MCID: MNT241
MIFTS: 24

Mental Retardation, Autosomal Dominant 32

Categories: Genetic diseases, Neuronal diseases, Cardiovascular diseases, Bone diseases, Fetal diseases, Rare diseases, Mental diseases, Eye diseases, Metabolic diseases, Skin diseases, Gastrointestinal 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 bone, and related phenotypes are abnormality of the dentition and thin upper lip vermilion

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 Autosomal Dominant Mental Retardation 55
Autosomal Dominant Mental Retardation 61

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:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 abnormality of the dentition 32 HP:0000164
2 thin upper lip vermilion 32 HP:0000219
3 microcephaly 32 HP:0000252
4 epicanthus 32 HP:0000286
5 microretrognathia 32 HP:0000308
6 narrow forehead 32 HP:0000341
7 posteriorly rotated ears 32 HP:0000358
8 low-set ears 32 HP:0000369
9 prominent nasal bridge 32 HP:0000426
10 broad nasal tip 32 HP:0000455
11 strabismus 32 HP:0000486
12 ptosis 32 HP:0000508
13 intellectual disability 32 HP:0001249
14 seizures 32 occasional (7.5%) HP:0001250
15 global developmental delay 32 HP:0001263
16 neonatal hypotonia 32 HP:0001319
17 plagiocephaly 32 HP:0001357
18 craniosynostosis 32 HP:0001363
19 ventricular septal defect 32 HP:0001629
20 atrial septal defect 32 HP:0001631
21 patent ductus arteriosus 32 HP:0001643
22 respiratory distress 32 HP:0002098
23 neonatal respiratory distress 32 HP:0002643
24 downturned corners of mouth 32 HP:0002714
25 feeding difficulties 32 HP:0011968
26 cortical visual impairment 32 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
Bone

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 16)
# 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

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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7 CNVD
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10 dbSNP
11 DGIdb
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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