MCID: ATS390
MIFTS: 13

Autosomal Dominant Non-Syndromic Intellectual Disability 9

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability 9

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Intellectual Disability 9:

Name: Autosomal Dominant Non-Syndromic Intellectual Disability 9 12 15
Mental Retardation, Autosomal Dominant 9 74
Mrd9 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070039
UMLS 74 C3280283

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 9

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of KIF1A on chromosome 2q37.3.

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability 9, is also known as mental retardation, autosomal dominant 9, and has symptoms including muscle spasticity An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability 9 is KIF1A (Kinesin Family Member 1A). Affiliated tissues include brain.

Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Intellectual Disability 9

UMLS symptoms related to Autosomal Dominant Non-Syndromic Intellectual Disability 9:


muscle spasticity

Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability 9

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Non-Syndromic Intellectual Disability 9

Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability 9

Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability 9

MalaCards organs/tissues related to Autosomal Dominant Non-Syndromic Intellectual Disability 9:

42
Brain

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 9

Articles related to Autosomal Dominant Non-Syndromic Intellectual Disability 9:

# Title Authors Year
1
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. ( 25265257 )
2015
2
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. ( 26125038 )
2015
3
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. ( 21376300 )
2011

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability 9

ClinVar genetic disease variations for Autosomal Dominant Non-Syndromic Intellectual Disability 9:

