MRX12
MCID: MNT305
MIFTS: 31

Mental Retardation, X-Linked 12 (MRX12)

Categories: Fetal diseases, 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 57 72 29 6
Mrx12 57 12 72
Mrx35 57 12 72
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome 12 58
Mental Retardation, X-Linked 12/35 57 29
Mental Retardation, X-Linked 35 57 72
Mental Retardation, X-Linked, Type 12/35 39
Mental Retardation, X-Linked 35; Mrx35 57
Mental Retardation, X-Linked 12/3 72
X-Linked Mental Retardation 12 12
X-Linked Mental Retardation 35 12

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability-short stature-overweight syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked recessive

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


HPO:

31
mental retardation, x-linked 12:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Mental Retardation, X-Linked 12

UniProtKB/Swiss-Prot : 72 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, also known as mrx12, is related to mental retardation, x-linked, syndromic, 35. An important gene associated with Mental Retardation, X-Linked 12 is THOC2 (THO Complex 2). Affiliated tissues include cerebellum, and related phenotypes are tremor and high palate

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has material basis in hemizygous mutation in THOC2 on chromosome Xq25.

More information from OMIM: 300957 PS309530

Related Diseases for Mental Retardation, X-Linked 12

Symptoms & Phenotypes for Mental Retardation, X-Linked 12

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

58 31 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tremor 58 31 very rare (1%) Frequent (79-30%) HP:0001337
2 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
3 delayed speech and language development 58 31 very rare (1%) Frequent (79-30%) HP:0000750
4 short stature 58 31 very rare (1%) Frequent (79-30%) HP:0004322
5 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
6 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
7 overweight 58 31 frequent (33%) Frequent (79-30%) HP:0025502
8 hypotonia 31 very rare (1%) HP:0001252
9 nystagmus 58 31 very rare (1%) Occasional (29-5%) HP:0000639
10 depressivity 58 31 very rare (1%) Occasional (29-5%) HP:0000716
11 gait disturbance 58 31 very rare (1%) Occasional (29-5%) HP:0001288
12 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
13 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
14 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
15 microcephaly 58 31 very rare (1%) Occasional (29-5%) HP:0000252
16 stereotypy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000733
17 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
18 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
19 anxiety 58 31 very rare (1%) Occasional (29-5%) HP:0000739
20 myocardial infarction 58 31 occasional (7.5%) Occasional (29-5%) HP:0001658
21 pulmonary fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002206
22 micropenis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000054
23 broad forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000337
24 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
25 decreased testicular size 58 31 occasional (7.5%) Occasional (29-5%) HP:0008734
26 single transverse palmar crease 58 31 occasional (7.5%) Occasional (29-5%) HP:0000954
27 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
28 cranial hyperostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004437
29 self-mutilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0000742
30 cerebellar dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007033
31 hyperkinetic movements 58 31 very rare (1%) Occasional (29-5%) HP:0002487
32 gliosis 58 31 very rare (1%) Occasional (29-5%) HP:0002171
33 upper limb spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0006986
34 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
35 decreased response to growth hormone stimuation test 31 occasional (7.5%) HP:0000824
36 intellectual disability 31 very rare (1%) HP:0001249
37 spasticity 31 very rare (1%) HP:0001257
38 sensorineural hearing impairment 31 very rare (1%) HP:0000407
39 visual impairment 31 very rare (1%) HP:0000505
40 cryptorchidism 31 very rare (1%) HP:0000028
41 joint laxity 31 very rare (1%) HP:0001388
42 ventriculomegaly 31 very rare (1%) HP:0002119
43 premature birth 31 very rare (1%) HP:0001622
44 abnormal cerebellum morphology 31 very rare (1%) HP:0001317
45 abnormality of neuronal migration 31 very rare (1%) HP:0002269
46 truncal obesity 31 very rare (1%) HP:0001956
47 feeding difficulties 31 very rare (1%) HP:0011968
48 cerebellar vermis hypoplasia 31 very rare (1%) HP:0001320
49 small for gestational age 31 very rare (1%) HP:0001518
50 abnormality of the cerebral white matter 31 very rare (1%) HP:0002500

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
hypotonia

Growth Height:
short stature (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)

