MCID: RRG004
MIFTS: 15

Rare Genetic Syndromic Intellectual Disability

Categories: Rare diseases

Aliases & Classifications for Rare Genetic Syndromic Intellectual Disability

MalaCards integrated aliases for Rare Genetic Syndromic Intellectual Disability:

Name: Rare Genetic Syndromic Intellectual Disability 59

Classifications:



External Ids:

Orphanet 59 ORPHA183763

Summaries for Rare Genetic Syndromic Intellectual Disability

MalaCards based summary : Rare Genetic Syndromic Intellectual Disability is related to alopecia, epilepsy, pyorrhea, mental subnormality and alopecia-intellectual disability syndrome. An important gene associated with Rare Genetic Syndromic Intellectual Disability is KAT6A (Lysine Acetyltransferase 6A), and among its related pathways/superpathways is Regulation of TP53 Activity.

Related Diseases for Rare Genetic Syndromic Intellectual Disability

Graphical network of the top 20 diseases related to Rare Genetic Syndromic Intellectual Disability:



Diseases related to Rare Genetic Syndromic Intellectual Disability

Symptoms & Phenotypes for Rare Genetic Syndromic Intellectual Disability

Drugs & Therapeutics for Rare Genetic Syndromic Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Rare Genetic Syndromic Intellectual Disability

Genetic Tests for Rare Genetic Syndromic Intellectual Disability

Anatomical Context for Rare Genetic Syndromic Intellectual Disability

Publications for Rare Genetic Syndromic Intellectual Disability

Variations for Rare Genetic Syndromic Intellectual Disability

ClinVar genetic disease variations for Rare Genetic Syndromic Intellectual Disability:

