MCID: MNT211
MIFTS: 22

Mental Retardation, Autosomal Dominant 23

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 23

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 23:

Name: Mental Retardation, Autosomal Dominant 23 57 75 29 6 73
Mrd23 57 12 75
Intellectual Disability-Facial Dysmorphism Syndrome Due to Setd5 Haploinsufficiency 59
Autosomal Dominant Non-Syndromic Intellectual Disability 23 12
Mental Retardation, Autosomal Dominant, Type 23 40
Autosomal Dominant Mental Retardation 23 12

Characteristics:

Orphanet epidemiological data:

59
intellectual disability-facial dysmorphism syndrome due to setd5 haploinsufficiency
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable dysmorphic features


HPO:

32
mental retardation, autosomal dominant 23:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 23

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal dominant 23: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD23 patients manifest moderate to severe intellectual disability with additional variable features of brachycephaly, a low hairline, depressed nasal bridge, prominent high nasal root, tubular nose, upslanting palpebral fissures, long and smooth philtrum, micrognathia, thin upper lip, and crowded teeth. Behavioral problems, including obsessive-compulsive disorder, hand flapping with ritualized behavior, and autism, are prominent features.

MalaCards based summary : Mental Retardation, Autosomal Dominant 23, is also known as mrd23. An important gene associated with Mental Retardation, Autosomal Dominant 23 is SETD5 (SET Domain Containing 5). Related phenotypes are cryptorchidism and hypospadias

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of SETD5 on chromosome 3p25.3.

Description from OMIM: 615761

Related Diseases for Mental Retardation, Autosomal Dominant 23

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 23

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
kyphosis
lordosis

Head And Neck Head:
brachycephaly

Head And Neck Eyes:
strabismus
myopia
synophrys
astigmatism
upslanting palpebral fissures
more
Genitourinary External Genitalia Male:
hypospadias

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

Head And Neck Teeth:
crowded teeth

Abdomen Gastrointestinal:
chewing abnormalities

Head And Neck Nose:
depressed nasal bridge
anteverted nares
tubular nose
prominent, high nasal root

Head And Neck Face:
micrognathia
long, smooth philtrum

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Neurologic Behavioral Psychiatric Manifestations:
obsessive-compulsive behavior
autistic features
hand-flapping

Neurologic Central Nervous System:
delayed psychomotor development
delayed speech
intellectual disability, moderate to severe

Skin Nails Hair Hair:
low hairline


Clinical features from OMIM:

615761

Human phenotypes related to Mental Retardation, Autosomal Dominant 23:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 hypospadias 32 HP:0000047
3 thin upper lip vermilion 32 HP:0000219
4 brachycephaly 32 HP:0000248
5 micrognathia 32 HP:0000347
6 anteverted nares 32 HP:0000463
7 astigmatism 32 HP:0000483
8 strabismus 32 HP:0000486
9 myopia 32 HP:0000545
10 upslanted palpebral fissure 32 HP:0000582
11 synophrys 32 HP:0000664
12 dental crowding 32 HP:0000678
13 obsessive-compulsive behavior 32 HP:0000722
14 delayed speech and language development 32 HP:0000750
15 intellectual disability 32 HP:0001249
16 global developmental delay 32 HP:0001263
17 drooling 32 HP:0002307
18 scoliosis 32 HP:0002650
19 downturned corners of mouth 32 HP:0002714
20 kyphosis 32 HP:0002808
21 hyperlordosis 32 HP:0003307
22 depressed nasal bridge 32 HP:0005280

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 23

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 23

Genetic Tests for Mental Retardation, Autosomal Dominant 23

Genetic tests related to Mental Retardation, Autosomal Dominant 23:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 23 29 SETD5

Anatomical Context for Mental Retardation, Autosomal Dominant 23

Publications for Mental Retardation, Autosomal Dominant 23

Variations for Mental Retardation, Autosomal Dominant 23

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 23:

75
# Symbol AA change Variation ID SNP ID
1 SETD5 p.Ser175Gly VAR_078954

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 23:

