DYX1
MCID: DYS121
MIFTS: 27

Dyslexia 1 (DYX1)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Dyslexia 1

MalaCards integrated aliases for Dyslexia 1:

Name: Dyslexia 1 57 72 29 6
Dyslexia, Susceptibility to, 1 57 13
Dyx1 57 72
Specific Reading Disability Type 1 72
Reading Disability, Specific, 1 57
Word-Blindness, Congenital 57
Congenital Word-Blindness 72
Dyslexia, Type 1 39
Dyslexia 4 72
Dyslexia 7 72
Dyx4 72
Dyx7 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
dyslexia 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 127700

Summaries for Dyslexia 1

OMIM® : 57 Dyslexia is a disorder manifested by difficulty learning to read despite conventional instruction, adequate intelligence, and sociocultural opportunity. It is among the most common neurodevelopmental disorders, with a prevalence of 5 to 12%. Although there is evidence for familial clustering and heritability, the disorder is considered a complex multifactorial trait (Schumacher et al., 2007). (127700) (Updated 20-May-2021)

MalaCards based summary : Dyslexia 1, also known as dyslexia, susceptibility to, 1, is related to dyslexia and gerstmann syndrome. An important gene associated with Dyslexia 1 is DNAAF4 (Dynein Axonemal Assembly Factor 4). Affiliated tissues include cortex and brain, and related phenotypes are neurological speech impairment and dyslexia

UniProtKB/Swiss-Prot : 72 Dyslexia 1: A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability.

Related Diseases for Dyslexia 1

Graphical network of the top 20 diseases related to Dyslexia 1:



Diseases related to Dyslexia 1

Symptoms & Phenotypes for Dyslexia 1

Human phenotypes related to Dyslexia 1:

31
# Description HPO Frequency HPO Source Accession
1 neurological speech impairment 31 HP:0002167
2 dyslexia 31 HP:0010522

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neuro:
dyslexia
speech defects

Clinical features from OMIM®:

127700 (Updated 20-May-2021)

Drugs & Therapeutics for Dyslexia 1

Search Clinical Trials , NIH Clinical Center for Dyslexia 1

Genetic Tests for Dyslexia 1

Genetic tests related to Dyslexia 1:

# Genetic test Affiliating Genes
1 Dyslexia 1 29 DNAAF4

Anatomical Context for Dyslexia 1

MalaCards organs/tissues related to Dyslexia 1:

40
Cortex, Brain

Publications for Dyslexia 1

Articles related to Dyslexia 1:

