MCID: SYN078
MIFTS: 26

Syndromic X-Linked Intellectual Disability Type 10

Categories: Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare 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 70
Hsd10 Deficiency, Atypical Type 12
Hsd10 Disease, Atypical Type 12
Mrxs10 12

Classifications:



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Disease Ontology 12 DOID:0060810
ICD10 32 G25.5
UMLS 70 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 3-hydroxyacyl-coa dehydrogenase deficiency. An important gene associated with Syndromic X-Linked Intellectual Disability Type 10 is FSIP1 (Fibrous Sheath Interacting Protein 1), and among its related pathways/superpathways are Steroid hormone biosynthesis and rRNA processing in the mitochondrion. Related phenotypes are intellectual disability and behavioral abnormality

Related Diseases for Syndromic X-Linked Intellectual Disability Type 10

Graphical network of the top 20 diseases related to Syndromic X-Linked Intellectual Disability Type 10:



Diseases related to Syndromic X-Linked Intellectual Disability Type 10

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

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

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 hallmark (90%) HP:0001249
2 behavioral abnormality 31 hallmark (90%) HP:0000708
3 abnormality of movement 31 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

Articles related to Syndromic X-Linked Intellectual Disability Type 10:

# Title Authors PMID Year
1
17β-Hydroxysteroid dehydrogenases and neurosteroid metabolism in the central nervous system. 61
30321584 2019
2
Hydroxysteroid (17β) dehydrogenase X in human health and disease. 61
21708223 2011
3
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability. 61
22132097 2011
4
HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids. 61
17618155 2007
5
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. 61
17236142 2007

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
10.96 HSD17B8 HSD17B1 DHRS11
2
Show member pathways
10.36 PRORP HSD17B10
3 9.23 HSD17B1 ESR1

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 9.26 PRORP HSD17B8 HSD17B10 HADH
2 mitochondrial ribonuclease P complex GO:0030678 8.62 PRORP HSD17B10

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.88 HSD17B8 HSD17B10 HSD17B1 HADH DHRS11
2 lipid metabolic process GO:0006629 9.83 HSD17B8 HSD17B10 HSD17B1 HADH DHRS11
3 neuron differentiation GO:0030182 9.67 MECP2 IL1RAPL1 CEBPB
4 tRNA processing GO:0008033 9.63 PRORP HSD17B10 FTSJ1
5 steroid biosynthetic process GO:0006694 9.58 HSD17B8 HSD17B1 DHRS11
6 mitochondrial tRNA processing GO:0090646 9.37 PRORP HSD17B10
7 estrogen metabolic process GO:0008210 9.33 HSD17B8 HSD17B10 HSD17B1
8 mitochondrial tRNA methylation GO:0070901 9.32 PRORP HSD17B10
9 mitochondrial tRNA 5'-end processing GO:0097745 9.26 PRORP HSD17B10
10 androgen metabolic process GO:0008209 9.13 HSD17B8 HSD17B10 ESR1
11 estrogen biosynthetic process GO:0006703 8.8 HSD17B8 HSD17B1 DHRS11

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 9.77 HSD17B8 HSD17B10 HSD17B1 HADH DHRS11
2 steroid binding GO:0005496 9.4 HSD17B1 ESR1
3 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.33 HSD17B8 HSD17B10 HADH
4 testosterone dehydrogenase [NAD(P)] activity GO:0030283 9.32 HSD17B10 HSD17B1
5 17-beta-hydroxysteroid dehydrogenase (NADP+) activity GO:0072582 9.26 HSD17B1 DHRS11
6 testosterone dehydrogenase (NAD+) activity GO:0047035 9.13 HSD17B8 HSD17B10 HSD17B1
7 estradiol 17-beta-dehydrogenase activity GO:0004303 8.92 HSD17B8 HSD17B10 HSD17B1 DHRS11

Sources for Syndromic X-Linked Intellectual Disability Type 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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