MCID: MNT296
MIFTS: 26

Mental Retardation, X-Linked, Syndromic 34

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases, Eye diseases, Cardiovascular diseases, Bone 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 40
Mrxs34 57 12 75
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome 12 59
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
Syndromic X-Linked Intellectual Disability 34 12
Mental Retardation, X-Linked, Syndromic, 34 75

Characteristics:

OMIM:

57
Inheritance:
x-linked

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


HPO:

32
mental retardation, x-linked, syndromic 34:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked, Syndromic 34

UniProtKB/Swiss-Prot : 75 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 brain, and related phenotypes are malar flattening and frontal bossing

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)

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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
frontal bossing
long face
malar hypoplasia

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Eyes:
strabismus
myopia
upslanting palpebral fissures

Growth Other:
slender build

Voice:
nasal speech

Skeletal Skull:
thickened calvarium
macrocephaly, relative or absolute

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

Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
cerebellar hypoplasia (in some patients)
seizures (in 1 patient)
poor language
more
Skeletal Feet:
pes planus
hallux valgus

Cardiovascular Heart:
patent ductus arteriosus
atrial septal defect
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)

GenitourinaryInternal GenitaliaMale:
cryptorchidism (in some patients)

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

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

32 (show all 42)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 frontal bossing 32 HP:0002007
3 intellectual disability 32 HP:0001249
4 seizures 32 HP:0001250
5 ataxia 32 HP:0001251
6 tremor 32 HP:0001337
7 scoliosis 32 HP:0002650
8 kyphosis 32 HP:0002808
9 widely spaced teeth 32 occasional (7.5%) HP:0000687
10 pes planus 32 HP:0001763
11 thickened calvaria 32 HP:0002684
12 neonatal hypotonia 32 HP:0001319
13 gastroesophageal reflux 32 occasional (7.5%) HP:0002020
14 delayed puberty 32 occasional (7.5%) HP:0000823
15 strabismus 32 HP:0000486
16 patent ductus arteriosus 32 HP:0001643
17 cryptorchidism 32 occasional (7.5%) HP:0000028
18 high, narrow palate 32 HP:0002705
19 myopia 32 HP:0000545
20 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
21 wide mouth 32 occasional (7.5%) HP:0000154
22 slender build 32 HP:0001533
23 dental crowding 32 HP:0000678
24 narrow mouth 32 HP:0000160
25 open mouth 32 HP:0000194
26 upslanted palpebral fissure 32 HP:0000582
27 joint laxity 32 HP:0001388
28 long face 32 HP:0000276
29 nasal speech 32 HP:0001611
30 ventricular septal defect 32 HP:0001629
31 aggressive behavior 32 HP:0000718
32 hallux valgus 32 HP:0001822
33 motor delay 32 HP:0001270
34 mild global developmental delay 32 HP:0011342
35 prominent nose 32 HP:0000448
36 generalized hypotonia 32 HP:0001290
37 patent foramen ovale 32 HP:0001655
38 deviated nasal septum 32 occasional (7.5%) HP:0004411
39 right ventricular hypertrophy 32 HP:0001667
40 perseveration 32 HP:0030223
41 left ventricular noncompaction 32 HP:0030682
42 increased head circumference 32 HP:0040194

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:

41
Brain

Publications for Mental Retardation, X-Linked, Syndromic 34

Variations for Mental Retardation, X-Linked, Syndromic 34

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NONO NM_001145408.1(NONO): c.1131G> A (p.Ala377=) single nucleotide variant Pathogenic rs869025343 GRCh38 Chromosome X, 71297938: 71297938
2 NONO NM_001145408.1(NONO): c.1131G> A (p.Ala377=) single nucleotide variant Pathogenic rs869025343 GRCh37 Chromosome X, 70517788: 70517788
3 NONO NM_001145408.1(NONO): c.1394dupC (p.Asn466Lysfs) duplication Pathogenic rs869025344 GRCh37 Chromosome X, 70519904: 70519904
4 NONO NM_001145408.1(NONO): c.1394dupC (p.Asn466Lysfs) duplication Pathogenic rs869025344 GRCh38 Chromosome X, 71300054: 71300054
5 NONO NM_001145408.1(NONO): c.1093C> T (p.Arg365Ter) single nucleotide variant Pathogenic rs869025345 GRCh37 Chromosome X, 70517750: 70517750
6 NONO NM_001145408.1(NONO): c.1093C> T (p.Arg365Ter) single nucleotide variant Pathogenic rs869025345 GRCh38 Chromosome X, 71297900: 71297900
7 NONO NM_001145408.1(NONO): c.1171+1G> T single nucleotide variant Pathogenic rs876661316 GRCh37 Chromosome X, 70518359: 70518359
8 NONO NM_001145408.1(NONO): c.1171+1G> T single nucleotide variant Pathogenic rs876661316 GRCh38 Chromosome X, 71298509: 71298509
9 NONO NM_001145408.1(NONO): c.1171G> T (p.Gly391Cys) single nucleotide variant Pathogenic rs1114167441 GRCh37 Chromosome X, 70518358: 70518358
10 NONO NM_001145408.1(NONO): c.1171G> T (p.Gly391Cys) single nucleotide variant Pathogenic rs1114167441 GRCh38 Chromosome X, 71298508: 71298508

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 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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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
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