MCID: MNT296
MIFTS: 22

Mental Retardation, X-Linked, Syndromic 34

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases, Eye diseases, Cardiovascular 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 54 12 29
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome 12 56
Mrxs34 12 71
Syndromic X-Linked Mental Retardation Mircsof-Langouet Type 12
Syndromic X-Linked Intellectual Disability 34 12
Mental Retardation, X-Linked, Syndromic, 34 71
Mrxsml 12

Characteristics:

OMIM:

54
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 : 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 macrocephaly-intellectual disability-left ventricular non compaction syndrome, and has symptoms including ataxia, tremor and joint laxity. An important gene associated with Mental Retardation, X-Linked, Syndromic 34 is NONO (Non-POU Domain Containing Octamer Binding). Affiliated tissues include brain.

OMIM : 54
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)

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.

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

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

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Spine:
scoliosis
kyphosis

Head And Neck- Eyes:
strabismus
myopia
upslanting palpebral fissures

Head And Neck- Mouth:
small mouth
open mouth
high narrow palate
wide mouth (in some patients)

Muscle Soft Tissue:
hypotonia, neonatal

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

Endocrine Features:
delayed puberty (in some patients)

Head And Neck- Head:
macrocephaly, relative or absolute

Voice:
nasal speech

Abdomen- Gastroin testinal:
gastroesophageal reflux (in some patients)
poor sucking in infancy

Skeletal- Hands:
ankylosis of the metacarpophalangeal joint of p1

Neurologic- Central Nervous System:
delayed psychomotor development
intellectual disability
cerebellar hypoplasia (in some patients)
thickened corpus callosum
seizures (in 1 patient)
more
Head And Neck- Face:
long face
frontal bossing
malar hypoplasia

Cardiovascular- Heart:
atrial septal defect
patent ductus arteriosus
ventricular septal defect
patent foramen ovale
left ventricular noncompaction
more
Head And Neck- Teeth:
crowded teeth
widely spaced teeth (in some patients)

Skeletal- Feet:
hallux valgus
pes planus

Growth- Other:
slender build

Skeletal- Skull:
macrocephaly, relative or absolute
thickened calvarium

Genitourinary- Internal Genitalia Male:
cryptorchidism (in some patients)

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


Clinical features from OMIM:

300967

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

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 tremor 32 HP:0001337
3 joint laxity 32 HP:0001388
4 intellectual disability 32 HP:0001249
5 ventricular septal defect 32 HP:0001629
6 aggressive behavior 32 HP:0000718
7 motor delay 32 HP:0001270
8 generalized hypotonia 32 HP:0001290
9 left ventricular noncompaction 32 HP:0030682
10 increased head circumference 32 HP:0040194
11 perseveration 32 HP:0030223
12 mild global developmental delay 32 HP:0011342

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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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:

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

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

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

39
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
id 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
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
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52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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