MRD24
MCID: MNT214
MIFTS: 26

Mental Retardation, Autosomal Dominant 24 (MRD24)

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 24

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 24:

Name: Mental Retardation, Autosomal Dominant 24 58 76 30 6 74
Mrd24 58 12 76
Autosomal Dominant Non-Syndromic Intellectual Disability 24 12 15
Mental Retardation, Autosomal Dominant, Type 24 41
Autosomal Dominant Mental Retardation 24 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation


HPO:

33
mental retardation, autosomal dominant 24:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 24

UniProtKB/Swiss-Prot : 76 Mental retardation, autosomal dominant 24: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, Autosomal Dominant 24, is also known as mrd24. An important gene associated with Mental Retardation, Autosomal Dominant 24 is DEAF1 (DEAF1 Transcription Factor). Affiliated tissues include eye, skin and bone, and related phenotypes are sacral dimple and intellectual disability

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DEAF1 on chromosome 11p15.5.

Description from OMIM: 615828

Related Diseases for Mental Retardation, Autosomal Dominant 24

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 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 Mental Retardation, Autosomal Recessive 66
Autosomal Dominant Mental Retardation 55

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 24

Human phenotypes related to Mental Retardation, Autosomal Dominant 24:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 sacral dimple 33 occasional (7.5%) HP:0000960
2 intellectual disability 33 HP:0001249
3 gait disturbance 33 HP:0001288
4 mandibular prognathia 33 HP:0000303
5 global developmental delay 33 HP:0001263
6 thick lower lip vermilion 33 HP:0000179
7 aggressive behavior 33 HP:0000718
8 recurrent infections 33 HP:0002719
9 tented upper lip vermilion 33 HP:0010804
10 horizontal eyebrow 33 HP:0011228
11 poor eye contact 33 HP:0000817
12 mood swings 33 HP:0000720

Symptoms via clinical synopsis from OMIM:

58
Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
mood swings
autistic features
happy disposition
compulsive behavior

Head And Neck Eyes:
poor eye contact
straight eyebrows

Head And Neck Face:
prominent chin

Head And Neck Nose:
full nasal tip

Skin Nails Hair Skin:
sacral dimple (2 patients)

Immunology:
recurrent infections

Neurologic Central Nervous System:
developmental delay
gait abnormalities
mental retardation, moderate to severe
high pain threshold
lack of expressive speech
more
Head And Neck Mouth:
tented upper lip
full lower lip

Skeletal Feet:
skin syndactyly, 2-3

Clinical features from OMIM:

615828

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 24

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 24

Genetic Tests for Mental Retardation, Autosomal Dominant 24

Genetic tests related to Mental Retardation, Autosomal Dominant 24:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 24 30 DEAF1

Anatomical Context for Mental Retardation, Autosomal Dominant 24

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 24:

42
Eye, Skin, Bone

Publications for Mental Retardation, Autosomal Dominant 24

Articles related to Mental Retardation, Autosomal Dominant 24:

# Title Authors Year
1
Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene. ( 30451703 )
2019
2
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. ( 24726472 )
2014
3
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. ( 23020937 )
2012
4
A de novo paradigm for mental retardation. ( 21076407 )
2010

Variations for Mental Retardation, Autosomal Dominant 24

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 24:

76
# Symbol AA change Variation ID SNP ID
1 DEAF1 p.Ile228Ser VAR_065089 rs587777406
2 DEAF1 p.Arg224Trp VAR_071371 rs587777408
3 DEAF1 p.Arg254Ser VAR_071373 rs587777409
4 DEAF1 p.Gln264Pro VAR_071374 rs587777407

