Biliary atresia with splenic malformation syndrome
Synonyms: BASM syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Infancy, Neonatal
- Status
- active
Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Biliary atresia with splenic malformation syndrome | BASM syndrome |
| fr | Atrésie biliaire avec malformation splénique | Syndrome BASM |
| de | Biliäre Atresie-Milzfehlbildung-Syndrom | BASM-Syndrom · Gallengangatresie - Milzfehlbildung |
| es | Atresia biliar con síndrome de malformación esplénica | Síndrome BASM |
| it | Atresia biliare associata a sindrome da malformazione splenica | Sindrome BASM |
| nl | Atresie van galwegen met malformatie van milt-syndroom | BASM-syndroom |
| pt | Atrésia biliar com síndrome de malformação esplénica | Síndrome BASM |
| pl | Zespół atrezji przewodów żółciowych z malformacją śledziony | Zespół BASM |
| cs | Syndrom bilaterální atrézie s malformací sleziny | BASM syndrom |
| uk | Біліарна атрезія з синдромом мальформації селезінки | Синдром BASM |
| zh | 胆道闭锁伴脾畸形综合征 | BASM综合征 |
| tr | Splenik malformasyon sendromu ile seyreden biliyer atrezi | BASM sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q44.2 | NTBT | attributed | validated |
| ICD-11 | LB2Y | NTBT | attributed | validated |
| MONDO | 0016577 | E | validated | |
| UMLS | C4274029 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:498350Syndromic biliary atresia
rare hepatic diseases - ORPHA:108973Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CFC1 | Candidate gene tested in | Not yet assessed | HGNC:18292 | ENSG00000136698 | 605194 | 2q21.1 | cryptic, EGF-CFC family member 1 | 18162845[PMID] |
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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/244283
- This record as JSON: /data/d/244283.json