Nephronophthisis 19
General Information (adopted from Orphanet):
| Synonyms, Signs: |
NPHP19 |
| Number of Symptoms | 11 |
| OrphanetNr: | |
| OMIM Id: |
616217
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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: | 2 families - PMID: 25557784 [IBIS] |
| Inheritance: |
Autosomal recessive - PMID: 27625867 [IBIS] |
| Age of onset: |
Infancy - PMID: 25557784 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Senior-Boichis syndrome
-Rare genetic disease -Rare renal disease |
Comment:
| Mutations of DCDC2 have been identified as cause of a renal-hepatic ciliopathy in humans that is characterized by severe early-onset liver fibrosis within the first year of life (PMID:25557784). |
Symptom Information:
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(HPO:0012440) | Abnormal biliary tract morphology | 25557784 | IBIS | 2 / 7739 | ||
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(HPO:0001408) | Bile duct proliferation | 25557784 | IBIS | 22 / 7739 | ||
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(HPO:0001396) | Cholestasis | 25557784 | IBIS | 136 / 7739 | ||
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(HPO:0001395) | Hepatic fibrosis | 25557784 | IBIS | 67 / 7739 | ||
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(HPO:0001433) | Hepatosplenomegaly | 25557784 | IBIS | 78 / 7739 | ||
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(HPO:0000091) | Abnormality of the renal tubule | 25557784 | IBIS | 15 / 7739 | ||
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(HPO:0005583) | Tubular basement membrane disintegration | 19118152 | IBIS | 18 / 7739 | ||
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(HPO:0001969) | Tubulointerstitial abnormality | 19118152 | IBIS | 15 / 7739 | ||
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(HPO:0005576) | Tubulointerstitial fibrosis | 25557784 | IBIS | 32 / 7739 | ||
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(HPO:0000108) | Renal corticomedullary cysts | 19118152 | IBIS | 21 / 7739 | ||
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(HPO:0003774) | Stage 5 chronic kidney disease | 27625867; 19118152; 25557784 | IBIS | 78 / 7739 |
Associated genes:
| DCDC2; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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