MCID: SYN078
MIFTS: 24

Syndromic X-Linked Intellectual Disability Type 10

Categories: Mental diseases, Neuronal diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Syndromic X-Linked Intellectual Disability Type 10

MalaCards integrated aliases for Syndromic X-Linked Intellectual Disability Type 10:

Name: Syndromic X-Linked Intellectual Disability Type 10 12 15
X-Linked Intellectual Disability-Choreoathetosis-Abnormal Behavior Syndrome 12
Mental Retardation, X-Linked, Syndromic 10 73
Hsd10 Deficiency, Atypical Type 12
Hsd10 Disease, Atypical Type 12
Mrxs10 12

Classifications:



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Disease Ontology 12 DOID:0060810
ICD10 33 G25.5
UMLS 73 C1846168

Summaries for Syndromic X-Linked Intellectual Disability Type 10

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has material basis in mutation in the HSD17B10 gene on chromosome Xp11.22.

MalaCards based summary : Syndromic X-Linked Intellectual Disability Type 10, also known as x-linked intellectual disability-choreoathetosis-abnormal behavior syndrome, is related to hsd10 mitochondrial disease and long-chain 3-hydroxyacyl-coa dehydrogenase deficiency. An important gene associated with Syndromic X-Linked Intellectual Disability Type 10 is HSD17B10 (Hydroxysteroid 17-Beta Dehydrogenase 10), and among its related pathways/superpathways are tRNA processing and superpathway of tryptophan utilization. Related phenotypes are behavioral abnormality and intellectual disability

Related Diseases for Syndromic X-Linked Intellectual Disability Type 10

Diseases in the Syndromic X-Linked Intellectual Disability family:

Syndromic X-Linked Intellectual Disability 12 Syndromic X-Linked Intellectual Disability 7
Syndromic X-Linked Intellectual Disability Type 10 Syndromic X-Linked Intellectual Disability 14

Diseases related to Syndromic X-Linked Intellectual Disability Type 10 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hsd10 mitochondrial disease 11.3
2 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 9.7 HADH HSD17B10
3 d-bifunctional protein deficiency 9.3 HADH HSD17B6
4 chromosome 3q29 duplication syndrome 9.0 FSIP1 HSD17B10 HSD17B6

Symptoms & Phenotypes for Syndromic X-Linked Intellectual Disability Type 10

Human phenotypes related to Syndromic X-Linked Intellectual Disability Type 10:

32
# Description HPO Frequency HPO Source Accession
1 behavioral abnormality 32 hallmark (90%) HP:0000708
2 intellectual disability 32 hallmark (90%) HP:0001249
3 abnormality of movement 32 hallmark (90%) HP:0100022

Drugs & Therapeutics for Syndromic X-Linked Intellectual Disability Type 10

Search Clinical Trials , NIH Clinical Center for Syndromic X-Linked Intellectual Disability Type 10

Genetic Tests for Syndromic X-Linked Intellectual Disability Type 10

Anatomical Context for Syndromic X-Linked Intellectual Disability Type 10

Publications for Syndromic X-Linked Intellectual Disability Type 10

Variations for Syndromic X-Linked Intellectual Disability Type 10

Expression for Syndromic X-Linked Intellectual Disability Type 10

Search GEO for disease gene expression data for Syndromic X-Linked Intellectual Disability Type 10.

Pathways for Syndromic X-Linked Intellectual Disability Type 10

Pathways related to Syndromic X-Linked Intellectual Disability Type 10 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.69 HSD17B10 KIAA0391
2
Show member pathways
11.5 HADH HSD17B10
3
Show member pathways
11.23 HADH HSD17B10
4
Show member pathways
10.68 HADH HSD17B10
5
Show member pathways
9.83 HSD17B10 KIAA0391

GO Terms for Syndromic X-Linked Intellectual Disability Type 10

Cellular components related to Syndromic X-Linked Intellectual Disability Type 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.13 HADH HSD17B10 KIAA0391
2 mitochondrial ribonuclease P complex GO:0030678 8.62 HSD17B10 KIAA0391

Biological processes related to Syndromic X-Linked Intellectual Disability Type 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.5 HADH HSD17B10 HSD17B6
2 lipid metabolic process GO:0006629 9.33 HADH HSD17B10 HSD17B6
3 tRNA processing GO:0008033 9.26 HSD17B10 KIAA0391
4 mitochondrial tRNA processing GO:0090646 8.96 HSD17B10 KIAA0391
5 mitochondrial tRNA 5-end processing GO:0097745 8.62 HSD17B10 KIAA0391

Molecular functions related to Syndromic X-Linked Intellectual Disability Type 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.13 HADH HSD17B10 HSD17B6
2 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 8.62 HADH HSD17B10

Sources for Syndromic X-Linked Intellectual Disability Type 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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