MRD61
MCID: INT367
MIFTS: 12

Intellectual Developmental Disorder 61 (MRD61)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder 61

MalaCards integrated aliases for Intellectual Developmental Disorder 61:

Name: Intellectual Developmental Disorder 61 56 6
Mental Retardation, Autosomal Dominant 61 56
Mrd61 56

Classifications:



External Ids:

OMIM 56 618009
OMIM Phenotypic Series 56 PS156200

Summaries for Intellectual Developmental Disorder 61

OMIM : 56 Intellectual developmental disorder-61 (MRD61) is characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD). Most affected individuals learn to walk on time or with some mild delay. Additional features are highly variable and may include nonspecific dysmorphic features, obstipation, ocular anomalies, and poor overall growth (Snijders Blok et al., 2018). (618009)

MalaCards based summary : Intellectual Developmental Disorder 61, is also known as mental retardation, autosomal dominant 61. An important gene associated with Intellectual Developmental Disorder 61 is MED13 (Mediator Complex Subunit 13).

Related Diseases for Intellectual Developmental Disorder 61

Symptoms & Phenotypes for Intellectual Developmental Disorder 61

Clinical features from OMIM:

618009

Drugs & Therapeutics for Intellectual Developmental Disorder 61

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder 61

Genetic Tests for Intellectual Developmental Disorder 61

Anatomical Context for Intellectual Developmental Disorder 61

Publications for Intellectual Developmental Disorder 61

Articles related to Intellectual Developmental Disorder 61:

# Title Authors PMID Year
1
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. 56 6
29740699 2018

Variations for Intellectual Developmental Disorder 61

ClinVar genetic disease variations for Intellectual Developmental Disorder 61:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MED13 NM_005112.2:c.392T>GSNV Pathogenic 810680
2 MED13 NM_005121.3(MED13):c.977C>T (p.Thr326Ile)SNV Pathogenic 810681 17:60108837-60108837 17:62031476-62031476
3 MED13 MED13, LEU582TERSNV Pathogenic 810682
4 NM_005112.2:c.4198C>TSNV Pathogenic 810683 4:10074197-10074197 4:10072573-10072573
5 MED13 NM_005112.2:c.4487delCdeletion Pathogenic 810684

Expression for Intellectual Developmental Disorder 61

Search GEO for disease gene expression data for Intellectual Developmental Disorder 61.

Pathways for Intellectual Developmental Disorder 61

GO Terms for Intellectual Developmental Disorder 61

Sources for Intellectual Developmental Disorder 61

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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