MRD32
MCID: MNT241
MIFTS: 28

Mental Retardation, Autosomal Dominant 32 (MRD32)

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 32

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 32:

Name: Mental Retardation, Autosomal Dominant 32 57 75 29 6
Mrd32 57 12 75
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome 59
Autosomal Dominant Non-Syndromic Intellectual Disability 32 12
Mental Retardation, Autosomal Dominant, Type 32 40
Autosomal Dominant Mental Retardation 32 12

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
facial dysmorphic features are variable
all reported mutations have occurred de novo


HPO:

32
mental retardation, autosomal dominant 32:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 32

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal dominant 32: 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. MRD32 patients manifest intellectual disability, dysmorphic facial features, delayed psychomotor development, and lack of speech.

MalaCards based summary : Mental Retardation, Autosomal Dominant 32, is also known as mrd32. An important gene associated with Mental Retardation, Autosomal Dominant 32 is KAT6A (Lysine Acetyltransferase 6A). Affiliated tissues include skin, bone and eye, and related phenotypes are ptosis and seizures

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of KAT6A on chromosome 8p11.21.

Description from OMIM: 616268

Related Diseases for Mental Retardation, Autosomal Dominant 32

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 Dominant 19 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
Autosomal Dominant Mental Retardation 55

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 32

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Head:
microcephaly
plagiocephaly

Cardiovascular Vascular:
patent ductus arteriosus

Head And Neck Nose:
prominent nasal bridge
broad nasal tip
prominent nasal root

Head And Neck Face:
microretrognathia
bitemporal narrowing

Head And Neck Teeth:
dental anomalies

Muscle Soft Tissue:
hypotonia, neonatal

Growth Other:
poor overall growth

Head And Neck Eyes:
ptosis
strabismus
cortical visual impairment
epicanthal folds

Abdomen Gastrointestinal:
feeding difficulties
gastrointestinal reflux

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Skeletal Skull:
craniosynostosis

Head And Neck Mouth:
thin upper lip
downturned corners of the mouth

Neurologic Central Nervous System:
delayed psychomotor development
seizures (rare)
poor or absent speech

Respiratory:
respiratory distress, neonatal


Clinical features from OMIM:

616268

Human phenotypes related to Mental Retardation, Autosomal Dominant 32:

59 32 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
2 seizures 59 32 occasional (7.5%) Frequent (79-30%) HP:0001250
3 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
4 abnormal facial shape 59 32 hallmark (90%) Very frequent (99-80%) HP:0001999
5 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
6 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
7 neonatal hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001319
8 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
9 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
10 laryngomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001601
11 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
12 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
13 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
14 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
15 patent ductus arteriosus 59 32 frequent (33%) Frequent (79-30%) HP:0001643
16 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
17 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
18 atrial septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001631
19 dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001332
20 muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0003552
21 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
22 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
23 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
24 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
25 broad nasal tip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000455
26 ventricular septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001629
27 intestinal malrotation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002566
28 thin upper lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000219
29 craniosynostosis 59 32 frequent (33%) Frequent (79-30%) HP:0001363
30 microretrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000308
31 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
32 plagiocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0001357
33 preauricular pit 59 32 occasional (7.5%) Occasional (29-5%) HP:0004467
34 neonatal respiratory distress 59 32 frequent (33%) Frequent (79-30%) HP:0002643
35 poor speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0002465
36 narrow forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000341
37 lacrimal duct stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0007678
38 low-set ears 32 HP:0000369
39 intellectual disability 32 HP:0001249
40 abnormality of the dentition 32 HP:0000164
41 respiratory distress 32 HP:0002098
42 absent speech 32 HP:0001344
43 growth delay 59 Frequent (79-30%)
44 posteriorly rotated ears 32 HP:0000358
45 cortical visual impairment 59 Frequent (79-30%)
46 cerebral visual impairment 32 frequent (33%) HP:0100704

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 32

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 32

Genetic Tests for Mental Retardation, Autosomal Dominant 32

Genetic tests related to Mental Retardation, Autosomal Dominant 32:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 32 29 KAT6A

Anatomical Context for Mental Retardation, Autosomal Dominant 32

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 32:

