MRXS34
MCID: MNT296
MIFTS: 29

Mental Retardation, X-Linked, Syndromic 34 (MRXS34)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic 34

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic 34:

Name: Mental Retardation, X-Linked, Syndromic 34 57 12 29 6 39
Mrxs34 57 12 72
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome 12 58
Syndromic X-Linked Intellectual Disability 34 12 15
Mrxsml 57 12
Mental Retardation, X-Linked, Syndromic, Mircsof-Langouet Type; Mrxsml 57
Mental Retardation, X-Linked, Syndromic, Mircsof-Langouet Type 57
Syndromic X-Linked Mental Retardation Mircsof-Langouet Type 12
Mental Retardation, X-Linked, Syndromic, 34 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked

Miscellaneous:
three unrelated males have been reported (last curated february 2016)


HPO:

31
mental retardation, x-linked, syndromic 34:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Mental Retardation, X-Linked, Syndromic 34

UniProtKB/Swiss-Prot : 72 Mental retardation, X-linked, syndromic, 34: A mental retardation syndrome characterized by intellectual deficit, delayed psychomotor development, poor speech, and dysmorphic features. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, X-Linked, Syndromic 34, is also known as mrxs34. An important gene associated with Mental Retardation, X-Linked, Syndromic 34 is NONO (Non-POU Domain Containing Octamer Binding). Affiliated tissues include pituitary and heart, and related phenotypes are relative macrocephaly and delayed speech and language development

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has material basis in mutation in the NONO gene on chromosome Xq13.

OMIM® : 57 X-linked syndromic mental retardation-34 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with poor speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum (summary by Mircsof et al., 2015). (300967) (Updated 05-Apr-2021)

Related Diseases for Mental Retardation, X-Linked, Syndromic 34

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic 34

Human phenotypes related to Mental Retardation, X-Linked, Syndromic 34:

58 31 (show top 50) (show all 92)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 relative macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0004482
2 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
3 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
4 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
5 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
6 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
7 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
8 kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002751
9 slender build 58 31 frequent (33%) Frequent (79-30%) HP:0001533
10 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
11 open mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000194
12 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
13 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
14 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
15 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
16 nasal speech 58 31 frequent (33%) Frequent (79-30%) HP:0001611
17 narrow nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000446
18 poor head control 58 31 frequent (33%) Frequent (79-30%) HP:0002421
19 prominent nose 58 31 frequent (33%) Frequent (79-30%) HP:0000448
20 poor suck 58 31 frequent (33%) Frequent (79-30%) HP:0002033
21 delayed gross motor development 58 31 frequent (33%) Frequent (79-30%) HP:0002194
22 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
23 shyness 58 31 frequent (33%) Frequent (79-30%) HP:0100962
24 dysplastic corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0006989
25 synostosis involving the 1st metacarpal 58 31 frequent (33%) Frequent (79-30%) HP:0009703
26 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
27 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
28 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
29 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
30 widely spaced teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000687
31 thickened calvaria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002684
32 thick vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0012471
33 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
34 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
35 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
36 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
37 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
38 joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001388
39 left ventricular hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001712
40 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
41 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
42 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
43 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
44 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
45 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322
46 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
47 hallux valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001822
48 triangular face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000325
49 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
50 plagiocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001357

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
cerebellar hypoplasia (in some patients)
seizures (in 1 patient)
poor language
more
Skeletal Spine:
scoliosis
kyphosis

Head And Neck Eyes:
strabismus
myopia
upslanting palpebral fissures

Growth Other:
slender build

Voice:
nasal speech

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

Head And Neck Teeth:
crowded teeth
widely spaced teeth (in some patients)

Endocrine Features:
delayed puberty (in some patients)

Head And Neck Head:
macrocephaly, relative or absolute

Skeletal Hands:
ankylosis of the metacarpophalangeal joint of p1

Head And Neck Face:
frontal bossing
long face
malar hypoplasia

Skeletal Feet:
pes planus
hallux valgus

Cardiovascular Heart:
atrial septal defect
patent ductus arteriosus
ventricular septal defect
patent foramen ovale
right ventricular hypertrophy
more
Head And Neck Mouth:
open mouth
small mouth
wide mouth (in some patients)
high narrow palate

