MCID: MNT248
MIFTS: 22

Mental Retardation, X-Linked 102

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

Aliases & Classifications for Mental Retardation, X-Linked 102

MalaCards integrated aliases for Mental Retardation, X-Linked 102:

Name: Mental Retardation, X-Linked 102 57 75 29 6
Mrx102 57 75
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome 59
Mental Retardation, X-Linked, Type 102 40

Characteristics:

Orphanet epidemiological data:

59
x-linked intellectual disability-hypotonia-movement disorder syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

OMIM:

57
Miscellaneous:
onset in infancy
no consistent dysmorphic facial phenotype
affected girls have de novo heterozygous mutations consistent with x-linked dominant inheritance
affected boys in 3 unrelated families have been reported, consistent with x-linked recessive inheritance (last curated september, 2015)

Inheritance:
x-linked recessive
x-linked dominant


HPO:

32
mental retardation, x-linked 102:
Onset and clinical course infantile onset
Inheritance x-linked dominant inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Mental Retardation, X-Linked 102

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked 102: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX102 features include mild to severe intellectual disability, hypotonia, movement disorders, behavior problems, corpus callosum hypoplasia, and epilepsy. Additionally, patients manifest variable non-neurologic features such as joint hyperlaxity, skin pigmentary abnormalities, cleft lip and/or palate, hearing and visual impairment, and precocious puberty.

MalaCards based summary : Mental Retardation, X-Linked 102, is also known as mrx102. An important gene associated with Mental Retardation, X-Linked 102 is DDX3X (DEAD-Box Helicase 3 X-Linked). Affiliated tissues include skin, and related phenotypes are precocious puberty and intellectual disability

Description from OMIM: 300958

Symptoms & Phenotypes for Mental Retardation, X-Linked 102

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
hypotonia

Neurologic Central Nervous System:
spasticity (in some patients)
seizures (in some patients)
enlarged ventricles (in some patients)
cortical malformations (in some patients)
intellectual disability, variable
more
Head And Neck Head:
microcephaly (in some patients)

Head And Neck Face:
dysmorphic facial features (in some patients)

Head And Neck Eyes:
visual problems (in some patients)

Skin Nails Hair Skin:
pigmentation abnormalities (in some patients)

Endocrine Features:
precocious puberty (in some patients)

Head And Neck Mouth:
cleft lip (in some patients)
cleft palate (in some patients)

Skeletal Spine:
scoliosis (in some patients)

Head And Neck Ears:
hearing loss (in some patients)

Growth Weight:
low weight (in some patients)

Skeletal:
joint hyperlaxity (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autistic spectrum disorder (in some patients)
hyperactivity (in some patients)
aggression (in some patients)


Clinical features from OMIM:

300958

Human phenotypes related to Mental Retardation, X-Linked 102:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 precocious puberty 32 occasional (7.5%) HP:0000826
2 intellectual disability 32 frequent (33%) HP:0001249
3 seizures 32 occasional (7.5%) HP:0001250
4 spasticity 32 occasional (7.5%) HP:0001257
5 scoliosis 32 occasional (7.5%) HP:0002650
6 hearing impairment 32 occasional (7.5%) HP:0000365
7 abnormal facial shape 32 occasional (7.5%) HP:0001999
8 dyskinesia 32 occasional (7.5%) HP:0100660
9 microcephaly 32 occasional (7.5%) HP:0000252
10 cleft palate 32 occasional (7.5%) HP:0000175
11 ventriculomegaly 32 occasional (7.5%) HP:0002119
12 aggressive behavior 32 occasional (7.5%) HP:0000718
13 cleft upper lip 32 occasional (7.5%) HP:0000204
14 decreased body weight 32 occasional (7.5%) HP:0004325
15 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
16 hyperactivity 32 occasional (7.5%) HP:0000752
17 generalized hypotonia 32 HP:0001290
18 broad-based gait 32 occasional (7.5%) HP:0002136

Drugs & Therapeutics for Mental Retardation, X-Linked 102

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 102

Genetic Tests for Mental Retardation, X-Linked 102

Genetic tests related to Mental Retardation, X-Linked 102:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked 102 29 DDX3X

Anatomical Context for Mental Retardation, X-Linked 102

MalaCards organs/tissues related to Mental Retardation, X-Linked 102:

41
Skin

Publications for Mental Retardation, X-Linked 102

Variations for Mental Retardation, X-Linked 102

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked 102:

75 (show all 18)
# Symbol AA change Variation ID SNP ID
1 DDX3X p.Ile214Thr VAR_075731
2 DDX3X p.Ala233Val VAR_075732 rs796052223
3 DDX3X p.Leu235Pro VAR_075734 rs796052224
4 DDX3X p.Val300Phe VAR_075735
5 DDX3X p.Arg326His VAR_075736 rs797045025
6 DDX3X p.Arg351Gln VAR_075737 rs1057518707Mental
7 DDX3X p.Arg362Cys VAR_075738 rs797045026
8 DDX3X p.Arg376Cys VAR_075739 rs796052231
9 DDX3X p.Leu392Pro VAR_075740 rs796052232
10 DDX3X p.Gln417Pro VAR_075741 rs796052233
11 DDX3X p.Arg475Gly VAR_075742
12 DDX3X p.Arg480Ser VAR_075743
13 DDX3X p.Arg488His VAR_075744 rs796052235
14 DDX3X p.Ile507Thr VAR_075745 rs797045024
15 DDX3X p.Asn509Ile VAR_075746
16 DDX3X p.Ile514Thr VAR_075747 rs796052226
17 DDX3X p.Arg534His VAR_075748
18 DDX3X p.Pro568Leu VAR_075750 rs1057519430Mental

ClinVar genetic disease variations for Mental Retardation, X-Linked 102:

6
(show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 DDX3X NM_001356.4(DDX3X): c.1126C> T (p.Arg376Cys) single nucleotide variant Pathogenic rs796052231 GRCh37 Chromosome X, 41204533: 41204533
2 DDX3X NM_001356.4(DDX3X): c.1126C> T (p.Arg376Cys) single nucleotide variant Pathogenic rs796052231 GRCh38 Chromosome X, 41345280: 41345280
3 DDX3X NM_001193416.2(DDX3X): c.1463G> A (p.Arg488His) single nucleotide variant Pathogenic/Likely pathogenic rs796052235 GRCh37 Chromosome X, 41205629: 41205629
4 DDX3X NM_001193416.2(DDX3X): c.1463G> A (p.Arg488His) single nucleotide variant Pathogenic/Likely pathogenic rs796052235 GRCh38 Chromosome X, 41346376: 41346376
5 DDX3X NM_001356.4(DDX3X): c.1520T> C (p.Ile507Thr) single nucleotide variant Pathogenic rs797045024 GRCh37 Chromosome X, 41205780: 41205780
6 DDX3X NM_001356.4(DDX3X): c.1520T> C (p.Ile507Thr) single nucleotide variant Pathogenic rs797045024 GRCh38 Chromosome X, 41346527: 41346527
7 DDX3X NM_001193416.2(DDX3X): c.977G> A (p.Arg326His) single nucleotide variant Pathogenic rs797045025 GRCh37 Chromosome X, 41203604: 41203604
8 DDX3X NM_001193416.2(DDX3X): c.977G> A (p.Arg326His) single nucleotide variant Pathogenic rs797045025 GRCh38 Chromosome X, 41344351: 41344351
9 DDX3X NM_001356.4(DDX3X): c.873C> A (p.Tyr291Ter) single nucleotide variant Pathogenic rs869320681 GRCh38 Chromosome X, 41344247: 41344247
10 DDX3X NM_001356.4(DDX3X): c.873C> A (p.Tyr291Ter) single nucleotide variant Pathogenic rs869320681 GRCh37 Chromosome X, 41203500: 41203500
11 DDX3X NM_001356.4(DDX3X): c.1084C> T (p.Arg362Cys) single nucleotide variant Pathogenic rs797045026 GRCh37 Chromosome X, 41204491: 41204491
12 DDX3X NM_001356.4(DDX3X): c.1084C> T (p.Arg362Cys) single nucleotide variant Pathogenic rs797045026 GRCh38 Chromosome X, 41345238: 41345238
13 DDX3X NM_001356.4(DDX3X): c.745G> T (p.Glu249Ter) single nucleotide variant Pathogenic rs752738546 GRCh37 Chromosome X, 41203055: 41203055
14 DDX3X NM_001356.4(DDX3X): c.745G> T (p.Glu249Ter) single nucleotide variant Pathogenic rs752738546 GRCh38 Chromosome X, 41343802: 41343802
15 DDX3X NM_001356.4(DDX3X): c.619C> T (p.Gln207Ter) single nucleotide variant Pathogenic rs869312692 GRCh37 Chromosome X, 41202544: 41202544
16 DDX3X NM_001356.4(DDX3X): c.619C> T (p.Gln207Ter) single nucleotide variant Pathogenic rs869312692 GRCh38 Chromosome X, 41343291: 41343291
17 DDX3X NM_001193417.2(DDX3X): c.529G> T (p.Gly177Ter) single nucleotide variant Likely pathogenic rs875989803 GRCh37 Chromosome X, 41202502: 41202502
18 DDX3X NM_001193417.2(DDX3X): c.529G> T (p.Gly177Ter) single nucleotide variant Likely pathogenic rs875989803 GRCh38 Chromosome X, 41343249: 41343249
19 DDX3X NM_001193417.2(DDX3X): c.856G> A (p.Gly286Ser) single nucleotide variant Likely pathogenic rs875989802 GRCh37 Chromosome X, 41203531: 41203531
20 DDX3X NM_001193417.2(DDX3X): c.856G> A (p.Gly286Ser) single nucleotide variant Likely pathogenic rs875989802 GRCh38 Chromosome X, 41344278: 41344278
21 DDX3X NM_001356.4(DDX3X): c.1052G> A (p.Arg351Gln) single nucleotide variant Likely pathogenic rs1057518707 GRCh37 Chromosome X, 41204459: 41204459
22 DDX3X NM_001356.4(DDX3X): c.1052G> A (p.Arg351Gln) single nucleotide variant Likely pathogenic rs1057518707 GRCh38 Chromosome X, 41345206: 41345206
23 DDX3X NM_001356.4(DDX3X): c.192dupA (p.Asp65Argfs) duplication Pathogenic rs1057519431 GRCh37 Chromosome X, 41200777: 41200777
24 DDX3X NM_001356.4(DDX3X): c.192dupA (p.Asp65Argfs) duplication Pathogenic rs1057519431 GRCh38 Chromosome X, 41341524: 41341524
25 DDX3X NM_001356.4(DDX3X): c.362G> T (p.Arg121Leu) single nucleotide variant Pathogenic rs1057519446 GRCh37 Chromosome X, 41201825: 41201825
26 DDX3X NM_001356.4(DDX3X): c.362G> T (p.Arg121Leu) single nucleotide variant Pathogenic rs1057519446 GRCh38 Chromosome X, 41342572: 41342572
27 DDX3X NM_001356.4(DDX3X): c.1703C> T (p.Pro568Leu) single nucleotide variant Pathogenic rs1057519430 GRCh37 Chromosome X, 41206199: 41206199
28 DDX3X NM_001356.4(DDX3X): c.1703C> T (p.Pro568Leu) single nucleotide variant Pathogenic rs1057519430 GRCh38 Chromosome X, 41346946: 41346946
29 DDX3X NM_001356.4(DDX3X): c.770dup (p.Asn257Lysfs) duplication Pathogenic GRCh38 Chromosome X, 41344034: 41344034
30 DDX3X NM_001356.4(DDX3X): c.770dup (p.Asn257Lysfs) duplication Pathogenic GRCh37 Chromosome X, 41203287: 41203287
31 DDX3X NM_001356.4(DDX3X): c.1099dup (p.Gln367Profs) duplication Pathogenic GRCh38 Chromosome X, 41345253: 41345253
32 DDX3X NM_001356.4(DDX3X): c.1099dup (p.Gln367Profs) duplication Pathogenic GRCh37 Chromosome X, 41204506: 41204506
33 DDX3X NM_001193416.2(DDX3X): c.1600C> T (p.Arg534Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 41205860: 41205860
34 DDX3X NM_001193416.2(DDX3X): c.1600C> T (p.Arg534Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 41346607: 41346607
35 DDX3X NM_001356.4(DDX3X): c.113A> G (p.Tyr38Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 41198298: 41198298
36 DDX3X NM_001356.4(DDX3X): c.113A> G (p.Tyr38Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 41339045: 41339045

Expression for Mental Retardation, X-Linked 102

Search GEO for disease gene expression data for Mental Retardation, X-Linked 102.

Pathways for Mental Retardation, X-Linked 102

GO Terms for Mental Retardation, X-Linked 102

Sources for Mental Retardation, X-Linked 102

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