MCID: MNT296
MIFTS: 25

Mental Retardation, X-Linked, Syndromic 34

Categories: Genetic diseases, Bone diseases, Cardiovascular diseases, Eye diseases, Rare diseases, Mental diseases, Neuronal diseases, Fetal 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 53 12 28
Mrxs34 53 12 71
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome 12 55
Mrxsml 53 12
Mental Retardation, X-Linked, Syndromic, Mircsof-Langouet Type; Mrxsml 53
Mental Retardation, X-Linked, Syndromic, Mircsof-Langouet Type 53
Syndromic X-Linked Mental Retardation Mircsof-Langouet Type 12
Syndromic X-Linked Intellectual Disability 34 12
Mental Retardation, X-Linked, Syndromic, 34 71

Characteristics:

OMIM:

53
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:



Summaries for Mental Retardation, X-Linked, Syndromic 34

UniProtKB/Swiss-Prot : 71 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, and has symptoms including ataxia, seizures and tremor. An important gene associated with Mental Retardation, X-Linked, Syndromic 34 is NONO (Non-POU Domain Containing Octamer Binding). Affiliated tissues include brain.

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 : 53 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:

53
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)

Genitourinary Internal Genitalia Male:
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 Gastroin testinal:
poor sucking in infancy
gastroesophageal reflux (in some patients)


Clinical features from OMIM:

300967

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

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

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

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

38
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.1394dupC (p.Asn466Lysfs) duplication Pathogenic rs869025344 GRCh37 Chromosome X, 70519904: 70519904
3 NONO NM_001145408.1(NONO): c.1093C> T (p.Arg365Ter) single nucleotide variant Pathogenic rs869025345 GRCh37 Chromosome X, 70517750: 70517750
4 NONO NM_001145408.1(NONO): c.1171+1G> T single nucleotide variant Pathogenic rs876661316 GRCh37 Chromosome X, 70518359: 70518359
5 NONO NM_001145408.1(NONO): c.1171G> T (p.Gly391Cys) single nucleotide variant Pathogenic rs1114167441 GRCh37 Chromosome X, 70518358: 70518358

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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