Head And Neck Nose:
prominent nose
thin nasal root
high nasal root
deviated nasal septum (in some patients)

Skeletal Skull:
thickened calvarium
macrocephaly, relative or absolute

Muscle Soft Tissue:
hypotonia, neonatal

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior (in some patients)
shy, gentle, cheerful demeanor (in some patients)
anxious demeanor (in some patients)

Abdomen Gastrointestinal:
poor sucking in infancy
gastroesophageal reflux (in some patients)

Clinical features from OMIM®:

300967 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic 34

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic 34

Genetic Tests for Mental Retardation, X-Linked, Syndromic 34

Genetic tests related to Mental Retardation, X-Linked, Syndromic 34:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked, Syndromic 34 29 NONO

Anatomical Context for Mental Retardation, X-Linked, Syndromic 34

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic 34:

40
Pituitary, Heart

Publications for Mental Retardation, X-Linked, Syndromic 34

Articles related to Mental Retardation, X-Linked, Syndromic 34:

# Title Authors PMID Year
1
Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. 6 57
27550220 2017
2
Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing. 57 6
27329731 2016
3
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects. 57 6
26571461 2015
4
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 6
32238909 2020
5
Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO. 61
31883306 2020
6
Case Report: Characterization of a Novel NONO Intronic Mutation in a Fetus With X-Linked Syndromic Mental Retardation-34. 61
33304389 2020

Variations for Mental Retardation, X-Linked, Syndromic 34

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic 34:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NONO NM_007363.5(NONO):c.1093C>T (p.Arg365Ter) SNV Pathogenic 222083 rs869025345 GRCh37: X:70517750-70517750
GRCh38: X:71297900-71297900
2 NONO NM_007363.5(NONO):c.1171+1G>T SNV Pathogenic 235099 rs876661316 GRCh37: X:70518359-70518359
GRCh38: X:71298509-71298509
3 NONO NM_007363.5(NONO):c.1171G>T (p.Gly391Cys) SNV Pathogenic 427778 rs1114167441 GRCh37: X:70518358-70518358
GRCh38: X:71298508-71298508
4 NONO NM_007363.5(NONO):c.550C>T (p.Arg184Ter) SNV Pathogenic 691621 rs1602387702 GRCh37: X:70514278-70514278
GRCh38: X:71294428-71294428
5 NONO NM_007363.5(NONO):c.107del (p.Pro36fs) Deletion Pathogenic 807452 rs1602385860 GRCh37: X:70510593-70510593
GRCh38: X:71290743-71290743
6 NONO NM_007363.5(NONO):c.1394dup (p.Asn466fs) Duplication Pathogenic 222082 rs869025344 GRCh37: X:70519900-70519901
GRCh38: X:71300050-71300051
7 NONO NM_007363.5(NONO):c.1131G>A (p.Ala377=) SNV Pathogenic 222081 rs869025343 GRCh37: X:70517788-70517788
GRCh38: X:71297938-71297938
8 NONO NM_007363.5(NONO):c.457C>T (p.Arg153Ter) SNV Pathogenic 833999 GRCh37: X:70514185-70514185
GRCh38: X:71294335-71294335
9 NONO NM_007363.5(NONO):c.651-1G>C SNV Likely pathogenic 873448 GRCh37: X:70516414-70516414
GRCh38: X:71296564-71296564
10 NONO NM_007363.5(NONO):c.1191_1192del (p.Asn397fs) Deletion Likely pathogenic 812179 GRCh37: X:70518575-70518576
GRCh38: X:71298725-71298726

Expression for Mental Retardation, X-Linked, Syndromic 34

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic 34.

Pathways for Mental Retardation, X-Linked, Syndromic 34

GO Terms for Mental Retardation, X-Linked, Syndromic 34

Sources for Mental Retardation, X-Linked, Syndromic 34

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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