MRD58
MCID: MNT337
MIFTS: 24

Mental Retardation, Autosomal Dominant 58 (MRD58)

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 58

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 58:

Name: Mental Retardation, Autosomal Dominant 58 58 76 6
Mrd58 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation (in most patients)


HPO:

33
mental retardation, autosomal dominant 58:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 58

UniProtKB/Swiss-Prot : 76 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 skin, bone and eye, and related phenotypes are seizures and hypertelorism

Description from OMIM: 618106

Related Diseases for Mental Retardation, Autosomal Dominant 58

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 15
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 Dominant 18
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 24
Mental Retardation, Autosomal Dominant 26 Mental Retardation, Autosomal Dominant 27
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 Dominant 32
Mental Retardation, Autosomal Recessive 48 Mental Retardation, Autosomal Recessive 49
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 55
Mental Retardation, Autosomal Dominant 44 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 Dominant 49 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:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 hypertelorism 33 HP:0000316
3 high palate 33 HP:0000218
4 intellectual disability 33 HP:0001249
5 macrotia 33 HP:0000400
6 global developmental delay 33 HP:0001263
7 wide nasal bridge 33 HP:0000431
8 delayed speech and language development 33 HP:0000750
9 abnormal facial shape 33 HP:0001999
10 thick vermilion border 33 HP:0012471
11 microcephaly 33 HP:0000252
12 wide mouth 33 HP:0000154
13 dental crowding 33 HP:0000678
14 joint hypermobility 33 HP:0001382
15 facial asymmetry 33 HP:0000324
16 plagiocephaly 33 HP:0001357
17 generalized hypotonia 33 HP:0001290
18 incoordination 33 HP:0002311
19 poor speech 33 HP:0002465
20 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism

Neurologic Central Nervous System:
intellectual disability
incoordination
poor speech
delayed psychomotor development
delayed walking
more
Head And Neck Face:
facial asymmetry
dysmorphic features, variable, nonspecific (in some patients)

Head And Neck Nose:
broad nasal bridge

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

Muscle Soft Tissue:
hypotonia

Skeletal:
hypermobility

Clinical features from OMIM:

618106

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

Anatomical Context for Mental Retardation, Autosomal Dominant 58

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

42
Skin, Bone, Eye

Publications for Mental Retardation, Autosomal Dominant 58

Articles related to Mental Retardation, Autosomal Dominant 58:

# Title Authors 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. ( 29688601 )
2018
2
Prevalence and architecture of de novo mutations in developmental disorders. ( 28135719 )
2017
3
De novo mutations in moderate or severe intellectual disability. ( 25356899 )
2014

Variations for Mental Retardation, Autosomal Dominant 58

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

76
# Symbol AA change Variation ID SNP ID
1 SET p.Trp95Gly VAR_081147
2 SET p.His118Tyr VAR_081148

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SET NM_001122821.1(SET): c.167_170delACAG (p.Arg57Leufs) deletion Pathogenic rs1554776342 GRCh38 Chromosome 9, 128691224: 128691227
2 SET NM_001122821.1(SET): c.167_170delACAG (p.Arg57Leufs) deletion Pathogenic rs1554776342 GRCh37 Chromosome 9, 131453503: 131453506
3 SET NM_001122821.1(SET): c.283T> G (p.Trp95Gly) single nucleotide variant Pathogenic rs1554776500 GRCh37 Chromosome 9, 131454249: 131454249
4 SET NM_001122821.1(SET): c.283T> G (p.Trp95Gly) single nucleotide variant Pathogenic rs1554776500 GRCh38 Chromosome 9, 128691970: 128691970
5 SET NM_001122821.1(SET): c.352C> T (p.His118Tyr) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 131454979: 131454979
6 SET NM_001122821.1(SET): c.352C> T (p.His118Tyr) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 128692700: 128692700
7 SET NM_001122821.1(SET): c.689_690dup (p.Gln231Tyrfs) duplication Pathogenic rs1554776933 GRCh37 Chromosome 9, 131456074: 131456075
8 SET NM_001122821.1(SET): c.689_690dup (p.Gln231Tyrfs) duplication Pathogenic rs1554776933 GRCh38 Chromosome 9, 128693795: 128693796
9 SET NM_001122821.1(SET): c.699_701delCTT (p.Tyr233_Asp290del) deletion Pathogenic rs1554776938 GRCh37 Chromosome 9, 131456084: 131456086
10 SET NM_001122821.1(SET): c.699_701delCTT (p.Tyr233_Asp290del) deletion Pathogenic rs1554776938 GRCh38 Chromosome 9, 128693805: 128693807

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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