MRXSB
MCID: MNT269
MIFTS: 22

Mental Retardation, X-Linked, Syndromic, Bain Type (MRXSB)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

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

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

Name: Mental Retardation, X-Linked, Syndromic, Bain Type 57 75 29 6
Mrxsb 57 75

Characteristics:

OMIM:

57
Miscellaneous:
variable features
six unrelated females have been reported (last curated october 2016)

Inheritance:
x-linked dominant


HPO:

32
mental retardation, x-linked, syndromic, bain type:
Inheritance x-linked dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked, syndromic, Bain type: 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. MRXSB patients manifest developmental delay, intellectual disability, autism, hypotonia, seizures, and dysmorphic facial features. Only females are affected.

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Bain Type, is also known as mrxsb. An important gene associated with Mental Retardation, X-Linked, Syndromic, Bain Type is HNRNPH2 (Heterogeneous Nuclear Ribonucleoprotein H2). Affiliated tissues include eye and cerebellum, and related phenotypes are hypertelorism and high palate

OMIM : 57 MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016). (300986)

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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
hypotelorism
epicanthal folds
short palpebral fissures
almond-shaped eyes

Growth Other:
failure to thrive

Skeletal Spine:
scoliosis
lordosis

Skeletal Feet:
pes planus

Muscle Soft Tissue:
hypertonia
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
anxiety
obsessive-compulsive disorder
aggression
autism spectrum disorder
attention deficit-hyperactivity

Head And Neck Mouth:
wide mouth
high-arched palate
full lips

Head And Neck Head:
microcephaly, acquired (in some patients)

Neurologic Central Nervous System:
intellectual disability
seizures
ataxia
developmental regression
hypertonia
more
Abdomen Gastrointestinal:
constipation
feeding difficulties
gastroesophageal reflux disease

Chest External Features:
pectus carinatum

Growth Height:
short stature

Head And Neck Face:
micrognathia
short philtrum

Skeletal:
joint laxity

Head And Neck Nose:
hypoplastic nasal alae
long columella

Skeletal Hands:
elongated fingers


Clinical features from OMIM:

300986

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

32 (show all 34)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 high palate 32 HP:0000218
3 intellectual disability 32 HP:0001249
4 seizures 32 HP:0001250
5 ataxia 32 HP:0001251
6 gait disturbance 32 HP:0001288
7 failure to thrive 32 HP:0001508
8 constipation 32 HP:0002019
9 developmental regression 32 HP:0002376
10 scoliosis 32 HP:0002650
11 hyperlordosis 32 HP:0003307
12 global developmental delay 32 HP:0001263
13 pes planus 32 HP:0001763
14 thick vermilion border 32 HP:0012471
15 short stature 32 HP:0004322
16 hypertonia 32 HP:0001276
17 gastroesophageal reflux 32 HP:0002020
18 micrognathia 32 HP:0000347
19 feeding difficulties 32 HP:0011968
20 epicanthus 32 HP:0000286
21 absent speech 32 HP:0001344
22 anxiety 32 HP:0000739
23 joint laxity 32 HP:0001388
24 underdeveloped nasal alae 32 HP:0000430
25 wide mouth 32 HP:0000154
26 short philtrum 32 HP:0000322
27 aggressive behavior 32 HP:0000718
28 obsessive-compulsive behavior 32 HP:0000722
29 hypotelorism 32 HP:0000601
30 generalized hypotonia 32 HP:0001290
31 autistic behavior 32 HP:0000729
32 short palpebral fissure 32 HP:0012745
33 postnatal microcephaly 32 occasional (7.5%) HP:0005484
34 abnormal cerebellum morphology 32 occasional (7.5%) HP:0001317

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

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

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

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

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked, Syndromic, Bain Type 29 HNRNPH2

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

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

41
Eye, Cerebellum

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

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

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

75
# Symbol AA change Variation ID SNP ID
1 HNRNPH2 p.Arg206Gln VAR_077233 rs886039764
2 HNRNPH2 p.Arg206Trp VAR_077234 rs886039763
3 HNRNPH2 p.Pro209Leu VAR_077235

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, Bain Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HNRNPH2 NM_019597.4(HNRNPH2): c.626C> T (p.Pro209Leu) single nucleotide variant Pathogenic GRCh37 Chromosome X, 100667602: 100667602
2 HNRNPH2 NM_019597.4(HNRNPH2): c.626C> T (p.Pro209Leu) single nucleotide variant Pathogenic GRCh38 Chromosome X, 101412614: 101412614
3 HNRNPH2 NM_001032393.2(HNRNPH2): c.616C> T (p.Arg206Trp) single nucleotide variant Pathogenic/Likely pathogenic rs886039763 GRCh38 Chromosome X, 101412604: 101412604
4 HNRNPH2 NM_001032393.2(HNRNPH2): c.616C> T (p.Arg206Trp) single nucleotide variant Pathogenic/Likely pathogenic rs886039763 GRCh37 Chromosome X, 100667592: 100667592
5 HNRNPH2 NM_019597.4(HNRNPH2): c.617G> A (p.Arg206Gln) single nucleotide variant Pathogenic rs886039764 GRCh38 Chromosome X, 101412605: 101412605
6 HNRNPH2 NM_019597.4(HNRNPH2): c.617G> A (p.Arg206Gln) single nucleotide variant Pathogenic rs886039764 GRCh37 Chromosome X, 100667593: 100667593

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

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

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....