ODCs

Click node...

Matthew-Wood syndrome

2 OMIM references -
2 associated genes
22 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Hypoparathyroidism - deafness - renal disease

1 OMIM reference -
1 associated gene
21 signs/symptoms

Matthew-Wood syndrome

Hypoparathyroidism - deafness - renal disease

RARB	(UniProt - OMIM)		GATA3	(UniProt - OMIM)
STRA6	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RARB	(0.63)	GATA3

Citations in the biomedical literature:

Matthew-Wood syndrome		Hypoparathyroidism - deafness - renal disease
	Synonym(s): - Anophthalmia - pulmonary hypoplasia - MCOPS9 - Syndromic microphthalmia type 9		Synonym(s): - Barakat syndrome - HDR syndrome

	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 developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare otorhinolaryngologic disease - Rare renal disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Agenesis / hypoplasia / aplasia of kidneys - Ectopic / horseshoe / fused kidneys - Failure to thrive / difficulties for feeding in infancy / growth delay - Vesicorenal / vesicoureteral reflux

Matthew-Wood syndrome		Hypoparathyroidism - deafness - renal disease
	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 - Annular pancreas - Asplenia / polysplenia / spleen lobulation / accessory spleen - Autosomal recessive inheritance - Congenital absence / agenesis / aplasia / hypoplasia of the pancreas - Duodenal atresia / stenosis / megaduodenum - 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		Very frequent - Autosomal dominant inheritance - Hypocalcemia - Hypoparathyroidy - Sensorineural deafness / hearing loss Frequent - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Gastric / pyloric stenosis - Hematuria / microhematuria - Multicystic kidney / renal dysplasia - Nystagmus - Proteinuria - Psoriasis - Ptosis - Renal failure - Retinitis pigmentosa / retinal pigmentary changes - Ventricular septal defect / interventricular communication