6 (show top 50) (show all 534)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF1A NM_001244008.1(KIF1A): c.296C> T (p.Thr99Met) single nucleotide variant Pathogenic rs387906799 GRCh37 Chromosome 2, 241727535: 241727535
2 KIF1A NM_001244008.1(KIF1A): c.296C> T (p.Thr99Met) single nucleotide variant Pathogenic rs387906799 GRCh38 Chromosome 2, 240788118: 240788118
3 KIF1A NM_001244008.1(KIF1A): c.2840delT (p.Leu947Argfs) deletion Pathogenic rs587778791 GRCh37 Chromosome 2, 241696754: 241696754
4 KIF1A NM_001244008.1(KIF1A): c.2840delT (p.Leu947Argfs) deletion Pathogenic rs587778791 GRCh38 Chromosome 2, 240757337: 240757337
5 KIF1A NM_004321.7(KIF1A): c.1476A> G (p.Pro492=) single nucleotide variant Benign/Likely benign rs35663732 GRCh37 Chromosome 2, 241706757: 241706757
6 KIF1A NM_004321.7(KIF1A): c.1476A> G (p.Pro492=) single nucleotide variant Benign/Likely benign rs35663732 GRCh38 Chromosome 2, 240767340: 240767340
7 KIF1A NM_004321.7(KIF1A): c.2208C> T (p.Ala736=) single nucleotide variant Benign/Likely benign rs35945835 GRCh37 Chromosome 2, 241700676: 241700676
8 KIF1A NM_004321.7(KIF1A): c.2208C> T (p.Ala736=) single nucleotide variant Benign/Likely benign rs35945835 GRCh38 Chromosome 2, 240761259: 240761259
9 KIF1A NM_004321.7(KIF1A): c.234C> T (p.Gly78=) single nucleotide variant Benign/Likely benign rs61744930 GRCh37 Chromosome 2, 241727597: 241727597
10 KIF1A NM_004321.7(KIF1A): c.234C> T (p.Gly78=) single nucleotide variant Benign/Likely benign rs61744930 GRCh38 Chromosome 2, 240788180: 240788180
11 KIF1A NM_004321.7(KIF1A): c.2358C> T (p.Ala786=) single nucleotide variant Benign/Likely benign rs62637652 GRCh37 Chromosome 2, 241700141: 241700141
12 KIF1A NM_004321.7(KIF1A): c.2358C> T (p.Ala786=) single nucleotide variant Benign/Likely benign rs62637652 GRCh38 Chromosome 2, 240760724: 240760724
13 KIF1A NM_004321.7(KIF1A): c.2676C> T (p.Ala892=) single nucleotide variant Conflicting interpretations of pathogenicity rs116297894 GRCh37 Chromosome 2, 241686737: 241686737
14 KIF1A NM_004321.7(KIF1A): c.2676C> T (p.Ala892=) single nucleotide variant Conflicting interpretations of pathogenicity rs116297894 GRCh38 Chromosome 2, 240747320: 240747320
15 KIF1A NM_004321.7(KIF1A): c.2979C> T (p.His993=) single nucleotide variant Benign/Likely benign rs35664935 GRCh37 Chromosome 2, 241685247: 241685247
16 KIF1A NM_004321.7(KIF1A): c.2979C> T (p.His993=) single nucleotide variant Benign/Likely benign rs35664935 GRCh38 Chromosome 2, 240745830: 240745830
17 KIF1A NM_004321.7(KIF1A): c.393C> T (p.Asn131=) single nucleotide variant Benign/Likely benign rs35139906 GRCh37 Chromosome 2, 241726704: 241726704
18 KIF1A NM_004321.7(KIF1A): c.393C> T (p.Asn131=) single nucleotide variant Benign/Likely benign rs35139906 GRCh38 Chromosome 2, 240787287: 240787287
19 KIF1A NM_004321.7(KIF1A): c.3840G> A (p.Pro1280=) single nucleotide variant Benign/Likely benign rs2241683 GRCh37 Chromosome 2, 241664801: 241664801
20 KIF1A NM_004321.7(KIF1A): c.3840G> A (p.Pro1280=) single nucleotide variant Benign/Likely benign rs2241683 GRCh38 Chromosome 2, 240725384: 240725384
21 KIF1A NM_004321.7(KIF1A): c.4016-8C> T single nucleotide variant Benign/Likely benign rs1529663 GRCh37 Chromosome 2, 241662983: 241662983
22 KIF1A NM_004321.7(KIF1A): c.4016-8C> T single nucleotide variant Benign/Likely benign rs1529663 GRCh38 Chromosome 2, 240723566: 240723566
23 KIF1A NM_004321.7(KIF1A): c.4509C> A (p.Thr1503=) single nucleotide variant Benign/Likely benign rs76974316 GRCh37 Chromosome 2, 241660387: 241660387
24 KIF1A NM_004321.7(KIF1A): c.4509C> A (p.Thr1503=) single nucleotide variant Benign/Likely benign rs76974316 GRCh38 Chromosome 2, 240720970: 240720970
25 KIF1A NM_004321.7(KIF1A): c.2899+10C> A single nucleotide variant Conflicting interpretations of pathogenicity rs190997558 GRCh37 Chromosome 2, 241685446: 241685446
26 KIF1A NM_004321.7(KIF1A): c.2899+10C> A single nucleotide variant Conflicting interpretations of pathogenicity rs190997558 GRCh38 Chromosome 2, 240746029: 240746029