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 24:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 DEAF1 NM_021008.3(DEAF1): c.683T> G (p.Ile228Ser) single nucleotide variant Pathogenic rs587777406 GRCh38 Chromosome 11, 686979: 686979
2 DEAF1 NM_021008.3(DEAF1): c.683T> G (p.Ile228Ser) single nucleotide variant Pathogenic rs587777406 GRCh37 Chromosome 11, 686979: 686979
3 DEAF1 NM_021008.3(DEAF1): c.791A> C (p.Gln264Pro) single nucleotide variant Uncertain significance rs587777407 GRCh38 Chromosome 11, 686871: 686871
4 DEAF1 NM_021008.3(DEAF1): c.791A> C (p.Gln264Pro) single nucleotide variant Uncertain significance rs587777407 GRCh37 Chromosome 11, 686871: 686871
5 DEAF1 NM_021008.3(DEAF1): c.670C> T (p.Arg224Trp) single nucleotide variant Pathogenic rs587777408 GRCh38 Chromosome 11, 686992: 686992
6 DEAF1 NM_021008.3(DEAF1): c.670C> T (p.Arg224Trp) single nucleotide variant Pathogenic rs587777408 GRCh37 Chromosome 11, 686992: 686992
7 DEAF1 NM_021008.3(DEAF1): c.762A> C (p.Arg254Ser) single nucleotide variant Pathogenic rs587777409 GRCh38 Chromosome 11, 686900: 686900
8 DEAF1 NM_021008.3(DEAF1): c.762A> C (p.Arg254Ser) single nucleotide variant Pathogenic rs587777409 GRCh37 Chromosome 11, 686900: 686900
9 DEAF1 NM_021008.3(DEAF1): c.997+4A> C single nucleotide variant Pathogenic rs886040972 GRCh38 Chromosome 11, 680959: 680959
10 DEAF1 NM_021008.3(DEAF1): c.997+4A> C single nucleotide variant Pathogenic rs886040972 GRCh37 Chromosome 11, 680959: 680959
11 DEAF1 NM_021008.3(DEAF1): c.634G> A (p.Gly212Ser) single nucleotide variant Pathogenic/Likely pathogenic rs1057519565 GRCh37 Chromosome 11, 687941: 687941
12 DEAF1 NM_021008.3(DEAF1): c.634G> A (p.Gly212Ser) single nucleotide variant Pathogenic/Likely pathogenic rs1057519565 GRCh38 Chromosome 11, 687941: 687941
13 DEAF1 NM_021008.3(DEAF1): c.1123A> G (p.Thr375Ala) single nucleotide variant Uncertain significance rs1135401947 GRCh38 Chromosome 11, 679691: 679691
14 DEAF1 NM_021008.3(DEAF1): c.1123A> G (p.Thr375Ala) single nucleotide variant Uncertain significance rs1135401947 GRCh37 Chromosome 11, 679691: 679691
15 DEAF1 NM_021008.3(DEAF1): c.737G> C (p.Arg246Thr) single nucleotide variant Likely pathogenic rs1554944271 GRCh37 Chromosome 11, 686925: 686925
16 DEAF1 NM_021008.3(DEAF1): c.737G> C (p.Arg246Thr) single nucleotide variant Likely pathogenic rs1554944271 GRCh38 Chromosome 11, 686925: 686925
17 DEAF1 NM_021008.3(DEAF1): c.913_915delAAG (p.Lys305del) deletion Likely pathogenic rs1554943158 GRCh37 Chromosome 11, 681045: 681047
18 DEAF1 NM_021008.3(DEAF1): c.913_915delAAG (p.Lys305del) deletion Likely pathogenic rs1554943158 GRCh38 Chromosome 11, 681045: 681047
19 DEAF1 NM_021008.3(DEAF1): c.700T> A (p.Trp234Arg) single nucleotide variant Likely pathogenic rs1057524157 GRCh37 Chromosome 11, 686962: 686962
20 DEAF1 NM_021008.3(DEAF1): c.700T> A (p.Trp234Arg) single nucleotide variant Likely pathogenic rs1057524157 GRCh38 Chromosome 11, 686962: 686962
21 DEAF1 NM_021008.3(DEAF1): c.1621G> A (p.Gly541Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 644627: 644627
22 DEAF1 NM_021008.3(DEAF1): c.1621G> A (p.Gly541Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 644627: 644627
23 DEAF1 NM_021008.3(DEAF1): c.776C> T (p.Ala259Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 686886: 686886
24 DEAF1 NM_021008.3(DEAF1): c.776C> T (p.Ala259Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 686886: 686886

Expression for Mental Retardation, Autosomal Dominant 24

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 24.

Pathways for Mental Retardation, Autosomal Dominant 24

GO Terms for Mental Retardation, Autosomal Dominant 24

Sources for Mental Retardation, Autosomal Dominant 24

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