MRD62
MCID: INT388
MIFTS: 21

Intellectual Developmental Disorder, Autosomal Dominant 62 (MRD62)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

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 72 29 6
Mental Retardation, Autosomal Dominant 62 57 72
Mrd62 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-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:



Summaries for Intellectual Developmental Disorder, Autosomal Dominant 62

UniProtKB/Swiss-Prot : 72 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

Related Diseases for Intellectual Developmental Disorder, Autosomal Dominant 62

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Dominant 62

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

31 (showing 12, show less)
# 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-Apr-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-Apr-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Dominant 62

Search Clinical Trials , NIH Clinical Center 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:

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

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:

(showing 3, show less)
# Title Authors PMID Year
1
Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features. 57 6
29460436 2018
2
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. 6 57
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
20952458 2010

Variations for Intellectual Developmental Disorder, Autosomal Dominant 62

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

6 (showing 8, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DLG4 NM_001321075.3(DLG4):c.148dup (p.Tyr50fs) Duplication Pathogenic 224807 rs869312859 GRCh37: 17:7107519-7107520
GRCh38: 17:7204200-7204201
2 DLG4 NM_001321075.3(DLG4):c.1102C>T (p.Arg368Ter) SNV Pathogenic 813880 rs1597452702 GRCh37: 17:7099876-7099876
GRCh38: 17:7196557-7196557
3 DLG4 NM_001321075.3(DLG4):c.925C>T (p.Arg309Ter) SNV Pathogenic 813881 rs1182894684 GRCh37: 17:7100234-7100234
GRCh38: 17:7196915-7196915
4 DLG4 NM_001365.4(DLG4):c.1843del (p.Glu615fs) Deletion Pathogenic 689717 rs1597442444 GRCh37: 17:7096416-7096416
GRCh38: 17:7193097-7193097
5 DLG4 NM_001365.4(DLG4):c.1147_1154del (p.Phe383fs) Deletion Pathogenic 689718 rs1597453595 GRCh37: 17:7100134-7100141
GRCh38: 17:7196815-7196822
6 DLG4 NM_001365.4(DLG4):c.1672+2T>C SNV Pathogenic 689720 rs1597444614 GRCh37: 17:7097161-7097161
GRCh38: 17:7193842-7193842
7 DLG4 NM_001321075.3(DLG4):c.210+2del Deletion Likely pathogenic 988741 GRCh37: 17:7107325-7107325
GRCh38: 17:7204006-7204006
8 DLG4 NM_001321075.3(DLG4):c.1711C>T (p.Arg571Trp) SNV Uncertain significance 996974 GRCh37: 17:7096419-7096419
GRCh38: 17:7193100-7193100

Expression for Intellectual Developmental Disorder, Autosomal Dominant 62

Search GEO for disease gene expression data 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

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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