MRD58
MCID: MNT337
MIFTS: 22

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 57 6
Mrd58 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation (in most patients)


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 58

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 high palate and intellectual disability

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 Dominant 19 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
Autosomal Dominant Mental Retardation 55

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 58

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Mental Retardation, Autosomal Dominant 58:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 intellectual disability 32 HP:0001249
3 seizures 32 very rare (1%) HP:0001250
4 global developmental delay 32 HP:0001263
5 delayed speech and language development 32 HP:0000750
6 thick vermilion border 32 HP:0012471
7 microcephaly 32 HP:0000252
8 wide mouth 32 HP:0000154
9 facial asymmetry 32 HP:0000324
10 plagiocephaly 32 HP:0001357
11 incoordination 32 HP:0002311
12 poor speech 32 HP:0002465
13 delayed ability to walk 32 HP:0031936

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:

41
Skin, Bone, Eye

Publications for Mental Retardation, Autosomal Dominant 58

Variations for Mental Retardation, Autosomal Dominant 58

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 GRCh38 Chromosome 9, 128691224: 128691227
2 SET NM_001122821.1(SET): c.167_170delACAG (p.Arg57Leufs) deletion Pathogenic GRCh37 Chromosome 9, 131453503: 131453506
3 SET NM_001122821.1(SET): c.283T> G (p.Trp95Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 131454249: 131454249
4 SET NM_001122821.1(SET): c.283T> G (p.Trp95Gly) single nucleotide variant Pathogenic 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 GRCh37 Chromosome 9, 131456074: 131456075
8 SET NM_001122821.1(SET): c.689_690dup (p.Gln231Tyrfs) duplication Pathogenic GRCh38 Chromosome 9, 128693795: 128693796
9 SET NM_001122821.1(SET): c.699_701delCTT (p.Tyr233_Asp290del) deletion Pathogenic GRCh37 Chromosome 9, 131456084: 131456086
10 SET NM_001122821.1(SET): c.699_701delCTT (p.Tyr233_Asp290del) deletion Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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