MRD50
MCID: MNT326
MIFTS: 23

Mental Retardation, Autosomal Dominant 50 (MRD50)

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 Dominant 50

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 50:

Name: Mental Retardation, Autosomal Dominant 50 57 72 6
Mrd50 57 72
Autosomal Dominant Mental Retardation 50 12

Characteristics:

OMIM®:

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

Miscellaneous:
highly variable phenotype
de novo mutation (in most patients)


HPO:

31
mental retardation, autosomal dominant 50:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080233
OMIM® 57 617787
OMIM Phenotypic Series 57 PS156200
MeSH 44 D008607

Summaries for Mental Retardation, Autosomal Dominant 50

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal dominant 50: 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.

MalaCards based summary : Mental Retardation, Autosomal Dominant 50, is also known as mrd50. An important gene associated with Mental Retardation, Autosomal Dominant 50 is NAA15 (N-Alpha-Acetyltransferase 15, NatA Auxiliary Subunit). Affiliated tissues include heart, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in heterozygous mutation in the NAA15 gene on chromosome 4q31.

More information from OMIM: 617787 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 50

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 Dominant 50

Human phenotypes related to Mental Retardation, Autosomal Dominant 50:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 delayed speech and language development 31 HP:0000750
4 motor delay 31 HP:0001270
5 autistic behavior 31 HP:0000729

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
motor delay
speech delay
delayed development
intellectual disability, variable

Head And Neck Face:
dysmorphic features, nonspecific, variable (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autistic features
behavioral problems
autism spectrum disorder

Clinical features from OMIM®:

617787 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 50

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 50

Genetic Tests for Mental Retardation, Autosomal Dominant 50

Anatomical Context for Mental Retardation, Autosomal Dominant 50

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 50:

40
Heart

Publications for Mental Retardation, Autosomal Dominant 50

Articles related to Mental Retardation, Autosomal Dominant 50:

# Title Authors PMID Year
1
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. 57 6
29656860 2018
2
Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia. 57 6
28303347 2017
3
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 57 6
28191889 2017
4
De novo mutations in histone-modifying genes in congenital heart disease. 57
23665959 2013
5
Using the cytosensor microphysiometer to assess ocular toxicity. 61
25104266 2014
6
Use of the cytosensor microphysiometer to predict results of a 21-day cumulative irritation patch test in humans. 61
17475442 2007

Variations for Mental Retardation, Autosomal Dominant 50

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 50:

6 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NAA15 NM_057175.5(NAA15):c.2322C>G (p.Tyr774Ter) SNV Pathogenic 268211 rs886041097 GRCh37: 4:140307306-140307306
GRCh38: 4:139386152-139386152
2 NAA15 NM_057175.5(NAA15):c.2086A>T (p.Lys696Ter) SNV Pathogenic 446519 rs1553998565 GRCh37: 4:140299939-140299939
GRCh38: 4:139378785-139378785
3 NAA15 NM_057175.4(NAA15):c.228_232del (p.Asp76Glufs) Deletion Pathogenic 446520 rs1380822792 GRCh37: 4:140258087-140258091
GRCh38: 4:139336933-139336937
4 NAA15 NM_057175.5(NAA15):c.1695T>A (p.Tyr565Ter) SNV Pathogenic 446518 rs1553997065 GRCh37: 4:140283033-140283033
GRCh38: 4:139361879-139361879
5 NAA15 NM_057175.5(NAA15):c.163del (p.Thr55fs) Deletion Pathogenic 559845 rs1553994814 GRCh37: 4:140258024-140258024
GRCh38: 4:139336870-139336870
6 NAA15 NM_057175.5(NAA15):c.1009_1012del (p.Glu337fs) Deletion Pathogenic 559846 rs1553996086 GRCh37: 4:140272757-140272760
GRCh38: 4:139351603-139351606
7 NAA15 NM_057175.5(NAA15):c.913A>T (p.Lys305Ter) SNV Pathogenic 559847 rs1553996072 GRCh37: 4:140272664-140272664
GRCh38: 4:139351510-139351510
8 NAA15 NM_057175.5(NAA15):c.1754-2A>G SNV Pathogenic 983082 GRCh37: 4:140291363-140291363
GRCh38: 4:139370209-139370209
9 NAA15 NM_057175.5(NAA15):c.1446dup (p.Gln483fs) Duplication Pathogenic 983533 GRCh37: 4:140281688-140281689
GRCh38: 4:139360534-139360535
10 NAA15 NM_057175.5(NAA15):c.382C>T (p.Arg128Ter) SNV Pathogenic 521938 rs1274633498 GRCh37: 4:140262203-140262203
GRCh38: 4:139341049-139341049
11 NAA15 NM_057175.5(NAA15):c.239_240del (p.His80fs) Deletion Pathogenic 559844 rs779009256 GRCh37: 4:140258101-140258102
GRCh38: 4:139336947-139336948
12 NAA15 NM_057175.5(NAA15):c.55-2A>C SNV Likely pathogenic 977387 GRCh37: 4:140255326-140255326
GRCh38: 4:139334172-139334172
13 NAA15 NM_057175.5(NAA15):c.691+1G>A SNV Likely pathogenic 800817 rs1579109565 GRCh37: 4:140265494-140265494
GRCh38: 4:139344340-139344340
14 NAA15 NM_057175.5(NAA15):c.771C>G (p.Asn257Lys) SNV Uncertain significance 930517 GRCh37: 4:140270695-140270695
GRCh38: 4:139349541-139349541
15 NAA15 NM_057175.5(NAA15):c.1815A>T (p.Lys605Asn) SNV Uncertain significance 930712 GRCh37: 4:140291426-140291426
GRCh38: 4:139370272-139370272
16 NAA15 NM_057175.5(NAA15):c.1540-8T>G SNV Uncertain significance 1030109 GRCh37: 4:140282870-140282870
GRCh38: 4:139361716-139361716
17 NAA15 NM_057175.5(NAA15):c.233A>G (p.Lys78Arg) SNV Uncertain significance 1033027 GRCh37: 4:140258095-140258095
GRCh38: 4:139336941-139336941
18 NAA15 NM_057175.5(NAA15):c.2345G>A (p.Arg782Gln) SNV Uncertain significance 996973 GRCh37: 4:140307329-140307329
GRCh38: 4:139386175-139386175
19 NAA15 NM_057175.5(NAA15):c.266T>C (p.Leu89Pro) SNV Uncertain significance 560235 rs1560965164 GRCh37: 4:140262087-140262087
GRCh38: 4:139340933-139340933

Expression for Mental Retardation, Autosomal Dominant 50

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 50.

Pathways for Mental Retardation, Autosomal Dominant 50

GO Terms for Mental Retardation, Autosomal Dominant 50

Sources for Mental Retardation, Autosomal Dominant 50

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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