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Berardinelli-Seip congenital lipodystrophy

3 OMIM references -
4 associated genes
45 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

KID syndrome

3 OMIM references -
2 associated genes
49 signs/symptoms

Berardinelli-Seip congenital lipodystrophy

KID syndrome

AGPAT2	(UniProt - OMIM)	GJB2	(UniProt - OMIM)
BSCL2	(UniProt - OMIM)	GJB6	(UniProt - OMIM)
CAV1	(UniProt - OMIM)
FOS	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CAV1	(0.84)	GJB2

Citations in the biomedical literature:

Berardinelli-Seip congenital lipodystrophy		KID syndrome
	Synonym(s): - BSCL - Beradinelli-Seip syndrome - Brunzell syndrome - GCL - Generalized congenital lipodystrophy - Lipoatrophic diabetes		Synonym(s): - KID/HID syndrome - Keratitis - ichthyosis - deafness/Hystrix-like ichthyosis - deafness - Senter syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare otorhinolaryngologic disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal dominant

	External references: 3 OMIM references - No MeSH references		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Anomalies of tongue, gingiva and oral mucosa - Autosomal recessive inheritance - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Thick skin / pachydermia / orange skin

Berardinelli-Seip congenital lipodystrophy		KID syndrome
	Very frequent - Abnormal fat distribution / lipodystrophy - Acanthosis nigricans - Advanced bone age - Broad foot - Diabetes mellitus - Foot anomalies - Hepatomegaly / liver enlargement (excluding storage disease) - Hyperinsulinism / hyperinsulinemia - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Large hand - Lipoatrophy - Muscle hypertrophy - Prognathism / prognathia - Prominent supraorbital ridge - Storage liver disease Frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Acromegaly - Bone cyst - Cardiomyopathy / hypertrophic / dilated - Hair and scalp anomalies - Hepatocellular liver disease / hepatic failure - Hirsutism / hypertrichosis / Increased body hair - Hyperhidrosis / increased sweating - Precocious puberty Occasional - Abnormal / polycystic ovaries - Angor pectoris / myocardial infarction - Arterial stenosis / occlusion - Cirrhosis - Dilated cerebral ventricles without hydrocephaly - Early death / lethality - Liver / hepatic steatosis - Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea - Mutiple fractures / bone fragility - Pancreatitis - Peripheral neuropathy - Pulmonary hypertension - Renal disease / nephropathy - Renal failure - Renal glomerular defect / glomerulopathy		Very frequent - Absent / decreased lashes - Absent / decreased / thin eyebrows - Autosomal dominant inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Corneal clouding / opacity / vascularisation - Enanthema / aphtosa / aphta / leukoplakia - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Ichthyosis / ichthyosiform dermatitis - Macules - Mild visual loss / impaired visual acuity - Osteolysis / osteoclasia / bone destruction / erosions - Photophobia - Sensorineural deafness / hearing loss Frequent - Decreased body hair / axillar / pubic hairlessness - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Fine hair - Fissured / scrotal tongue - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Palmoplantar hyperkeratosis / keratoderma - Thin / hypoplastic toenails - Thin / hypoplastic / hyperconvex fingernails Occasional - Anomalies of teeth and dentition - Areflexia / hyporeflexia - Arthritis / synovitis / synovial proliferation - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Corneal ulceration / perforation - Delayed bone age - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Hearing loss / hypoacusia / deafness - Hemiplegia / diplegia / hemiparesia / limb palsy - Multiple caries - Musculo-tendinous retractions - Neoplasms / tumors - Short stature / dwarfism / nanism - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Tags on cheeks - Undescended / ectopic testes / cryptorchidia / unfixed testes - Urticaria - Visual loss / blindness / amblyopia