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 58

Classifications:



External Ids:

Orphanet 58 ORPHA183763

Summaries for Rare Genetic Syndromic Intellectual Disability

MalaCards based summary : Rare Genetic Syndromic Intellectual Disability is related to alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality and mental retardation syndrome, belgian type. 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:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KAT6A NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer)deletion Pathogenic 162616 rs786200959 8:41795009-41795010 8:41937491-41937492
2 KAT6A NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs)duplication Pathogenic 180678 rs786200952 8:41791858-41791859 8:41934340-41934341
3 TAF6 NM_139315.3(TAF6):c.212T>C (p.Ile71Thr)SNV Pathogenic/Likely pathogenic 180204 rs374993554 7:99711522-99711522 7:100113899-100113899
4 PTH2R NM_001309516.2(PTH2R):c.140C>T (p.Ser47Phe)SNV Likely pathogenic 428590 rs1553546045 2:209307150-209307150 2:208442425-208442425
5 PHIP NM_017934.7(PHIP):c.3892C>T (p.Arg1298Ter)SNV Likely pathogenic 431155 rs759380520 6:79664960-79664960 6:78955243-78955243
6 FAM160B1 NM_020940.4(FAM160B1):c.115G>T (p.Glu39Ter)SNV Likely pathogenic 633777 10:116590680-116590680 10:114830921-114830921
7 KANSL1 NM_001193466.2(KANSL1):c.701T>C (p.Val234Ala)SNV Conflicting interpretations of pathogenicity 323788 rs199948200 17:44248809-44248809 17:46171443-46171443
8 KANSL1 NM_001193466.2(KANSL1):c.2256C>T (p.Asp752=)SNV Conflicting interpretations of pathogenicity 323773 rs760224197 17:44116529-44116529 17:46039163-46039163
9 KANSL1 NM_001193466.2(KANSL1):c.1831G>A (p.Val611Ile)SNV Conflicting interpretations of pathogenicity 323778 rs202150313 17:44143920-44143920 17:46066554-46066554
10 KANSL1 NM_001193466.2(KANSL1):c.1857G>T (p.Arg619=)SNV Conflicting interpretations of pathogenicity 205737 rs191986791 17:44128062-44128062 17:46050696-46050696
11 KANSL1 NM_001193466.2(KANSL1):c.1124C>T (p.Ser375Leu)SNV Conflicting interpretations of pathogenicity 205782 rs142696045 17:44248386-44248386 17:46171020-46171020
12 KANSL1 NM_001193466.2(KANSL1):c.571G>T (p.Gly191Cys)SNV Conflicting interpretations of pathogenicity 205770 rs149566146 17:44248939-44248939 17:46171573-46171573
13 KANSL1 NM_001193466.2(KANSL1):c.296A>G (p.Gln99Arg)SNV Conflicting interpretations of pathogenicity 205766 rs754727332 17:44249214-44249214 17:46171848-46171848
14 KANSL1 NM_001193466.2(KANSL1):c.2441C>G (p.Thr814Ser)SNV Conflicting interpretations of pathogenicity 323770 rs757031050 17:44116004-44116004 17:46038638-46038638
15 KANSL1 NM_001193466.2(KANSL1):c.431G>A (p.Ser144Asn)SNV Uncertain significance 323795 rs886053070 17:44249079-44249079 17:46171713-46171713
16 KANSL1 NM_001193466.2(KANSL1):c.*1520dupduplication Uncertain significance 323731 rs67801660 17:44107321-44107322 17:46029955-46029956
17 KANSL1 NM_001193466.2(KANSL1):c.1945C>G (p.His649Asp)SNV Uncertain significance 323776 rs759914921 17:44127974-44127974 17:46050608-46050608
18 KANSL1 NM_001193466.2(KANSL1):c.1653-6G>ASNV Uncertain significance 323780 rs369261388 17:44144104-44144104 17:46066738-46066738
19 KANSL1 NM_001193466.2(KANSL1):c.1166C>T (p.Ala389Val)SNV Uncertain significance 323783 rs368394693 17:44248344-44248344 17:46170978-46170978
20 KANSL1 NM_001193466.2(KANSL1):c.*1287G>TSNV Uncertain significance 323740 rs886053064 17:44107555-44107555 17:46030189-46030189
21 KANSL1 NM_001193466.2(KANSL1):c.*1551deldeletion Uncertain significance 323730 rs767830420 17:44107291-44107291 17:46029925-46029925
22 KANSL1 NM_001193466.2(KANSL1):c.*28_*31ACTA[1]short repeat Uncertain significance 323761 rs767896466 17:44108807-44108810 17:46031441-46031444
