Intellectual Developmental Disorder, Autosomal Dominant 62 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Intellectual Developmental Disorder, Autosomal Dominant 62

MalaCards integrated aliases for Intellectual Developmental Disorder, Autosomal Dominant 62:

Name: Intellectual Developmental Disorder, Autosomal Dominant 62 ⁵⁷

Intellectual Developmental Disorder 62 ⁵⁷ ⁷³ ²⁹ ⁶

Mental Retardation, Autosomal Dominant 62 ⁵⁷ ⁷³

Mrd62 ⁵⁷ ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
variable severity
de novo mutation
older patients may show a marfanoid habitus

HPO:

³¹

intellectual developmental disorder, autosomal dominant 62:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Mental diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618793

OMIM Phenotypic Series ⁵⁷ PS156200

MeSH ⁴⁴ D008607

MedGen ⁴¹ C5394083 CN263332

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Summaries for Intellectual Developmental Disorder, Autosomal Dominant 62

UniProtKB/Swiss-Prot : ⁷³ Intellectual developmental disorder 62: An autosomal dominant 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. MRD62 is characterized by mild to moderately impaired intellectual development.

MalaCards based summary : Intellectual Developmental Disorder, Autosomal Dominant 62, is also known as intellectual developmental disorder 62. An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 62 is DLG4 (Discs Large MAGUK Scaffold Protein 4). Related phenotypes are intellectual disability and scoliosis

More information from OMIM: 618793 PS156200

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Related Diseases for Intellectual Developmental Disorder, Autosomal Dominant 62

Diseases in the Intellectual Developmental Disorder, Autosomal Dominant 61 family:

Intellectual Developmental Disorder, Autosomal Recessive 67	Intellectual Developmental Disorder, Autosomal Recessive 68
Intellectual Developmental Disorder, Autosomal Recessive 69	Intellectual Developmental Disorder, Autosomal Recessive 70
Intellectual Developmental Disorder, Autosomal Recessive 71	Intellectual Developmental Disorder, Autosomal Dominant 59
Intellectual Developmental Disorder, Autosomal Recessive 72	Intellectual Developmental Disorder, Autosomal Dominant 62
Intellectual Developmental Disorder, Autosomal Dominant 64

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Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Dominant 62

Human phenotypes related to Intellectual Developmental Disorder, Autosomal Dominant 62:

³¹ (show all 12)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³¹	very rare (1%)	HP:0001249
2	scoliosis ³¹	very rare (1%)	HP:0002650
3	pes planus ³¹	very rare (1%)	HP:0001763
4	strabismus ³¹	very rare (1%)	HP:0000486
5	joint laxity ³¹	very rare (1%)	HP:0001388
6	striae distensae ³¹	very rare (1%)	HP:0001065
7	disproportionate tall stature ³¹	very rare (1%)	HP:0001519
8	autistic behavior ³¹	very rare (1%)	HP:0000729
9	cerebellar vermis atrophy ³¹	very rare (1%)	HP:0006855
10	increased arm span ³¹	very rare (1%)	HP:0012771
11	seizure ³¹	very rare (1%)	HP:0001250
12	arachnodactyly ³¹		HP:0001166

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Skeletal Spine:
scoliosis

Abdomen External Features:
umbilical hernia

Neurologic Central Nervous System:
clumsiness
cerebellar vermis atrophy
language delay
impaired intellectual development
seizures (1 patient)
more

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Skeletal Feet:
foot deformities

Chest External Features:
pectus anomalies

Head And Neck Eyes:
nystagmus
strabismus
impaired vision

Head And Neck Face:
long face
dysmorphic features

Head And Neck Mouth:
high-arched palate

Skeletal:
joint hyperlaxity

Growth Height:
tall stature (in some patients)

Skeletal Hands:
long thin fingers

Clinical features from OMIM®:

618793 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Dominant 62

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, Autosomal Dominant 62

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Genetic Tests for Intellectual Developmental Disorder, Autosomal Dominant 62

Genetic tests related to Intellectual Developmental Disorder, Autosomal Dominant 62:

#	Genetic test	Affiliating Genes
1	Intellectual Developmental Disorder 62 ²⁹	DLG4

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Anatomical Context for Intellectual Developmental Disorder, Autosomal Dominant 62

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Publications for Intellectual Developmental Disorder, Autosomal Dominant 62

Articles related to Intellectual Developmental Disorder, Autosomal Dominant 62:

#	Title	Authors	PMID	Year
1	Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features. ⁵⁷ ⁶	Moutton S...Faivre L	29460436	2018
2	Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. ⁵⁷ ⁶	Lelieveld SH...Gilissen C	27479843	2016
3	Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome. ⁵⁷	Feyder M...Holmes A	20952458	2010

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Genes for Intellectual Developmental Disorder, Autosomal Dominant 62

Genes related to Intellectual Developmental Disorder, Autosomal Dominant 62 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	DLG4	Discs Large MAGUK Scaffold Protein 4	Protein Coding	1025	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶	29460436 27479843

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Variations for Intellectual Developmental Disorder, Autosomal Dominant 62

ClinVar genetic disease variations for Intellectual Developmental Disorder, Autosomal Dominant 62:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	DLG4	NM_001321075.3(DLG4):c.148dup (p.Tyr50fs)	Duplication	Pathogenic	224807	rs869312859	17:7107519-7107520	17:7204200-7204201
2	DLG4	NM_001321075.3(DLG4):c.1102C>T (p.Arg368Ter)	SNV	Pathogenic	813880	rs1597452702	17:7099876-7099876	17:7196557-7196557
3	DLG4	NM_001321075.3(DLG4):c.925C>T (p.Arg309Ter)	SNV	Pathogenic	813881	rs1182894684	17:7100234-7100234	17:7196915-7196915
4	DLG4	NM_001365.4(DLG4):c.1843del (p.Glu615fs)	Deletion	Pathogenic	689717	rs1597442444	17:7096416-7096416	17:7193097-7193097
5	DLG4	NM_001365.4(DLG4):c.1147_1154del (p.Phe383fs)	Deletion	Pathogenic	689718	rs1597453595	17:7100134-7100141	17:7196815-7196822
6	DLG4	NM_001365.4(DLG4):c.1672+2T>C	SNV	Pathogenic	689720	rs1597444614	17:7097161-7097161	17:7193842-7193842
7	DLG4	NM_001321075.3(DLG4):c.210+2del	Deletion	Likely pathogenic	988741		17:7107325-7107325	17:7204006-7204006

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Expression for Intellectual Developmental Disorder, Autosomal Dominant 62

Search GEO for disease gene expression data for Intellectual Developmental Disorder, Autosomal Dominant 62.

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Pathways for Intellectual Developmental Disorder, Autosomal Dominant 62

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GO Terms for Intellectual Developmental Disorder, Autosomal Dominant 62

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Sources for Intellectual Developmental Disorder, Autosomal Dominant 62

¹ BioSystems

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³⁷ LifeMap

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⁴⁰ MalaCards

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⁴⁴ MeSH

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⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

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⁶⁷ SNOMED-CT

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Intellectual Developmental Disorder, Autosomal Dominant 62 (MRD62)

Aliases & Classifications for Intellectual Developmental Disorder, Autosomal Dominant 62

MalaCards integrated aliases for Intellectual Developmental Disorder, Autosomal Dominant 62:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Intellectual Developmental Disorder, Autosomal Dominant 62

Related Diseases for Intellectual Developmental Disorder, Autosomal Dominant 62

Diseases in the Intellectual Developmental Disorder, Autosomal Dominant 61 family:

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Dominant 62

Human phenotypes related to Intellectual Developmental Disorder, Autosomal Dominant 62:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Dominant 62

Genetic Tests for Intellectual Developmental Disorder, Autosomal Dominant 62

Genetic tests related to Intellectual Developmental Disorder, Autosomal Dominant 62:

Anatomical Context for Intellectual Developmental Disorder, Autosomal Dominant 62

Publications for Intellectual Developmental Disorder, Autosomal Dominant 62

Articles related to Intellectual Developmental Disorder, Autosomal Dominant 62:

Genes for Intellectual Developmental Disorder, Autosomal Dominant 62

Genes related to Intellectual Developmental Disorder, Autosomal Dominant 62 (1 elite genes):

Variations for Intellectual Developmental Disorder, Autosomal Dominant 62

ClinVar genetic disease variations for Intellectual Developmental Disorder, Autosomal Dominant 62:

Expression for Intellectual Developmental Disorder, Autosomal Dominant 62

Pathways for Intellectual Developmental Disorder, Autosomal Dominant 62

GO Terms for Intellectual Developmental Disorder, Autosomal Dominant 62

Sources for Intellectual Developmental Disorder, Autosomal Dominant 62