MCID: MNT109
MIFTS: 36

Mental Retardation, X-Linked, Syndromic 15

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

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

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic 15:

Name: Mental Retardation, X-Linked, Syndromic 15 54 12 13
Syndromic X-Linked Intellectual Disability Cabezas Type 12 14
Mental Retardation, X-Linked, with Short Stature 13 69
Cabezas Syndrome 50 71
Mrxs15 12 71
Mrxsc 12 71
Mrss 12 71
Mental Retardation X-Linked with Short Stature Small Testes Muscle Wasting and Tremor 71
Mental Retardation, X-Linked, with Short Stature, Hypogonadism, and Abnormal Gait 69
Mental Retardation X-Linked, with Short Stature, Hypogonadism, and Abnormal Gait 71
X-Linked Mental Retardation with Short Stature, Hypogonadism, and Abnormal Gait 12
Mental Retardation X-Linked with Brachydactyly and Macroglossia 71
Mental Retardation X-Linked-Hypotonic Facies Syndrome Type 2 71
Cabezas Syndrome; Syndromic X-Linked Mental Retardation 15 12
Cabezas Type of X-Linked Syndromic Intellectual Disability 50
Mental Retardation X-Linked Syndromic, Cabezas Type 71
Syndromic X-Linked Mental Retardation, Cabezas Type 29
Intellectual Disability, X-Linked, Syndromic 15 50
Mental Retardation X-Linked, with Short Stature 71
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 71
Mental Retardation, X-Linked, Syndromic, 15 71
Intellectual Deficit X-Linked Cabezas Type 71
Mrxhf2 71

Characteristics:

OMIM:

54
Miscellaneous:
dysmorphic facial features are variable

Inheritance:
x-linked recessive


HPO:

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


Classifications:



Summaries for Mental Retardation, X-Linked, Syndromic 15

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 85293disease definitionx-linkedintellectual disability, cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. an abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. the syndrome has been described in six boys from three generations of the same family. transmission is x-linked and the causative gene has been localised to the q24-q25 region of the x chromosome.visit the orphanet disease page for more resources. last updated: 2/1/2007

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

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
This form of syndromic X-linked mental retardation is characterized primarily by short stature, hypogonadism, and abnormal gait, with other more variable features such as speech delay, prominent lower lip, and tremor (Cabezas et al., 2000). (300354)

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.

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

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

Symptoms via clinical synopsis from OMIM:

54

Muscle Soft Tissue:
hypotonia
atrophy of the lower leg muscles

Head And Neck- Mouth:
macroglossia
macrostomia
prominent lower lip

Skeletal- Feet:
brachydactyly
pes cavus
small feet
pes planus
wide sandal gap

Head And Neck- Face:
high forehead
coarse face
prognathia

Skeletal:
joint laxity

Genitourinary- External Genitalia Male:
hypospadias
small penis

Genitourinary- Internal Genitalia Male:
cryptorchidism
small testes

Endocrine Features:
delayed puberty (in some patients)
hypogonadism (in some patients)

Skin Nails & Hair- Skin:
striae

Growth- Height:
short stature (5th percentile)

Voice:
impaired/absent speech

Head And Neck- Ears:
malformed ears
hypoplastic ear lobes
abnormally positioned ears

Skeletal- Hands:
brachydactyly
small hands

Neurologic- Central Nervous System:
mental retardation
tremor
lack of speech development
ventriculomegaly
thin corpus callosum (in some patients)
more
Head And Neck- Nose:
depressed nasal bridge
large bulbous nose

Skeletal- Spine:
kyphosis

Head And Neck- Head:
macrocephaly, relative

Neurologic- Behavioral Psychiatric Manifestations:
hyperactivity
aggressive outbursts
mood swings
decreased attention span

Chest- Breasts:
gynecomastia

Growth- Weight:
central obesity
low birthweight (<10th percentile)

Head And Neck- Eyes:
small, downslanting palpebral fissures


Clinical features from OMIM:

300354

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

32 (show top 50) (show all 69)
id Description HPO Frequency HPO Source Accession
1 short stature 32 frequent (33%) HP:0004322
2 scoliosis 32 frequent (33%) HP:0002650
3 macroglossia 32 HP:0000158
4 brachydactyly 32 occasional (7.5%) HP:0001156
5 tremor 32 very rare (1%) HP:0001337
6 wide mouth 32 hallmark (90%) HP:0000154
7 intellectual disability, severe 32 hallmark (90%) HP:0010864
8 absent speech 32 hallmark (90%) HP:0001344
9 seizures 32 very rare (1%) HP:0001250
10 microcephaly 32 occasional (7.5%) HP:0000252
11 micropenis 32 HP:0000054
12 coarse facial features 32 HP:0000280
13 joint laxity 32 HP:0001388
14 kyphosis 32 occasional (7.5%) HP:0002808
15 hypospadias 32 HP:0000047
16 cryptorchidism 32 HP:0000028
17 short neck 32 hallmark (90%) HP:0000470
18 short philtrum 32 hallmark (90%) HP:0000322
19 macrocephaly 32 frequent (33%) HP:0000256
20 inguinal hernia 32 hallmark (90%) HP:0000023
21 intellectual disability 32 HP:0001249
22 pes cavus 32 frequent (33%) HP:0001761
23 immunodeficiency 32 occasional (7.5%) HP:0002721
24 hyperactivity 32 hallmark (90%) HP:0000752
25 aggressive behavior 32 very rare (1%) HP:0000718
26 delayed puberty 32 HP:0000823
27 gait ataxia 32 very rare (1%) HP:0002066
28 motor delay 32 very rare (1%) HP:0001270
29 synophrys 32 hallmark (90%) HP:0000664
30 toe syndactyly 32 occasional (7.5%) HP:0001770
31 prominent nose 32 hallmark (90%) HP:0000448
32 hypogonadism 32 occasional (7.5%) HP:0000135
33 relative macrocephaly 32 HP:0004482
34 downslanted palpebral fissures 32 hallmark (90%) HP:0000494
35 pes planus 32 very rare (1%) HP:0001763
36 broad-based gait 32 frequent (33%) HP:0002136
37 high palate 32 frequent (33%) HP:0000218
38 joint hyperflexibility 32 occasional (7.5%) HP:0005692
39 obesity 32 frequent (33%) HP:0001513
40 blepharophimosis 32 frequent (33%) HP:0000581
41 epicanthus 32 occasional (7.5%) HP:0000286
42 sandal gap 32 frequent (33%) HP:0001852
43 muscular hypotonia 32 HP:0001252
44 cubitus valgus 32 occasional (7.5%) HP:0002967
45 gynecomastia 32 very rare (1%) HP:0000771
46 acanthosis nigricans 32 occasional (7.5%) HP:0000956
47 hyperhidrosis 32 occasional (7.5%) HP:0000975
48 abdominal obesity 32 very rare (1%) HP:0012743
49 intellectual disability, moderate 32 hallmark (90%) HP:0002342
50 open bite 32 hallmark (90%) HP:0010807

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 Drugs
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:

71
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

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

id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 8.8 DSC2 HAPLN3 SIGLEC1

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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