MRD9
MCID: ATS390
MIFTS: 11

Autosomal Dominant Non-Syndromic Intellectual Disability 9 (MRD9)

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 73
Mrd9 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070039
UMLS 73 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).

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

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 9

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 530)
# 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 Benign/Likely benign rs116297894 GRCh37 Chromosome 2, 241686737: 241686737
14 KIF1A NM_004321.7(KIF1A): c.2676C> T (p.Ala892=) single nucleotide variant Benign/Likely benign 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 rs786200949 GRCh37 Chromosome 2, 241727625: 241727625
50 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant 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

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