SDJLABA
MCID: SKL033
MIFTS: 12

Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age (SDJLABA)

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

MalaCards integrated aliases for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age:

Name: Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age 56 6
Sdjlaba 56

Classifications:



External Ids:

OMIM 56 618870

Summaries for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

OMIM : 56 CSGALNACT1 deficiency is characterized by mild skeletal dysplasia, joint hypermobility, and advanced bone age. Shortness of long bones is evident prenatally, and patients exhibit short stature and relative macrocephaly. Advanced carpotarsal bone age and monkey-wrench appearance of the femur observed in infancy may disappear with age (Mizumoto et al., 2020). (618870)

MalaCards based summary : Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age, is also known as sdjlaba. An important gene associated with Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age is CSGALNACT1 (Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1). Affiliated tissues include bone.

Related Diseases for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

Symptoms & Phenotypes for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

Clinical features from OMIM:

618870

Drugs & Therapeutics for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

Search Clinical Trials , NIH Clinical Center for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age

Genetic Tests for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

Anatomical Context for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

MalaCards organs/tissues related to Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age:

40
Bone

Publications for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

Articles related to Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age:

# Title Authors PMID Year
1
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age. 6 56
31705726 2020
2
Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia. 56 6
31325655 2019
3
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity. 56 6
27599773 2017

Variations for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

ClinVar genetic disease variations for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CSGALNACT1 NM_018371.4:c.635-8538_1228-3196deldeletion Pathogenic 870476
2 CSGALNACT1 NM_018371.4(CSGALNACT1):c.1151C>G (p.Pro384Arg)SNV Pathogenic 870477 8:19276243-19276243 8:19418732-19418732
3 CSGALNACT1 NM_018371.4(CSGALNACT1):c.372del (p.His125fs)deletion Pathogenic 870478 8:19362974-19362974 8:19505463-19505463
4 CSGALNACT1 NM_001130518.1:c.-297+17058_634+22070delinsTindel Pathogenic 870479
5 CSGALNACT1 NM_018371.4(CSGALNACT1):c.1294G>T (p.Asp432Tyr)SNV Pathogenic 870480 8:19266139-19266139 8:19408628-19408628

Expression for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

Search GEO for disease gene expression data for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age.

Pathways for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

GO Terms for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

Sources for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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43 MeSH
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45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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