MRX102
MCID: MNT248
MIFTS: 32

Mental Retardation, X-Linked 102 (MRX102)

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

Aliases & Classifications for Mental Retardation, X-Linked 102

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

Name: Mental Retardation, X-Linked 102 56 73 29 6
Mrx102 56 73
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome 58
Mental Retardation, X-Linked, Type 102 39

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability-hypotonia-movement disorder syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

OMIM:

56
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:

31
mental retardation, x-linked 102:
Onset and clinical course infantile onset
Inheritance x-linked dominant inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Mental Retardation, X-Linked 102

UniProtKB/Swiss-Prot : 73 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, also known as mrx102, is related to leukemia, acute myeloid and severe combined immunodeficiency. An important gene associated with Mental Retardation, X-Linked 102 is DDX3X (DEAD-Box Helicase 3 X-Linked). Affiliated tissues include skin, lung and testes, and related phenotypes are intellectual disability and spasticity

More information from OMIM: 300958 PS309530

Related Diseases for Mental Retardation, X-Linked 102

Symptoms & Phenotypes for Mental Retardation, X-Linked 102

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

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Obligate (100%) HP:0001249
2 spasticity 58 31 occasional (7.5%) Frequent (79-30%) HP:0001257
3 dyskinesia 58 31 occasional (7.5%) Frequent (79-30%) HP:0100660
4 microcephaly 58 31 occasional (7.5%) Frequent (79-30%) HP:0000252
5 hyperactivity 58 31 occasional (7.5%) Frequent (79-30%) HP:0000752
6 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
7 aggressive behavior 58 31 occasional (7.5%) Frequent (79-30%) HP:0000718
8 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
9 broad-based gait 58 31 occasional (7.5%) Frequent (79-30%) HP:0002136
10 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
11 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
12 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
13 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
14 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
15 abnormal facial shape 58 31 occasional (7.5%) Occasional (29-5%) HP:0001999
16 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
17 abnormality of skin pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001000
18 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
19 joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001388
20 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
21 oral cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0000202
22 cortical dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002539
23 cleft palate 31 occasional (7.5%) HP:0000175
24 cleft upper lip 31 occasional (7.5%) HP:0000204
25 decreased body weight 31 occasional (7.5%) HP:0004325
26 abnormality of vision 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
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

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:

40
Skin, Lung, Testes, Myeloid, T Cells, B Cells

Publications for Mental Retardation, X-Linked 102

Articles related to Mental Retardation, X-Linked 102:

# Title Authors PMID Year
1
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 56 6
26235985 2015
2
Large-scale discovery of novel genetic causes of developmental disorders. 56
25533962 2015
3
Fragile X and X-linked intellectual disability: four decades of discovery. 6
22482801 2012
4
Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. 6
21956720 2011
5
Familial deletion within NLGN4 associated with autism and Tourette syndrome. 6
18231125 2008
6
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. 6
14963808 2004
7
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability. 61
30734472 2019
8
The triptolide derivative MRx102 inhibits Wnt pathway activation and has potent anti-tumor effects in lung cancer. 61
27400883 2016
9
Preclinical antileukemic activity, toxicology, toxicokinetics and formulation development of triptolide derivative MRx102. 61
24619497 2014
10
MRx102, a triptolide derivative, has potent antileukemic activity in vitro and in a murine model of AML. 61
21904380 2012

