaly of lacrimal system
- Dolichocephaly / scaphocephaly
- Dysplastic / thick / grooved fingernails
- High vaulted / narrow palate
- Intrauterine growth retardation
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Premature greying of hair
- Short columella / depressed nasal tip
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Occasional
- Agenesis / hypoplasia / aplasia of kidneys
- Cataract / lens opacification
- Cleft lip and palate
- Lip pits / fistulae
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcornea
- Multicystic kidney / renal dysplasia
- Preaxial polydactyly (hand)
- Ptosis
- Strabismus / squint


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