6 (show top 50) (show all 145)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KAT6A NM_006766.5(KAT6A): c.3116_3117del (p.Ile1038_Ser1039insTer) deletion Pathogenic rs786200959 8:41795009-41795010 8:41937491-41937492
2 KAT6A NM_006766.5(KAT6A): c.3879dup (p.Glu1294fs) duplication Pathogenic rs786200952 8:41791859-41791859 8:41934341-41934341
3 TAF6 NM_001190415.2(TAF6): c.323T> C (p.Ile108Thr) single nucleotide variant Pathogenic/Likely pathogenic rs374993554 7:99711522-99711522 7:100113899-100113899
4 PTH2R NM_001309516.2(PTH2R): c.140C> T (p.Ser47Phe) single nucleotide variant Likely pathogenic rs1553546045 2:209307150-209307150 2:208442425-208442425
5 PHIP NM_017934.7(PHIP): c.3892C> T (p.Arg1298Ter) single nucleotide variant Likely pathogenic rs759380520 6:79664960-79664960 6:78955243-78955243
6 KANSL1 NM_001193466.2(KANSL1): c.701T> C (p.Val234Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs199948200 17:44248809-44248809 17:46171443-46171443
7 KANSL1 NM_001193466.2(KANSL1): c.2441C> G (p.Thr814Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs757031050 17:44116004-44116004 17:46038638-46038638
8 KANSL1 NM_001193466.2(KANSL1): c.296A> G (p.Gln99Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs754727332 17:44249214-44249214 17:46171848-46171848
9 KANSL1 NM_001193466.2(KANSL1): c.571G> T (p.Gly191Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs149566146 17:44248939-44248939 17:46171573-46171573
10 KANSL1 NM_001193466.2(KANSL1): c.1124C> T (p.Ser375Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142696045 17:44248386-44248386 17:46171020-46171020
11 KANSL1 NM_001193466.2(KANSL1): c.1857G> T (p.Arg619=) single nucleotide variant Conflicting interpretations of pathogenicity rs191986791 17:44128062-44128062 17:46050696-46050696
12 KANSL1 NM_001193466.2(KANSL1): c.2256C> T (p.Asp752=) single nucleotide variant Conflicting interpretations of pathogenicity rs760224197 17:44116529-44116529 17:46039163-46039163
13 KANSL1 NM_001193466.2(KANSL1): c.1831G> A (p.Val611Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs202150313 17:44143920-44143920 17:46066554-46066554
14 KANSL1 NM_001193466.2(KANSL1): c.1940A> G (p.Glu647Gly) single nucleotide variant Uncertain significance rs886053068 17:44127979-44127979 17:46050613-46050613
15 KANSL1 NM_001193466.2(KANSL1): c.2547G> A (p.Gln849=) single nucleotide variant Uncertain significance rs763362339 17:44111646-44111646 17:46034280-46034280
16 KANSL1 NM_001193466.2(KANSL1): c.*816C> T single nucleotide variant Uncertain significance rs886053065 17:44108026-44108026 17:46030660-46030660
17 KANSL1 NM_001193466.2(KANSL1): c.*637T> G single nucleotide variant Uncertain significance rs886053066 17:44108205-44108205 17:46030839-46030839
18 KANSL1 NM_001193466.2(KANSL1): c.3091-15C> A single nucleotide variant Uncertain significance rs565665710 17:44109084-44109084 17:46031718-46031718
19 KANSL1 NM_001193466.2(KANSL1): c.-279G> A single nucleotide variant Uncertain significance rs886053071 17:44269974-44269974 17:46192608-46192608
20 KANSL1 NM_001193466.2(KANSL1): c.608G> A (p.Gly203Glu) single nucleotide variant Uncertain significance rs759522694 17:44248902-44248902 17:46171536-46171536
21 KANSL1 NM_001193466.2(KANSL1): c.*1433A> G single nucleotide variant Uncertain significance rs886053060 17:44107409-44107409 17:46030043-46030043
22 KANSL1 NM_001193466.2(KANSL1): c.*1354dup duplication Uncertain significance rs67641084 17:44107488-44107488 17:46030122-46030122
23 KANSL1 NM_001193466.2(KANSL1): c.*1287G> T single nucleotide variant Uncertain significance rs886053064 17:44107555-44107555 17:46030189-46030189
24 KANSL1 NM_001193466.2(KANSL1): c.*1551del deletion Uncertain significance rs767830420 17:44107291-44107291 17:46029925-46029925
25 KANSL1 NM_001193466.2(KANSL1): c.*28_*31ACTA[1] short repeat Uncertain significance rs767896466 17:44108807-44108810 17:46031441-46031444
26 KANSL1 NM_001193466.2(KANSL1): c.1676A> G (p.His559Arg) single nucleotide variant Uncertain significance rs886053069 17:44144075-44144075 17:46066709-46066709
27 KANSL1 NM_001193466.2(KANSL1): c.1432-4G> A single nucleotide variant Uncertain significance rs749329088 17:44159912-44159912 17:46082546-46082546
