MRD60
MCID: INT387
MIFTS: 18

Intellectual Developmental Disorder, Autosomal Dominant 60, with Seizures (MRD60)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder, Autosomal Dominant 60, with...

MalaCards integrated aliases for Intellectual Developmental Disorder, Autosomal Dominant 60, with Seizures:

Name: Intellectual Developmental Disorder, Autosomal Dominant 60, with Seizures 57
Intellectual Developmental Disorder 60 with Seizures 57 73 29 6 17
Mental Retardation, Autosomal Dominant 60, with Seizures 57 73
Mrd60 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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)


HPO:

31
intellectual developmental disorder, autosomal dominant 60, with seizures:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Intellectual Developmental Disorder, Autosomal Dominant 60, with...

OMIM® : 57 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) (Updated 05-Mar-2021)

MalaCards based summary : Intellectual Developmental Disorder, Autosomal Dominant 60, with Seizures, is also known as intellectual developmental disorder 60 with seizures. An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 60, with Seizures is AP2M1 (Adaptor Related Protein Complex 2 Subunit Mu 1). Related phenotypes are intellectual disability and tremor

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, Autosomal Dominant 60, with...

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Dominant 60, with...

Human phenotypes related to Intellectual Developmental Disorder, Autosomal Dominant 60, with Seizures:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 tremor 31 very rare (1%) HP:0001337
3 chorea 31 very rare (1%) HP:0002072
4 myoclonus 31 very rare (1%) HP:0001336
5 thin upper lip vermilion 31 very rare (1%) HP:0000219
6 gait ataxia 31 very rare (1%) HP:0002066
7 focal impaired awareness seizure 31 very rare (1%) HP:0002384
8 autistic behavior 31 very rare (1%) HP:0000729
9 abnormality of the cerebral white matter 31 very rare (1%) HP:0002500
10 generalized hypotonia 31 very rare (1%) HP:0001290
11 truncal ataxia 31 very rare (1%) HP:0002078
12 hyperplasia of the maxilla 31 very rare (1%) HP:0430028
13 atonic seizure 31 very rare (1%) HP:0010819
14 eeg with polyspike wave complexes 31 very rare (1%) HP:0002392
15 atypical absence seizure 31 very rare (1%) HP:0007270
16 bilateral tonic-clonic seizure 31 very rare (1%) HP:0002069
17 generalized myoclonic-atonic seizure 31 very rare (1%) HP:0011170
18 absence seizure with eyelid myoclonia 31 very rare (1%) HP:0011149

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
ataxia
global developmental delay
poor speech
myoclonic seizures
more
Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities
autistic features

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM®:

618587 (Updated 05-Mar-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Dominant 60, with...

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

Genetic Tests for Intellectual Developmental Disorder, Autosomal Dominant 60, with...

Genetic tests related to Intellectual Developmental Disorder, Autosomal Dominant 60, with Seizures:

# Genetic test Affiliating Genes
1 Intellectual Developmental Disorder 60 with Seizures 29 AP2M1

Anatomical Context for Intellectual Developmental Disorder, Autosomal Dominant 60, with...

Publications for Intellectual Developmental Disorder, Autosomal Dominant 60, with...

Articles related to Intellectual Developmental Disorder, Autosomal Dominant 60, with Seizures:

# Title Authors PMID Year
1
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. 6 57
31104773 2019

Variations for Intellectual Developmental Disorder, Autosomal Dominant 60, with...

ClinVar genetic disease variations for Intellectual Developmental Disorder, Autosomal Dominant 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 Likely pathogenic 689722 rs1577059692 3:183898715-183898715 3:184180927-184180927

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder, Autosomal Dominant 60, with Seizures:

73
# Symbol AA change Variation ID SNP ID
1 AP2M1 p.Arg170Trp VAR_082954

Expression for Intellectual Developmental Disorder, Autosomal Dominant 60, with...

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

Pathways for Intellectual Developmental Disorder, Autosomal Dominant 60, with...

GO Terms for Intellectual Developmental Disorder, Autosomal Dominant 60, with...

Sources for Intellectual Developmental Disorder, Autosomal Dominant 60, with...

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....