(show top 50) (show all 60)
# Title Authors PMID Year
1
A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. 61 57 6
12954984 2003
2
TDT-association analysis of EKN1 and dyslexia in a Colorado twin cohort. 61 57
16133186 2005
3
Two translocations of chromosome 15q associated with dyslexia. 61 57
11015455 2000
4
SNP variations in the 7q33 region containing DGKI are associated with dyslexia in the Finnish and German populations. 57
21203819 2011
5
Pleiotropic effects of DCDC2 and DYX1C1 genes on language and mathematics traits in nuclear families of developmental dyslexia. 57
21046216 2011
6
Familial dyslexia in a large Swedish family: a whole genome linkage scan. 57
20862559 2011
7
Genetics of dyslexia: the evolving landscape. 57
17307837 2007
8
Linkage analyses of four regions previously implicated in dyslexia: confirmation of a locus on chromosome 15q. 57
15389770 2004
9
A dyslexia susceptibility locus (DYX7) linked to dopamine D4 receptor (DRD4) region on chromosome 11p15.5. 57
14755455 2004
10
A locus on 15q15-15qter influences dyslexia: further support from a transmission/disequilibrium study in an Italian speaking population. 57
14729831 2004
11
A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32. 57
12746395 2003
12
Neural deficits in children with dyslexia ameliorated by behavioral remediation: evidence from functional MRI. 57
12604786 2003
13
Evidence for a susceptibility locus on chromosome 6q influencing phonological coding dyslexia. 57
11496366 2001
14
Disruption of the neural response to rapid acoustic stimuli in dyslexia: evidence from functional MRI. 57
11095716 2000
15
Family-based association mapping provides evidence for a gene for reading disability on chromosome 15q. 57
10749993 2000
16
Evidence for linkage of spelling disability to chromosome 15. 57
9634517 1998
17
Functional disruption in the organization of the brain for reading in dyslexia. 57
9482939 1998
18
Susceptibility loci for distinct components of developmental dyslexia on chromosomes 6 and 15. 57
8981944 1997
19
Abnormal processing of visual motion in dyslexia revealed by functional brain imaging. 57
8657305 1996
20
A biological marker for dyslexia. 57
8657297 1996
21
Temporal processing deficits of language-learning impaired children ameliorated by training. 57
8539603 1996
22
Language comprehension in language-learning impaired children improved with acoustically modified speech. 57
8539604 1996
23
Suggestive linkage of developmental dyslexia to chromosome 1p34-p36. 57
8101276 1993
24
Cosegregation of balanced translocation (1;2) with retarded speech development and dyslexia. 57
8101277 1993
25
Evidence that dyslexia may represent the lower tail of a normal distribution of reading ability. 57
1727544 1992
26
Dyslexia--is it a disease? 57
1727548 1992
27
Evidence for a genetic aetiology in reading disability of twins. 57
3657975 1987
28
Dyslexia and chromosome 15 heteromorphism: negative lod score in a Danish material. 57
3652490 1987
29
Left-handedness and immune disorders in familial dyslexics. 57
3579681 1987
30
A twin study of genetic influences on reading and spelling ability and disability. 57
3584294 1987
31
Specific reading disability: identification of an inherited form through linkage analysis. 57
6828864 1983
32
Genetic models of reading disability. 57
7425998 1980
33
Familial nature of reading disability. 57
638389 1978
34
Auditory cytoarchitectonic abnormalities in a case of familial developmental dyslexia. 57
757073 1978
35
Dyslexia: search for phenotypic and genetic heterogeneity. 57
677173 1978
36
Dyslexia revisited. A review. 57
564328 1978
37
The genetics of specific reading disability. 57
962317 1976
38
Genetical investigations in dyslexia. 57
5025482 1972
39
Temporal transcriptome analysis of neuronal commitment reveals the preeminent role of the divergent lncRNA biotype and a critical candidate gene during differentiation. 61
33563937 2020
40
Temporal transcriptome analysis of neuronal commitment reveals the preeminent role of the divergent lncRNA biotype and a critical candidate gene during differentiation. 61
32351715 2020
41
Vowel letter dyslexia. 61
29888628 2018
42
The role of READ1 and KIAA0319 genetic variations in developmental dyslexia: testing main and interactive effects. 61
29066855 2017
43
The role of DCDC2 genetic variants and low socioeconomic status in vulnerability to attention problems. 61
25012462 2015
44
The DCDC2/intron 2 deletion and white matter disorganization: focus on developmental dyslexia. 61
24926531 2014
45
Alleles of a polymorphic ETV6 binding site in DCDC2 confer risk of reading and language impairment. 61
23746548 2013
46
Action video games make dyslexic children read better. 61
23453956 2013
47
Molecular networks of DYX1C1 gene show connection to neuronal migration genes and cytoskeletal proteins. 61
23036959 2013
48
A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1. 61
20798984 2011
49
The genetics of reading disability. 61
19302769 2009
50
Evaluation of candidate genes for DYX1 and DYX2 in families with dyslexia. 61
17450541 2007

Variations for Dyslexia 1

ClinVar genetic disease variations for Dyslexia 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAAF4-CCPG1 , DNAAF4 NM_130810.4(DNAAF4):c.-3G>A SNV risk factor 2135 rs3743205 GRCh37: 15:55790530-55790530
GRCh38: 15:55498332-55498332
2 DNAAF4-CCPG1 , DNAAF4 NM_130810.4(DNAAF4):c.1249G>T (p.Glu417Ter) SNV risk factor 2136 rs57809907 GRCh37: 15:55722882-55722882
GRCh38: 15:55430684-55430684
3 DNAAF4-CCPG1 , DNAAF4 NM_130810.4(DNAAF4):c.384_390del (p.Lys127_Tyr128insTer) Deletion Likely pathogenic 804473 rs1595952313 GRCh37: 15:55783336-55783342
GRCh38: 15:55491138-55491144

Expression for Dyslexia 1

Search GEO for disease gene expression data for Dyslexia 1.

Pathways for Dyslexia 1

GO Terms for Dyslexia 1

Sources for Dyslexia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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