Mental Retardation, Autosomal Dominant 46 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Mental Retardation, Autosomal Dominant 46

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 46:

Name: Mental Retardation, Autosomal Dominant 46 ⁵⁷ ⁷⁵ ⁶

Mrd46 ⁵⁷ ⁷⁵

Autosomal Dominant Mental Retardation 46 ¹²

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

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

HPO:

³²

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

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)

External Ids:

OMIM ⁵⁷ 617601

Disease Ontology ¹² DOID:0080237

MedGen ⁴² C4539851 CN371052

MeSH ⁴⁴ D008607

SNOMED-CT via HPO ⁶⁹ 228156007 247578003 91138005 more

Sources

Summaries for Mental Retardation, Autosomal Dominant 46

UniProtKB/Swiss-Prot : ⁷⁵ 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 intellectual disability and seizures

Description from OMIM: 617601

Sources

Related Diseases for Mental Retardation, Autosomal Dominant 46

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

Sources

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 46

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Mental Retardation, Autosomal Dominant 46:

³² (show all 6)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³²		HP:0001249
2	seizures ³²	very rare (1%)	HP:0001250
3	global developmental delay ³²		HP:0001263
4	absent speech ³²		HP:0001344
5	unsteady gait ³²		HP:0002317
6	epileptic encephalopathy ³²	very rare (1%)	HP:0200134

Sources

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 46

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

Sources

Genetic Tests for Mental Retardation, Autosomal Dominant 46

Sources

Anatomical Context for Mental Retardation, Autosomal Dominant 46

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

⁴¹

Skin, Bone, Eye

Sources

Publications for Mental Retardation, Autosomal Dominant 46

Sources

Genes for Mental Retardation, Autosomal Dominant 46

Genes related to Mental Retardation, Autosomal Dominant 46 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KCNQ5	Potassium Voltage-Gated Channel Subfamily Q Member 5	Protein Coding	1228.46	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ GeneCards inferred via : Disorders Variants (show sections)	28669405

Sources

Variations for Mental Retardation, Autosomal Dominant 46

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

⁷⁵

#	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

Sources

Expression for Mental Retardation, Autosomal Dominant 46

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

Sources

Pathways for Mental Retardation, Autosomal Dominant 46

Sources

GO Terms for Mental Retardation, Autosomal Dominant 46

Sources

Sources for Mental Retardation, Autosomal Dominant 46

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Mental Retardation, Autosomal Dominant 46 (MRD46)

Aliases & Classifications for Mental Retardation, Autosomal Dominant 46

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 46:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Mental Retardation, Autosomal Dominant 46

Related Diseases for Mental Retardation, Autosomal Dominant 46

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 46

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Mental Retardation, Autosomal Dominant 46:

Drugs & Therapeutics 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:

Publications for Mental Retardation, Autosomal Dominant 46

Genes for Mental Retardation, Autosomal Dominant 46

Genes related to Mental Retardation, Autosomal Dominant 46 (1 elite genes):

Variations for Mental Retardation, Autosomal Dominant 46

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

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

Expression 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