Progressive familial intrahepatic cholestasis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PFIC |
| Number of Symptoms | 24 |
| OrphanetNr: | 172 |
| OMIM Id: |
211600
601847 602347 |
| ICD-10: |
K83.1 |
| UMLs: |
C0268312 |
| MeSH: |
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| MedDRA: |
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| Snomed: |
74162007 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy Childhood Adolescent [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of bilirubin metabolism and excretion
-Rare genetic disease Familial intrahepatic cholestasis -Rare genetic disease -Rare hepatic disease |
Symptom Information:
|
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(HPO:0002750) | Delayed skeletal maturation | Frequent [Orphanet] | 250 / 7739 | |||
|
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(HPO:0004349) | Reduced bone mineral density | Frequent [Orphanet] | 165 / 7739 | |||
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(HPO:0002630) | Fat malabsorption | 11 / 7739 | ||||
|
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(HPO:0000952) | Jaundice | 105 / 7739 | ||||
|
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(HPO:0002240) | Hepatomegaly | Very frequent [Orphanet] | 467 / 7739 | |||
|
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(HPO:0001396) | Cholestasis | Very frequent [Orphanet] | 136 / 7739 | |||
|
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(HPO:0001744) | Splenomegaly | Very frequent [Orphanet] | 337 / 7739 | |||
|
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(HPO:0002014) | Diarrhea | 225 / 7739 | ||||
|
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(HPO:0001394) | Cirrhosis | 102 / 7739 | ||||
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(HPO:0006575) | Intrahepatic cholestasis with episodic jaundice | 1 / 7739 | ||||
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(HPO:0002024) | Malabsorption | Very frequent [Orphanet] | 142 / 7739 | |||
|
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
|
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0003510) | Severe short stature | 90 / 7739 | ||||
|
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
|
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(HPO:0000989) | Pruritus | 111 / 7739 | ||||
|
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(HPO:0001928) | Abnormality of coagulation | Very frequent [Orphanet] | 44 / 7739 | |||
|
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(HPO:0001872) | Abnormality of thrombocytes | Frequent [Orphanet] | 20 / 7739 | |||
|
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(HPO:0002901) | Hypocalcemia | Frequent [Orphanet] | 56 / 7739 | |||
|
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(HPO:0002908) | Conjugated hyperbilirubinemia | 21 / 7739 | ||||
|
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(HPO:0002664) | Neoplasm | Occasional [Orphanet] | 111 / 7739 | |||
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(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
|
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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