Mullerian duct anomalies - limb anomalies
General Information (adopted from Orphanet):
| Synonyms, Signs: |
LIMB-UTERUS SYNDROME |
| Number of Symptoms | 23 |
| OrphanetNr: | 2491 |
| OMIM Id: |
146160
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| ICD-10: |
Q87.8 |
| 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: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Syndromic urogenital tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare urogenital disease Syndromic uterovaginal malformation -Rare gynecologic or obstetric disease |
Symptom Information:
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(HPO:0000130) | Abnormality of the uterus | Frequent [Orphanet] | 86 / 7739 | |||
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(HPO:0003762) | Uterus didelphys | 8 / 7739 | ||||
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(HPO:0008740) | Longitudinal vaginal septum | 3 / 7739 | ||||
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(HPO:0000054) | Micropenis | Frequent [Orphanet] | 257 / 7739 | |||
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(HPO:0000252) | Microcephaly | Frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000486) | Strabismus | Occasional [Orphanet] | 576 / 7739 | |||
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(HPO:0000821) | Hypothyroidism | Occasional [Orphanet] | 141 / 7739 | |||
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(HPO:0003019) | Abnormality of the wrist | Frequent [Orphanet] | 52 / 7739 | |||
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(HPO:0100257) | Ectrodactyly | 27 / 7739 | ||||
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(HPO:0009380) | Aplasia of the fingers | Frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0002997) | Abnormality of the ulna | Frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0001162) | Postaxial hand polydactyly | Occasional [Orphanet] | 119 / 7739 | |||
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(HPO:0003063) | Abnormality of the humerus | Frequent [Orphanet] | 36 / 7739 | |||
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(HPO:0003027) | Mesomelia | Frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0100259) | Postaxial polydactyly | 85 / 7739 | ||||
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(HPO:0001171) | Split hand | 72 / 7739 | ||||
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(HPO:0009811) | Abnormality of the elbow | Frequent [Orphanet] | 30 / 7739 | |||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0007477) | Abnormal dermatoglyphics | Frequent [Orphanet] | 72 / 7739 | |||
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(OMIM) | Upper limb hypoplasia | 1 / 7739 | ||||
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(OMIM) | Mullerian duct anomalies | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Intact hymen | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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