MRD43
MCID: MNT280
MIFTS: 28

Mental Retardation, Autosomal Dominant 43 (MRD43)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 43

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 43:

Name: Mental Retardation, Autosomal Dominant 43 58 76 30 6
Mrd43 58 12 76
Autosomal Dominant Non-Syndromic Intellectual Disability 43 12 15
Autosomal Dominant Mental Retardation 43 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
dysmorphic features are highly variable


HPO:

33
mental retardation, autosomal dominant 43:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 43

UniProtKB/Swiss-Prot : 76 Mental retardation, autosomal dominant 43: A 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. MRD43 patients manifest developmental delay, intellectual disability, hypotonia, and dysmorphic features.

MalaCards based summary : Mental Retardation, Autosomal Dominant 43, also known as mrd43, is related to hivep2-related intellectual disability. An important gene associated with Mental Retardation, Autosomal Dominant 43 is HIVEP2 (Human Immunodeficiency Virus Type I Enhancer Binding Protein 2). Affiliated tissues include eye, skin and bone, and related phenotypes are seizures and microcephaly

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of HIVEP2 on chromosome 6q24.2.

Description from OMIM: 616977

Related Diseases for Mental Retardation, Autosomal Dominant 43

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Recessive 16 Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Dominant 10 Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 27 Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 30 Mental Retardation, Autosomal Recessive 19
Mental Retardation, Autosomal Recessive 23 Mental Retardation, Autosomal Recessive 24
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 28
Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 37 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Dominant 24
Mental Retardation, Autosomal Dominant 26 Mental Retardation, Autosomal Dominant 27
Mental Retardation, Autosomal Recessive 44 Mental Retardation, Autosomal Recessive 45
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Dominant 30
Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Dominant 32
Mental Retardation, Autosomal Recessive 48 Mental Retardation, Autosomal Recessive 49
Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Dominant 34
Mental Retardation, Autosomal Dominant 35 Mental Retardation, Autosomal Dominant 36
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Recessive 50
Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Dominant 40
Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 52
Mental Retardation, Autosomal Recessive 53 Mental Retardation, Autosomal Dominant 41
Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Dominant 43
Mental Retardation, Autosomal Recessive 54 Mental Retardation, Autosomal Recessive 55
Mental Retardation, Autosomal Dominant 44 Mental Retardation, Autosomal Recessive 56
Mental Retardation, Autosomal Recessive 57 Mental Retardation, Autosomal Recessive 58
Mental Retardation, Autosomal Recessive 59 Mental Retardation, Autosomal Recessive 60
Mental Retardation, Autosomal Dominant 45 Mental Retardation, Autosomal Dominant 46
Mental Retardation, Autosomal Dominant 47 Mental Retardation, Autosomal Dominant 48
Mental Retardation, Autosomal Dominant 49 Mental Retardation, Autosomal Recessive 61
Mental Retardation, Autosomal Dominant 50 Mental Retardation, Autosomal Dominant 51
Mental Retardation, Autosomal Dominant 52 Mental Retardation, Autosomal Dominant 53
Mental Retardation, Autosomal Dominant 54 Mental Retardation, Autosomal Dominant 56
Mental Retardation, Autosomal Dominant 57 Mental Retardation, Autosomal Recessive 63
Mental Retardation, Autosomal Recessive 64 Mental Retardation, Autosomal Dominant 58
Mental Retardation, Autosomal Recessive 65 Mental Retardation, Autosomal Recessive 66
Autosomal Dominant Mental Retardation 55

Diseases related to Mental Retardation, Autosomal Dominant 43 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hivep2-related intellectual disability 11.4

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 43

Human phenotypes related to Mental Retardation, Autosomal Dominant 43:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 microcephaly 33 occasional (7.5%) HP:0000252
3 hypoplasia of the corpus callosum 33 occasional (7.5%) HP:0002079
4 cerebral atrophy 33 occasional (7.5%) HP:0002059
5 intellectual disability 33 HP:0001249
6 constipation 33 HP:0002019
7 global developmental delay 33 HP:0001263
8 wide nasal bridge 33 HP:0000431
9 abnormal facial shape 33 HP:0001999
10 gastroesophageal reflux 33 HP:0002020
11 feeding difficulties 33 HP:0011968
12 absent speech 33 HP:0001344
13 anxiety 33 HP:0000739
14 prominent nasal bridge 33 HP:0000426
15 narrow mouth 33 HP:0000160
16 tapered finger 33 HP:0001182
17 generalized hypotonia 33 HP:0001290
18 autistic behavior 33 HP:0000729
19 hyperactivity 33 HP:0000752
20 impulsivity 33 HP:0100710