Neurologic Central Nervous System:
seizures (in some patients)
tremor (in some patients)
cerebellar hypoplasia (in some patients)
mental retardation, variable
intellectual disability, mild to severe
more
Head And Neck Head:
microcephaly (in some patients)

Genitourinary External Genitalia Male:
microphallus (in some patients)
microorchidism (in some patients)

Clinical features from OMIM®:

300957 (Updated 20-May-2021)

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
2 Mental Retardation, X-Linked 12/35 29

Anatomical Context for Mental Retardation, X-Linked 12

MalaCards organs/tissues related to Mental Retardation, X-Linked 12:

40
Cerebellum

Publications for Mental Retardation, X-Linked 12

Articles related to Mental Retardation, X-Linked 12:

# Title Authors PMID Year
1
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. 61 6 57
26166480 2015
2
Localization of non-specific X-linked mental retardation genes. 61 57 6
1605217 1992
3
Localisation of a new gene for non-specific mental retardation to Xq22-q26 (MRX35). 6 57
8825049 1996

Variations for Mental Retardation, X-Linked 12

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

6 (show all 34)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 THOC2 NM_001081550.2(THOC2):c.2138G>A (p.Gly713Asp) SNV Pathogenic 488431 rs1556023928 GRCh37: X:122766890-122766890
GRCh38: X:123633039-123633039
2 THOC2 NM_001081550.2(THOC2):c.1313T>C (p.Leu438Pro) SNV Pathogenic 208523 rs797045018 GRCh37: X:122799566-122799566
GRCh38: X:123665715-123665715
3 THOC2 NM_001081550.2(THOC2):c.937C>T (p.Leu313Phe) SNV Pathogenic 208524 rs797045019 GRCh37: X:122802090-122802090
GRCh38: X:123668239-123668239
4 THOC2 NM_001081550.2(THOC2):c.3034T>C (p.Ser1012Pro) SNV Pathogenic 208525 rs797045020 GRCh37: X:122759786-122759786
GRCh38: X:123625935-123625935
5 THOC2 NM_001081550.2(THOC2):c.2399T>C (p.Ile800Thr) SNV Pathogenic 208526 rs797045021 GRCh37: X:122765621-122765621
GRCh38: X:123631770-123631770
6 THOC2 NM_001081550.2(THOC2):c.3305A>G (p.Tyr1102Cys) SNV Likely pathogenic 984647 GRCh37: X:122757924-122757924
GRCh38: X:123624073-123624073
7 THOC2 NM_001081550.2(THOC2):c.149A>C (p.Tyr50Ser) SNV Likely pathogenic 807709 rs1603326578 GRCh37: X:122840781-122840781
GRCh38: X:123706931-123706931
8 THOC2 NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile) SNV Likely pathogenic 488430 rs1556024875 GRCh37: X:122767853-122767853
GRCh38: X:123634002-123634002
9 THOC2 NM_001081550.2(THOC2):c.1942G>T (p.Ala648Ser) SNV Likely pathogenic 982367 GRCh37: X:122770006-122770006
GRCh38: X:123636155-123636155
10 THOC2 NM_001081550.2(THOC2):c.3559C>T (p.His1187Tyr) SNV Likely pathogenic 488432 rs1556014935 GRCh37: X:122757079-122757079
GRCh38: X:123623228-123623228
11 THOC2 NM_001081550.2(THOC2):c.3503+4A>C SNV Likely pathogenic 488433 rs1556015437 GRCh37: X:122757634-122757634
GRCh38: X:123623783-123623783
12 THOC2 NM_001081550.2(THOC2):c.4450-2A>G SNV Likely pathogenic 488434 rs1556005930 GRCh37: X:122747561-122747561
GRCh38: X:123613710-123613710
13 THOC2 NM_001081550.2(THOC2):c.1550A>G (p.Tyr517Cys) SNV Uncertain significance 488435 rs1556036052 GRCh37: X:122778639-122778639
GRCh38: X:123644788-123644788
14 THOC2 NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) SNV Uncertain significance 488436 rs1556302160 GRCh37: X:122837349-122837349
GRCh38: X:123703499-123703499
