MRD60
MCID: INT361
MIFTS: 14

Intellectual Developmental Disorder 60 with Seizures (MRD60)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder 60 with Seizures

MalaCards integrated aliases for Intellectual Developmental Disorder 60 with Seizures:

Name: Intellectual Developmental Disorder 60 with Seizures 56 73 6
Mental Retardation, Autosomal Dominant 60, with Seizures 56 73
Mrd60 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
seizure onset between 1 and 4 years of age
four unrelated patients have been reported (last curated september 2019)


Classifications:



External Ids:

OMIM 56 618587
OMIM Phenotypic Series 56 PS156200
MeSH 43 D008607
MedGen 41 CN262318

Summaries for Intellectual Developmental Disorder 60 with Seizures

OMIM : 56 Autosomal dominant intellectual developmental disorder-60 with seizures is characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life. Patients have delayed walking, an ataxic gait, and moderately to severely impaired intellectual development with poor speech (summary by Helbig et al., 2019). (618587)

MalaCards based summary : Intellectual Developmental Disorder 60 with Seizures, is also known as mental retardation, autosomal dominant 60, with seizures. An important gene associated with Intellectual Developmental Disorder 60 with Seizures is AP2M1 (Adaptor Related Protein Complex 2 Subunit Mu 1).

UniProtKB/Swiss-Prot : 73 Intellectual developmental disorder 60 with seizures: An autosomal dominant disorder characterized by global developmental delay apparent in the first six months of life, followed by onset of seizures between 21 months and 4 years. Disease features include moderate-to-severe intellectual disability, poor speech, delayed walking, and ataxia.

Related Diseases for Intellectual Developmental Disorder 60 with Seizures

Symptoms & Phenotypes for Intellectual Developmental Disorder 60 with Seizures

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
ataxia
global developmental delay
poor speech
atonic seizures
more
Neurologic Behavioral Psychiatric Manifestations:
autistic features
behavioral abnormalities

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

618587

Drugs & Therapeutics for Intellectual Developmental Disorder 60 with Seizures

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder 60 with Seizures

Genetic Tests for Intellectual Developmental Disorder 60 with Seizures

Anatomical Context for Intellectual Developmental Disorder 60 with Seizures

Publications for Intellectual Developmental Disorder 60 with Seizures

Articles related to Intellectual Developmental Disorder 60 with Seizures:

# Title Authors PMID Year
1
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. 56 6
31104773 2019

Variations for Intellectual Developmental Disorder 60 with Seizures

ClinVar genetic disease variations for Intellectual Developmental Disorder 60 with Seizures:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AP2M1 NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp)SNV Pathogenic 689722 3:183898715-183898715 3:184180927-184180927

Expression for Intellectual Developmental Disorder 60 with Seizures

Search GEO for disease gene expression data for Intellectual Developmental Disorder 60 with Seizures.

Pathways for Intellectual Developmental Disorder 60 with Seizures

GO Terms for Intellectual Developmental Disorder 60 with Seizures

Sources for Intellectual Developmental Disorder 60 with Seizures

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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