MRD46
MCID: MNT278
MIFTS: 22

Mental Retardation, Autosomal Dominant 46 (MRD46)

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 46

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 46:

Name: Mental Retardation, Autosomal Dominant 46 57 72 6
Mrd46 57 72
Mental Retardation, Autosomal Dominant, Type 46 39
Autosomal Dominant Mental Retardation 46 12

Characteristics:

OMIM®:

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

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


HPO:

31
mental retardation, autosomal dominant 46:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0080237
OMIM® 57 617601
OMIM Phenotypic Series 57 PS156200
MeSH 44 D008607

Summaries for Mental Retardation, Autosomal Dominant 46

UniProtKB/Swiss-Prot : 72 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 eye, and related phenotypes are epileptic encephalopathy and seizure

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in heterozygous mutation in the KCNQ5 gene on chromosome 6q14.

More information from OMIM: 617601 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 46

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 46

Human phenotypes related to Mental Retardation, Autosomal Dominant 46:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 epileptic encephalopathy 31 very rare (1%) HP:0200134
2 seizure 31 very rare (1%) HP:0001250
3 intellectual disability 31 HP:0001249
4 global developmental delay 31 HP:0001263
5 absent speech 31 HP:0001344
6 generalized hypotonia 31 HP:0001290
7 unsteady gait 31 HP:0002317

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
unsteady gait
seizures (in some patients)
delayed psychomotor development
impaired coordination
poor or absent speech
more
Muscle Soft Tissue:
hypotonia

Clinical features from OMIM®:

617601 (Updated 20-May-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 46

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

Genetic Tests for Mental Retardation, Autosomal Dominant 46

Anatomical Context for Mental Retardation, Autosomal Dominant 46

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

40
Eye

Publications for Mental Retardation, Autosomal Dominant 46

Articles related to Mental Retardation, Autosomal Dominant 46:

# Title Authors PMID Year
1
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. 6 57
28669405 2017
2
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015

Variations for Mental Retardation, Autosomal Dominant 46

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

6 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNQ5 NM_019842.3(KCNQ5):c.1021C>A (p.Leu341Ile) SNV Pathogenic 431386 rs1135401956 GRCh37: 6:73815082-73815082
GRCh38: 6:73105359-73105359
2 KCNQ5 NM_001160134.1(KCNQ5):c.1247+8947G>T SNV Pathogenic 431387 rs1135401957 GRCh37: 6:73843182-73843182
GRCh38: 6:73133459-73133459
3 KCNQ5 NM_019842.3(KCNQ5):c.434T>G (p.Val145Gly) SNV Pathogenic 431385 rs1135401955 GRCh37: 6:73713666-73713666
GRCh38: 6:73003943-73003943
4 KCNQ5 NM_019842.3(KCNQ5):c.1106C>G (p.Pro369Arg) SNV Pathogenic 431388 rs1135401958 GRCh37: 6:73821107-73821107
GRCh38: 6:73111384-73111384
5 KCNQ5 NM_019842.4(KCNQ5):c.1106C>A (p.Pro369Gln) SNV Pathogenic 802242 rs1135401958 GRCh37: 6:73821107-73821107
GRCh38: 6:73111384-73111384
6 KCNQ5 NM_019842.4(KCNQ5):c.1291A>T (p.Arg431Trp) SNV Likely pathogenic 984630 GRCh37: 6:73843187-73843187
GRCh38: 6:73133464-73133464
7 KCNQ5 NM_019842.4(KCNQ5):c.875A>G (p.Asn292Ser) SNV Likely pathogenic 988749 GRCh37: 6:73787567-73787567
GRCh38: 6:73077844-73077844
8 KCNQ5 NM_019842.4(KCNQ5):c.1040G>C (p.Gly347Ala) SNV Likely pathogenic 975567 GRCh37: 6:73821041-73821041
GRCh38: 6:73111318-73111318
9 KCNQ5 NM_001160133.1(KCNQ5):c.532C>T (p.Arg178Ter) SNV Likely pathogenic 523807 rs1554201137 GRCh37: 6:73751701-73751701
GRCh38: 6:73041978-73041978
10 KCNQ5 NM_019842.4(KCNQ5):c.2228del (p.Ala743fs) Deletion Uncertain significance 1064571 GRCh37: 6:73904566-73904566
GRCh38: 6:73194843-73194843
11 KCNQ5 NM_019842.4(KCNQ5):c.1106C>T (p.Pro369Leu) SNV Uncertain significance 976198 GRCh37: 6:73821107-73821107
GRCh38: 6:73111384-73111384
12 KCNQ5 NM_019842.4(KCNQ5):c.1312C>T (p.Arg438Ter) SNV Uncertain significance 979190 GRCh37: 6:73843208-73843208
GRCh38: 6:73133485-73133485
13 KCNQ5 NM_019842.4(KCNQ5):c.253G>C (p.Ala85Pro) SNV Uncertain significance 998291 GRCh37: 6:73332170-73332170
GRCh38: 6:72622442-72622442
14 KCNQ5 NM_019842.4(KCNQ5):c.2788A>C (p.Lys930Gln) SNV Uncertain significance 1027752 GRCh37: 6:73905126-73905126
GRCh38: 6:73195403-73195403
15 KCNQ5 NM_019842.4(KCNQ5):c.1575C>A (p.Ile525=) SNV Uncertain significance 1033745 GRCh37: 6:73879575-73879575
GRCh38: 6:73169852-73169852
16 KCNQ5 NM_019842.4(KCNQ5):c.522G>C (p.Glu174Asp) SNV Uncertain significance 931402 GRCh37: 6:73751691-73751691
GRCh38: 6:73041968-73041968
17 KCNQ5 NM_019842.4(KCNQ5):c.2478G>C (p.Leu826Phe) SNV Uncertain significance 931884 GRCh37: 6:73904816-73904816
GRCh38: 6:73195093-73195093
18 KCNQ5 NM_019842.4(KCNQ5):c.49T>C (p.Trp17Arg) SNV Uncertain significance 932094 GRCh37: 6:73331966-73331966
GRCh38: 6:72622238-72622238
19 KCNQ5 NM_001160133.1(KCNQ5):c.1558G>A (p.Asp520Asn) SNV Uncertain significance 638520 rs1582480404 GRCh37: 6:73879501-73879501
GRCh38: 6:73169778-73169778

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

72
# 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

Expression for Mental Retardation, Autosomal Dominant 46

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

Pathways for Mental Retardation, Autosomal Dominant 46

GO Terms for Mental Retardation, Autosomal Dominant 46

Sources for Mental Retardation, Autosomal Dominant 46

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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