Congenital bile acid synthesis defect type 4
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Liver disease - retinitis pigmentosa - polyneuropathy - epilepsy AMACR deficiency Alpha-methyl-acyl-CoA racemase deficiency 2-methylacyl-CoA racemase deficiency |
| Number of Symptoms | 24 |
| OrphanetNr: | 79095 |
| OMIM Id: |
214950
614307 |
| ICD-10: |
K76.8 |
| UMLs: |
C1858328 |
| MeSH: |
C535444 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 5 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Bile acid synthesis defect with cholestasis and malabsorption
-Rare genetic disease -Rare hepatic disease Disorder of peroxisomal alpha-, beta- and omega-oxidation -Rare genetic disease Rare hereditary metabolic disease with peripheral neuropathy -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0002007) | Frontal bossing | Occasional [Orphanet] | 366 / 7739 | |||
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(HPO:0000286) | Epicanthus | Occasional [Orphanet] | 371 / 7739 | |||
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(HPO:0000510) | Rod-cone dystrophy | Occasional [Orphanet] | 266 / 7739 | |||
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(HPO:0002383) | Encephalitis | Occasional [Orphanet] | 41 / 7739 | |||
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(HPO:0009830) | Peripheral neuropathy | Frequent [Orphanet] | 206 / 7739 | |||
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
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(HPO:0000954) | Single transverse palmar crease | Occasional [Orphanet] | 162 / 7739 | |||
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(HPO:0002240) | Hepatomegaly | Occasional [Orphanet] | 467 / 7739 | |||
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(HPO:0001406) | Intrahepatic cholestasis | 16 / 7739 | ||||
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(HPO:0006579) | Prolonged neonatal jaundice | 25 / 7739 | ||||
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(HPO:0001396) | Cholestasis | Frequent [Orphanet] | 136 / 7739 | |||
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(HPO:0002910) | Elevated hepatic transaminases | 158 / 7739 | ||||
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(HPO:0001394) | Cirrhosis | Occasional [Orphanet] | 102 / 7739 | |||
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(HPO:0002024) | Malabsorption | Frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0001399) | Hepatic failure | 80 / 7739 | ||||
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(HPO:0200084) | Giant cell hepatitis | 8 / 7739 | ||||
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(HPO:0005264) | Abnormality of the gallbladder | Very frequent [Orphanet] | 14 / 7739 | |||
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(HPO:0002630) | Fat malabsorption | 11 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0003256) | Abnormality of the coagulation cascade | 19 / 7739 | ||||
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(HPO:0002904) | Hyperbilirubinemia | 32 / 7739 | ||||
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(HPO:0003011) | Abnormality of the musculature | Occasional [Orphanet] | 47 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0003623) | Neonatal onset | 22 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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