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Matthew-Wood syndrome
2 OMIM references -
2 associated genes
14 connected diseases
22 signs/symptoms
Disease Type of connection
Colobomatous microphthalmia
Young adult-onset Parkinsonism
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Inherited acute myeloid leukemia
Alopecia universalis
Atrichia with papular lesions
CLN3 disease
Hypoparathyroidism - deafness - renal disease
Joubert syndrome with oculorenal defect
Marie Unna hereditary hypotrichosis
Neuroblastoma
Precursor B-cell acute lymphoblastic leukemia
Bohring-Opitz syndrome
Synonym(s):
- Anophthalmia - pulmonary hypoplasia
- MCOPS9
- Syndromic microphthalmia type 9

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 (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: before age 5
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
RARB P10826180220
STRA6 Q9BX79610745
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
- Autosomal recessive inheritance
- 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