MCID: BLR023
MIFTS: 10

Biliary Atresia with Splenic Malformation Syndrome

Categories: Fetal diseases, Liver diseases, Rare diseases

Aliases & Classifications for Biliary Atresia with Splenic Malformation Syndrome

MalaCards integrated aliases for Biliary Atresia with Splenic Malformation Syndrome:

Name: Biliary Atresia with Splenic Malformation Syndrome 59
Basm Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
biliary atresia with splenic malformation syndrome
Inheritance: Multigenic/multifactorial; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q44.2
Orphanet 59 ORPHA244283

Summaries for Biliary Atresia with Splenic Malformation Syndrome

MalaCards based summary : Biliary Atresia with Splenic Malformation Syndrome, is also known as basm syndrome. An important gene associated with Biliary Atresia with Splenic Malformation Syndrome is CFC1 (Cripto, FRL-1, Cryptic Family 1). Affiliated tissues include liver and kidney.

Related Diseases for Biliary Atresia with Splenic Malformation Syndrome

Symptoms & Phenotypes for Biliary Atresia with Splenic Malformation Syndrome

Drugs & Therapeutics for Biliary Atresia with Splenic Malformation Syndrome

Search Clinical Trials , NIH Clinical Center for Biliary Atresia with Splenic Malformation Syndrome

Genetic Tests for Biliary Atresia with Splenic Malformation Syndrome

Anatomical Context for Biliary Atresia with Splenic Malformation Syndrome

MalaCards organs/tissues related to Biliary Atresia with Splenic Malformation Syndrome:

41
Liver, Kidney

Publications for Biliary Atresia with Splenic Malformation Syndrome

Articles related to Biliary Atresia with Splenic Malformation Syndrome:

# Title Authors PMID Year
1
Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome. 38
30664273 2019
2
Unusual presentation of biliary atresia splenic malformation syndrome with autosomal dominant hypospadias. 38
22303794 2011
3
Biliary atresia. 38
20011467 2008
4
Surgical outcome in biliary atresia: etiology affects the influence of age at surgery. 38
18362634 2008
5
Biliary atresia splenic malformation syndrome--is it a result of embryonically midline rotational defects? A case report. 38
10999706 2000
6
Biliary atresia splenic malformation syndrome: an etiologic and prognostic subgroup. 38
8506525 1993

Variations for Biliary Atresia with Splenic Malformation Syndrome

Expression for Biliary Atresia with Splenic Malformation Syndrome

Search GEO for disease gene expression data for Biliary Atresia with Splenic Malformation Syndrome.

Pathways for Biliary Atresia with Splenic Malformation Syndrome

GO Terms for Biliary Atresia with Splenic Malformation Syndrome

Sources for Biliary Atresia with Splenic Malformation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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