MRD43
MCID: MNT280
MIFTS: 26

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 43

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 43:

Name: Mental Retardation, Autosomal Dominant 43 57 72 29 6
Mrd43 57 12 72
Autosomal Dominant Non-Syndromic Intellectual Disability 43 12 15
Autosomal Dominant Mental Retardation 43 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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 : 72 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). 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 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 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 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 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:

# 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:

31 (show all 20)
# 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 constipation 31 HP:0002019
7 global developmental delay 31 HP:0001263
8 wide nasal bridge 31 HP:0000431
9 abnormal facial shape 31 HP:0001999
10 gastroesophageal reflux 31 HP:0002020
11 absent speech 31 HP:0001344
12 anxiety 31 HP:0000739
13 narrow mouth 31 HP:0000160
14 prominent nasal bridge 31 HP:0000426
15 tapered finger 31 HP:0001182
16 feeding difficulties 31 HP:0011968
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®:

57 (Updated 05-Apr-2021)
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:
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 (Updated 05-Apr-2021)

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

Publications for Mental Retardation, Autosomal Dominant 43

Articles related to Mental Retardation, Autosomal Dominant 43:

# Title Authors PMID Year
1
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features. 57 6
27003583 2016
2
Loss-of-function variants in HIVEP2 are a cause of intellectual disability. 6 57
26153216 2016
3
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 6 57
23020937 2012
4
Schnurri-2 mutant mice are hypersensitive to stress and hyperactive. 57
16836985 2006

