Syndromic X-Linked Intellectual Disability Turner Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MRXST MCID: SYN090 MIFTS: 25	Syndromic X-Linked Intellectual Disability Turner Type (MRXST) Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Sources

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

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

Name: Syndromic X-Linked Intellectual Disability Turner Type ¹² ¹⁵

X-Linked Intellectual Disability, Brooks Type ¹² ⁵⁸

Mental Retardation, X-Linked, Syndromic, Turner Type ⁷¹

Mental Retardation, X-Linked Syndromic, Turner Type ¹²

Mental Retardation and Macrocephaly Syndrome ¹²

Brooks-Wisniewski-Brown Syndrome ¹²

Mrxst ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁸

x-linked intellectual disability, brooks type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0060811

ICD10 ³² Q87.8

ICD10 via Orphanet ³³ Q87.8

Orphanet ⁵⁸ ORPHA3056

UMLS ⁷¹ C2678046

Sources

Summaries for Syndromic X-Linked Intellectual Disability Turner Type

Disease Ontology : ¹² A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has material basis in mutation in the HUWE1 gene on chromosome Xp11.22.

MalaCards based summary : Syndromic X-Linked Intellectual Disability Turner Type, also known as x-linked intellectual disability, brooks type, is related to mental retardation, x-linked, syndromic, turner type and brown syndrome. An important gene associated with Syndromic X-Linked Intellectual Disability Turner Type is ACOT9 (Acyl-CoA Thioesterase 9). Affiliated tissues include eye, and related phenotypes are hearing impairment and intellectual disability

Sources

Related Diseases for Syndromic X-Linked Intellectual Disability Turner Type

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

(show all 15)

#	Related Disease	Score	Top Affiliating Genes
1	mental retardation, x-linked, syndromic, turner type	12.0
2	brown syndrome	10.6
3	spastic diplegia	10.6
4	3-methylglutaconic aciduria, type iii	10.4
5	joint laxity, short stature, and myopia	10.4
6	alcohol-related neurodevelopmental disorder	10.4
7	microcephaly	10.4
8	hydrocephalus	10.4
9	myopia	10.4
10	entropion	10.4
11	mitochondrial disorders	10.4
12	encephalopathy	10.4
13	syndromic x-linked intellectual disability siderius type	9.4	SHROOM4 FAM120C ACOT9
14	rett syndrome	9.2	SHROOM4 ATRX
15	autism	9.0	GSPT2 FAM120C ATRX

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

Sources

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

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

⁵⁸ ³¹ (show all 44)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hearing impairment ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000365
2	intellectual disability ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001249
3	microcephaly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000252
4	short stature ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004322
5	blepharophimosis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000581
6	small for gestational age ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001518
7	depressed nasal bridge ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005280
8	delayed speech and language development ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000750
9	optic atrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000648
10	developmental regression ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002376
11	failure to thrive ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001508
12	decreased muscle mass ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003199
13	nystagmus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000639
14	hyperreflexia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001347
15	cryptorchidism ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000028
16	low posterior hairline ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002162
17	myopia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000545
18	pectus excavatum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000767
19	multiple joint contractures ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002828
20	thin upper lip vermilion ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000219
21	deeply set eye ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000490
22	increased serum lactate ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002151
23	malar flattening ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000272
24	short philtrum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000322
25	bulbous nose ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000414
26	agenesis of corpus callosum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001274
27	triangular face ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000325
28	tented upper lip vermilion ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010804
29	tapered finger ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001182
30	cupped ear ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000378
31	posteriorly rotated ears ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000358
32	prominent nose ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000448
33	cerebral atrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002059
34	spastic diplegia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001264
35	hyperactivity ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000752
36	generalized hypotonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001290
37	almond-shaped palpebral fissure ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007874
38	esotropia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000565
39	narrow palpebral fissure ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0045025
40	narrow forehead ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000341
41	poor coordination ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002370
42	epicanthus inversus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000537
43	strabismus ⁵⁸		Frequent (79-30%)
44	growth delay ⁵⁸		Frequent (79-30%)

Sources

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

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

Sources

Genetic Tests for Syndromic X-Linked Intellectual Disability Turner Type

Sources

Anatomical Context for Syndromic X-Linked Intellectual Disability Turner Type

MalaCards organs/tissues related to Syndromic X-Linked Intellectual Disability Turner Type:

⁴⁰

Eye

Sources

Publications for Syndromic X-Linked Intellectual Disability Turner Type

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

#	Title	Authors	PMID	Year
1	Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome. ⁶¹	Morava E...Smeitink J	16477654	2006
2	X-linked mental retardation syndrome: three brothers with the Brooks-Wisniewski-Brown syndrome. ⁶¹	Morava E...Kosztolanyi G	8826449	1996

Sources

Genes for Syndromic X-Linked Intellectual Disability Turner Type

Genes related to Syndromic X-Linked Intellectual Disability Turner Type (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ACOT9	Acyl-CoA Thioesterase 9	Protein Coding	6.23	DISEASES inferred ¹⁵
2	GSPT2	G1 To S Phase Transition 2	Protein Coding	5.95	DISEASES inferred ¹⁵
3	SHROOM4	Shroom Family Member 4	Protein Coding	5.86	DISEASES inferred ¹⁵
4	SLFN12	Schlafen Family Member 12	Protein Coding	5.78	DISEASES inferred ¹⁵
5	ATRX	ATRX Chromatin Remodeler	Protein Coding	5.74	DISEASES inferred ¹⁵
6	FAM120C	Family With Sequence Similarity 120C	Protein Coding	5.71	DISEASES inferred ¹⁵

Sources

Variations for Syndromic X-Linked Intellectual Disability Turner Type

Sources

Expression for Syndromic X-Linked Intellectual Disability Turner Type

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

Sources

Pathways for Syndromic X-Linked Intellectual Disability Turner Type

Sources

GO Terms for Syndromic X-Linked Intellectual Disability Turner Type

Sources

Sources for Syndromic X-Linked Intellectual Disability Turner Type

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Syndromic X-Linked Intellectual Disability Turner Type (MRXST)

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

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

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Syndromic X-Linked Intellectual Disability Turner Type

Related Diseases for Syndromic X-Linked Intellectual Disability Turner Type

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

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

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

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

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

Genetic Tests for Syndromic X-Linked Intellectual Disability Turner Type

Anatomical Context for Syndromic X-Linked Intellectual Disability Turner Type

MalaCards organs/tissues related to Syndromic X-Linked Intellectual Disability Turner Type:

Publications for Syndromic X-Linked Intellectual Disability Turner Type

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

Genes for Syndromic X-Linked Intellectual Disability Turner Type

Genes related to Syndromic X-Linked Intellectual Disability Turner Type (0 elite genes):

Variations for Syndromic X-Linked Intellectual Disability Turner Type

Expression for Syndromic X-Linked Intellectual Disability Turner Type

Pathways for Syndromic X-Linked Intellectual Disability Turner Type

GO Terms for Syndromic X-Linked Intellectual Disability Turner Type

Sources for Syndromic X-Linked Intellectual Disability Turner Type