MRD43
MCID: MNT280
MIFTS: 25

Mental Retardation, Autosomal Dominant 43 (MRD43)

Categories: 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 56 73 29 6
Mrd43 56 12 73
Autosomal Dominant Non-Syndromic Intellectual Disability 43 12 15
Autosomal Dominant Mental Retardation 43 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
mental retardation, autosomal dominant 43:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 43

UniProtKB/Swiss-Prot : 73 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 (HIVEP Zinc Finger 2). Affiliated tissues include eye, and related phenotypes are microcephaly and hypoplasia of the corpus callosum

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.

More information from OMIM: 616977 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 43

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Recessive 14 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 26
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 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 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 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:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 hivep2-related intellectual disability 11.5

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 43

Human phenotypes related to Mental Retardation, Autosomal Dominant 43:

31 (showing 20, show less)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 occasional (7.5%) HP:0000252
2 hypoplasia of the corpus callosum 31 occasional (7.5%) HP:0002079
3 cerebral atrophy 31 occasional (7.5%) HP:0002059
4 seizure 31 occasional (7.5%) HP:0001250
5 intellectual disability 31 HP:0001249
6 global developmental delay 31 HP:0001263
7 wide nasal bridge 31 HP:0000431
8 abnormal facial shape 31 HP:0001999
9 gastroesophageal reflux 31 HP:0002020
10 feeding difficulties 31 HP:0011968
11 absent speech 31 HP:0001344
12 narrow mouth 31 HP:0000160
13 anxiety 31 HP:0000739
14 constipation 31 HP:0002019
15 prominent nasal bridge 31 HP:0000426
16 tapered finger 31 HP:0001182
17 autistic behavior 31 HP:0000729
18 hyperactivity 31 HP:0000752
19 generalized hypotonia 31 HP:0001290
20 impulsivity 31 HP:0100710

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
seizures (in some patients)
delayed psychomotor development
cerebral atrophy (in some patients)
thin corpus callosum (in some patients)
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:
gastroesophageal reflux
constipation
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 29 HIVEP2

Anatomical Context for Mental Retardation, Autosomal Dominant 43

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

40
Eye

Publications for Mental Retardation, Autosomal Dominant 43

Articles related to Mental Retardation, Autosomal Dominant 43:

(showing 4, show less)
# Title Authors PMID Year
1
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features. 56 6
27003583 2016
2
Loss-of-function variants in HIVEP2 are a cause of intellectual disability. 56 6
26153216 2016
3
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 6 56
23020937 2012
4
Schnurri-2 mutant mice are hypersensitive to stress and hyperactive. 56
16836985 2006

Variations for Mental Retardation, Autosomal Dominant 43

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

6 (showing 7, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HIVEP2 NM_006734.4(HIVEP2):c.3461_3492dup (p.Glu1165fs)duplication Pathogenic 620051 rs1562505675 6:143092383-143092384 6:142771246-142771247
2 HIVEP2 NM_006734.4(HIVEP2):c.6475G>T (p.Gly2159Ter)SNV Pathogenic 224793 rs761993070 6:143080950-143080950 6:142759813-142759813
3 HIVEP2 NM_006734.4(HIVEP2):c.5614dup (p.Glu1872fs)duplication Pathogenic 224795 rs869312844 6:143082606-143082607 6:142761469-142761470
4 HIVEP2 NM_006734.4(HIVEP2):c.2857G>T (p.Glu953Ter)SNV Pathogenic 224794 rs869312843 6:143093019-143093019 6:142771882-142771882
5 HIVEP2 NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter)SNV Pathogenic 224791 rs869312841 6:143093049-143093049 6:142771912-142771912
6 HIVEP2 NM_006734.4(HIVEP2):c.5737del (p.Asp1913fs)deletion Pathogenic 236210 rs878853251 6:143081688-143081688 6:142760551-142760551
7 HIVEP2 NM_006734.4(HIVEP2):c.3556C>T (p.Gln1186Ter)SNV Pathogenic 236212 rs878853269 6:143092320-143092320 6:142771183-142771183

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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68 SNOMED-CT via HPO
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