MRXSSB
MCID: INT370
MIFTS: 32

Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type (MRXSSB)

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

Aliases & Classifications for Intellectual Developmental Disorder, X-Linked, Syndromic,...

MalaCards integrated aliases for Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type:

Name: Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type 56
Mental Retardation, X-Linked 102 73 29 6
Intellectual Developmental Disorder, X-Linked, Syndrome, Snijders Blok Type 56
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome 58
Mental Retardation, X-Linked 102, Formerly; Mrx102, Formerly 56
Mental Retardation, X-Linked 102, Formerly 56
Mental Retardation, X-Linked, Type 102 39
Mrx102, Formerly 56
Mrxssb 56
Mrx102 73

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

Inheritance:
x-linked recessive
x-linked dominant


HPO:

31
intellectual developmental disorder, x-linked, syndromic, snijders blok type:
Onset and clinical course infantile onset
Inheritance x-linked dominant inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Intellectual Developmental Disorder, X-Linked, Syndromic,...

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 : Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type, also known as mental retardation, x-linked 102, is related to leukemia, acute myeloid and severe combined immunodeficiency. An important gene associated with Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type is DDX3X (DEAD-Box Helicase 3 X-Linked). Affiliated tissues include skin, brain and eye, and related phenotypes are intellectual disability and dyskinesia

OMIM : 56 Syndromic X-linked mental retardation of the Snijders Blok type (MRXSSB), which occurs predominantly in females, is characterized by mildly to severely impaired intellectual development with variable other features including brain abnormalities, microcephaly, hypotonia, movement disorder and/or spasticity, ventricular enlargement, hypoplasia, and behavioral problems (Snijders Blok et al., 2015; Nicola et al., 2019). (300958)

Related Diseases for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Diseases related to Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leukemia, acute myeloid 10.2
2 severe combined immunodeficiency 10.2

Symptoms & Phenotypes for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Human phenotypes related to Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Obligate (100%) HP:0001249
2 dyskinesia 58 31 occasional (7.5%) Frequent (79-30%) HP:0100660
3 microcephaly 58 31 occasional (7.5%) Frequent (79-30%) HP:0000252
4 spasticity 58 31 occasional (7.5%) Frequent (79-30%) HP:0001257
5 broad-based gait 58 31 occasional (7.5%) Frequent (79-30%) HP:0002136
6 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
7 aggressive behavior 58 31 occasional (7.5%) Frequent (79-30%) HP:0000718
8 hyperactivity 58 31 occasional (7.5%) Frequent (79-30%) HP:0000752
9 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
10 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
11 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
12 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
13 abnormal facial shape 58 31 occasional (7.5%) Occasional (29-5%) HP:0001999
14 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
15 abnormality of skin pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001000
16 joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001388
17 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
18 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
19 oral cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0000202
20 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
21 cortical dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002539
22 cleft palate 31 occasional (7.5%) HP:0000175
23 cleft upper lip 31 occasional (7.5%) HP:0000204
24 decreased body weight 31 occasional (7.5%) HP:0004325
25 seizure 31 occasional (7.5%) HP:0001250
26 seizures 58 Occasional (29-5%)
27 abnormality of vision 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
strabismus
cataracts
deep-set eyes
upslanting palpebral fissures
more
Head And Neck Head:
macrocephaly
microcephaly
brachycephaly
plagiocephaly

Neurologic Central Nervous System:
seizures
dyskinesia
spasticity
dystonia
developmental delay
more
Growth Other:
failure to thrive
intrauterine growth retardation

Head And Neck Ears:
recurrent otitis media
hearing loss

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior
hyperactivity
autism spectrum disorder
aggression

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Skeletal:
joint hyperlaxity

Abdomen Gastrointestinal:
feeding problems
gastroesophageal reflux (ger)

Prenatal Manifestations:
nuchal thickening

Skeletal Spine:
scoliosis

Head And Neck Nose:
wide nasal bridge
bulbous nasal tip
narrow alae nasi
anteverted nares low columella

Head And Neck Face:
smooth philtrum
frontal bossing
long face
long philtrum
hypotonic face
more
Head And Neck Mouth:
cleft palate
cleft lip
thin upper lip
high-arched palate

Cardiovascular Heart:
atrial septal defect
patent ductus arteriosus
ventricular septal defect

Endocrine Features:
precocious puberty

Muscle Soft Tissue:
hypotonia

Growth Weight:
low weight

Skin Nails Hair Skin:
pigmentation abnormalities

Prenatal Manifestations Maternal:
pregnancy induced hypertension

Clinical features from OMIM:

300958

Drugs & Therapeutics for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type

Genetic Tests for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Genetic tests related to Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type:

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

Anatomical Context for Intellectual Developmental Disorder, X-Linked, Syndromic,...

