MRXST
MCID: SYN090
MIFTS: 25

Syndromic X-Linked Intellectual Disability Turner Type (MRXST)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

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:

Orphanet: 58  
Rare neurological diseases


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

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:

(showing 15, show less)
# 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:



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:

58 31 (showing 44, show less)
# 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%)

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

Search Clinical Trials , NIH Clinical Center 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:

40
Eye

Publications for Syndromic X-Linked Intellectual Disability Turner Type

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

(showing 2, show less)
# Title Authors PMID Year
1
Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome. 61
16477654 2006
2
X-linked mental retardation syndrome: three brothers with the Brooks-Wisniewski-Brown syndrome. 61
8826449 1996

Variations for Syndromic X-Linked Intellectual Disability Turner Type

Expression for Syndromic X-Linked Intellectual Disability Turner Type

Search GEO for disease gene expression data 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....