Isolated anencephaly/exencephaly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 5 |
| OrphanetNr: | 1048 |
| OMIM Id: |
206500
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| ICD-10: |
Q00.0 |
| 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: | 35 of 100 000 [Orphanet] |
| Inheritance: |
Multifactorial Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Neural tube closure defect -Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
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(HPO:0008207) | Primary adrenal insufficiency | Very frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0002414) | Spina bifida | 47 / 7739 | ||||
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(HPO:0010301) | Spinal dysraphism | 14 / 7739 | ||||
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 | |||
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(HPO:0002323) | Anencephaly | Very frequent [Orphanet] | 28 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) | Anencephaly is considered an extreme form of neural tube defect (182940), which has been associated with variation in several genes. The entity described here is believed to show autosomal recessive inheritance. |
| Population genetics OMIM |
A striking geographic variation may be in part due to ethnic genetic differences (Masterson, 1962). Farag et al. (1989) reported a marked fall in the frequency of anencephaly among Bedouins in the last 20 years, which ... |