Early-onset familial noncirrhotic portal hypertension
General Information (adopted from Orphanet):
| Synonyms, Signs: |
NCPH Portal hypertension, noncirrhotic |
| Number of Symptoms | 9 |
| OrphanetNr: | 494348 |
| OMIM Id: |
617068
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| ICD-10: |
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| 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: | 3 cases - PMID: 26874653 [IBIS] |
| Inheritance: |
Autosomal recessive - PMID: 26874653 [IBIS] |
| Age of onset: |
Infancy Childhood - PMID: 26874653 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT
-AARSKOG SYNDROME, AUTOSOMAL DOMINANT |
Comment:
| Three subjects from two consanguineous families shared the identical rare homozygous p.N46S mutation in DGUOK, a deoxyguanosine kinase required for mitochondrial DNA replication; haplotype sharing demonstrated that the mutation in the two families was inherited from a remote common ancestor. All three affected subjects had stable portal hypertension with noncirrhotic liver disease for 6-16 years of follow-up (PMID:26874653). |
Symptom Information:
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(HPO:0003270) | Abdominal distention | 26874653 | IBIS | 46 / 7739 | ||
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(HPO:0002013) | Vomiting | 26874653 | IBIS | 191 / 7739 | ||
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(HPO:0001409) | Portal hypertension | 26874653 | IBIS | 39 / 7739 | ||
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(HPO:0001945) | Fever | 26874653 | IBIS | 218 / 7739 | ||
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(HPO:0002040) | Esophageal varix | 26874653 | IBIS | 23 / 7739 | ||
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(HPO:0006580) | Portal fibrosis | 26874653 | IBIS | 10 / 7739 | ||
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(HPO:0002910) | Elevated hepatic transaminases | 26874653 | IBIS | 158 / 7739 | ||
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(HPO:0001433) | Hepatosplenomegaly | 26874653 | IBIS | 78 / 7739 | ||
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(HPO:0001873) | Thrombocytopenia | 26874653 | IBIS | 224 / 7739 |
Associated genes:
| DGUOK; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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