MCID: SHR119
MIFTS: 7

Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

MalaCards integrated aliases for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis:

Name: Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 58 6
Ssasks 58

Classifications:



External Ids:

OMIM 58 618363

Summaries for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

OMIM : 58 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis is characterized by disproportionate short stature, defective tooth enamel formation, and skeletal dysplasia with severe scoliosis in some patients. Variable features include facial dysmorphism, moderate hearing impairment, and mildly impaired intellectual development (Ashikov et al., 2018). (618363)

MalaCards based summary : Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis, is also known as ssasks. An important gene associated with Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis is SLC10A7 (Solute Carrier Family 10 Member 7).

Related Diseases for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

Symptoms & Phenotypes for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

Clinical features from OMIM:

618363

Drugs & Therapeutics for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

Search Clinical Trials , NIH Clinical Center for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis

Genetic Tests for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

Anatomical Context for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

Publications for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

Variations for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

ClinVar genetic disease variations for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC10A7 NM_001029998.5(SLC10A7): c.722-16A> G single nucleotide variant Pathogenic GRCh37 Chromosome 4, 147214148: 147214148
2 SLC10A7 NM_001029998.5(SLC10A7): c.722-16A> G single nucleotide variant Pathogenic GRCh38 Chromosome 4, 146292996: 146292996
3 SLC10A7 NM_001317816.1(SLC10A7): c.335G> A (p.Gly112Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 147425062: 147425062
4 SLC10A7 NM_001317816.1(SLC10A7): c.335G> A (p.Gly112Asp) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 146503910: 146503910
5 SLC10A7 NM_001317816.1(SLC10A7): c.514C> T (p.Gln172Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 147227080: 147227080
6 SLC10A7 NM_001317816.1(SLC10A7): c.514C> T (p.Gln172Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 146305928: 146305928
7 SLC10A7 NM_001317816.1(SLC10A7): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 147431164: 147431164
8 SLC10A7 NM_001317816.1(SLC10A7): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 146510012: 146510012
9 SLC10A7 NM_001317816.1(SLC10A7): c.388G> A (p.Gly130Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 147425009: 147425009
10 SLC10A7 NM_001317816.1(SLC10A7): c.388G> A (p.Gly130Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 146503857: 146503857

Expression for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

Search GEO for disease gene expression data for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis.

Pathways for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

GO Terms for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

Sources for Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia...

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63 PubMed
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70 SNOMED-CT via HPO
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72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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