MRT46
MCID: MNT227
MIFTS: 23

Mental Retardation, Autosomal Recessive 46 (MRT46)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, Autosomal Recessive 46

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 46:

Name: Mental Retardation, Autosomal Recessive 46 57 72 29 6 70
Mrt46 57 72
Mental Retardation, Autosomal Recessive, Type 46 39

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy or early childhood


HPO:

31
mental retardation, autosomal recessive 46:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 46

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 46: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT46 manifestations include delayed psychomotor development apparent from infancy or early childhood, delayed or absent expressive speech, hypotonia, and therapy-responsive seizures in some patients. Behavioral abnormalities are variable and include aggression, self- injurious behavior, and sleep disturbances.

MalaCards based summary : Mental Retardation, Autosomal Recessive 46, is also known as mrt46, and has symptoms including agitation and sleep disturbances. An important gene associated with Mental Retardation, Autosomal Recessive 46 is NDST1 (N-Deacetylase And N-Sulfotransferase 1). Related phenotypes are seizure and intellectual disability

More information from OMIM: 616116 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 46

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Recessive 18 Mental Retardation, Autosomal Dominant 10
Mental Retardation, Autosomal Dominant 11 Mental Retardation, Autosomal Recessive 31
Mental Retardation, Autosomal Recessive 29 Mental Retardation, Autosomal Recessive 27
Mental Retardation, Autosomal Recessive 33 Mental Retardation, Autosomal Recessive 30
Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 23
Mental Retardation, Autosomal Recessive 24 Mental Retardation, Autosomal Recessive 25
Mental Retardation, Autosomal Recessive 28 Mental Retardation, Autosomal Dominant 13
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 37 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Recessive 44 Mental Retardation, Autosomal Recessive 45
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Dominant 30
Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Dominant 34
Mental Retardation, Autosomal Dominant 35 Mental Retardation, Autosomal Dominant 36
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Recessive 50
Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Dominant 40
Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 52
Mental Retardation, Autosomal Recessive 53 Mental Retardation, Autosomal Dominant 41
Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Dominant 43
Mental Retardation, Autosomal Recessive 54 Mental Retardation, Autosomal Recessive 56
Mental Retardation, Autosomal Recessive 57 Mental Retardation, Autosomal Recessive 58
Mental Retardation, Autosomal Recessive 59 Mental Retardation, Autosomal Recessive 60
Mental Retardation, Autosomal Dominant 45 Mental Retardation, Autosomal Dominant 46
Mental Retardation, Autosomal Dominant 47 Mental Retardation, Autosomal Dominant 48
Mental Retardation, Autosomal Recessive 61 Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56 Mental Retardation, Autosomal Dominant 57
Mental Retardation, Autosomal Recessive 63 Mental Retardation, Autosomal Recessive 64
Mental Retardation, Autosomal Dominant 58 Mental Retardation, Autosomal Recessive 65
Mental Retardation, Autosomal Recessive 66 Autosomal Dominant Mental Retardation 55

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 46

Human phenotypes related to Mental Retardation, Autosomal Recessive 46:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizure 31 occasional (7.5%) HP:0001250
2 intellectual disability 31 HP:0001249
3 sleep disturbance 31 HP:0002360
4 global developmental delay 31 HP:0001263
5 growth delay 31 HP:0001510
6 aggressive behavior 31 HP:0000718
7 generalized hypotonia 31 HP:0001290
8 poor speech 31 HP:0002465
9 agitation 31 HP:0000713

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
poor speech
mental retardation
seizures (in some patients)
delayed psychomotor development

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
agitation
sleep disturbances
aggression

Growth Other:
poor growth

Clinical features from OMIM®:

616116 (Updated 05-Apr-2021)

UMLS symptoms related to Mental Retardation, Autosomal Recessive 46:


agitation; sleep disturbances

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 46

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 46

Genetic Tests for Mental Retardation, Autosomal Recessive 46

Genetic tests related to Mental Retardation, Autosomal Recessive 46:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 46 29 NDST1

Anatomical Context for Mental Retardation, Autosomal Recessive 46

Publications for Mental Retardation, Autosomal Recessive 46

Articles related to Mental Retardation, Autosomal Recessive 46:

# Title Authors PMID Year
1
NDST1 missense mutations in autosomal recessive intellectual disability. 6 57
25125150 2014
2
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 57 6
21937992 2011
3
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing. 6
27620904 2017
4
The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations. 6
27870114 2016

Variations for Mental Retardation, Autosomal Recessive 46

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 46:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDST1 NM_001543.5(NDST1):c.2126G>A (p.Arg709Gln) SNV Pathogenic 161409 rs606231456 GRCh37: 5:149925029-149925029
GRCh38: 5:150545467-150545467
2 NDST1 NM_001543.5(NDST1):c.1926G>T (p.Glu642Asp) SNV Pathogenic 161410 rs606231457 GRCh37: 5:149922489-149922489
GRCh38: 5:150542927-150542927
3 NDST1 NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) SNV Pathogenic/Likely pathogenic 161412 rs606231459 GRCh37: 5:149921213-149921213
GRCh38: 5:150541651-150541651
4 NDST1 NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu) SNV Likely pathogenic 161411 rs606231458 GRCh37: 5:149922481-149922481
GRCh38: 5:150542919-150542919
5 NDST1 NM_001543.5(NDST1):c.239G>A (p.Arg80His) SNV Uncertain significance 435943 rs145390254 GRCh37: 5:149901055-149901055
GRCh38: 5:150521493-150521493
6 NDST1 NM_001543.5(NDST1):c.340G>T (p.Glu114Ter) SNV Uncertain significance 225420 rs1085307082 GRCh37: 5:149901156-149901156
GRCh38: 5:150521594-150521594
7 NDST1 NM_001543.5(NDST1):c.2401A>T (p.Thr801Ser) SNV Uncertain significance 547959 rs760333260 GRCh37: 5:149929324-149929324
GRCh38: 5:150549762-150549762
8 NDST1 NM_001543.5(NDST1):c.1360C>T (p.Arg454Cys) SNV Uncertain significance 547990 rs150009231 GRCh37: 5:149915370-149915370
GRCh38: 5:150535808-150535808
9 NDST1 NM_001543.5(NDST1):c.39C>G (p.His13Gln) SNV Uncertain significance 452070 rs777877507 GRCh37: 5:149900855-149900855
GRCh38: 5:150521293-150521293
10 NDST1 NM_001543.5(NDST1):c.1690G>C (p.Val564Leu) SNV Uncertain significance 444669 rs774976739 GRCh37: 5:149919767-149919767
GRCh38: 5:150540205-150540205
11 NDST1 NM_001543.5(NDST1):c.388C>T (p.Arg130Cys) SNV Uncertain significance 1027937 GRCh37: 5:149901204-149901204
GRCh38: 5:150521642-150521642
12 NDST1 NM_001543.5(NDST1):c.389G>A (p.Arg130His) SNV Uncertain significance 1027938 GRCh37: 5:149901205-149901205
GRCh38: 5:150521643-150521643
13 NDST1 NM_001543.5(NDST1):c.883G>A (p.Val295Met) SNV Uncertain significance 426984 rs747017483 GRCh37: 5:149907735-149907735
GRCh38: 5:150528173-150528173
14 NDST1 NM_001543.5(NDST1):c.2468G>C (p.Gly823Ala) SNV Uncertain significance 1032751 GRCh37: 5:149931356-149931356
GRCh38: 5:150551794-150551794
15 NDST1 NM_001543.5(NDST1):c.730C>T (p.Arg244Cys) SNV Uncertain significance 435960 rs375092472 GRCh37: 5:149907582-149907582
GRCh38: 5:150528020-150528020

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 46:

72
# Symbol AA change Variation ID SNP ID
1 NDST1 p.Gly611Ser VAR_072646 rs606231459
2 NDST1 p.Phe640Leu VAR_072647 rs606231458
3 NDST1 p.Glu642Asp VAR_072648 rs606231457
4 NDST1 p.Arg709Gln VAR_072649 rs606231456

Expression for Mental Retardation, Autosomal Recessive 46

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 46.

Pathways for Mental Retardation, Autosomal Recessive 46

GO Terms for Mental Retardation, Autosomal Recessive 46

Sources for Mental Retardation, Autosomal Recessive 46

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
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