23 KANSL1 NM_001193466.2(KANSL1):c.*1350A>CSNV Uncertain significance 323737 rs886053062 17:44107492-44107492 17:46030126-46030126
24 KANSL1 NM_001193466.2(KANSL1):c.*1306C>GSNV Uncertain significance 323739 rs886053063 17:44107536-44107536 17:46030170-46030170
25 KANSL1 NM_001193466.2(KANSL1):c.*1234_*1235dupduplication Uncertain significance 323742 rs140510364 17:44107606-44107607 17:46030240-46030241
26 KANSL1 NM_001193466.2(KANSL1):c.*1103dupduplication Uncertain significance 323744 rs142756815 17:44107738-44107739 17:46030372-46030373
27 KANSL1 NM_001193466.2(KANSL1):c.*1022C>GSNV Uncertain significance 323747 rs748062988 17:44107820-44107820 17:46030454-46030454
28 KANSL1 NM_001193466.2(KANSL1):c.*954C>GSNV Uncertain significance 323748 rs150500194 17:44107888-44107888 17:46030522-46030522
29 KANSL1 NM_001193466.2(KANSL1):c.*637T>GSNV Uncertain significance 323753 rs886053066 17:44108205-44108205 17:46030839-46030839
30 KANSL1 NM_001193466.2(KANSL1):c.3091-15C>ASNV Uncertain significance 323763 rs565665710 17:44109084-44109084 17:46031718-46031718
31 KANSL1 NM_001193466.2(KANSL1):c.2547G>A (p.Gln849=)SNV Uncertain significance 323768 rs763362339 17:44111646-44111646 17:46034280-46034280
32 KANSL1 NM_001193466.2(KANSL1):c.608G>A (p.Gly203Glu)SNV Uncertain significance 323793 rs759522694 17:44248902-44248902 17:46171536-46171536
33 KANSL1 NM_001193466.2(KANSL1):c.*1433A>GSNV Uncertain significance 323734 rs886053060 17:44107409-44107409 17:46030043-46030043
34 KANSL1 NM_001193466.2(KANSL1):c.*1354dupduplication Uncertain significance 323735 rs67641084 17:44107487-44107488 17:46030121-46030122
35 KANSL1 NM_001193466.2(KANSL1):c.*816C>TSNV Uncertain significance 323750 rs886053065 17:44108026-44108026 17:46030660-46030660
36 KANSL1 NM_001193466.2(KANSL1):c.-279G>ASNV Uncertain significance 323806 rs886053071 17:44269974-44269974 17:46192608-46192608
37 KANSL1 NM_001193466.2(KANSL1):c.1676A>G (p.His559Arg)SNV Uncertain significance 323779 rs886053069 17:44144075-44144075 17:46066709-46066709
38 KANSL1 NM_001193466.2(KANSL1):c.1432-4G>ASNV Uncertain significance 323782 rs749329088 17:44159912-44159912 17:46082546-46082546
39 KANSL1 NM_001193466.2(KANSL1):c.*1434T>CSNV Uncertain significance 323733 rs886053059 17:44107408-44107408 17:46030042-46030042
40 KANSL1 NM_001193466.2(KANSL1):c.*608C>GSNV Uncertain significance 323755 rs886053067 17:44108234-44108234 17:46030868-46030868
41 KANSL1 NM_001193466.2(KANSL1):c.611G>T (p.Gly204Val)SNV Uncertain significance 323792 rs766643723 17:44248899-44248899 17:46171533-46171533
42 KANSL1 NM_001193466.2(KANSL1):c.1940A>G (p.Glu647Gly)SNV Uncertain significance 323777 rs886053068 17:44127979-44127979 17:46050613-46050613
43 KANSL1 NM_001193466.2(KANSL1):c.2287G>T (p.Val763Leu)SNV Uncertain significance 323772 rs781594360 17:44116498-44116498 17:46039132-46039132
44 KANSL1 NM_001193466.2(KANSL1):c.1162A>G (p.Ile388Val)SNV Uncertain significance 323784 rs767398590 17:44248348-44248348 17:46170982-46170982
45 KANSL1 NM_015443.3(KANSL1):c.-90+19C>GSNV Uncertain significance 369214 rs1057516026 17:44270170-44270170 17:46192804-46192804
46 KANSL1 , MAPT NM_001193466.2(KANSL1):c.*388G>TSNV Likely benign 323757 rs367998611 17:44108454-44108454 17:46031088-46031088
47 KANSL1 , MAPT NM_001193466.2(KANSL1):c.*217C>TSNV Likely benign 323759 rs140200874 17:44108625-44108625 17:46031259-46031259
48 KANSL1 , MAPT NM_001193466.2(KANSL1):c.*1027C>GSNV Likely benign 323746 rs11870461 17:44107815-44107815 17:46030449-46030449
49 KANSL1 , MAPT NM_016835.4(MAPT):c.*2956T>CSNV Likely benign 323709 rs181844055 17:44104493-44104493 17:46027127-46027127
50 KANSL1 , MAPT NM_016835.4(MAPT):c.*3435T>CSNV Likely benign 323721 rs186977284 17:44104972-44104972 17:46027606-46027606

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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