MCID: MLT123
MIFTS: 8

Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects

Categories: Genetic diseases

Aliases & Classifications for Multiple Joint Dislocations, Short Stature, Craniofacial...

MalaCards integrated aliases for Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects:

Name: Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects 24 29 13
Larsen Syndrome, Autosomal Recessive, Formerly 24

Classifications:



Summaries for Multiple Joint Dislocations, Short Stature, Craniofacial...

MalaCards based summary : Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects, is also known as larsen syndrome, autosomal recessive, formerly. An important gene associated with Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects is B3GAT3 (Beta-1,3-Glucuronyltransferase 3). Affiliated tissues include heart.

Related Diseases for Multiple Joint Dislocations, Short Stature, Craniofacial...

Symptoms & Phenotypes for Multiple Joint Dislocations, Short Stature, Craniofacial...

Drugs & Therapeutics for Multiple Joint Dislocations, Short Stature, Craniofacial...

Search Clinical Trials , NIH Clinical Center for Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects

Genetic Tests for Multiple Joint Dislocations, Short Stature, Craniofacial...

Genetic tests related to Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects:

id Genetic test Affiliating Genes
1 Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects 29 24 B3GAT3

Anatomical Context for Multiple Joint Dislocations, Short Stature, Craniofacial...

MalaCards organs/tissues related to Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects:

39
Heart

Publications for Multiple Joint Dislocations, Short Stature, Craniofacial...

Variations for Multiple Joint Dislocations, Short Stature, Craniofacial...

ClinVar genetic disease variations for Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 B4GALT7 NM_007255.2(B4GALT7): c.808C> T (p.Arg270Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28937869 GRCh37 Chromosome 5, 177035995: 177035995
2 B3GAT3 NM_012200.3(B3GAT3): c.830G> A (p.Arg277Gln) single nucleotide variant Pathogenic/Likely pathogenic rs387906937 GRCh37 Chromosome 11, 62384057: 62384057
3 B3GAT3 NM_012200.3(B3GAT3): c.667G> A (p.Gly223Ser) single nucleotide variant Pathogenic rs372487178 GRCh37 Chromosome 11, 62384220: 62384220

Expression for Multiple Joint Dislocations, Short Stature, Craniofacial...

Search GEO for disease gene expression data for Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects.

Pathways for Multiple Joint Dislocations, Short Stature, Craniofacial...

GO Terms for Multiple Joint Dislocations, Short Stature, Craniofacial...

Sources for Multiple Joint Dislocations, Short Stature, Craniofacial...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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