MCID: MNT214
MIFTS: 24

Mental Retardation, Autosomal Dominant 24

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 24

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 24:

Name: Mental Retardation, Autosomal Dominant 24 57 75 29 6 73
Mrd24 57 12 75
Autosomal Dominant Non-Syndromic Intellectual Disability 24 12
Mental Retardation, Autosomal Dominant, Type 24 40
Autosomal Dominant Mental Retardation 24 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation


HPO:

32
mental retardation, autosomal dominant 24:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 24

UniProtKB/Swiss-Prot : 75 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 skin and eye, and related phenotypes are thick lower lip vermilion and mandibular prognathia

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 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 24

Symptoms via clinical synopsis from OMIM:

57
Immunology:
recurrent infections

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)

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

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

Human phenotypes related to Mental Retardation, Autosomal Dominant 24:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 thick lower lip vermilion 32 HP:0000179
2 mandibular prognathia 32 HP:0000303
3 aggressive behavior 32 HP:0000718
4 mood swings 32 HP:0000720
5 poor eye contact 32 HP:0000817
6 sacral dimple 32 occasional (7.5%) HP:0000960
7 intellectual disability 32 HP:0001249
8 global developmental delay 32 HP:0001263
9 gait disturbance 32 HP:0001288
10 recurrent infections 32 HP:0002719
11 tented upper lip vermilion 32 HP:0010804
12 horizontal eyebrow 32 HP:0011228

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 29 DEAF1

Anatomical Context for Mental Retardation, Autosomal Dominant 24

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

41
Skin, Eye

Publications for Mental Retardation, Autosomal Dominant 24

Variations for Mental Retardation, Autosomal Dominant 24

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

75
# 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 18)
# 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 Pathogenic rs587777407 GRCh38 Chromosome 11, 686871: 686871
4 DEAF1 NM_021008.3(DEAF1): c.791A> C (p.Gln264Pro) single nucleotide variant Pathogenic 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.634G> A (p.Gly212Ser) single nucleotide variant Pathogenic/Likely pathogenic rs1057519565 GRCh37 Chromosome 11, 687941: 687941
10 DEAF1 NM_021008.3(DEAF1): c.634G> A (p.Gly212Ser) single nucleotide variant Pathogenic/Likely pathogenic rs1057519565 GRCh38 Chromosome 11, 687941: 687941
11 DEAF1 NM_021008.3(DEAF1): c.1123A> G (p.Thr375Ala) single nucleotide variant Uncertain significance rs1135401947 GRCh38 Chromosome 11, 679691: 679691
12 DEAF1 NM_021008.3(DEAF1): c.1123A> G (p.Thr375Ala) single nucleotide variant Uncertain significance rs1135401947 GRCh37 Chromosome 11, 679691: 679691
13 DEAF1 NM_021008.3(DEAF1): c.737G> C (p.Arg246Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 686925: 686925
14 DEAF1 NM_021008.3(DEAF1): c.737G> C (p.Arg246Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 686925: 686925
15 DEAF1 NM_021008.3(DEAF1): c.913_915delAAG (p.Lys305del) deletion Likely pathogenic GRCh37 Chromosome 11, 681045: 681047
16 DEAF1 NM_021008.3(DEAF1): c.913_915delAAG (p.Lys305del) deletion Likely pathogenic GRCh38 Chromosome 11, 681045: 681047
17 DEAF1 NM_021008.3(DEAF1): c.700T> A (p.Trp234Arg) single nucleotide variant Likely pathogenic rs1057524157 GRCh38 Chromosome 11, 686962: 686962
18 DEAF1 NM_021008.3(DEAF1): c.700T> A (p.Trp234Arg) single nucleotide variant Likely pathogenic rs1057524157 GRCh37 Chromosome 11, 686962: 686962

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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7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
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44 MeSH
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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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