41
Skin, Bone, Eye

Publications for Mental Retardation, Autosomal Dominant 32

Variations for Mental Retardation, Autosomal Dominant 32

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 32:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 KAT6A NM_006766.4(KAT6A): c.4108G> T (p.Glu1370Ter) single nucleotide variant Uncertain significance rs138944476 GRCh38 Chromosome 8, 41934112: 41934112
2 KAT6A NM_006766.4(KAT6A): c.4108G> T (p.Glu1370Ter) single nucleotide variant Uncertain significance rs138944476 GRCh37 Chromosome 8, 41791630: 41791630
3 KAT6A NM_006766.4(KAT6A): c.3116_3117delCT (p.Ser1039Terfs) deletion Pathogenic rs786200959 GRCh37 Chromosome 8, 41795009: 41795010
4 KAT6A NM_006766.4(KAT6A): c.3116_3117delCT (p.Ser1039Terfs) deletion Pathogenic rs786200959 GRCh38 Chromosome 8, 41937491: 41937492
5 KAT6A NM_006766.4(KAT6A): c.3385C> T (p.Arg1129Ter) single nucleotide variant Pathogenic rs786200960 GRCh38 Chromosome 8, 41934835: 41934835
6 KAT6A NM_006766.4(KAT6A): c.3385C> T (p.Arg1129Ter) single nucleotide variant Pathogenic rs786200960 GRCh37 Chromosome 8, 41792353: 41792353
7 KAT6A NM_006766.4(KAT6A): c.3070C> T (p.Arg1024Ter) single nucleotide variant Pathogenic rs786200961 GRCh38 Chromosome 8, 41937538: 41937538
8 KAT6A NM_006766.4(KAT6A): c.3070C> T (p.Arg1024Ter) single nucleotide variant Pathogenic rs786200961 GRCh37 Chromosome 8, 41795056: 41795056
9 KAT6A NM_006766.4(KAT6A): c.3879dupA (p.Glu1294Argfs) duplication Pathogenic rs786200952 GRCh38 Chromosome 8, 41934341: 41934341
10 KAT6A NM_006766.4(KAT6A): c.3879dupA (p.Glu1294Argfs) duplication Pathogenic rs786200952 GRCh37 Chromosome 8, 41791859: 41791859
11 KAT6A NM_006766.4(KAT6A): c.5525C> G (p.Thr1842Arg) single nucleotide variant Likely benign rs886037914 GRCh37 Chromosome 8, 41790213: 41790213
12 KAT6A NM_006766.4(KAT6A): c.5525C> G (p.Thr1842Arg) single nucleotide variant Likely benign rs886037914 GRCh38 Chromosome 8, 41932695: 41932695
13 KAT6A NM_006766.4(KAT6A): c.3505C> T (p.Arg1169Ter) single nucleotide variant Pathogenic rs886042000 GRCh37 Chromosome 8, 41792233: 41792233
14 KAT6A NM_006766.4(KAT6A): c.3505C> T (p.Arg1169Ter) single nucleotide variant Pathogenic rs886042000 GRCh38 Chromosome 8, 41934715: 41934715
15 KAT6A NM_006766.4(KAT6A): c.4254_4257delTGAG (p.Glu1419Trpfs) deletion Pathogenic rs1057516049 GRCh37 Chromosome 8, 41791481: 41791484
16 KAT6A NM_006766.4(KAT6A): c.4254_4257delTGAG (p.Glu1419Trpfs) deletion Pathogenic rs1057516049 GRCh38 Chromosome 8, 41933963: 41933966
17 KAT6A NM_006766.4(KAT6A): c.2983G> A (p.Glu995Lys) single nucleotide variant Likely benign rs779315883 GRCh37 Chromosome 8, 41798416: 41798416
18 KAT6A NM_006766.4(KAT6A): c.2983G> A (p.Glu995Lys) single nucleotide variant Likely benign rs779315883 GRCh38 Chromosome 8, 41940898: 41940898
19 KAT6A NM_006766.4(KAT6A): c.3443del (p.Lys1148Argfs) deletion Pathogenic GRCh38 Chromosome 8, 41934777: 41934777
20 KAT6A NM_006766.4(KAT6A): c.3443del (p.Lys1148Argfs) deletion Pathogenic GRCh37 Chromosome 8, 41792295: 41792295
21 KAT6A NM_006766.4(KAT6A): c.4688_4689del (p.Tyr1563Terfs) deletion Likely pathogenic GRCh38 Chromosome 8, 41933531: 41933532
22 KAT6A NM_006766.4(KAT6A): c.4688_4689del (p.Tyr1563Terfs) deletion Likely pathogenic GRCh37 Chromosome 8, 41791049: 41791050
23 KAT6A NM_006766.4(KAT6A): c.3596del (p.Gly1199Aspfs) deletion Likely pathogenic GRCh37 Chromosome 8, 41792142: 41792142
24 KAT6A NM_006766.4(KAT6A): c.3596del (p.Gly1199Aspfs) deletion Likely pathogenic GRCh38 Chromosome 8, 41934624: 41934624

Expression for Mental Retardation, Autosomal Dominant 32

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 32.

Pathways for Mental Retardation, Autosomal Dominant 32

GO Terms for Mental Retardation, Autosomal Dominant 32

Sources for Mental Retardation, Autosomal Dominant 32

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