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Hypotrichosis - lymphedema - telangiectasia

1 OMIM reference -
1 associated gene
18 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Hypotrichosis - lymphedema - telangiectasia

Trisomy Xq28

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX18	(0.63)	MECP2

Citations in the biomedical literature:

Hypotrichosis - lymphedema - telangiectasia		Trisomy Xq28
	Synonym(s): (no synonyms)		Synonym(s): - Distal duplication Xq - Telomeric duplication Xq

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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: (no data available)

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

Hypotrichosis - lymphedema - telangiectasia		Trisomy Xq28
	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 - Blepharophimosis / short palpebral fissures - Delayed bone age - Epicanthic folds - Everted lower lip - Intellectual deficit / mental / psychomotor retardation / learning disability - Ptosis - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tented upper lip - Total / partial trisomy / duplication - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Abnormal gait - Inguinal / inguinoscrotal / crural hernia - Pectus excavatum Occasional - Restricted joint mobility / joint stiffness / ankylosis