MCID: MNT303
MIFTS: 28

Mental Retardation, X-Linked, Syndromic, Cabezas Type

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

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, Cabezas Type

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

Name: Mental Retardation, X-Linked, Syndromic, Cabezas Type 57
Mental Retardation, X-Linked, with Short Stature 57 13 73
Cabezas Syndrome 57 53 75
Mental Retardation, X-Linked, with Short Stature, Hypogonadism, and Abnormal Gait 57 73
Syndromic X-Linked Mental Retardation, Cabezas Type 29 6
Mental Retardation, X-Linked, Syndromic 15 57 13
Mrxs15 57 75
Mrxsc 57 75
Mrss 57 75
Mental Retardation X-Linked with Short Stature Small Testes Muscle Wasting and Tremor 75
Mental Retardation X-Linked, with Short Stature, Hypogonadism, and Abnormal Gait 75
Mental Retardation X-Linked with Brachydactyly and Macroglossia 75
Mental Retardation X-Linked-Hypotonic Facies Syndrome Type 2 75
Cabezas Type of X-Linked Syndromic Intellectual Disability 53
Mental Retardation, X-Linked, with Short Stature; Mrss 57
Mental Retardation X-Linked Syndromic, Cabezas Type 75
Mental Retardation, X-Linked, Syndromic 15; Mrxs15 57
Mental Retardation, X-Linked, Syndromic, Type 15 40
Intellectual Disability, X-Linked, Syndromic 15 53
Mental Retardation X-Linked, with Short Stature 75
Cul4b-Related X-Linked Intellectual Disability 53
X-Linked Intellectual Disability, Cabezas Type 53
Cabezas X-Linked Mental Retardation Syndrome 75
Mental Retardation, X-Linked, Syndromic, 15 75
Intellectual Deficit X-Linked Cabezas Type 75
Mrxhf2 75

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
dysmorphic facial features are variable


HPO:

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


Classifications:



Summaries for Mental Retardation, X-Linked, Syndromic, Cabezas Type

NIH Rare Diseases : 53 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.

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Cabezas Type, also known as mental retardation, x-linked, with short stature, is related to mental retardation, x-linked, syndromic, chudley-schwartz type and syndromic x-linked intellectual disability cabezas type, and has symptoms including tremor and gait ataxia. An important gene associated with Mental Retardation, X-Linked, Syndromic, Cabezas Type is CUL4B (Cullin 4B). Affiliated tissues include testes, and related phenotypes are macrocephaly and short neck

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Mental Retardation, X-Linked, Syndromic, Cabezas Type

Diseases related to Mental Retardation, X-Linked, Syndromic, Cabezas Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, syndromic, chudley-schwartz type 11.1
2 syndromic x-linked intellectual disability cabezas type 10.9

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, Cabezas Type

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
tremor
ventriculomegaly
mental retardation
ataxic gait
abnormal gait
more
Head And Neck Mouth:
macroglossia
macrostomia
prominent lower lip

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

Genitourinary External Genitalia Male:
hypospadias
small penis

Skeletal:
joint laxity

Chest Breasts:
gynecomastia

Muscle Soft Tissue:
hypotonia
atrophy of the lower leg muscles

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

Skin Nails Hair Skin:
striae

Growth Height:
short stature (5th percentile)

Voice:
impaired/absent speech

Skeletal Spine:
kyphosis

Head And Neck Nose:
depressed nasal bridge
large bulbous nose

GenitourinaryInternal GenitaliaMale:
cryptorchidism
small testes

Skeletal Hands:
brachydactyly
small hands

Head And Neck Face:
high forehead
prognathia
coarse face

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

Head And Neck Head:
macrocephaly, relative

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

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

Head And Neck Eyes:
small, downslanting palpebral fissures


Clinical features from OMIM:

300354

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

32 (show top 50) (show all 79)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 frequent (33%) HP:0000256
2 short neck 32 hallmark (90%) HP:0000470
3 obesity 32 frequent (33%) HP:0001513
4 high palate 32 frequent (33%) HP:0000218
5 hyperhidrosis 32 occasional (7.5%) HP:0000975
6 intellectual disability 32 HP:0001249
7 seizures 32 very rare (1%) HP:0001250
8 tremor 32 very rare (1%) HP:0001337
9 eeg abnormality 32 occasional (7.5%) HP:0002353
10 scoliosis 32 frequent (33%) HP:0002650
11 kyphosis 32 occasional (7.5%) HP:0002808
12 inguinal hernia 32 hallmark (90%) HP:0000023
13 macroglossia 32 HP:0000158
14 coarse facial features 32 HP:0000280
15 mandibular prognathia 32 HP:0000303
16 depressed nasal bridge 32 HP:0005280
17 open bite 32 hallmark (90%) HP:0010807
18 delayed speech and language development 32 very rare (1%) HP:0000750
19 pes planus 32 very rare (1%) HP:0001763
20 microcephaly 32 occasional (7.5%) HP:0000252
21 short stature 32 frequent (33%) HP:0004322
22 delayed puberty 32 HP:0000823
23 intellectual disability, severe 32 hallmark (90%) HP:0010864
24 immunodeficiency 32 occasional (7.5%) HP:0002721
25 acanthosis nigricans 32 occasional (7.5%) HP:0000956
26 thick lower lip vermilion 32 very rare (1%) HP:0000179
27 short palm 32 hallmark (90%) HP:0004279
28 joint hyperflexibility 32 occasional (7.5%) HP:0005692
29 epicanthus 32 occasional (7.5%) HP:0000286
30 short foot 32 very rare (1%) HP:0001773
31 absent speech 32 hallmark (90%) HP:0001344
32 biparietal narrowing 32 occasional (7.5%) HP:0004422
33 cryptorchidism 32 HP:0000028
34 cubitus valgus 32 occasional (7.5%) HP:0002967
35 gait ataxia 32 very rare (1%) HP:0002066
36 pes cavus 32 frequent (33%) HP:0001761
37 abnormality of the pinna 32 HP:0000377
38 ventriculomegaly 32 HP:0002119
39 cachexia 32 frequent (33%) HP:0004326
40 hypogonadism 32 occasional (7.5%) HP:0000135
41 intellectual disability, moderate 32 hallmark (90%) HP:0002342
42 wide mouth 32 hallmark (90%) HP:0000154
43 short philtrum 32 hallmark (90%) HP:0000322
44 hypospadias 32 HP:0000047
45 clinodactyly of the 5th finger 32 hallmark (90%) HP:0004209
46 decreased testicular size 32 very rare (1%) HP:0008734
47 small hand 32 hallmark (90%) HP:0200055
48 striae distensae 32 HP:0001065
49 downslanted palpebral fissures 32 hallmark (90%) HP:0000494
50 brachydactyly 32 occasional (7.5%) HP:0001156

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


tremor, gait ataxia

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, Cabezas Type

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic, Cabezas Type

Genetic Tests for Mental Retardation, X-Linked, Syndromic, Cabezas Type

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

# Genetic test Affiliating Genes
1 Syndromic X-Linked Mental Retardation, Cabezas Type 29 CUL4B

Anatomical Context for Mental Retardation, X-Linked, Syndromic, Cabezas Type

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

41
Testes

Publications for Mental Retardation, X-Linked, Syndromic, Cabezas Type

Variations for Mental Retardation, X-Linked, Syndromic, Cabezas Type

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

75
# 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, Cabezas Type:

6
(show all 36)
# 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.1714C> T (p.Arg572Cys) single nucleotide variant Pathogenic rs121434615 GRCh38 Chromosome X, 120539349: 120539349
3 CUL4B NM_003588.3(CUL4B): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121434616 GRCh37 Chromosome X, 119678034: 119678034
4 CUL4B NM_003588.3(CUL4B): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121434616 GRCh38 Chromosome X, 120544179: 120544179
5 CUL4B NM_003588.3(CUL4B): c.901-2A> G single nucleotide variant Pathogenic rs786200913 GRCh38 Chromosome X, 120545519: 120545519
6 CUL4B NM_003588.3(CUL4B): c.901-2A> G single nucleotide variant Pathogenic rs786200913 GRCh37 Chromosome X, 119679374: 119679374
7 CUL4B NM_003588.3(CUL4B): c.1911C> T (p.Cys637=) single nucleotide variant Benign/Likely benign rs148700620 GRCh37 Chromosome X, 119672060: 119672060
8 CUL4B NM_003588.3(CUL4B): c.1911C> T (p.Cys637=) single nucleotide variant Benign/Likely benign rs148700620 GRCh38 Chromosome X, 120538205: 120538205
9 CUL4B NM_003588.3(CUL4B): c.1906+1G> T single nucleotide variant Pathogenic rs797044862 GRCh38 Chromosome X, 120538659: 120538659
10 CUL4B NM_003588.3(CUL4B): c.1906+1G> T single nucleotide variant Pathogenic rs797044862 GRCh37 Chromosome X, 119672514: 119672514
11 CUL4B NM_003588.3(CUL4B): c.149C> T (p.Pro50Leu) single nucleotide variant Pathogenic rs869320682 GRCh37 Chromosome X, 119694399: 119694399
12 CUL4B NM_003588.3(CUL4B): c.149C> T (p.Pro50Leu) single nucleotide variant Pathogenic rs869320682 GRCh38 Chromosome X, 120560544: 120560544
13 CUL4B NM_003588.3(CUL4B): c.1736_1737delCA (p.Thr579Argfs) deletion Pathogenic rs1057519396 GRCh38 Chromosome X, 120539326: 120539327
14 CUL4B NM_003588.3(CUL4B): c.1736_1737delCA (p.Thr579Argfs) deletion Pathogenic rs1057519396 GRCh37 Chromosome X, 119673181: 119673182
15 CUL4B NM_003588.3(CUL4B): c.901-10delT deletion Benign rs781301993 GRCh37 Chromosome X, 119679382: 119679382
16 CUL4B NM_003588.3(CUL4B): c.901-10delT deletion Benign rs781301993 GRCh38 Chromosome X, 120545527: 120545527
17 CUL4B NM_003588.3(CUL4B): c.429_431delCTC (p.Ser146del) deletion Likely benign rs766883719 GRCh38 Chromosome X, 120560262: 120560264
18 CUL4B NM_003588.3(CUL4B): c.429_431delCTC (p.Ser146del) deletion Likely benign rs766883719 GRCh37 Chromosome X, 119694117: 119694119
19 CUL4B NM_003588.3(CUL4B): c.1007_1011delTTATA (p.Ile336Lysfs) deletion Pathogenic rs1085307760 GRCh37 Chromosome X, 119678462: 119678466
20 CUL4B NM_003588.3(CUL4B): c.1007_1011delTTATA (p.Ile336Lysfs) deletion Pathogenic rs1085307760 GRCh38 Chromosome X, 120544607: 120544611
21 CUL4B NM_003588.3(CUL4B): c.2577G> C (p.Lys859Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 119664026: 119664026
22 CUL4B NM_003588.3(CUL4B): c.2577G> C (p.Lys859Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 120530171: 120530171
23 CUL4B NM_003588.3(CUL4B): c.1160A> G (p.Gln387Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 119678036: 119678036
24 CUL4B NM_003588.3(CUL4B): c.1160A> G (p.Gln387Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 120544181: 120544181
25 CUL4B NM_003588.3(CUL4B): c.348G> T (p.Gln116His) single nucleotide variant Uncertain significance rs755306871 GRCh38 Chromosome X, 120560345: 120560345
26 CUL4B NM_003588.3(CUL4B): c.348G> T (p.Gln116His) single nucleotide variant Uncertain significance rs755306871 GRCh37 Chromosome X, 119694200: 119694200
27 CUL4B NM_003588.3(CUL4B): c.117A> T (p.Arg39Ser) single nucleotide variant Uncertain significance rs757541076 GRCh38 Chromosome X, 120560576: 120560576
28 CUL4B NM_003588.3(CUL4B): c.117A> T (p.Arg39Ser) single nucleotide variant Uncertain significance rs757541076 GRCh37 Chromosome X, 119694431: 119694431
29 CUL4B NM_003588.3(CUL4B): c.2688G> A (p.Arg896=) single nucleotide variant Benign rs143580749 GRCh37 Chromosome X, 119660670: 119660670
30 CUL4B NM_003588.3(CUL4B): c.2688G> A (p.Arg896=) single nucleotide variant Benign rs143580749 GRCh38 Chromosome X, 120526815: 120526815
31 CUL4B NM_003588.3(CUL4B): c.1458_1459del (p.Val487Serfs) deletion Pathogenic GRCh37 Chromosome X, 119675495: 119675496
32 CUL4B NM_003588.3(CUL4B): c.1458_1459del (p.Val487Serfs) deletion Pathogenic GRCh38 Chromosome X, 120541640: 120541641
33 CUL4B NM_003588.3(CUL4B): c.1008_1010delTAT (p.Ile337del) deletion Uncertain significance GRCh37 Chromosome X, 119678463: 119678465
34 CUL4B NM_003588.3(CUL4B): c.1008_1010delTAT (p.Ile337del) deletion Uncertain significance GRCh38 Chromosome X, 120544608: 120544610
35 CUL4B NM_003588.3(CUL4B): c.373C> G (p.Leu125Val) single nucleotide variant Uncertain significance rs760294805 GRCh37 Chromosome X, 119694175: 119694175
36 CUL4B NM_003588.3(CUL4B): c.373C> G (p.Leu125Val) single nucleotide variant Uncertain significance rs760294805 GRCh38 Chromosome X, 120560320: 120560320

Expression for Mental Retardation, X-Linked, Syndromic, Cabezas Type

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

Pathways for Mental Retardation, X-Linked, Syndromic, Cabezas Type

GO Terms for Mental Retardation, X-Linked, Syndromic, Cabezas Type

Sources for Mental Retardation, X-Linked, Syndromic, Cabezas Type

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