MRD62
MCID: INT375
MIFTS: 20

Intellectual Developmental Disorder 62 (MRD62)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder 62

MalaCards integrated aliases for Intellectual Developmental Disorder 62:

Name: Intellectual Developmental Disorder 62 56 73 6
Mental Retardation, Autosomal Dominant 62 56 73
Mrd62 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
intellectual developmental disorder 62:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Intellectual Developmental Disorder 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 62, is also known as mental retardation, autosomal dominant 62. An important gene associated with Intellectual Developmental Disorder 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 62

Symptoms & Phenotypes for Intellectual Developmental Disorder 62

Human phenotypes related to Intellectual Developmental Disorder 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:

56
Skeletal Spine:
scoliosis

Head And Neck Eyes:
nystagmus
strabismus
impaired vision

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

Abdomen External Features:
umbilical hernia

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

Drugs & Therapeutics for Intellectual Developmental Disorder 62

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

Genetic Tests for Intellectual Developmental Disorder 62

Anatomical Context for Intellectual Developmental Disorder 62

Publications for Intellectual Developmental Disorder 62

Articles related to Intellectual Developmental Disorder 62:

# Title Authors PMID Year
1
Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features. 6 56
29460436 2018
2
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. 6 56
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. 56
20952458 2010

Variations for Intellectual Developmental Disorder 62

ClinVar genetic disease variations for Intellectual Developmental Disorder 62:

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

Expression for Intellectual Developmental Disorder 62

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

Pathways for Intellectual Developmental Disorder 62

GO Terms for Intellectual Developmental Disorder 62

Sources for Intellectual Developmental Disorder 62

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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