Matthew-Wood syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MCOPS9 Syndromic microphthalmia type 9 Anophthalmia - pulmonary hypoplasia |
| Number of Symptoms | 57 |
| OrphanetNr: | 2470 |
| OMIM Id: |
601186
615524 |
| ICD-10: |
Q11.2 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 5 cases [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Genetic respiratory malformation -Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Nonsyndromic respiratory or mediastinal malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare surgical thoracic disease Respiratory malformation -Rare respiratory disease Syndromic diaphragmatic or abdominal wall malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis Syndromic diaphragmatic or thoracic malformation -Rare surgical thoracic disease Syndromic microphthalmia -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Syndromic respiratory or mediastinal malformation -Rare developmental defect during embryogenesis -Rare surgical thoracic disease Thoracic malformation -Rare respiratory disease |
Symptom Information:
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(HPO:0000035) | Abnormality of the testis | Occasional [Orphanet] | 296 / 7739 | |||
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(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
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(HPO:0100542) | Abnormal localization of kidney | Occasional [Orphanet] | 64 / 7739 | |||
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(HPO:0000130) | Abnormality of the uterus | Occasional [Orphanet] | 86 / 7739 | |||
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(HPO:0000125) | Pelvic kidney | 10 / 7739 | ||||
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(HPO:0008678) | Renal hypoplasia/aplasia | Occasional [Orphanet] | 127 / 7739 | |||
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(HPO:0000076) | Vesicoureteral reflux | Occasional [Orphanet] | 94 / 7739 | |||
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(HPO:0000089) | Renal hypoplasia | 78 / 7739 | ||||
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(HPO:0000813) | Bicornuate uterus | 22 / 7739 | ||||
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(HPO:0000085) | Horseshoe kidney | 39 / 7739 | ||||
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(HPO:0000126) | Hydronephrosis | 119 / 7739 | ||||
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(HPO:0000013) | Hypoplasia of the uterus | 21 / 7739 | ||||
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(HPO:0004712) | Renal malrotation | 6 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000528) | Anophthalmia | 42 / 7739 | ||||
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(HPO:0000431) | Wide nasal bridge | 290 / 7739 | ||||
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(HPO:0007633) | Bilateral microphthalmos | 13 / 7739 | ||||
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(HPO:0000581) | Blepharophimosis | 197 / 7739 | ||||
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Very frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Occasional [Orphanet] | 328 / 7739 | |||
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(HPO:0000369) | Low-set ears | Rare [HPO] | 372 / 7739 | |||
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(HPO:0002187) | Intellectual disability, profound | 44 / 7739 | ||||
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(HPO:0000775) | Abnormality of the diaphragm | Frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0001734) | Annular pancreas | Occasional [Orphanet] | 10 / 7739 | |||
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(HPO:0100800) | Aplasia/Hypoplasia of the pancreas | Occasional [Orphanet] | 8 / 7739 | |||
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(HPO:0006270) | Hypoplastic spleen | 4 / 7739 | ||||
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(HPO:0001743) | Abnormality of the spleen | Occasional [Orphanet] | 37 / 7739 | |||
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(HPO:0000776) | Congenital diaphragmatic hernia | 36 / 7739 | ||||
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(HPO:0100867) | Duodenal stenosis | Occasional [Orphanet] | 29 / 7739 | |||
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(HPO:0000023) | Inguinal hernia | 181 / 7739 | ||||
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(HPO:0009110) | Diaphragmatic eventration | 8 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0004325) | Decreased body weight | Occasional [Orphanet] | 492 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Occasional [Orphanet] | 358 / 7739 | |||
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(HPO:0001643) | Patent ductus arteriosus | 228 / 7739 | ||||
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(HPO:0004935) | Pulmonary artery atresia | 12 / 7739 | ||||
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(HPO:0002627) | Right aortic arch with mirror image branching | 5 / 7739 | ||||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Frequent [Orphanet] | 355 / 7739 | |||
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(HPO:0005156) | Hypoplastic left atrium | 3 / 7739 | ||||
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(HPO:0005311) | Agenesis of pulmonary vessels | 2 / 7739 | ||||
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(HPO:0001680) | Coarctation of aorta | 57 / 7739 | ||||
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(HPO:0001631) | Atria septal defect | 274 / 7739 | ||||
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(HPO:0001642) | Pulmonic stenosis | 89 / 7739 | ||||
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(HPO:0001629) | Ventricular septal defect | 316 / 7739 | ||||
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(HPO:0001660) | Truncus arteriosus | Rare [HPO] | 21 / 7739 | |||
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(HPO:0001750) | Single ventricle | 3 / 7739 | ||||
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(HPO:0001636) | Tetralogy of Fallot | 104 / 7739 | ||||
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(HPO:0002093) | Respiratory insufficiency | 410 / 7739 | ||||
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(HPO:0002089) | Pulmonary hypoplasia | 80 / 7739 | ||||
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(HPO:0006703) | Aplasia/Hypoplasia of the lungs | Frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0001602) | Laryngeal stenosis | Occasional [Orphanet] | 21 / 7739 | |||
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(HPO:0002101) | Abnormal lung lobation | Frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0005944) | Bilateral lung agenesis | 4 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | Occasional [Orphanet] | 990 / 7739 | |||
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(HPO:0011420) | Death | Frequent [Orphanet] | 184 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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