Hereditary combined deficiency of vitamin K-dependent clotting factors
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Hereditary combined deficiency of factors II, VII, IX and X |
| Number of Symptoms | 9 |
| OrphanetNr: | 98434 |
| OMIM Id: |
277450
607473 |
| ICD-10: |
D68.2 |
| 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: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital vitamin K-dependent coagulation factors deficiency
-Rare genetic disease -Rare hematologic disease Disorder of other vitamins and cofactors metabolism and transport -Rare genetic disease |
Symptom Information:
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(HPO:0003196) | Short nose | 264 / 7739 | ||||
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(HPO:0000421) | Epistaxis | 85 / 7739 | ||||
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(HPO:0010655) | Epiphyseal stippling | 32 / 7739 | ||||
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(HPO:0009882) | Short distal phalanx of finger | 125 / 7739 | ||||
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(HPO:0005261) | Joint hemorrhage | 17 / 7739 | ||||
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(HPO:0000978) | Bruising susceptibility | 123 / 7739 | ||||
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(HPO:0003645) | Prolonged partial thromboplastin time | 20 / 7739 | ||||
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(HPO:0001892) | Abnormal bleeding | 85 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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