ORPHA:79095
Congenital bile acid synthesis defect type 4
Synonyms: 2-methylacyl-CoA racemase deficiency · AMACR deficiency · Alpha-methyl-acyl-CoA racemase deficiency · BASD4 · Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital bile acid synthesis defect type 4 | 2-methylacyl-CoA racemase deficiency · AMACR deficiency · Alpha-methyl-acyl-CoA racemase deficiency · BASD4 · Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome |
| fr | Déficit congénital de synthèse des acides biliaires type 4 | DSAB4 · Déficit en 2-méthylacyl-CoA racémase · Déficit en AMACR · Déficit en alpha-méthylacyl-CoA racémase |
| de | Gallensäuresynthesedefekt, kongenitaler, Typ 4 | 2-Methylacyl-CoA-Racemase-Mangel · AMACR-Mangel · Alpha-Methylacyl-CoA-Racemase-Mangel · BASD4 · Leberkrankheit-Retinitis pigmentosa-Polyneuropathie-Epilepsie-Syndrom |
| es | Defecto congénito de la síntesis de ácidos biliares tipo 4 | BASD4 · Deficiencia de 2-metilacil-CoA racemasa · Deficiencia de AMACR · Deficiencia de alfa-metilacil-CoA racemasa · Síndrome de enfermedad del hígado-retinosis pigmentaria-polineuropatía-epilepsia |
| it | Difetto congenito della sintesi degli acidi biliari, tipo 4 | |
| nl | Congenitaal defect van galzuursynthese type 4 | BASD4 · Deficiëntie van 2-methylacyl-CoA-racemase · Deficiëntie van alfa-methylacyl-CoA-racemase · Leverziekte - retinitis pigmentosa - polyneuropathie - epilepsie-syndroom · AMACR-deficiëntie |
| pt | Defeito congénito da síntese de ácidos biliares tipo 4 | BASD4 · Deficiência de 2-metilacil-coA racemase · Deficiência de AMACR · Deficiência de alfa-metil-acil-coA racemase · Síndrome de doença hepática-retinite pigmentosa-polineuropatia-epilepsia |
| pl | Wrodzony defekt syntezy kwasów żółciowych typu 4 | BASD4 · Niedobór AMACR · Niedobór racemazy 2-metyloacylo-CoA · Niedobór racemazy alfa-metylo-acylo-CoA · Zespół choroby wątroby, barwnikowego zwyrodnienia siatkówki, polineuropatii i padaczka |
| cs | Vrozená porucha syntézy žlučových kyselin, typ 4 | Deficit 2-methylacyl-CoA racemázy · Deficit AMACR · Deficit alfa-methyl-acyl-CoA racemázy · Syndrom zahrnující onemocnění jater, retinitis pigmentosa, polyneuropatii a epilepsii |
| uk | Вроджений дефект синтезу жовчних кислот, тип 4 | Дефіцит 2-метилацил-КоА рацемази · Дефіцит альфа-метил-ацил-КоА-рацемази · Дефіцит AMACR · BASD4 · Захворювання печінки-пігментна дегенерація сітківки-полінейропатія-епілептичний синдром |
| zh | 先天性胆汁酸合成障碍4型 | 肝病-色素性视网膜炎-多神经病变-癫痫综合征 |
| tr | Doğumsal safra asidi sentez bozukluğu tip 4 | BASD4 · AMACR eksikliği · 2-metilasil-CoA rasemaz eksikliği · Alfa-metil-asil-CoA rasemaz eksikliği · Karaciğer hastalığı-retinitis pigmentosa-polinöropati-epilepsi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 214950 | E | validated | |
| OMIM | 614307 | BTNT | validated | |
| ICD-10 | K76.8 | NTBT | attributed | validated |
| ICD-11 | 5C52.11 | NTBT | index | validated |
| MONDO | 0008967 | E | validated | |
| MeSH | C535444 | E | validated | |
| UMLS | C3280428 | E | validated | |
| GARD | 10046 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:485631Congenital bile acid synthesis defect
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare transplant-related disorders - ORPHA:309810Disorder of peroxisomal alpha-, beta- and omega-oxidation
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AMACR | Disease-causing germline mutation(s) in | Assessed | HGNC:451 | ENSG00000242110 | 604489 | 5p13.2 | alpha-methylacyl-CoA racemase | 18577977[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 10655068[PMID]_12512044[PMID]_ [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
27 annotations · validated 2021-11-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| Frequent (79-30%) | ||
| HP:0001298 | Encephalopathy | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0001250 | Seizure | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0000518 | Cataract | |
| HP:0001081 | Cholelithiasis | |
| HP:0002611 | Cholestatic liver disease | |
| HP:0000716 | Depression | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0200084 | Giant cell hepatitis | |
| HP:0002573 | Hematochezia | |
| HP:0030516 | Homonymous hemianopia | |
| HP:0000135 | Hypogonadism | |
| HP:0011892 | Low levels of vitamin K | |
| HP:0002354 | Memory impairment | |
| HP:0001268 | Mental deterioration | |
| HP:0002076 | Migraine | |
| HP:0003201 | Rhabdomyolysis | |
| HP:0100753 | Schizophrenia | |
| HP:0000763 | Sensory neuropathy | |
| HP:0002401 | Stroke-like episode | |
| HP:0001337 | Tremor | |
| HP:0005978 | Type II diabetes mellitus | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 34267495[PMID]_31951345[PMID]_33047465[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79095
- This record as JSON: /data/d/79095.json