27 KIF1A NM_004321.7(KIF1A): c.4446C> T (p.Ser1482=) single nucleotide variant Benign/Likely benign rs371737085 GRCh37 Chromosome 2, 241660450: 241660450
28 KIF1A NM_004321.7(KIF1A): c.4446C> T (p.Ser1482=) single nucleotide variant Benign/Likely benign rs371737085 GRCh38 Chromosome 2, 240721033: 240721033
29 KIF1A NM_001244008.1(KIF1A): c.946C> T (p.Arg316Trp) single nucleotide variant Pathogenic rs672601370 GRCh38 Chromosome 2, 240775863: 240775863
30 KIF1A NM_001244008.1(KIF1A): c.946C> T (p.Arg316Trp) single nucleotide variant Pathogenic rs672601370 GRCh37 Chromosome 2, 241715280: 241715280
31 KIF1A NM_001244008.1(KIF1A): c.757G> A (p.Glu253Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs672601369 GRCh38 Chromosome 2, 240783780: 240783780
32 KIF1A NM_001244008.1(KIF1A): c.757G> A (p.Glu253Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs672601369 GRCh37 Chromosome 2, 241723197: 241723197
33 KIF1A NM_001244008.1(KIF1A): c.746T> A (p.Leu249Gln) single nucleotide variant Likely pathogenic rs672601371 GRCh38 Chromosome 2, 240783791: 240783791
34 KIF1A NM_001244008.1(KIF1A): c.746T> A (p.Leu249Gln) single nucleotide variant Likely pathogenic rs672601371 GRCh37 Chromosome 2, 241723208: 241723208
35 KIF1A NM_001244008.1(KIF1A): c.647G> C (p.Arg216Pro) single nucleotide variant Uncertain significance rs672601368 GRCh38 Chromosome 2, 240785062: 240785062
36 KIF1A NM_001244008.1(KIF1A): c.647G> C (p.Arg216Pro) single nucleotide variant Uncertain significance rs672601368 GRCh37 Chromosome 2, 241724479: 241724479
37 KIF1A NM_001244008.1(KIF1A): c.643A> C (p.Ser215Arg) single nucleotide variant Pathogenic rs672601367 GRCh38 Chromosome 2, 240785066: 240785066
38 KIF1A NM_001244008.1(KIF1A): c.643A> C (p.Ser215Arg) single nucleotide variant Pathogenic rs672601367 GRCh37 Chromosome 2, 241724483: 241724483
39 KIF1A NM_001244008.1(KIF1A): c.604G> C (p.Ala202Pro) single nucleotide variant Pathogenic/Likely pathogenic rs672601366 GRCh38 Chromosome 2, 240786339: 240786339
40 KIF1A NM_001244008.1(KIF1A): c.604G> C (p.Ala202Pro) single nucleotide variant Pathogenic/Likely pathogenic rs672601366 GRCh37 Chromosome 2, 241725756: 241725756
41 KIF1A NM_001244008.1(KIF1A): c.499C> T (p.Arg167Cys) single nucleotide variant Likely pathogenic rs672601365 GRCh38 Chromosome 2, 240786444: 240786444
42 KIF1A NM_001244008.1(KIF1A): c.499C> T (p.Arg167Cys) single nucleotide variant Likely pathogenic rs672601365 GRCh37 Chromosome 2, 241725861: 241725861
43 KIF1A NM_001244008.1(KIF1A): c.430G> T (p.Val144Phe) single nucleotide variant Likely pathogenic rs672601364 GRCh38 Chromosome 2, 240786513: 240786513
44 KIF1A NM_001244008.1(KIF1A): c.430G> T (p.Val144Phe) single nucleotide variant Likely pathogenic rs672601364 GRCh37 Chromosome 2, 241725930: 241725930
45 KIF1A NM_001244008.1(KIF1A): c.305G> A (p.Gly102Asp) single nucleotide variant Likely pathogenic rs672601363 GRCh38 Chromosome 2, 240788109: 240788109
46 KIF1A NM_001244008.1(KIF1A): c.305G> A (p.Gly102Asp) single nucleotide variant Likely pathogenic rs672601363 GRCh37 Chromosome 2, 241727526: 241727526
47 KIF1A NM_001244008.1(KIF1A): c.173C> T (p.Ser58Leu) single nucleotide variant Pathogenic rs672601362 GRCh38 Chromosome 2, 240789246: 240789246
48 KIF1A NM_001244008.1(KIF1A): c.173C> T (p.Ser58Leu) single nucleotide variant Pathogenic rs672601362 GRCh37 Chromosome 2, 241728663: 241728663
49 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic/Likely pathogenic rs786200949 GRCh37 Chromosome 2, 241727625: 241727625
50 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic/Likely pathogenic rs786200949 GRCh38 Chromosome 2, 240788208: 240788208

Expression for Autosomal Dominant Non-Syndromic Intellectual Disability 9

Search GEO for disease gene expression data for Autosomal Dominant Non-Syndromic Intellectual Disability 9.

Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability 9

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 9

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....