MRXS15
MCID: MNT109
MIFTS: 35

Mental Retardation, X-Linked, Syndromic 15 (MRXS15) malady

Categories: Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases, Fetal diseases, Eye diseases, Cardiovascular diseases

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic 15

Aliases & Descriptions for Mental Retardation, X-Linked, Syndromic 15:

Name: Mental Retardation, X-Linked, Syndromic 15 54 12 13
Mental Retardation, X-Linked, with Short Stature 54 13 69
Syndromic X-Linked Intellectual Disability Cabezas Type 12 14
Mental Retardation X-Linked Syndromic, Cabezas Type 66 29
Cabezas Syndrome 50 66
Mrxs15 12 66
Mrxsc 12 66
Mrss 12 66
Mental Retardation X-Linked with Short Stature Small Testes Muscle Wasting and Tremor 66
Mental Retardation, X-Linked, with Short Stature, Hypogonadism, and Abnormal Gait 69
Mental Retardation X-Linked, with Short Stature, Hypogonadism, and Abnormal Gait 66
X-Linked Mental Retardation with Short Stature, Hypogonadism, and Abnormal Gait 12
Mental Retardation X-Linked with Brachydactyly and Macroglossia 66
Mental Retardation X-Linked-Hypotonic Facies Syndrome Type 2 66
Cabezas Syndrome; Syndromic X-Linked Mental Retardation 15 12
Cabezas Type of X-Linked Syndromic Intellectual Disability 50
Intellectual Disability, X-Linked, Syndromic 15 50
Mental Retardation X-Linked, with Short Stature 66
X-Linked Mental Retardation with Short Stature 12
Cul4b-Related X-Linked Intellectual Disability 50
X-Linked Intellectual Disability, Cabezas Type 50
Cabezas X-Linked Mental Retardation Syndrome 66
Mental Retardation, X-Linked, Syndromic, 15 66
Intellectual Deficit X-Linked Cabezas Type 66
Mrxhf2 66

Characteristics:

HPO:

32
mental retardation, x-linked, syndromic 15:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 300354
Disease Ontology 12 DOID:0060822
ICD10 33 Q87.8
MedGen 40 C1845861
MeSH 42 D038901

Summaries for Mental Retardation, X-Linked, Syndromic 15

UniProtKB/Swiss-Prot : 66 Mental retardation, X-linked, syndromic, 15: A syndromic form of X-linked mental retardation characterized by severe intellectual deficit associated with short stature, craniofacial dysmorphism, small testes, muscle wasting in lower legs, kyphosis, joint hyperextensibility, pes cavus, small feet, and abnormalities of the toes. Additional neurologic manifestations include speech delay and impairment, tremor, seizures, gait ataxia, hyperactivity and decreased attention span.

MalaCards based summary : Mental Retardation, X-Linked, Syndromic 15, also known as mental retardation, x-linked, with short stature, is related to mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor and mental retardation, x-linked, syndromic, chudley-schwartz type, and has symptoms including cachexia, seizures and tremor. An important gene associated with Mental Retardation, X-Linked, Syndromic 15 is CUL4B (Cullin 4B). Affiliated tissues include testes.

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and bnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has material basis in mutation in the CUL4B gene on chromosome Xq23.

OMIM : 54 This form of syndromic X-linked mental retardation is characterized primarily by short stature, hypogonadism, and... (300354) more...

Related Diseases for Mental Retardation, X-Linked, Syndromic 15

Graphical network of the top 20 diseases related to Mental Retardation, X-Linked, Syndromic 15:



Diseases related to Mental Retardation, X-Linked, Syndromic 15

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic 15

Symptoms by clinical synopsis from OMIM:

300354

Clinical features from OMIM:

300354

Human phenotypes related to Mental Retardation, X-Linked, Syndromic 15:

32 (show top 50) (show all 66)
id Description HPO Frequency HPO Source Accession
1 cachexia 32 HP:0004326
2 seizures 32 HP:0001250
3 tremor 32 HP:0001337
4 joint laxity 32 HP:0001388
5 gait ataxia 32 HP:0002066
6 macrocephaly 32 HP:0000256
7 short neck 32 HP:0000470
8 obesity 32 HP:0001513
9 high palate 32 HP:0000218
10 hyperhidrosis 32 HP:0000975
11 intellectual disability 32 HP:0001249
12 muscular hypotonia 32 HP:0001252
13 eeg abnormality 32 HP:0002353
14 scoliosis 32 HP:0002650
15 kyphosis 32 HP:0002808
16 inguinal hernia 32 HP:0000023
17 macroglossia 32 HP:0000158
18 coarse facial features 32 HP:0000280
19 open bite 32 HP:0010807
20 pes planus 32 HP:0001763
21 microcephaly 32 HP:0000252
22 short stature 32 HP:0004322
23 delayed puberty 32 HP:0000823
24 intellectual disability, severe 32 HP:0010864
25 immunodeficiency 32 HP:0002721
26 acanthosis nigricans 32 HP:0000956
27 thick lower lip vermilion 32 HP:0000179
28 short palm 32 HP:0004279
29 joint hyperflexibility 32 HP:0005692
30 epicanthus 32 HP:0000286
31 short foot 32 HP:0001773
32 absent speech 32 HP:0001344
33 biparietal narrowing 32 HP:0004422
34 cryptorchidism 32 HP:0000028
35 cubitus valgus 32 HP:0002967
36 pes cavus 32 HP:0001761
37 hypogonadism 32 HP:0000135
38 intellectual disability, moderate 32 HP:0002342
39 wide mouth 32 HP:0000154
40 short philtrum 32 HP:0000322
41 hypospadias 32 HP:0000047
42 clinodactyly of the 5th finger 32 HP:0004209
43 decreased testicular size 32 HP:0008734
44 small hand 32 HP:0200055
45 striae distensae 32 HP:0001065
46 downslanted palpebral fissures 32 HP:0000494
47 brachydactyly syndrome 32 HP:0001156
48 sandal gap 32 HP:0001852
49 hypoplasia of penis 32 HP:0008736
50 abnormal hair pattern 32 HP:0010720

UMLS symptoms related to Mental Retardation, X-Linked, Syndromic 15:


tremor, joint laxity, gait ataxia

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic 15

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Mental Retardation, X-Linked, Syndromic 15

Genetic Tests for Mental Retardation, X-Linked, Syndromic 15

Genetic tests related to Mental Retardation, X-Linked, Syndromic 15:

id Genetic test Affiliating Genes
1 Syndromic X-Linked Mental Retardation, Cabezas Type 29

Anatomical Context for Mental Retardation, X-Linked, Syndromic 15

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic 15:

39
Testes

Publications for Mental Retardation, X-Linked, Syndromic 15

Variations for Mental Retardation, X-Linked, Syndromic 15

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, Syndromic 15:

66
id Symbol AA change Variation ID SNP ID
1 CUL4B p.Arg572Cys VAR_032274 rs121434615
2 CUL4B p.Val745Ala VAR_032275

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic 15:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CUL4B NM_003588.3(CUL4B): c.1714C> T (p.Arg572Cys) single nucleotide variant Pathogenic rs121434615 GRCh37 Chromosome X, 119673204: 119673204
2 CUL4B NM_003588.3(CUL4B): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121434616 GRCh37 Chromosome X, 119678034: 119678034
3 CUL4B NM_003588.3(CUL4B): c.901-2A> G single nucleotide variant Pathogenic rs786200913 GRCh38 Chromosome X, 120545519: 120545519
4 CUL4B NM_003588.3(CUL4B): c.1906+1G> T single nucleotide variant Pathogenic rs797044862 GRCh38 Chromosome X, 120538659: 120538659
5 CUL4B NM_003588.3(CUL4B): c.149C> T (p.Pro50Leu) single nucleotide variant Pathogenic rs869320682 GRCh37 Chromosome X, 119694399: 119694399
6 CUL4B NM_003588.3(CUL4B): c.1736_1737delCA (p.Thr579Argfs) deletion Pathogenic rs1057519396 GRCh38 Chromosome X, 120539326: 120539327

Expression for Mental Retardation, X-Linked, Syndromic 15

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic 15.

Pathways for Mental Retardation, X-Linked, Syndromic 15

GO Terms for Mental Retardation, X-Linked, Syndromic 15

Cellular components related to Mental Retardation, X-Linked, Syndromic 15 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 8.96 DSC2 DSC3
2 desmosome GO:0030057 8.62 DSC2 DSC3

Sources for Mental Retardation, X-Linked, Syndromic 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....