MRD58
MCID: MNT337
MIFTS: 24

Mental Retardation, Autosomal Dominant 58 (MRD58)

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 58

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 58:

Name: Mental Retardation, Autosomal Dominant 58 57 72 29 6
Mrd58 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation (in most patients)


HPO:

31
mental retardation, autosomal dominant 58:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 58

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal dominant 58: 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. MRD58 is characterized by delayed development, intellectual disability, language delay and speech impairment. Some patients have motor delay or incoordination, and minor dysmorphic features.

MalaCards based summary : Mental Retardation, Autosomal Dominant 58, is also known as mrd58. An important gene associated with Mental Retardation, Autosomal Dominant 58 is SET (SET Nuclear Proto-Oncogene). Affiliated tissues include eye, and related phenotypes are seizure and intellectual disability

More information from OMIM: 618106 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 58

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 58

Human phenotypes related to Mental Retardation, Autosomal Dominant 58:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 seizure 31 very rare (1%) HP:0001250
2 intellectual disability 31 HP:0001249
3 high palate 31 HP:0000218
4 global developmental delay 31 HP:0001263
5 hypertelorism 31 HP:0000316
6 macrotia 31 HP:0000400
7 wide nasal bridge 31 HP:0000431
8 delayed speech and language development 31 HP:0000750
9 abnormal facial shape 31 HP:0001999
10 thick vermilion border 31 HP:0012471
11 microcephaly 31 HP:0000252
12 wide mouth 31 HP:0000154
13 dental crowding 31 HP:0000678
14 joint hypermobility 31 HP:0001382
15 facial asymmetry 31 HP:0000324
16 plagiocephaly 31 HP:0001357
17 generalized hypotonia 31 HP:0001290
18 poor speech 31 HP:0002465
19 incoordination 31 HP:0002311
20 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
poor speech
incoordination
delayed psychomotor development
delayed walking
more
Head And Neck Eyes:
hypertelorism

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

Muscle Soft Tissue:
hypotonia

Head And Neck Ears:
large ears

Head And Neck Mouth:
high palate
wide mouth
thick lips

Head And Neck Teeth:
dental crowding

Head And Neck Head:
plagiocephaly
small head circumference

Head And Neck Nose:
broad nasal bridge

Skeletal:
hypermobility

Clinical features from OMIM®:

618106 (Updated 20-May-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 58

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 58

Genetic Tests for Mental Retardation, Autosomal Dominant 58

Genetic tests related to Mental Retardation, Autosomal Dominant 58:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 58 29 SET

Anatomical Context for Mental Retardation, Autosomal Dominant 58

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 58:

40
Eye

Publications for Mental Retardation, Autosomal Dominant 58

Articles related to Mental Retardation, Autosomal Dominant 58:

# Title Authors PMID Year
1
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability. 6 57
29688601 2018
2
Prevalence and architecture of de novo mutations in developmental disorders. 57 6
28135719 2017
3
De novo mutations in moderate or severe intellectual disability. 6 57
25356899 2014

Variations for Mental Retardation, Autosomal Dominant 58

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 58:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SET NM_003011.4(SET):c.126_129AGAC[1] (p.Arg44fs) Deletion Pathogenic 521454 rs1554776342 GRCh37: 9:131453501-131453504
GRCh38: 9:128691222-128691225
2 SET NM_003011.4(SET):c.244T>G (p.Trp82Gly) SNV Pathogenic 560206 rs1554776500 GRCh37: 9:131454249-131454249
GRCh38: 9:128691970-128691970
3 SET NM_003011.4(SET):c.313C>T (p.His105Tyr) SNV Pathogenic 560207 rs1564360978 GRCh37: 9:131454979-131454979
GRCh38: 9:128692700-128692700
4 SET NM_003011.4(SET):c.650_651dup (p.Gln218fs) Duplication Pathogenic 560208 rs1554776933 GRCh37: 9:131456073-131456074
GRCh38: 9:128693794-128693795
5 SET NM_003011.4(SET):c.660_662del (p.Tyr220_Leu221delinsTer) Deletion Pathogenic 560209 rs1554776938 GRCh37: 9:131456084-131456086
GRCh38: 9:128693805-128693807
6 SET NM_003011.4(SET):c.414_415TC[2] (p.Ser140fs) Microsatellite Pathogenic 807681 rs1589460606 GRCh37: 9:131455182-131455183
GRCh38: 9:128692903-128692904
7 SET NM_003011.4(SET):c.340_341del (p.Glu114fs) Deletion Likely pathogenic 870584 GRCh37: 9:131455005-131455006
GRCh38: 9:128692726-128692727
8 SET NM_003011.4(SET):c.573del (p.Trp192fs) Deletion Likely pathogenic 975964 GRCh37: 9:131455996-131455996
GRCh38: 9:128693717-128693717
9 SET NM_003011.4(SET):c.73+351A>T SNV Uncertain significance 1031254 GRCh37: 9:131452285-131452285
GRCh38: 9:128690006-128690006
10 SET NM_003011.4(SET):c.74-3C>G SNV Uncertain significance 873445 GRCh37: 9:131453446-131453446
GRCh38: 9:128691167-128691167
11 SET NM_003011.4(SET):c.73_73+1insAAAAAGAACAGCAAGAAGCGATTGAACACATTGAT Insertion Uncertain significance 930935 GRCh37: 9:131451934-131451935
GRCh38: 9:128689655-128689656

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 58:

72
# Symbol AA change Variation ID SNP ID
1 SET p.Trp95Gly VAR_081147 rs155477650
2 SET p.His118Tyr VAR_081148 rs156436097

Expression for Mental Retardation, Autosomal Dominant 58

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 58.

Pathways for Mental Retardation, Autosomal Dominant 58

GO Terms for Mental Retardation, Autosomal Dominant 58

Sources for Mental Retardation, Autosomal Dominant 58

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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