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Matthew-Wood syndrome

2 OMIM references -
2 associated genes
22 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Alopecia universalis

3 OMIM references -
1 associated gene
6 signs/symptoms

Matthew-Wood syndrome

Alopecia universalis

RARB	(UniProt - OMIM)		HR	(UniProt - OMIM)
STRA6	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RARB	(0.63)	HR

Citations in the biomedical literature:

Matthew-Wood syndrome		Alopecia universalis
	Synonym(s): - Anophthalmia - pulmonary hypoplasia - MCOPS9 - Syndromic microphthalmia type 9		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare respiratory disease - Rare surgical thoracic disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the skin and subcutaneous tissue -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 2 OMIM references - No MeSH references		External references: 3 OMIM references - 1 MeSH reference: C537055


COMMON SIGNS	- Autosomal recessive inheritance

Matthew-Wood syndrome		Alopecia universalis
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Intellectual deficit / mental / psychomotor retardation / learning disability Frequent - Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration - Congenital cardiac anomaly / malformation / cardiopathy - Diaphragmatic hernia / defect / agenesis - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Stillbirth / neonatal death Occasional - Agenesis / hypoplasia / aplasia of kidneys - Annular pancreas - Asplenia / polysplenia / spleen lobulation / accessory spleen - Congenital absence / agenesis / aplasia / hypoplasia of the pancreas - Duodenal atresia / stenosis / megaduodenum - Ectopic / horseshoe / fused kidneys - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypotonia - Intrauterine growth retardation - Larynx / laryngeal stenosis / atresia - Low set ears / posteriorly rotated ears - Undescended / ectopic testes / cryptorchidia / unfixed testes - Uterine / uterus / Fallopian tubes anomalies - Vesicorenal / vesicoureteral reflux		Very frequent - Absent / decreased lashes - Absent / decreased / thin eyebrows - Alopecia - Decreased body hair / axillar / pubic hairlessness - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness