MCID: MNT305
MIFTS: 20

Mental Retardation, X-Linked 12

Categories: Genetic diseases, Neuronal diseases, Mental diseases, Rare diseases

Aliases & Classifications for Mental Retardation, X-Linked 12

MalaCards integrated aliases for Mental Retardation, X-Linked 12:

Name: Mental Retardation, X-Linked 12 57 75 29 6
Mental Retardation, X-Linked 35 57 75
Mrx12 57 75
Mrx35 57 75
Mental Retardation, X-Linked, Type 12/35 40
Mental Retardation, X-Linked 35; Mrx35 57
Mental Retardation, X-Linked 12/35 57
Mental Retardation, X-Linked 12/3 75

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
four unrelated families have been reported (last curated august 2015)


HPO:

32
mental retardation, x-linked 12:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked 12

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked 12: 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. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX12 patients manifest variable degrees of intellectual disability. Commonly observed features included speech delay, elevated BMI, short stature, seizure disorders, gait disturbance, and tremors.

MalaCards based summary : Mental Retardation, X-Linked 12, is also known as mental retardation, x-linked 35. An important gene associated with Mental Retardation, X-Linked 12 is THOC2 (THO Complex 2). Related phenotypes are microcephaly and intellectual disability

Description from OMIM: 300957

Symptoms & Phenotypes for Mental Retardation, X-Linked 12

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly (in some patients)

Growth Weight:
truncal obesity (in some patients)
increased body mass index (bmi) (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities (in some patients)

Growth Height:
short stature (in some patients)

Neurologic Central Nervous System:
tremor (in some patients)
cerebellar hypoplasia (in some patients)
mental retardation, variable
intellectual disability, mild to severe
gait disturbances (in some patients)
more
Genitourinary External Genitalia Male:
microphallus (in some patients)
microorchidism (in some patients)


Clinical features from OMIM:

300957

Human phenotypes related to Mental Retardation, X-Linked 12:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 intellectual disability 32 obligate (100%) HP:0001249
3 gait disturbance 32 occasional (7.5%) HP:0001288
4 generalized hypotonia 32 HP:0001290
5 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
6 tremor 32 occasional (7.5%) HP:0001337
7 truncal obesity 32 occasional (7.5%) HP:0001956
8 gliosis 32 HP:0002171
9 short stature 32 occasional (7.5%) HP:0004322
10 microphallus 32 occasional (7.5%) HP:0030260

Drugs & Therapeutics for Mental Retardation, X-Linked 12

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 12

Genetic Tests for Mental Retardation, X-Linked 12

Genetic tests related to Mental Retardation, X-Linked 12:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked 12 29 THOC2

Anatomical Context for Mental Retardation, X-Linked 12

Publications for Mental Retardation, X-Linked 12

Variations for Mental Retardation, X-Linked 12

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked 12:

75
# Symbol AA change Variation ID SNP ID
1 THOC2 p.Leu313Phe VAR_075718 rs797045019
2 THOC2 p.Leu438Pro VAR_075719 rs797045018
3 THOC2 p.Ile800Thr VAR_075720 rs797045021
4 THOC2 p.Ser1012Pro VAR_075721 rs797045020

ClinVar genetic disease variations for Mental Retardation, X-Linked 12:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 THOC2 NM_001081550.1(THOC2): c.1313T> C (p.Leu438Pro) single nucleotide variant Pathogenic rs797045018 GRCh37 Chromosome X, 122799566: 122799566
2 THOC2 NM_001081550.1(THOC2): c.1313T> C (p.Leu438Pro) single nucleotide variant Pathogenic rs797045018 GRCh38 Chromosome X, 123665715: 123665715
3 THOC2 NM_001081550.1(THOC2): c.937C> T (p.Leu313Phe) single nucleotide variant Pathogenic rs797045019 GRCh37 Chromosome X, 122802090: 122802090
4 THOC2 NM_001081550.1(THOC2): c.937C> T (p.Leu313Phe) single nucleotide variant Pathogenic rs797045019 GRCh38 Chromosome X, 123668239: 123668239
5 THOC2 NM_001081550.1(THOC2): c.3034T> C (p.Ser1012Pro) single nucleotide variant Pathogenic rs797045020 GRCh38 Chromosome X, 123625935: 123625935
6 THOC2 NM_001081550.1(THOC2): c.3034T> C (p.Ser1012Pro) single nucleotide variant Pathogenic rs797045020 GRCh37 Chromosome X, 122759786: 122759786
7 THOC2 NM_001081550.1(THOC2): c.2399T> C (p.Ile800Thr) single nucleotide variant Pathogenic rs797045021 GRCh38 Chromosome X, 123631770: 123631770
8 THOC2 NM_001081550.1(THOC2): c.2399T> C (p.Ile800Thr) single nucleotide variant Pathogenic rs797045021 GRCh37 Chromosome X, 122765621: 122765621

Expression for Mental Retardation, X-Linked 12

Search GEO for disease gene expression data for Mental Retardation, X-Linked 12.

Pathways for Mental Retardation, X-Linked 12

GO Terms for Mental Retardation, X-Linked 12

Sources for Mental Retardation, X-Linked 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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