ORPHA:69663
Low phospholipid-associated cholelithiasis
Synonyms: ABCB4-related cholelithiasis · LPAC
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Low phospholipid-associated cholelithiasis | ABCB4-related cholelithiasis · LPAC |
| fr | Lithiase biliaire à faible niveau de phospholipides | Cholélithiase par mutation du gène ABCB4 · Lithiase biliaire primitive par déficit en phospholipides · Syndrome LPAC |
| de | Cholelithiasis mit niedrigen Phospholipid-Spiegeln | Cholelithiasis mit assoziierter ABCB4-Genmutation · LPAC |
| es | Colelitiasis asociada a fosfolípidos bajos | Colelitiasis asociada a ABCB4 · Síndrome LPAC |
| it | Litiasi biliare con livelli bassi di fosfolipidi | Colelitiasi da mutazione del gene ABCB4 |
| nl | Cholelithiase geassocieerd met laag gehalte aan fosfolipiden | ABCB4-gerelateerde cholelithiase · LPAC |
| pt | Colelitíase associada a níveis baixos de fosfolípidos | Colelitíase associada a ABCB4 |
| pl | Kamica żółciowa związana z niskim poziomem fosfolipidów | LPAC · Kamica żółciowa z mutacją genu ABCB4 · Kamica żółciowa związana z mutacją genu ABCB4 |
| cs | Nízkofosfolipidová cholelitiáza | Cholelitiáza asociovaná s mutacemi genu ABCB4 · Cholelitiáza s mutacemi genu ABCB4 |
| uk | Низький рівень фосфоліпід-асоційованої жовчнокамяної хвороби | Жовчнокамяна хвороба, повязана з ABCB4 · LPAC |
| zh | 低磷脂相关性胆石病 | ABCB4相关性胆石症 |
| tr | Düşük fosfolipid -ilişkili kolelitiazis | LPAC · ABCB4-ilişkili kolelitiazis |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600803 | E | validated | |
| ICD-10 | K80.8 | NTBT | attributed | validated |
| ICD-11 | DC11.Y | NTBT | index | validated |
| MONDO | 0010939 | E | validated | |
| UMLS | C2609268 | E | validated | |
| MedDRA | 10068936 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:156607Genetic biliary tract disease
rare genetic diseases - ORPHA:101941Rare biliary tract disease
rare hepatic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCB4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:45 | ENSG00000005471 | 171060 | 7q21.12 | ATP binding cassette subfamily B member 4 | 17562004[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
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HPO phenotypes
19 annotations · validated 2021-09-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011848 | Abdominal colic | |
| HP:0001406 | Intrahepatic cholestasis | |
| Frequent (79-30%) | ||
| HP:0001081 | Cholelithiasis | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0030948 | Elevated gamma-glutamyltransferase level | |
| HP:0025502 | Overweight | |
| Occasional (29-5%) | ||
| HP:0005230 | Biliary tract obstruction | |
| HP:0030151 | Cholangitis | |
| HP:0001082 | Cholecystitis | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0000822 | Hypertension | |
| HP:0002896 | Neoplasm of the liver | |
| HP:0001513 | Obesity | |
| HP:0001733 | Pancreatitis | |
| Very rare (<4-1%) | ||
| HP:0002613 | Biliary cirrhosis | |
| HP:0000819 | Diabetes mellitus | |
| HP:0100523 | Liver abscess | |
| HP:0030991 | Sclerosing cholangitis | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30922600[PMID]_33554096[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/69663
- This record as JSON: /data/d/69663.json