Variations for Mental Retardation, X-Linked 102

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

6 (show all 38) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DDX3X NM_001356.4(DDX3X):c.1520T>C (p.Ile507Thr)SNV Pathogenic 208546 rs797045024 X:41205780-41205780 X:41346527-41346527
2 DDX3X NM_001356.4(DDX3X):c.977G>A (p.Arg326His)SNV Pathogenic 208547 rs797045025 X:41203604-41203604 X:41344351-41344351
3 DDX3X NM_001356.4(DDX3X):c.873C>A (p.Tyr291Ter)SNV Pathogenic 208548 rs869320681 X:41203500-41203500 X:41344247-41344247
4 DDX3X NM_001356.4(DDX3X):c.1084C>T (p.Arg362Cys)SNV Pathogenic 208549 rs797045026 X:41204491-41204491 X:41345238-41345238
5 DDX3X NM_001356.4(DDX3X):c.745G>T (p.Glu249Ter)SNV Pathogenic 224100 rs752738546 X:41203055-41203055 X:41343802-41343802
6 DDX3X NM_001356.4(DDX3X):c.619C>T (p.Gln207Ter)SNV Pathogenic 224129 rs869312692 X:41202544-41202544 X:41343291-41343291
7 DDX3X NM_001363819.1(DDX3X):c.-367dupduplication Pathogenic 375368 rs1057519431 X:41200774-41200775 X:41341521-41341522
8 DDX3X NM_001356.4(DDX3X):c.362G>T (p.Arg121Leu)SNV Pathogenic 375386 rs1057519446 X:41201825-41201825 X:41342572-41342572
9 DDX3X NM_001356.4(DDX3X):c.1703C>T (p.Pro568Leu)SNV Pathogenic 375367 rs1057519430 X:41206199-41206199 X:41346946-41346946
10 DDX3X NM_001363819.1(DDX3X):c.-304deldeletion Pathogenic 429287 rs1131691299 X:41200840-41200840 X:41341587-41341587
11 DDX3X NM_001356.4(DDX3X):c.770dup (p.Asn257fs)duplication Pathogenic 438286 rs1555953398 X:41203283-41203284 X:41344030-41344031
12 DDX3X NM_001356.4(DDX3X):c.1099dup (p.Gln367fs)duplication Pathogenic 438285 rs1555953819 X:41204505-41204506 X:41345252-41345253
13 DDX3X NM_001356.4(DDX3X):c.1126C>T (p.Arg376Cys)SNV Pathogenic 207813 rs796052231 X:41204533-41204533 X:41345280-41345280
14 DDX3X NM_001193416.3(DDX3X):c.1804C>T (p.Arg602Ter)SNV Pathogenic 280514 rs886041705 X:41206602-41206602 X:41347349-41347349
15 DDX3X NM_001356.4(DDX3X):c.1429C>G (p.Gln477Glu)SNV Pathogenic 559627 rs1555954105 X:41205595-41205595 X:41346342-41346342
16 DDX3X NM_001193416.3(DDX3X):c.136C>T (p.Arg46Ter)SNV Pathogenic 620156 rs1569234653 X:41198321-41198321 X:41339068-41339068
17 DDX3X NM_001356.4(DDX3X):c.1439G>C (p.Arg480Thr)SNV Pathogenic 632603 rs1569240005 X:41205605-41205605 X:41346352-41346352
18 DDX3X NM_001193416.3(DDX3X):c.1171-1G>CSNV Pathogenic 638013 X:41204656-41204656 X:41345403-41345403
19 DDX3X NM_001356.4(DDX3X):c.1600C>G (p.Arg534Gly)SNV Pathogenic 694687 X:41205860-41205860 X:41346607-41346607
20 DDX3X NM_001363819.1(DDX3X):c.-1809_-1806CAGC[3]short repeat Pathogenic 803980 X:41196709-41196710 X:41337456-41337457
21 DDX3X NM_001363819.1(DDX3X):c.-386C>GSNV Pathogenic 803981 X:41200758-41200758 X:41341505-41341505
22 DDX3X NM_001363819.1(DDX3X):c.-290dupduplication Pathogenic 803982 X:41200853-41200854 X:41341600-41341601
23 DDX3X NM_001193416.3(DDX3X):c.1148C>G (p.Ala383Gly)SNV Pathogenic 807402 X:41204555-41204555 X:41345302-41345302
24 DDX3X NM_001193416.3(DDX3X):c.1316-2A>GSNV Pathogenic 807403 X:41205480-41205480 X:41346227-41346227
25 DDX3X NM_001193416.3(DDX3X):c.1463G>A (p.Arg488His)SNV Pathogenic/Likely pathogenic 207817 rs796052235 X:41205629-41205629 X:41346376-41346376
26 DDX3X NM_001356.4(DDX3X):c.577G>T (p.Gly193Ter)SNV Pathogenic/Likely pathogenic 225894 rs875989803 X:41202502-41202502 X:41343249-41343249
27 DDX3X NM_001193417.3(DDX3X):c.856G>A (p.Gly286Ser)SNV Likely pathogenic 225893 rs875989802 X:41203531-41203531 X:41344278-41344278
28 DDX3X NM_001193416.3(DDX3X):c.1600C>T (p.Arg534Cys)SNV Likely pathogenic 522795 rs1555954284 X:41205860-41205860 X:41346607-41346607
29 DDX3X NM_001356.4(DDX3X):c.113A>G (p.Tyr38Cys)SNV Likely pathogenic 545446 rs1555951993 X:41198298-41198298 X:41339045-41339045
30 DDX3X NM_001356.4(DDX3X):c.1486G>A (p.Val496Met)SNV Likely pathogenic 548024 rs1555954154 X:41205652-41205652 X:41346399-41346399
31 DDX3X NM_001356.4(DDX3X):c.820C>T (p.Pro274Ser)SNV Likely pathogenic 559641 rs1267519974 X:41203337-41203337 X:41344084-41344084
32 DDX3X NM_001356.4(DDX3X):c.1052G>A (p.Arg351Gln)SNV Likely pathogenic 374335 rs1057518707 X:41204459-41204459 X:41345206-41345206
33 DDX3X NM_001356.4(DDX3X):c.826_827AG[2] (p.Glu277fs)short repeat Likely pathogenic 666342 X:41203342-41203343 X:41344089-41344090
34 DDX3X NM_001356.4(DDX3X):c.833dup (p.Leu278fs)duplication Likely pathogenic 666340 X:41203348-41203349 X:41344095-41344096
35 DDX3X NM_001193416.3(DDX3X):c.887G>C (p.Arg296Pro)SNV Likely pathogenic 666341 X:41203514-41203514 X:41344261-41344261
36 DDX3X NM_001356.4(DDX3X):c.1563dup (p.Ile522fs)duplication Likely pathogenic 666561 X:41205822-41205823 X:41346569-41346570
37 DDX3X NM_001356.4(DDX3X):c.1180_1185dup (p.Arg394_Asp395dup)duplication Likely pathogenic 689754 X:41204664-41204665 X:41345411-41345412
38 DDX3X NM_001356.4(DDX3X):c.58G>T (p.Asp20Tyr)SNV Uncertain significance 634575 rs1569233520 X:41196673-41196673 X:41337420-41337420

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

73 (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 rs105751870
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 rs106479457
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 rs105751943

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

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
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