MalaCards organs/tissues related to Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type:

40
Skin, Brain, Eye, Lung

Publications for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Articles related to Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type:

# Title Authors PMID Year
1
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability. 61 6 56
30734472 2019
2
Expansion of phenotype of DDX3X syndrome: six new cases. 6 56
31274575 2019
3
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. 56 6
30936465 2019
4
Further delineation of DDX3X syndrome. 6 56
30817323 2019
5
A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features. 6 56
29490693 2018
6
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 6 56
26235985 2015
7
Large-scale discovery of novel genetic causes of developmental disorders. 56
25533962 2015
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 Intellectual Developmental Disorder, X-Linked, Syndromic,...

ClinVar genetic disease variations for Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type:

6 (show all 46) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DDX3X NM_001363819.1(DDX3X):c.-304deldeletion Pathogenic 429287 rs1131691299 X:41200840-41200840 X:41341587-41341587
2 DDX3X NM_001356.4(DDX3X):c.770dup (p.Asn257fs)duplication Pathogenic 438286 rs1555953398 X:41203283-41203284 X:41344030-41344031
3 DDX3X NM_001356.4(DDX3X):c.1099dup (p.Gln367fs)duplication Pathogenic 438285 rs1555953819 X:41204505-41204506 X:41345252-41345253
4 DDX3X NM_001356.4(DDX3X):c.1429C>G (p.Gln477Glu)SNV Pathogenic 559627 rs1555954105 X:41205595-41205595 X:41346342-41346342
5 DDX3X NM_001193416.3(DDX3X):c.136C>T (p.Arg46Ter)SNV Pathogenic 620156 rs1569234653 X:41198321-41198321 X:41339068-41339068
6 DDX3X NM_001356.4(DDX3X):c.1439G>C (p.Arg480Thr)SNV Pathogenic 632603 rs1569240005 X:41205605-41205605 X:41346352-41346352
7 DDX3X NM_001193416.3(DDX3X):c.1171-1G>CSNV Pathogenic 638013 X:41204656-41204656 X:41345403-41345403
8 DDX3X NM_001356.4(DDX3X):c.1600C>G (p.Arg534Gly)SNV Pathogenic 694687 X:41205860-41205860 X:41346607-41346607
9 DDX3X NM_001356.5(DDX3X):c.95_98CAGC[3] (p.Lys35fs)short repeat Pathogenic 803980 X:41196709-41196710 X:41337456-41337457
10 DDX3X NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter)SNV Pathogenic 803981 X:41200758-41200758 X:41341505-41341505
11 DDX3X NM_001356.5(DDX3X):c.269dup (p.Ser90fs)duplication Pathogenic 803982 X:41200853-41200854 X:41341600-41341601
12 DDX3X NM_001356.5(DDX3X):c.1148C>G (p.Ala383Gly)SNV Pathogenic 807402 X:41204555-41204555 X:41345302-41345302
13 DDX3X NM_001356.5(DDX3X):c.1316-2A>GSNV Pathogenic 807403 X:41205480-41205480 X:41346227-41346227
14 DDX3X NM_001356.5(DDX3X):c.1127G>A (p.Arg376His)SNV Pathogenic 872857 X:41204534-41204534 X:41345281-41345281
15 DDX3X NM_001356.5(DDX3X):c.1511G>A (p.Gly504Glu)SNV Pathogenic 872859 X:41205771-41205771 X:41346518-41346518
16 DDX3X NM_001356.5(DDX3X):c.1436_1439delinsTCTC (p.Asp479_Arg480delinsValSer)indel Pathogenic 872860 X:41205602-41205605 X:41346349-41346352
17 DDX3X NM_001356.5(DDX3X):c.641_643del (p.Ile214del)deletion Pathogenic 872861 X:41202565-41202567 X:41343312-41343314
18 DDX3X NM_001356.5(DDX3X):c.589del (p.Thr198fs)deletion Pathogenic 872862 X:41202514-41202514 X:41343261-41343261
19 DDX3X NM_001356.4(DDX3X):c.1126C>T (p.Arg376Cys)SNV Pathogenic 207813 rs796052231 X:41204533-41204533 X:41345280-41345280
20 DDX3X NM_001356.5(DDX3X):c.1535_1536del (p.His512fs)deletion Pathogenic 207812 rs796052230 X:41205795-41205796 X:41346542-41346543
21 DDX3X NM_001356.4(DDX3X):c.1520T>C (p.Ile507Thr)SNV Pathogenic 208546 rs797045024 X:41205780-41205780 X:41346527-41346527
