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MRD46
MCID: MNT278
MIFTS: 21

Mental Retardation, Autosomal Dominant 46 (MRD46)

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
Genes Variations Tissues Publications Symptoms & Phenotypes
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Aliases & Classifications for Mental Retardation, Autosomal Dominant 46

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MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 46:

Name: Mental Retardation, Autosomal Dominant 46 58 76 6
Mrd46 58 76
Autosomal Dominant Mental Retardation 46 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation
four unrelated patients have been reported (last curated august 2017)


HPO:

33
mental retardation, autosomal dominant 46:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases
Anatomical: Mental diseases Neuronal diseases Eye diseases Bone diseases Cardiovascular diseases Skin diseases Ear diseases Gastrointestinal diseases
See all MalaCards categories (disease lists)


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Summaries for Mental Retardation, Autosomal Dominant 46

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UniProtKB/Swiss-Prot : 76 Mental retardation, autosomal dominant 46: 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. MRD46 patients manifest developmental delay and mild to moderate intellectual disability.

MalaCards based summary : Mental Retardation, Autosomal Dominant 46, is also known as mrd46. An important gene associated with Mental Retardation, Autosomal Dominant 46 is KCNQ5 (Potassium Voltage-Gated Channel Subfamily Q Member 5). Affiliated tissues include skin, bone and eye, and related phenotypes are seizures and epileptic encephalopathy

Description from OMIM: 617601
Sources

Related Diseases for Mental Retardation, Autosomal Dominant 46

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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

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Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 46

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Human phenotypes related to Mental Retardation, Autosomal Dominant 46:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 epileptic encephalopathy 33 very rare (1%) HP:0200134
3 intellectual disability 33 HP:0001249
4 global developmental delay 33 HP:0001263
5 absent speech 33 HP:0001344
6 unsteady gait 33 HP:0002317

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
unsteady gait
delayed psychomotor development
seizures (in some patients)
impaired coordination
poor or absent speech
more
Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

617601
Sources

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 46

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

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Genetic Tests for Mental Retardation, Autosomal Dominant 46

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Anatomical Context for Mental Retardation, Autosomal Dominant 46

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MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 46:

42
Skin, Bone, Eye
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Publications for Mental Retardation, Autosomal Dominant 46

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Articles related to Mental Retardation, Autosomal Dominant 46:

# Title Authors Year
1
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. ( 28669405 )
2017
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Variations for Mental Retardation, Autosomal Dominant 46

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

76
# Symbol AA change Variation ID SNP ID
1 KCNQ5 p.Val145Gly VAR_079219 rs113540195
2 KCNQ5 p.Leu341Ile VAR_079220 rs113540195
3 KCNQ5 p.Pro369Arg VAR_079221 rs113540195
4 KCNQ5 p.Ser429Ile VAR_079222 rs113540195

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ5 NM_019842.3(KCNQ5): c.434T> G (p.Val145Gly) single nucleotide variant Pathogenic rs1135401955 GRCh38 Chromosome 6, 73003943: 73003943
2 KCNQ5 NM_019842.3(KCNQ5): c.434T> G (p.Val145Gly) single nucleotide variant Pathogenic rs1135401955 GRCh37 Chromosome 6, 73713666: 73713666
3 KCNQ5 NM_019842.3(KCNQ5): c.1021C> A (p.Leu341Ile) single nucleotide variant Pathogenic rs1135401956 GRCh38 Chromosome 6, 73105359: 73105359
4 KCNQ5 NM_019842.3(KCNQ5): c.1021C> A (p.Leu341Ile) single nucleotide variant Pathogenic rs1135401956 GRCh37 Chromosome 6, 73815082: 73815082
5 KCNQ5 NM_019842.3(KCNQ5): c.1286G> T (p.Ser429Ile) single nucleotide variant Pathogenic rs1135401957 GRCh37 Chromosome 6, 73843182: 73843182
6 KCNQ5 NM_019842.3(KCNQ5): c.1286G> T (p.Ser429Ile) single nucleotide variant Pathogenic rs1135401957 GRCh38 Chromosome 6, 73133459: 73133459
7 KCNQ5 NM_019842.3(KCNQ5): c.1106C> G (p.Pro369Arg) single nucleotide variant Pathogenic rs1135401958 GRCh37 Chromosome 6, 73821107: 73821107
8 KCNQ5 NM_019842.3(KCNQ5): c.1106C> G (p.Pro369Arg) single nucleotide variant Pathogenic rs1135401958 GRCh38 Chromosome 6, 73111384: 73111384
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Expression for Mental Retardation, Autosomal Dominant 46

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

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GO Terms for Mental Retardation, Autosomal Dominant 46

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Sources for Mental Retardation, Autosomal Dominant 46

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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
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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