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

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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

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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 intellectual disability and hearing impairment

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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 12)

#	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	alcohol-related neurodevelopmental disorder	10.4
6	microcephaly	10.4
7	hydrocephalus	10.4
8	myopia	10.4
9	entropion	10.4
10	mitochondrial disorders	10.4
11	encephalopathy	10.4
12	syndromic x-linked intellectual disability siderius type	9.5	SHROOM4 ACOT9

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

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

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

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

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Genetic Tests for Syndromic X-Linked Intellectual Disability Turner Type

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Anatomical Context for Syndromic X-Linked Intellectual Disability Turner Type

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

⁴⁰

Eye

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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

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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	6.58	DISEASES inferred ¹⁵
2	SHROOM4	Shroom Family Member 4	Protein Coding	6.32	DISEASES inferred ¹⁵
3	HUWE1	HECT, UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1	Protein Coding	6.29	DISEASES inferred ¹⁵
4	GSPT2	G1 To S Phase Transition 2	Protein Coding	6.22	DISEASES inferred ¹⁵
5	SLFN12	Schlafen Family Member 12	Protein Coding	6.2	DISEASES inferred ¹⁵

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Variations for Syndromic X-Linked Intellectual Disability Turner Type

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Expression for Syndromic X-Linked Intellectual Disability Turner Type

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

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Pathways for Syndromic X-Linked Intellectual Disability Turner Type

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GO Terms for Syndromic X-Linked Intellectual Disability Turner Type

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Sources for Syndromic X-Linked Intellectual Disability Turner Type

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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