MRX12
MCID: MNT305
MIFTS: 20

Mental Retardation, X-Linked 12 (MRX12)

Categories: Genetic diseases, Mental diseases, Neuronal 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 58 76 30 6
Mental Retardation, X-Linked 35 58 76
Mrx12 58 76
Mrx35 58 76
Mental Retardation, X-Linked, Type 12/35 41
Mental Retardation, X-Linked 35; Mrx35 58
Mental Retardation, X-Linked 12/35 58
Mental Retardation, X-Linked 12/3 76

Characteristics:

OMIM:

58
Inheritance:
x-linked recessive

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


HPO:

33
mental retardation, x-linked 12:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked 12

UniProtKB/Swiss-Prot : 76 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 intellectual disability and gait disturbance

Description from OMIM: 300957

Symptoms & Phenotypes for Mental Retardation, X-Linked 12

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

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 obligate (100%) HP:0001249
2 gait disturbance 33 occasional (7.5%) HP:0001288
3 tremor 33 occasional (7.5%) HP:0001337
4 microcephaly 33 occasional (7.5%) HP:0000252
5 short stature 33 occasional (7.5%) HP:0004322
6 cerebellar hypoplasia 33 occasional (7.5%) HP:0001321
7 truncal obesity 33 occasional (7.5%) HP:0001956
8 microphallus 33 occasional (7.5%) HP:0030260
9 increased body mass index 33 very rare (1%) HP:0031418
10 generalized hypotonia 33 HP:0001290
11 gliosis 33 HP:0002171

Symptoms via clinical synopsis from OMIM:

58
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

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 30 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:

76
# 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 (show all 30)
# 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
9 THOC2 NM_001081550.1(THOC2): c.4450-2A> G single nucleotide variant Likely pathogenic rs1556005930 GRCh37 Chromosome X, 122747561: 122747561
10 THOC2 NM_001081550.1(THOC2): c.4450-2A> G single nucleotide variant Likely pathogenic rs1556005930 GRCh38 Chromosome X, 123613710: 123613710
11 THOC2 NM_001081550.1(THOC2): c.3781A> C (p.Asn1261His) single nucleotide variant Uncertain significance rs1556014537 GRCh37 Chromosome X, 122756613: 122756613
12 THOC2 NM_001081550.1(THOC2): c.3781A> C (p.Asn1261His) single nucleotide variant Uncertain significance rs1556014537 GRCh38 Chromosome X, 123622762: 123622762
13 THOC2 NM_001081550.1(THOC2): c.3559C> T (p.His1187Tyr) single nucleotide variant Likely pathogenic rs1556014935 GRCh37 Chromosome X, 122757079: 122757079
14 THOC2 NM_001081550.1(THOC2): c.3559C> T (p.His1187Tyr) single nucleotide variant Likely pathogenic rs1556014935 GRCh38 Chromosome X, 123623228: 123623228
15 THOC2 NM_001081550.1(THOC2): c.3503+4A> C single nucleotide variant Likely pathogenic rs1556015437 GRCh37 Chromosome X, 122757634: 122757634
16 THOC2 NM_001081550.1(THOC2): c.3503+4A> C single nucleotide variant Likely pathogenic rs1556015437 GRCh38 Chromosome X, 123623783: 123623783
17 THOC2 NM_001081550.1(THOC2): c.3361A> G (p.Arg1121Gly) single nucleotide variant Uncertain significance rs1556015553 GRCh38 Chromosome X, 123623929: 123623929
18 THOC2 NM_001081550.1(THOC2): c.3361A> G (p.Arg1121Gly) single nucleotide variant Uncertain significance rs1556015553 GRCh37 Chromosome X, 122757780: 122757780
19 THOC2 NM_001081550.1(THOC2): c.3323C> T (p.Ser1108Leu) single nucleotide variant Uncertain significance rs1556015593 GRCh37 Chromosome X, 122757818: 122757818
20 THOC2 NM_001081550.1(THOC2): c.3323C> T (p.Ser1108Leu) single nucleotide variant Uncertain significance rs1556015593 GRCh38 Chromosome X, 123623967: 123623967
21 THOC2 NM_001081550.1(THOC2): c.2138G> A (p.Gly713Asp) single nucleotide variant Pathogenic rs1556023928 GRCh37 Chromosome X, 122766890: 122766890
22 THOC2 NM_001081550.1(THOC2): c.2138G> A (p.Gly713Asp) single nucleotide variant Pathogenic rs1556023928 GRCh38 Chromosome X, 123633039: 123633039
23 THOC2 NM_001081550.1(THOC2): c.2087C> T (p.Thr696Ile) single nucleotide variant Pathogenic rs1556024875 GRCh38 Chromosome X, 123634002: 123634002
24 THOC2 NM_001081550.1(THOC2): c.2087C> T (p.Thr696Ile) single nucleotide variant Pathogenic rs1556024875 GRCh37 Chromosome X, 122767853: 122767853
25 THOC2 NM_001081550.1(THOC2): c.1550A> G (p.Tyr517Cys) single nucleotide variant Uncertain significance rs1556036052 GRCh37 Chromosome X, 122778639: 122778639
26 THOC2 NM_001081550.1(THOC2): c.1550A> G (p.Tyr517Cys) single nucleotide variant Uncertain significance rs1556036052 GRCh38 Chromosome X, 123644788: 123644788
27 THOC2 NM_001081550.1(THOC2): c.229C> T (p.Arg77Cys) single nucleotide variant Uncertain significance rs1556302160 GRCh37 Chromosome X, 122837349: 122837349
28 THOC2 NM_001081550.1(THOC2): c.229C> T (p.Arg77Cys) single nucleotide variant Uncertain significance rs1556302160 GRCh38 Chromosome X, 123703499: 123703499
29 THOC2 NM_001081550.2(THOC2): c.133T> A (p.Phe45Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 122840797: 122840797
30 THOC2 NM_001081550.2(THOC2): c.133T> A (p.Phe45Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 123706947: 123706947

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

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