28 KANSL1 NM_001193466.2(KANSL1): c.*608C> G single nucleotide variant Uncertain significance rs886053067 17:44108234-44108234 17:46030868-46030868
29 KANSL1 NM_001193466.2(KANSL1): c.431G> A (p.Ser144Asn) single nucleotide variant Uncertain significance rs886053070 17:44249079-44249079 17:46171713-46171713
30 KANSL1 NM_001193466.2(KANSL1): c.*1434T> C single nucleotide variant Uncertain significance rs886053059 17:44107408-44107408 17:46030042-46030042
31 KANSL1 NM_001193466.2(KANSL1): c.*1350A> C single nucleotide variant Uncertain significance rs886053062 17:44107492-44107492 17:46030126-46030126
32 KANSL1 NM_001193466.2(KANSL1): c.*1306C> G single nucleotide variant Uncertain significance rs886053063 17:44107536-44107536 17:46030170-46030170
33 KANSL1 NM_001193466.2(KANSL1): c.*1234_*1235dup duplication Uncertain significance rs140510364 17:44107607-44107608 17:46030241-46030242
34 KANSL1 NM_001193466.2(KANSL1): c.*1022C> G single nucleotide variant Uncertain significance rs748062988 17:44107820-44107820 17:46030454-46030454
35 KANSL1 NM_001193466.2(KANSL1): c.*954C> G single nucleotide variant Uncertain significance rs150500194 17:44107888-44107888 17:46030522-46030522
36 KANSL1 NM_001193466.2(KANSL1): c.*1103dup duplication Uncertain significance rs142756815 17:44107739-44107739 17:46030373-46030373
37 KANSL1 NM_001193466.2(KANSL1): c.1945C> G (p.His649Asp) single nucleotide variant Uncertain significance rs759914921 17:44127974-44127974 17:46050608-46050608
38 KANSL1 NM_001193466.2(KANSL1): c.1653-6G> A single nucleotide variant Uncertain significance rs369261388 17:44144104-44144104 17:46066738-46066738
39 KANSL1 NM_001193466.2(KANSL1): c.1166C> T (p.Ala389Val) single nucleotide variant Uncertain significance rs368394693 17:44248344-44248344 17:46170978-46170978
40 KANSL1 NM_001193466.2(KANSL1): c.611G> T (p.Gly204Val) single nucleotide variant Uncertain significance rs766643723 17:44248899-44248899 17:46171533-46171533
41 KANSL1 NM_001193466.2(KANSL1): c.2287G> T (p.Val763Leu) single nucleotide variant Uncertain significance rs781594360 17:44116498-44116498 17:46039132-46039132
42 KANSL1 NM_001193466.2(KANSL1): c.1162A> G (p.Ile388Val) single nucleotide variant Uncertain significance rs767398590 17:44248348-44248348 17:46170982-46170982
43 KANSL1 NM_015443.3(KANSL1): c.-90+19C> G single nucleotide variant Uncertain significance rs1057516026 17:44270170-44270170 17:46192804-46192804
44 KANSL1 NM_001193466.2(KANSL1): c.*1520dup duplication Uncertain significance rs67801660 17:44107322-44107322 17:46029956-46029956
45 KANSL1 ; MAPT NM_016835.4(MAPT): c.*3810G> A single nucleotide variant Likely benign rs140613804 17:44105347-44105347 17:46027981-46027981
46 KANSL1 ; MAPT NM_016835.4(MAPT): c.*1465C> T single nucleotide variant Likely benign rs189665411 17:44103002-44103002 17:46025636-46025636
47 KANSL1 ; MAPT NM_001193466.2(KANSL1): c.*217C> T single nucleotide variant Likely benign rs140200874 17:44108625-44108625 17:46031259-46031259
48 KANSL1 ; MAPT NM_001193466.2(KANSL1): c.*1028T> C single nucleotide variant Likely benign rs375427074 17:44107814-44107814 17:46030448-46030448
49 KANSL1 ; MAPT NM_001193466.2(KANSL1): c.*34_*37del deletion Likely benign rs373668834 17:44108805-44108808 17:46031439-46031442
50 KANSL1 ; MAPT NM_001193466.2(KANSL1): c.*626T> C single nucleotide variant Likely benign rs533537317 17:44108216-44108216 17:46030850-46030850

Expression for Rare Genetic Syndromic Intellectual Disability

Search GEO for disease gene expression data for Rare Genetic Syndromic Intellectual Disability.

Pathways for Rare Genetic Syndromic Intellectual Disability

Pathways related to Rare Genetic Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.44 TAF6 KAT6A

GO Terms for Rare Genetic Syndromic Intellectual Disability

Biological processes related to Rare Genetic Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 8.96 TAF6 KAT6A
2 regulation of signal transduction by p53 class mediator GO:1901796 8.62 TAF6 KAT6A

Sources for Rare Genetic Syndromic Intellectual Disability

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