15 THOC2 NM_001081550.2(THOC2):c.3323C>T (p.Ser1108Leu) SNV Uncertain significance 488437 rs1556015593 GRCh37: X:122757818-122757818
GRCh38: X:123623967-123623967
16 THOC2 NM_001081550.2(THOC2):c.3361A>G (p.Arg1121Gly) SNV Uncertain significance 488438 rs1556015553 GRCh37: X:122757780-122757780
GRCh38: X:123623929-123623929
17 THOC2 NM_001081550.2(THOC2):c.3781A>C (p.Asn1261His) SNV Uncertain significance 488439 rs1556014537 GRCh37: X:122756613-122756613
GRCh38: X:123622762-123622762
18 THOC2 NM_001081550.2(THOC2):c.1996A>G (p.Asn666Asp) SNV Uncertain significance 804354 rs1603255389 GRCh37: X:122769952-122769952
GRCh38: X:123636101-123636101
19 THOC2 NM_001081550.2(THOC2):c.2170A>G (p.Lys724Glu) SNV Uncertain significance 804355 rs1603252573 GRCh37: X:122766858-122766858
GRCh38: X:123633007-123633007
20 THOC2 NM_001081550.2(THOC2):c.2642A>G (p.Tyr881Cys) SNV Uncertain significance 804356 rs1603246794 GRCh37: X:122761659-122761659
GRCh38: X:123627808-123627808
21 THOC2 NM_001081550.2(THOC2):c.2942G>A (p.Cys981Tyr) SNV Uncertain significance 522108 rs1556017474 GRCh37: X:122759878-122759878
GRCh38: X:123626027-123626027
22 THOC2 NM_001081550.2(THOC2):c.3223C>T (p.Arg1075Trp) SNV Uncertain significance 804357 rs1603242504 GRCh37: X:122758006-122758006
GRCh38: X:123624155-123624155
23 THOC2 NM_001081550.2(THOC2):c.3300G>T (p.Trp1100Cys) SNV Uncertain significance 804358 rs1603242447 GRCh37: X:122757929-122757929
GRCh38: X:123624078-123624078
24 THOC2 NM_001081550.2(THOC2):c.4646A>G (p.Lys1549Arg) SNV Uncertain significance 804359 rs1603229932 GRCh37: X:122747281-122747281
GRCh38: X:123613430-123613430
25 THOC2 NM_001081550.2(THOC2):c.4678-572_*18+1195del Deletion Uncertain significance 804360 GRCh37: X:122743574-122745939
GRCh38: X:123609723-123612088
26 THOC2 NM_001081550.2(THOC2):c.195G>C (p.Gln65His) SNV Uncertain significance 1029050 GRCh37: X:122840735-122840735
GRCh38: X:123706885-123706885
27 THOC2 NM_001081550.2(THOC2):c.2734G>C (p.Ala912Pro) SNV Uncertain significance 1029051 GRCh37: X:122761567-122761567
GRCh38: X:123627716-123627716
28 THOC2 NM_001081550.2(THOC2):c.2993G>A (p.Arg998His) SNV Uncertain significance 1029052 GRCh37: X:122759827-122759827
GRCh38: X:123625976-123625976
29 THOC2 NM_001081550.2(THOC2):c.2414A>G (p.Asn805Ser) SNV Uncertain significance 1033275 GRCh37: X:122765606-122765606
GRCh38: X:123631755-123631755
30 THOC2 NM_001081550.2(THOC2):c.4519+3A>G SNV Uncertain significance 996890 GRCh37: X:122747487-122747487
GRCh38: X:123613636-123613636
31 THOC2 NM_001081550.2(THOC2):c.3613G>C (p.Gly1205Arg) SNV Uncertain significance 930987 GRCh37: X:122757025-122757025
GRCh38: X:123623174-123623174
32 THOC2 NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile) SNV Uncertain significance 592093 rs1569441509 GRCh37: X:122840797-122840797
GRCh38: X:123706947-123706947
33 THOC2 NM_001081550.2(THOC2):c.1967A>G (p.Asp656Gly) SNV Uncertain significance 973335 GRCh37: X:122769981-122769981
GRCh38: X:123636130-123636130
34 SIL1 NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) SNV Benign 351086 rs149242794 GRCh37: 5:138386706-138386706
GRCh38: 5:139051017-139051017

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

72
# 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

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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