ODCs

Click node...

Hypotrichosis - lymphedema - telangiectasia

1 OMIM reference -
1 associated gene
18 signs/symptoms

PROTEIN INTERACTIONS: 1

5q14.3 microdeletion syndrome

1 OMIM reference -
1 associated gene
25 signs/symptoms

Hypotrichosis - lymphedema - telangiectasia

5q14.3 microdeletion syndrome

SOX18

(UniProt - OMIM)

MEF2C

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX18	(0.79)	MEF2C

Citations in the biomedical literature:

Hypotrichosis - lymphedema - telangiectasia		5q14.3 microdeletion syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Del(5)(q14.3) - Monosomy 5q14.3

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: neonatal/infancy Average age of death: - Type of inheritance: sporadic

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

Hypotrichosis - lymphedema - telangiectasia		5q14.3 microdeletion syndrome
	Very frequent - Absent / decreased / thin eyebrows - Alopecia - Decreased body hair / axillar / pubic hairlessness - Edema of the legs / lower limbs - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Lymphangioma / lymphatic malformations - Lymphedema - Telangiectasiae of the skin Frequent - Anomalies of eyelids, eyelashes and lacrimal system - Cutis marmorata / marbled skin / livedo - Follicular / erythematous / edematous papules / milium - Palpebral edema / periorbital edema - Vaginal hydrocele / hematocele / pyocele / lymphocele / varicocele - Varices / varicous veins / venous insufficiency Occasional - Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Hydrops fetalis - Structural anomaly of the peritoneum		Very frequent - Autism / autistic disoders - Broad forehead - High forehead - Hypotonia - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - Short philtrum - Short / small nose - Structural anomalies of the nervous system - Tics / stereotypias - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Occasional - Anteverted nares / nostrils - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Deepset eyes / enophthalmos - Failure to thrive / difficulties for feeding in infancy / growth delay - Mouth held open - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Strabismus / squint - Syndactyly of toes - Thick / bushy eyebrows