Variations for Mental Retardation, Autosomal Dominant 43

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

6 (show all 36)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HIVEP2 NM_006734.4(HIVEP2):c.5737del (p.Asp1913fs) Deletion Pathogenic 236210 rs878853251 GRCh37: 6:143081688-143081688
GRCh38: 6:142760551-142760551
2 HIVEP2 NM_006734.4(HIVEP2):c.6475G>T (p.Gly2159Ter) SNV Pathogenic 224793 rs761993070 GRCh37: 6:143080950-143080950
GRCh38: 6:142759813-142759813
3 HIVEP2 NM_006734.4(HIVEP2):c.2857G>T (p.Glu953Ter) SNV Pathogenic 224794 rs869312843 GRCh37: 6:143093019-143093019
GRCh38: 6:142771882-142771882
4 HIVEP2 NM_006734.4(HIVEP2):c.5614dup (p.Glu1872fs) Duplication Pathogenic 224795 rs869312844 GRCh37: 6:143082606-143082607
GRCh38: 6:142761469-142761470
5 HIVEP2 NM_006734.4(HIVEP2):c.3556C>T (p.Gln1186Ter) SNV Pathogenic 236212 rs878853269 GRCh37: 6:143092320-143092320
GRCh38: 6:142771183-142771183
6 HIVEP2 NM_006734.4(HIVEP2):c.3461_3492dup (p.Glu1165fs) Duplication Pathogenic 620051 rs1562505675 GRCh37: 6:143092383-143092384
GRCh38: 6:142771246-142771247
7 HIVEP2 NM_006734.4(HIVEP2):c.5686C>T (p.Gln1896Ter) SNV Pathogenic 984807 GRCh37: 6:143081739-143081739
GRCh38: 6:142760602-142760602
8 HIVEP2 NM_006734.4(HIVEP2):c.5900del (p.Ser1967fs) Deletion Pathogenic 422837 rs1064796034 GRCh37: 6:143081525-143081525
GRCh38: 6:142760388-142760388
9 HIVEP2 NM_006734.4(HIVEP2):c.3742C>T (p.Gln1248Ter) SNV Pathogenic 620259 rs1562505335 GRCh37: 6:143092134-143092134
GRCh38: 6:142770997-142770997
10 HIVEP2 NM_006734.4(HIVEP2):c.6667C>T (p.Arg2223Ter) SNV Pathogenic 620226 rs1562493608 GRCh37: 6:143074918-143074918
GRCh38: 6:142753781-142753781
11 HIVEP2 NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter) SNV Pathogenic 224791 rs869312841 GRCh37: 6:143093049-143093049
GRCh38: 6:142771912-142771912
12 HIVEP2 NM_006734.4(HIVEP2):c.2905C>T (p.Gln969Ter) SNV Pathogenic 224792 rs869312842 GRCh37: 6:143092971-143092971
GRCh38: 6:142771834-142771834
13 HIVEP2 NM_006734.4(HIVEP2):c.5620+1GT[2] Microsatellite Likely pathogenic 984760 GRCh37: 6:143082595-143082596
GRCh38: 6:142761458-142761459
14 HIVEP2 NM_006734.4(HIVEP2):c.1189G>T (p.Asp397Tyr) SNV Likely pathogenic 224798 rs869312847 GRCh37: 6:143094687-143094687
GRCh38: 6:142773550-142773550
15 HIVEP2 NM_006734.4(HIVEP2):c.6964C>T (p.Gln2322Ter) SNV Likely pathogenic 520986 rs1554274371 GRCh37: 6:143074621-143074621
GRCh38: 6:142753484-142753484
16 HIVEP2 NM_006734.4(HIVEP2):c.5935C>T (p.Arg1979Ter) SNV Likely pathogenic 523775 rs1554275163 GRCh37: 6:143081490-143081490
GRCh38: 6:142760353-142760353
17 HIVEP2 NM_006734.4(HIVEP2):c.6698G>A (p.Gly2233Glu) SNV Uncertain significance 984854 GRCh37: 6:143074887-143074887
GRCh38: 6:142753750-142753750
18 HIVEP2 NM_006734.4(HIVEP2):c.4144G>A (p.Ala1382Thr) SNV Uncertain significance 984855 GRCh37: 6:143091732-143091732
GRCh38: 6:142770595-142770595
19 HIVEP2 NM_006734.4(HIVEP2):c.1505C>G (p.Ser502Cys) SNV Uncertain significance 930591 GRCh37: 6:143094371-143094371
GRCh38: 6:142773234-142773234
20 HIVEP2 NM_006734.4(HIVEP2):c.601C>A (p.Pro201Thr) SNV Uncertain significance 931017 GRCh37: 6:143095275-143095275
GRCh38: 6:142774138-142774138
21 HIVEP2 NM_006734.4(HIVEP2):c.3730A>G (p.Lys1244Glu) SNV Uncertain significance 931682 GRCh37: 6:143092146-143092146
GRCh38: 6:142771009-142771009
22 HIVEP2 NM_006734.4(HIVEP2):c.7310A>C (p.Asp2437Ala) SNV Uncertain significance 931829 GRCh37: 6:143074275-143074275
GRCh38: 6:142753138-142753138
23 HIVEP2 NM_006734.4(HIVEP2):c.4781T>A (p.Leu1594Gln) SNV Uncertain significance 932018 GRCh37: 6:143091095-143091095
GRCh38: 6:142769958-142769958
24 HIVEP2 NM_006734.4(HIVEP2):c.3064C>T (p.His1022Tyr) SNV Uncertain significance 982883 GRCh37: 6:143092812-143092812
GRCh38: 6:142771675-142771675
25 HIVEP2 NM_006734.4(HIVEP2):c.4024G>A (p.Val1342Ile) SNV Uncertain significance 996884 GRCh37: 6:143091852-143091852
GRCh38: 6:142770715-142770715
26 HIVEP2 NM_006734.4(HIVEP2):c.1913A>G (p.Tyr638Cys) SNV Uncertain significance 1031080 GRCh37: 6:143093963-143093963
GRCh38: 6:142772826-142772826
27 HIVEP2 NM_006734.4(HIVEP2):c.2156C>T (p.Thr719Ile) SNV Uncertain significance 1031081 GRCh37: 6:143093720-143093720
GRCh38: 6:142772583-142772583
28 HIVEP2 NM_006734.4(HIVEP2):c.4022A>C (p.His1341Pro) SNV Uncertain significance 1031082 GRCh37: 6:143091854-143091854
GRCh38: 6:142770717-142770717
29 HIVEP2 NM_006734.4(HIVEP2):c.4214C>G (p.Pro1405Arg) SNV Uncertain significance 1031083 GRCh37: 6:143091662-143091662
GRCh38: 6:142770525-142770525
30 HIVEP2 NM_006734.4(HIVEP2):c.6277G>A (p.Glu2093Lys) SNV Uncertain significance 1031084 GRCh37: 6:143081148-143081148
GRCh38: 6:142760011-142760011
31 HIVEP2 NM_006734.4(HIVEP2):c.3212C>T (p.Pro1071Leu) SNV Uncertain significance 1033136 GRCh37: 6:143092664-143092664
GRCh38: 6:142771527-142771527
32 HIVEP2 NM_006734.4(HIVEP2):c.3281A>C (p.Gln1094Pro) SNV Uncertain significance 1033137 GRCh37: 6:143092595-143092595
GRCh38: 6:142771458-142771458
33 HIVEP2 NM_006734.4(HIVEP2):c.4465C>G (p.Arg1489Gly) SNV Uncertain significance 1033138 GRCh37: 6:143091411-143091411
GRCh38: 6:142770274-142770274
34 HIVEP2 NM_006734.4(HIVEP2):c.4828C>T (p.Arg1610Cys) SNV Uncertain significance 1033139 GRCh37: 6:143091048-143091048
GRCh38: 6:142769911-142769911
35 HIVEP2 NM_006734.4(HIVEP2):c.967A>G (p.Met323Val) SNV Uncertain significance 1033140 GRCh37: 6:143094909-143094909
GRCh38: 6:142773772-142773772
36 HIVEP2 NM_006734.4(HIVEP2):c.1339C>T (p.Arg447Cys) SNV Likely benign 982904 GRCh37: 6:143094537-143094537
GRCh38: 6:142773400-142773400

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

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
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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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