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
seizures (in some patients)
thin corpus callosum (in some patients)
poor or absent speech
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
hyperactivity
impulsivity
autism spectrum disorder

Head And Neck Mouth:
small mouth

Head And Neck Head:
microcephaly (in some patients)

Head And Neck Face:
dysmorphic facial features, variable

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
poor feeding

Muscle Soft Tissue:
hypotonia

Head And Neck Nose:
high nasal bridge
broad nasal root

Skeletal Hands:
tapering fingers

Head And Neck Eyes:
widely-spaced eyes

Clinical features from OMIM:

616977

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 43

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 43

Genetic Tests for Mental Retardation, Autosomal Dominant 43

Genetic tests related to Mental Retardation, Autosomal Dominant 43:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 43 30 HIVEP2

Anatomical Context for Mental Retardation, Autosomal Dominant 43

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 43:

42
Eye, Skin, Bone

Publications for Mental Retardation, Autosomal Dominant 43

Articles related to Mental Retardation, Autosomal Dominant 43:

# Title Authors Year
1
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features. ( 27003583 )
2016
2
Loss-of-function variants in HIVEP2 are a cause of intellectual disability. ( 26153216 )
2016
3
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. ( 23020937 )
2012

Variations for Mental Retardation, Autosomal Dominant 43

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 43:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 HIVEP2 NM_006734.3(HIVEP2): c.6475G> T (p.Gly2159Ter) single nucleotide variant Pathogenic rs761993070 GRCh37 Chromosome 6, 143080950: 143080950
2 HIVEP2 NM_006734.3(HIVEP2): c.6475G> T (p.Gly2159Ter) single nucleotide variant Pathogenic rs761993070 GRCh38 Chromosome 6, 142759813: 142759813
3 HIVEP2 NM_006734.3(HIVEP2): c.5614dupG (p.Glu1872Glyfs) duplication Pathogenic rs869312844 GRCh37 Chromosome 6, 143082607: 143082607
4 HIVEP2 NM_006734.3(HIVEP2): c.5614dupG (p.Glu1872Glyfs) duplication Pathogenic rs869312844 GRCh38 Chromosome 6, 142761470: 142761470
5 HIVEP2 NM_006734.3(HIVEP2): c.2857G> T (p.Glu953Ter) single nucleotide variant Pathogenic rs869312843 GRCh38 Chromosome 6, 142771882: 142771882
6 HIVEP2 NM_006734.3(HIVEP2): c.2857G> T (p.Glu953Ter) single nucleotide variant Pathogenic rs869312843 GRCh37 Chromosome 6, 143093019: 143093019
7 HIVEP2 NM_006734.3(HIVEP2): c.2827C> T (p.Arg943Ter) single nucleotide variant Pathogenic rs869312841 GRCh37 Chromosome 6, 143093049: 143093049
8 HIVEP2 NM_006734.3(HIVEP2): c.2827C> T (p.Arg943Ter) single nucleotide variant Pathogenic rs869312841 GRCh38 Chromosome 6, 142771912: 142771912
9 HIVEP2 NM_006734.3(HIVEP2): c.5737delG (p.Asp1913Metfs) deletion Pathogenic rs878853251 GRCh37 Chromosome 6, 143081688: 143081688
10 HIVEP2 NM_006734.3(HIVEP2): c.5737delG (p.Asp1913Metfs) deletion Pathogenic rs878853251 GRCh38 Chromosome 6, 142760551: 142760551
11 HIVEP2 NM_006734.3(HIVEP2): c.3556C> T (p.Gln1186Ter) single nucleotide variant Pathogenic rs878853269 GRCh37 Chromosome 6, 143092320: 143092320
12 HIVEP2 NM_006734.3(HIVEP2): c.3556C> T (p.Gln1186Ter) single nucleotide variant Pathogenic rs878853269 GRCh38 Chromosome 6, 142771183: 142771183
13 HIVEP2 NM_006734.4(HIVEP2): c.3461_3492dup (p.Glu1165Profs) duplication Pathogenic GRCh38 Chromosome 6, 142771248: 142771279
14 HIVEP2 NM_006734.4(HIVEP2): c.3461_3492dup (p.Glu1165Profs) duplication Pathogenic GRCh37 Chromosome 6, 143092384: 143092415

Expression for Mental Retardation, Autosomal Dominant 43

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 43.

Pathways for Mental Retardation, Autosomal Dominant 43

GO Terms for Mental Retardation, Autosomal Dominant 43

Sources for Mental Retardation, Autosomal Dominant 43

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