MCID: SYN078
MIFTS: 29

Syndromic X-Linked Intellectual Disability Type 10

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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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 11 58 14
X-Linked Intellectual Disability-Choreoathetosis-Abnormal Behavior Syndrome 11 58
Hsd10 Deficiency, Atypical Type 11 58
Hsd10 Disease, Atypical Type 11 58
Mental Retardation, X-Linked, Syndromic 10 71
Mrxs10 11

Characteristics:


Inheritance:

Hsd10 Disease, Atypical Type: X-linked dominant 58

Prevelance:

Hsd10 Disease, Atypical Type: <1/1000000 (Worldwide) 58

Age Of Onset:

Hsd10 Disease, Atypical Type: Childhood,Infancy 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 11 DOID:0060810
ICD10 31 G25.5
ICD10 via Orphanet 32 G25.5
Orphanet 58 ORPHA85295
UMLS 71 C1846168

Summaries for Syndromic X-Linked Intellectual Disability Type 10

Disease Ontology: 11 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 chromosome 3q29 duplication syndrome. 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 FOXA2 and FOXA3 transcription factor networks and FOXA1 transcription factor network. Related phenotypes are intellectual disability and behavioral abnormality

Related Diseases for Syndromic X-Linked Intellectual Disability Type 10

Diseases in the Syndromic X-Linked Intellectual Disability 34 family:

Syndromic X-Linked Intellectual Disability Syndromic X-Linked Intellectual Disability 17
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
Syndromic X-Linked Intellectual Disability 94

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

(show all 19)
# Related Disease Score Top Affiliating Genes
1 hsd10 mitochondrial disease 11.1
2 chromosome 3q29 duplication syndrome 10.2 HSD17B10 FSIP1
3 non-syndromic x-linked intellectual disability 106 10.2 TSPAN7 IL1RAPL1
4 non-syndromic x-linked intellectual disability 98 10.1 TSPAN7 IL1RAPL1
5 non-syndromic x-linked intellectual disability 58 10.1 TSPAN7 IL1RAPL1
6 non-syndromic x-linked intellectual disability 91 10.1 TSPAN7 IL1RAPL1
7 alpha-methylacetoacetic aciduria 10.1 HSD17B10 HADH FSIP1
8 progesterone-receptor positive breast cancer 9.9 TMEM47 ESR1
9 17-beta hydroxysteroid dehydrogenase iii deficiency 9.9 HSD17B1 DHRS11
10 d-bifunctional protein deficiency 9.9 HADH DHRS11
11 estrogen excess 9.8 ESR1 DHRS11
12 syndromic x-linked intellectual disability 9.8 TSPAN7 MECP2 FSIP1
13 non-syndromic x-linked intellectual disability 9.7 TSPAN7 MECP2 IL1RAPL1
14 amelogenesis imperfecta, type ig 9.7 HSD17B1 ESR1 DHRS11
15 amelogenesis imperfecta 9.6 HSD17B1 ESR1 DHRS11
16 syndromic intellectual disability 9.6 TSPAN7 MECP2 IL1RAPL1 FSIP1
17 disorder of sexual development 9.6 HSD17B1 ESR1 DHRS11
18 aromatase excess syndrome 9.6 ESR1 DHRS11
19 cryptorchidism, unilateral or bilateral 9.5 HSD17B1 ESR1 DHRS11

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:

58 30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 behavioral abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000708
3 abnormality of movement 58 30 Hallmark (90%) Very frequent (99-80%)
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. 62
30321584 2019
2
Hydroxysteroid (17β) dehydrogenase X in human health and disease. 62
21708223 2011
3
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability. 62
22132097 2011
4
HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids. 62
17618155 2007
5
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. 62
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

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 ribonuclease P complex GO:0030678 8.92 PRORP HSD17B10

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 lipid metabolic process GO:0006629 9.85 HSD17B8 HSD17B10 HSD17B1 HADH DHRS11
2 steroid biosynthetic process GO:0006694 9.72 HSD17B8 HSD17B1 DHRS11
3 mitochondrial tRNA 5'-end processing GO:0097745 9.56 PRORP HSD17B10
4 estrogen metabolic process GO:0008210 9.55 HSD17B8 HSD17B10 HSD17B1
5 androgen metabolic process GO:0008209 9.43 HSD17B8 HSD17B10 ESR1
6 estrogen biosynthetic process GO:0006703 9.1 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 9.91 HSD17B8 HSD17B10 HSD17B1 HADH DHRS11
2 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.71 HSD17B10 HADH
3 testosterone dehydrogenase [NAD(P)] activity GO:0030283 9.67 HSD17B10 HSD17B1
4 testosterone dehydrogenase (NAD+) activity GO:0047035 9.63 HSD17B1 HSD17B10 HSD17B8
5 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.62 HSD17B8 HSD17B1 HADH
6 17-beta-hydroxysteroid dehydrogenase (NADP+) activity GO:0072582 9.56 HSD17B1 DHRS11
7 17-beta-hydroxysteroid dehydrogenase (NAD+) activity GO:0044594 9.56 HSD17B8 HSD17B10 HSD17B1 DHRS11
8 estradiol 17-beta-dehydrogenase activity GO:0004303 9.23 HSD17B8 HSD17B10 HSD17B1 DHRS11

Sources for Syndromic X-Linked Intellectual Disability Type 10

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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