MRXSB
MCID: MNT269
MIFTS: 30

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 72 29 6
Mrxsb 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
variable features
six unrelated females have been reported (last curated october 2016)

Inheritance:
x-linked dominant


HPO:

31
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 : 72 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, also known as mrxsb, is related to atrial septal defect 1 and myotonic disease. An important gene associated with Mental Retardation, X-Linked, Syndromic, Bain Type is HNRNPH2 (Heterogeneous Nuclear Ribonucleoprotein H2). Affiliated tissues include cerebellum, and related phenotypes are abnormal cerebellum morphology and postnatal microcephaly

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) (Updated 05-Apr-2021)

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

Graphical network of the top 20 diseases related to Mental Retardation, X-Linked, Syndromic, Bain Type:



Diseases related to Mental Retardation, X-Linked, Syndromic, Bain Type

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

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

31 (show all 35)
# Description HPO Frequency HPO Source Accession
1 abnormal cerebellum morphology 31 occasional (7.5%) HP:0001317
2 postnatal microcephaly 31 occasional (7.5%) HP:0005484
3 intellectual disability 31 HP:0001249
4 failure to thrive 31 HP:0001508
5 scoliosis 31 HP:0002650
6 ataxia 31 HP:0001251
7 gait disturbance 31 HP:0001288
8 constipation 31 HP:0002019
9 high palate 31 HP:0000218
10 developmental regression 31 HP:0002376
11 hyperlordosis 31 HP:0003307
12 global developmental delay 31 HP:0001263
13 hypertelorism 31 HP:0000316
14 pectus carinatum 31 HP:0000768
15 pes planus 31 HP:0001763
16 thick vermilion border 31 HP:0012471
17 short stature 31 HP:0004322
18 hypertonia 31 HP:0001276
19 gastroesophageal reflux 31 HP:0002020
20 absent speech 31 HP:0001344
21 micrognathia 31 HP:0000347
22 anxiety 31 HP:0000739
23 epicanthus 31 HP:0000286
24 joint laxity 31 HP:0001388
25 wide mouth 31 HP:0000154
26 obsessive-compulsive behavior 31 HP:0000722
27 short philtrum 31 HP:0000322
28 hypotelorism 31 HP:0000601
29 underdeveloped nasal alae 31 HP:0000430
30 feeding difficulties 31 HP:0011968
31 autistic behavior 31 HP:0000729
32 aggressive behavior 31 HP:0000718
33 generalized hypotonia 31 HP:0001290
34 short palpebral fissure 31 HP:0012745
35 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
seizures
ataxia
developmental regression
hypertonia
more
Skeletal Spine:
scoliosis
lordosis

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

Skeletal Feet:
pes planus

Muscle Soft Tissue:
hypertonia
hypotonia

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

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

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

Growth Other:
failure to thrive

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 (Updated 05-Apr-2021)

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:

40
Cerebellum

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

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

# Title Authors PMID Year
1
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. 6 57
27545675 2016
2
Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2. 6
31670473 2020
3
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome. 61
32335897 2020
4
Bain type of X-linked syndromic mental retardation in boys. 61
30887513 2019
5
Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation. 61
29938792 2018

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPL36A-HNRNPH2 , HNRNPH2 NM_019597.5(HNRNPH2):c.626C>T (p.Pro209Leu) SNV Pathogenic 225759 rs1555988417 GRCh37: X:100667602-100667602
GRCh38: X:101412614-101412614
2 RPL36A-HNRNPH2 , HNRNPH2 NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) SNV Pathogenic 225760 rs886039763 GRCh37: X:100667592-100667592
GRCh38: X:101412604-101412604
3 RPL36A-HNRNPH2 , HNRNPH2 NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) SNV Pathogenic/Likely pathogenic 225761 rs886039764 GRCh37: X:100667593-100667593
GRCh38: X:101412605-101412605
4 RPL36A-HNRNPH2 , HNRNPH2 NM_019597.5(HNRNPH2):c.629A>G (p.Tyr210Cys) SNV Likely pathogenic 521005 rs1555988422 GRCh37: X:100667605-100667605
GRCh38: X:101412617-101412617
5 HNRNPH1 NM_001257293.2(HNRNPH1):c.340C>T (p.Arg114Trp) SNV Likely pathogenic 828178 GRCh37: 5:179047950-179047950
GRCh38: 5:179620949-179620949
6 RPL36A-HNRNPH2 , HNRNPH2 NM_019597.5(HNRNPH2):c.635G>C (p.Arg212Thr) SNV Likely pathogenic 984808 GRCh37: X:100667611-100667611
GRCh38: X:101412623-101412623
7 RPL36A-HNRNPH2 , HNRNPH2 NM_019597.5(HNRNPH2):c.85C>T (p.Arg29Cys) SNV Likely pathogenic 807430 rs1555988314 GRCh37: X:100667061-100667061
GRCh38: X:101412073-101412073

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

72
# 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 rs155598841

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

Cellular components related to Mental Retardation, X-Linked, Syndromic, Bain Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribonucleoprotein complex GO:1990904 8.62 HNRNPH2 HNRNPH1

Biological processes related to Mental Retardation, X-Linked, Syndromic, Bain Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA splicing, via spliceosome GO:0000398 9.16 HNRNPH2 HNRNPH1
2 regulation of RNA splicing GO:0043484 8.96 HNRNPH2 HNRNPH1
3 RNA metabolic process GO:0016070 8.62 HNRNPH2 HNRNPH1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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