6
(show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 SETD5 NM_001080517.2(SETD5): c.1195A> T (p.Lys399Ter) single nucleotide variant Pathogenic rs587777325 GRCh37 Chromosome 3, 9486739: 9486739
2 SETD5 NM_001080517.2(SETD5): c.1195A> T (p.Lys399Ter) single nucleotide variant Pathogenic rs587777325 GRCh38 Chromosome 3, 9445055: 9445055
3 SETD5 NM_001080517.2(SETD5): c.2177_2178delCA (p.Thr726Asnfs) deletion Pathogenic rs587777326 GRCh37 Chromosome 3, 9490145: 9490146
4 SETD5 NM_001080517.2(SETD5): c.2177_2178delCA (p.Thr726Asnfs) deletion Pathogenic rs587777326 GRCh38 Chromosome 3, 9448461: 9448462
5 SETD5 NM_001080517.2(SETD5): c.3001C> T (p.Arg1001Ter) single nucleotide variant Pathogenic rs587777327 GRCh37 Chromosome 3, 9512419: 9512419
6 SETD5 NM_001080517.2(SETD5): c.3001C> T (p.Arg1001Ter) single nucleotide variant Pathogenic rs587777327 GRCh38 Chromosome 3, 9470735: 9470735
7 SETD5 NM_001080517.2(SETD5): c.3771dupG (p.Ser1258Glufs) duplication Pathogenic rs587777328 GRCh37 Chromosome 3, 9517217: 9517217
8 SETD5 NM_001080517.2(SETD5): c.3771dupG (p.Ser1258Glufs) duplication Pathogenic rs587777328 GRCh38 Chromosome 3, 9475533: 9475533
9 SETD5 NM_001080517.2(SETD5): c.2302C> T (p.Arg768Ter) single nucleotide variant Pathogenic rs864321657 GRCh37 Chromosome 3, 9490270: 9490270
10 SETD5 NM_001080517.2(SETD5): c.2302C> T (p.Arg768Ter) single nucleotide variant Pathogenic rs864321657 GRCh38 Chromosome 3, 9448586: 9448586
11 SETD5 NM_001080517.2(SETD5): c.547_567+60del deletion Pathogenic GRCh38 Chromosome 3, 9435886: 9435966
12 SETD5 NM_001080517.2(SETD5): c.547_567+60del deletion Pathogenic GRCh37 Chromosome 3, 9477570: 9477650
13 SETD5 NM_001080517.2(SETD5): c.538C> T (p.Arg180Cys) single nucleotide variant Uncertain significance rs753185558 GRCh37 Chromosome 3, 9477561: 9477561
14 SETD5 NM_001080517.2(SETD5): c.538C> T (p.Arg180Cys) single nucleotide variant Uncertain significance rs753185558 GRCh38 Chromosome 3, 9435877: 9435877
15 SETD5 NM_001080517.2(SETD5): c.1125dup (p.Val376Cysfs) duplication Pathogenic rs1135401767 GRCh38 Chromosome 3, 9443355: 9443355
16 SETD5 NM_001080517.2(SETD5): c.1125dup (p.Val376Cysfs) duplication Pathogenic rs1135401767 GRCh37 Chromosome 3, 9485039: 9485039
17 SETD5 NM_001080517.2(SETD5): c.3631+1G> T single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 9474583: 9474583
18 SETD5 NM_001080517.2(SETD5): c.3631+1G> T single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 9516267: 9516267
19 SETD5 NM_001080517.2(SETD5): c.1893_1894insA (p.Arg632Thrfs) insertion Pathogenic GRCh37 Chromosome 3, 9489480: 9489481
20 SETD5 NM_001080517.2(SETD5): c.1893_1894insA (p.Arg632Thrfs) insertion Pathogenic GRCh38 Chromosome 3, 9447796: 9447797
21 SETD5 NM_001080517.2(SETD5): c.2508dup (p.Arg837Serfs) duplication Pathogenic GRCh37 Chromosome 3, 9506140: 9506140
22 SETD5 NM_001080517.2(SETD5): c.2508dup (p.Arg837Serfs) duplication Pathogenic GRCh38 Chromosome 3, 9464456: 9464456
23 SETD5 NM_001080517.2(SETD5): c.1783-1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 3, 9447685: 9447685
24 SETD5 NM_001080517.2(SETD5): c.1783-1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 3, 9489369: 9489369
25 SETD5 NM_001080517.2(SETD5): c.2757delAinsAA (p.Val920Serfs) indel Pathogenic GRCh37 Chromosome 3, 9512175: 9512175
26 SETD5 NM_001080517.2(SETD5): c.2757delAinsAA (p.Val920Serfs) indel Pathogenic GRCh38 Chromosome 3, 9470491: 9470491
27 SETD5 NM_001080517.2(SETD5): c.1931C> G (p.Ser644Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 9447834: 9447834
28 SETD5 NM_001080517.2(SETD5): c.1931C> G (p.Ser644Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 9489518: 9489518

Expression for Mental Retardation, Autosomal Dominant 23

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 23.

Pathways for Mental Retardation, Autosomal Dominant 23

GO Terms for Mental Retardation, Autosomal Dominant 23

Sources for Mental Retardation, Autosomal Dominant 23

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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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