MRD64
MCID: INT393
MIFTS: 17

Intellectual Developmental Disorder, Autosomal Dominant 64 (MRD64)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder, Autosomal Dominant 64

MalaCards integrated aliases for Intellectual Developmental Disorder, Autosomal Dominant 64:

Name: Intellectual Developmental Disorder, Autosomal Dominant 64 57
Autosomal Dominant Intellectual Developmental Disorder 64 6
Mental Retardation, Autosomal Dominant 64 57
Mrd64 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation (in most patients)
dysmorphic features are variably present


Classifications:



External Ids:

OMIM® 57 619188
OMIM Phenotypic Series 57 PS156200

Summaries for Intellectual Developmental Disorder, Autosomal Dominant 64

OMIM® : 57 Autosomal dominant intellectual developmental disorder-64 (MRD64) is characterized by mildly to severely impaired intellectual development (ID) with speech delays. Most patients also have autism spectrum disorder (ASD). Additional features are highly variable but may include motor delay, attention deficit-hyperactivity disorder (ADHD), and nonspecific dysmorphic features (summary by Mirzaa et al., 2020). (619188) (Updated 05-Apr-2021)

MalaCards based summary : Intellectual Developmental Disorder, Autosomal Dominant 64, is also known as autosomal dominant intellectual developmental disorder 64. An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 64 is ZNF292 (Zinc Finger Protein 292). Affiliated tissues include brain.

Related Diseases for Intellectual Developmental Disorder, Autosomal Dominant 64

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Dominant 64

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Gastrointestinal:
constipation
feeding difficulties
obstipation

Neurologic Central Nervous System:
hypertonia
hypotonia
speech delay
seizures (uncommon)
impaired intellectual development, mild to severe
more
Head And Neck Face:
micrognathia
broad forehead
high forehead
dysmorphic facial features (variable non-specific)

Head And Neck Nose:
broad nose

Head And Neck Eyes:
hypertelorism

Neurologic Behavioral Psychiatric Manifestations:
autism
adhd

Head And Neck Ears:
low-set ears

Growth Other:
growth failure (in some patients)

Clinical features from OMIM®:

619188 (Updated 05-Apr-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Dominant 64

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, Autosomal Dominant 64

Genetic Tests for Intellectual Developmental Disorder, Autosomal Dominant 64

Anatomical Context for Intellectual Developmental Disorder, Autosomal Dominant 64

MalaCards organs/tissues related to Intellectual Developmental Disorder, Autosomal Dominant 64:

40
Brain

Publications for Intellectual Developmental Disorder, Autosomal Dominant 64

Articles related to Intellectual Developmental Disorder, Autosomal Dominant 64:

(showing 4, show less)
# Title Authors PMID Year
1
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. 57 6
31723249 2020
2
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model. 6
30564305 2018
3
De novo genic mutations among a Chinese autism spectrum disorder cohort. 6
27824329 2016
4
Synaptic, transcriptional and chromatin genes disrupted in autism. 6
25363760 2014

Variations for Intellectual Developmental Disorder, Autosomal Dominant 64

ClinVar genetic disease variations for Intellectual Developmental Disorder, Autosomal Dominant 64:

6 (showing 7, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZNF292 NM_015021.3(ZNF292):c.265C>T (p.Arg89Ter) SNV Pathogenic 981386 GRCh37: 6:87925717-87925717
GRCh38: 6:87215999-87215999
2 ZNF292 NM_015021.3(ZNF292):c.2490_2494dup (p.Ser832fs) Duplication Pathogenic 982158 GRCh37: 6:87965835-87965836
GRCh38: 6:87256117-87256118
3 ZNF292 NM_015021.3(ZNF292):c.4417dup (p.Ser1473fs) Duplication Pathogenic 982164 GRCh37: 6:87967763-87967764
GRCh38: 6:87258045-87258046
4 ZNF292 NM_015021.3(ZNF292):c.3066_3069del (p.Glu1022fs) Deletion Pathogenic 431106 rs1135401779 GRCh37: 6:87966410-87966413
GRCh38: 6:87256692-87256695
5 ZNF292 NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs) Deletion Pathogenic 981392 GRCh37: 6:87969506-87969507
GRCh38: 6:87259788-87259789
6 ZNF292 NM_015021.3(ZNF292):c.3724del (p.Gln1242fs) Deletion Pathogenic 982162 GRCh37: 6:87967071-87967071
GRCh38: 6:87257353-87257353
7 ZNF292 NM_015021.3(ZNF292):c.1360C>T (p.Arg454Ter) SNV Pathogenic 982155 GRCh37: 6:87964707-87964707
GRCh38: 6:87254989-87254989

Expression for Intellectual Developmental Disorder, Autosomal Dominant 64

Search GEO for disease gene expression data for Intellectual Developmental Disorder, Autosomal Dominant 64.

Pathways for Intellectual Developmental Disorder, Autosomal Dominant 64

GO Terms for Intellectual Developmental Disorder, Autosomal Dominant 64

Sources for Intellectual Developmental Disorder, Autosomal Dominant 64

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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