22 DDX3X NM_001356.4(DDX3X):c.977G>A (p.Arg326His)SNV Pathogenic 208547 rs797045025 X:41203604-41203604 X:41344351-41344351
23 DDX3X NM_001356.4(DDX3X):c.873C>A (p.Tyr291Ter)SNV Pathogenic 208548 rs869320681 X:41203500-41203500 X:41344247-41344247
24 DDX3X NM_001356.4(DDX3X):c.1084C>T (p.Arg362Cys)SNV Pathogenic 208549 rs797045026 X:41204491-41204491 X:41345238-41345238
25 DDX3X NM_001356.4(DDX3X):c.745G>T (p.Glu249Ter)SNV Pathogenic 224100 rs752738546 X:41203055-41203055 X:41343802-41343802
26 DDX3X NM_001356.4(DDX3X):c.619C>T (p.Gln207Ter)SNV Pathogenic 224129 rs869312692 X:41202544-41202544 X:41343291-41343291
27 DDX3X NM_001193416.3(DDX3X):c.1804C>T (p.Arg602Ter)SNV Pathogenic 280514 rs886041705 X:41206602-41206602 X:41347349-41347349
28 DDX3X NM_001363819.1(DDX3X):c.-367dupduplication Pathogenic 375368 rs1057519431 X:41200774-41200775 X:41341521-41341522
29 DDX3X NM_001356.4(DDX3X):c.362G>T (p.Arg121Leu)SNV Pathogenic 375386 rs1057519446 X:41201825-41201825 X:41342572-41342572
30 DDX3X NM_001356.4(DDX3X):c.1703C>T (p.Pro568Leu)SNV Pathogenic 375367 rs1057519430 X:41206199-41206199 X:41346946-41346946
31 DDX3X NM_001356.4(DDX3X):c.577G>T (p.Gly193Ter)SNV Pathogenic/Likely pathogenic 225894 rs875989803 X:41202502-41202502 X:41343249-41343249
32 DDX3X NM_001193416.3(DDX3X):c.1463G>A (p.Arg488His)SNV Pathogenic/Likely pathogenic 207817 rs796052235 X:41205629-41205629 X:41346376-41346376
33 DDX3X NM_001356.4(DDX3X):c.976C>T (p.Arg326Cys)SNV Pathogenic/Likely pathogenic 521573 rs1555953548 X:41203603-41203603 X:41344350-41344350
34 DDX3X NM_001193416.3(DDX3X):c.1600C>T (p.Arg534Cys)SNV Likely pathogenic 522795 rs1555954284 X:41205860-41205860 X:41346607-41346607
35 DDX3X NM_001356.4(DDX3X):c.113A>G (p.Tyr38Cys)SNV Likely pathogenic 545446 rs1555951993 X:41198298-41198298 X:41339045-41339045
36 DDX3X NM_001356.4(DDX3X):c.1486G>A (p.Val496Met)SNV Likely pathogenic 548024 rs1555954154 X:41205652-41205652 X:41346399-41346399
37 DDX3X NM_001356.4(DDX3X):c.820C>T (p.Pro274Ser)SNV Likely pathogenic 559641 rs1267519974 X:41203337-41203337 X:41344084-41344084
38 DDX3X NM_001356.4(DDX3X):c.826_827AG[2] (p.Glu277fs)short repeat Likely pathogenic 666342 X:41203342-41203343 X:41344089-41344090
39 DDX3X NM_001356.4(DDX3X):c.833dup (p.Leu278fs)duplication Likely pathogenic 666340 X:41203348-41203349 X:41344095-41344096
40 DDX3X NM_001193416.3(DDX3X):c.887G>C (p.Arg296Pro)SNV Likely pathogenic 666341 X:41203514-41203514 X:41344261-41344261
41 DDX3X NM_001356.4(DDX3X):c.1563dup (p.Ile522fs)duplication Likely pathogenic 666561 X:41205822-41205823 X:41346569-41346570
42 DDX3X NM_001356.4(DDX3X):c.1180_1185dup (p.Arg394_Asp395dup)duplication Likely pathogenic 689754 X:41204664-41204665 X:41345411-41345412
43 DDX3X NM_001193417.3(DDX3X):c.856G>A (p.Gly286Ser)SNV Likely pathogenic 225893 rs875989802 X:41203531-41203531 X:41344278-41344278
44 DDX3X NM_001356.4(DDX3X):c.1052G>A (p.Arg351Gln)SNV Likely pathogenic 374335 rs1057518707 X:41204459-41204459 X:41345206-41345206
45 DDX3X NM_001356.5(DDX3X):c.236G>A (p.Arg79Lys)SNV Uncertain significance 422246 rs1064795656 X:41200821-41200821 X:41341568-41341568
46 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 Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type:

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 Intellectual Developmental Disorder, X-Linked, Syndromic,...

Search GEO for disease gene expression data for Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type.

Pathways for Intellectual Developmental Disorder, X-Linked, Syndromic,...

GO Terms for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Sources for Intellectual Developmental Disorder, X-Linked, Syndromic,...

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
Content
Loading form....