MRT12
MCID: INT398
MIFTS: 20

Intellectual Developmental Disorder, Autosomal Recessive 12 (MRT12)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder, Autosomal Recessive 12

MalaCards integrated aliases for Intellectual Developmental Disorder, Autosomal Recessive 12:

Name: Intellectual Developmental Disorder, Autosomal Recessive 12 57
Mental Retardation, Autosomal Recessive 12 72 29 13 6
Mrt12 57 72
Mental Retardation Non-Syndromic Autosomal Recessive 12 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
three families have been reported (last curated december 2020)


HPO:

31
intellectual developmental disorder, autosomal recessive 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 611090
OMIM Phenotypic Series 57 PS249500
MeSH 44 D008607
MedGen 41 C1970200

Summaries for Intellectual Developmental Disorder, Autosomal Recessive 12

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 12: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Intellectual Developmental Disorder, Autosomal Recessive 12, is also known as mental retardation, autosomal recessive 12. An important gene associated with Intellectual Developmental Disorder, Autosomal Recessive 12 is ST3GAL3 (ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3). Affiliated tissues include lung, and related phenotype is intellectual disability.

More information from OMIM: 611090 PS249500

Related Diseases for Intellectual Developmental Disorder, Autosomal Recessive 12

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Recessive 12

Human phenotypes related to Intellectual Developmental Disorder, Autosomal Recessive 12:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior

Respiratory Airways:
chronic lung disease (in some patients)

Neurologic Central Nervous System:
language delay
mental retardation (iq between 25-55)
limited language comprehension

Abdomen Biliary Tract:
neonatal jaundice (in some patients)

Clinical features from OMIM®:

611090 (Updated 05-Apr-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Recessive 12

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, Autosomal Recessive 12

Genetic Tests for Intellectual Developmental Disorder, Autosomal Recessive 12

Genetic tests related to Intellectual Developmental Disorder, Autosomal Recessive 12:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 12 29 ST3GAL3

Anatomical Context for Intellectual Developmental Disorder, Autosomal Recessive 12

MalaCards organs/tissues related to Intellectual Developmental Disorder, Autosomal Recessive 12:

40
Lung

Publications for Intellectual Developmental Disorder, Autosomal Recessive 12

Articles related to Intellectual Developmental Disorder, Autosomal Recessive 12:

# Title Authors PMID Year
1
A novel variant of ST3GAL3 causes non-syndromic autosomal recessive intellectual disability in Iranian patients. 57 6
32666583 2020
2
ST3GAL3 mutations impair the development of higher cognitive functions. 57 6
21907012 2011
3
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. 57 6
17120046 2007
4
A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3. 57
17309643 2007
5
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. 61
21063731 2011

Variations for Intellectual Developmental Disorder, Autosomal Recessive 12

ClinVar genetic disease variations for Intellectual Developmental Disorder, Autosomal Recessive 12:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ST3GAL3 NM_006279.5(ST3GAL3):c.38C>A (p.Ala13Asp) SNV Pathogenic 30587 rs387906943 GRCh37: 1:44201971-44201971
GRCh38: 1:43736300-43736300
2 ST3GAL3 NM_006279.5(ST3GAL3):c.1108G>T (p.Asp370Tyr) SNV Pathogenic 30588 rs1557612719 GRCh37: 1:44395873-44395873
GRCh38: 1:43930201-43930201
3 ST3GAL3 NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met) SNV Pathogenic 805790 rs1201878175 GRCh37: 1:44395811-44395811
GRCh38: 1:43930139-43930139
4 ST3GAL3 NM_006279.5(ST3GAL3):c.118+39G>T SNV Uncertain significance 1031618 GRCh37: 1:44202090-44202090
GRCh38: 1:43736419-43736419
5 ST3GAL3 NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) SNV Uncertain significance 198193 rs201287443 GRCh37: 1:44360114-44360114
GRCh38: 1:43894442-43894442
6 ST3GAL3 NM_006279.5(ST3GAL3):c.400A>T (p.Asn134Tyr) SNV Uncertain significance 408898 rs201834329 GRCh37: 1:44363909-44363909
GRCh38: 1:43898237-43898237
7 ST3GAL3 NM_006279.5(ST3GAL3):c.1070A>T (p.Glu357Val) SNV Uncertain significance 436877 rs141947405 GRCh37: 1:44395835-44395835
GRCh38: 1:43930163-43930163
8 ST3GAL3 NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln) SNV Uncertain significance 130377 rs553120567 GRCh37: 1:44395844-44395844
GRCh38: 1:43930172-43930172

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder, Autosomal Recessive 12:

72
# Symbol AA change Variation ID SNP ID
1 ST3GAL3 p.Ala13Asp VAR_066594 rs387906943
2 ST3GAL3 p.Asp370Tyr VAR_066595

Expression for Intellectual Developmental Disorder, Autosomal Recessive 12

Search GEO for disease gene expression data for Intellectual Developmental Disorder, Autosomal Recessive 12.

Pathways for Intellectual Developmental Disorder, Autosomal Recessive 12

GO Terms for Intellectual Developmental Disorder, Autosomal Recessive 12

Sources for Intellectual Developmental Disorder, Autosomal Recessive 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....