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Hypotrichosis - lymphedema - telangiectasia
1 OMIM reference -
1 associated gene
7 connected diseases
18 signs/symptoms
Disease Type of connection
5q14.3 microdeletion syndrome
Atypical Rett syndrome
Intellectual deficit, X-linked - psychosis - macroorchidism
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Trisomy Xq28
X-linked non-syndromic intellectual deficit
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
(no data available)
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SOX18 P35713601618
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