MCID: SPN123
MIFTS: 10

Spondylocostal Dysostosis 3

Categories: Rare diseases, Genetic diseases, Bone diseases, Fetal diseases, Metabolic diseases

Aliases & Classifications for Spondylocostal Dysostosis 3

MalaCards integrated aliases for Spondylocostal Dysostosis 3:

Name: Spondylocostal Dysostosis 3 53 29 6
Spondylocostal Dysostosis 3, Autosomal Recessive 53
Scod3 53

Classifications:



Summaries for Spondylocostal Dysostosis 3

MalaCards based summary : Spondylocostal Dysostosis 3, also known as spondylocostal dysostosis 3, autosomal recessive, is related to spondylocostal dysostosis 3, autosomal recessive. An important gene associated with Spondylocostal Dysostosis 3 is LFNG (LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase).

Related Diseases for Spondylocostal Dysostosis 3

Symptoms & Phenotypes for Spondylocostal Dysostosis 3

Drugs & Therapeutics for Spondylocostal Dysostosis 3

Search Clinical Trials , NIH Clinical Center for Spondylocostal Dysostosis 3

Genetic Tests for Spondylocostal Dysostosis 3

Genetic tests related to Spondylocostal Dysostosis 3:

# Genetic test Affiliating Genes
1 Spondylocostal Dysostosis 3 29 LFNG

Anatomical Context for Spondylocostal Dysostosis 3

Publications for Spondylocostal Dysostosis 3

Variations for Spondylocostal Dysostosis 3

ClinVar genetic disease variations for Spondylocostal Dysostosis 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LFNG NM_001040167.1(LFNG): c.564C> A (p.Phe188Leu) single nucleotide variant Pathogenic rs104894024 GRCh37 Chromosome 7, 2564935: 2564935
2 LFNG NM_001040167.1(LFNG): c.564C> A (p.Phe188Leu) single nucleotide variant Pathogenic rs104894024 GRCh38 Chromosome 7, 2525301: 2525301
3 LFNG NM_001040167.1(LFNG): c.482-4A> G single nucleotide variant Benign rs62444250 GRCh37 Chromosome 7, 2564849: 2564849
4 LFNG NM_001040167.1(LFNG): c.482-4A> G single nucleotide variant Benign rs62444250 GRCh38 Chromosome 7, 2525215: 2525215
5 LFNG NM_001040167.1(LFNG): c.643G> A (p.Ala215Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 2565109: 2565109
6 LFNG NM_001040167.1(LFNG): c.643G> A (p.Ala215Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 2525475: 2525475
7 LFNG NM_001040167.1(LFNG): c.653C> T (p.Pro218Leu) single nucleotide variant Uncertain significance rs148460430 GRCh37 Chromosome 7, 2565119: 2565119
8 LFNG NM_001040167.1(LFNG): c.653C> T (p.Pro218Leu) single nucleotide variant Uncertain significance rs148460430 GRCh38 Chromosome 7, 2525485: 2525485
9 LFNG NM_001040167.1(LFNG): c.723C> T (p.Ser241=) single nucleotide variant Likely benign rs115678269 GRCh38 Chromosome 7, 2525555: 2525555
10 LFNG NM_001040167.1(LFNG): c.723C> T (p.Ser241=) single nucleotide variant Likely benign rs115678269 GRCh37 Chromosome 7, 2565189: 2565189

Expression for Spondylocostal Dysostosis 3

Search GEO for disease gene expression data for Spondylocostal Dysostosis 3.

Pathways for Spondylocostal Dysostosis 3

GO Terms for Spondylocostal Dysostosis 3

Sources for Spondylocostal Dysostosis 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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