MCID: SPN135
MIFTS: 9

Spondyloepimetaphyseal Dysplasia X-Linked with Mental Deterioration

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia X-Linked with Mental...

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia X-Linked with Mental Deterioration:

Name: Spondyloepimetaphyseal Dysplasia X-Linked with Mental Deterioration 52 6
Semd X-Linked with Mental Deterioration 52

Classifications:



Summaries for Spondyloepimetaphyseal Dysplasia X-Linked with Mental...

MalaCards based summary : Spondyloepimetaphyseal Dysplasia X-Linked with Mental Deterioration, also known as semd x-linked with mental deterioration, is related to spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy and deafness, x-linked 5. An important gene associated with Spondyloepimetaphyseal Dysplasia X-Linked with Mental Deterioration is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1).

Related Diseases for Spondyloepimetaphyseal Dysplasia X-Linked with Mental...

Diseases related to Spondyloepimetaphyseal Dysplasia X-Linked with Mental Deterioration via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy 11.8
2 deafness, x-linked 5 9.5 RAB33A AIFM1
3 combined oxidative phosphorylation deficiency 6 9.4 RAB33A AIFM1
4 spondyloepimetaphyseal dysplasia, x-linked 9.2 RAB33A AIFM1

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia X-Linked with Mental...

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia X-Linked with Mental...

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia X-Linked with Mental Deterioration

Genetic Tests for Spondyloepimetaphyseal Dysplasia X-Linked with Mental...

Anatomical Context for Spondyloepimetaphyseal Dysplasia X-Linked with Mental...

Publications for Spondyloepimetaphyseal Dysplasia X-Linked with Mental...

Variations for Spondyloepimetaphyseal Dysplasia X-Linked with Mental...

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia X-Linked with Mental Deterioration:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AIFM1 NM_004208.4(AIFM1):c.710A>G (p.Asp237Gly)SNV Pathogenic 694665 X:129274579-129274579 X:130140604-130140604
2 AIFM1 NM_004208.4(AIFM1):c.705G>C (p.Gln235His)SNV Pathogenic 694667 X:129274584-129274584 X:130140609-130140609
3 AIFM1 NM_004208.4(AIFM1):c.697-44T>GSNV Pathogenic 694668 X:129274636-129274636 X:130140661-130140661
4 AIFM1 NM_004208.4(AIFM1):c.720C>T (p.Asp240=)SNV Uncertain significance 598756 rs1569418673 X:129274569-129274569 X:130140594-130140594

Expression for Spondyloepimetaphyseal Dysplasia X-Linked with Mental...

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia X-Linked with Mental Deterioration.

Pathways for Spondyloepimetaphyseal Dysplasia X-Linked with Mental...

GO Terms for Spondyloepimetaphyseal Dysplasia X-Linked with Mental...

Sources for Spondyloepimetaphyseal Dysplasia X-Linked with Mental...

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