MCID: KT6003
MIFTS: 18

Kat6b-Related Multiple Congenital Anomalies Syndrome

Categories: Rare diseases

Aliases & Classifications for Kat6b-Related Multiple Congenital Anomalies Syndrome

MalaCards integrated aliases for Kat6b-Related Multiple Congenital Anomalies Syndrome:

Name: Kat6b-Related Multiple Congenital Anomalies Syndrome 58
Kat6b-Related Disorders 58 6

Classifications:



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Orphanet 58 ORPHA597749

Summaries for Kat6b-Related Multiple Congenital Anomalies Syndrome

MalaCards based summary : Kat6b-Related Multiple Congenital Anomalies Syndrome, also known as kat6b-related disorders, is related to genitopatellar syndrome and ohdo syndrome, sbbys variant. An important gene associated with Kat6b-Related Multiple Congenital Anomalies Syndrome is DUSP29 (Dual Specificity Phosphatase 29).

Related Diseases for Kat6b-Related Multiple Congenital Anomalies Syndrome

Graphical network of the top 20 diseases related to Kat6b-Related Multiple Congenital Anomalies Syndrome:



Diseases related to Kat6b-Related Multiple Congenital Anomalies Syndrome

Symptoms & Phenotypes for Kat6b-Related Multiple Congenital Anomalies Syndrome

Drugs & Therapeutics for Kat6b-Related Multiple Congenital Anomalies Syndrome

Search Clinical Trials , NIH Clinical Center for Kat6b-Related Multiple Congenital Anomalies Syndrome

Genetic Tests for Kat6b-Related Multiple Congenital Anomalies Syndrome

Anatomical Context for Kat6b-Related Multiple Congenital Anomalies Syndrome

Publications for Kat6b-Related Multiple Congenital Anomalies Syndrome

Articles related to Kat6b-Related Multiple Congenital Anomalies Syndrome:

(show all 29)
# Title Authors PMID Year
1
Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders. 61 6
28696035 2017
2
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. 61 6
22715153 2012
3
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. 6
32424177 2020
4
Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum. 6
30353918 2019
5
Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family. 6
28758091 2017
6
A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome. 6
27696664 2017
7
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 6
26938784 2016
8
A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing. 6
26334766 2015
9
Further delineation of the KAT6B molecular and phenotypic spectrum. 6
25424711 2015
10
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. 6
25937001 2015
11
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 6
25473036 2014
12
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome. 6
23436491 2013
13
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. 6
22265017 2012
14
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. 6
22265014 2012
15
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. 6
22077973 2011
16
Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimaging. 6
21344633 2011
17
A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome. 6
18798845 2008
18
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. 6
16761293 2006
19
Genitopatellar syndrome: expanding the phenotype. 6
12949978 2003
20
Genitopatellar syndrome: delineating the anomalies of female genitalia. 6
12210330 2002
21
Genitopatellar syndrome: a recognizable phenotype. 6
12210329 2002
22
Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth. 6
8055130 1994
23
[The KAT6B-related disorders: Burying Say-Barber-Biesecker-Young-Simpson and genitopatellar syndrome]. 61
33478850 2021
24
KAT6B Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of KAT6B-Related Disorders. 61
32391291 2020
25
Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders. 61
30569622 2019
26
A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders. 61
29226580 2018
27
Cover Image, Volume 173A, Number 10, October 2017. 61
28921853 2017
28
Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion. 61
27880066 2017
29
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. 61
27452416 2017

Variations for Kat6b-Related Multiple Congenital Anomalies Syndrome

ClinVar genetic disease variations for Kat6b-Related Multiple Congenital Anomalies Syndrome:

6 (show top 50) (show all 90)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4405dup (p.Ser1469fs) Duplication Pathogenic 30525 rs199470479 GRCh37: 10:76788986-76788987
GRCh38: 10:75029228-75029229
2 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5370_5373dup (p.Ile1792fs) Duplication Pathogenic 30526 rs199470483 GRCh37: 10:76789950-76789951
GRCh38: 10:75030192-75030193
3 KAT6B NM_012330.4(KAT6B):c.3018del (p.Glu1007fs) Deletion Pathogenic 30527 rs199470468 GRCh37: 10:76781038-76781038
GRCh38: 10:75021280-75021280
4 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4069G>T (p.Glu1357Ter) SNV Pathogenic 30528 rs199470476 GRCh37: 10:76788651-76788651
GRCh38: 10:75028893-75028893
5 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4360_4368delinsAAAAACCAAAA (p.Glu1454fs) Indel Pathogenic 140474 rs199470478 GRCh37: 10:76788942-76788950
GRCh38: 10:75029184-75029192
6 DUSP29 , KAT6B NM_012330.4(KAT6B):c.3788_3789del (p.Lys1263fs) Deletion Pathogenic 140472 rs199470472 GRCh37: 10:76788369-76788370
GRCh38: 10:75028611-75028612
7 DUSP29 , KAT6B NM_012330.4(KAT6B):c.3892G>T (p.Gly1298Ter) SNV Pathogenic 30532 rs199470475 GRCh37: 10:76788474-76788474
GRCh38: 10:75028716-75028716
8 DUSP29 , KAT6B NM_012330.4(KAT6B):c.3802G>T (p.Gly1268Ter) SNV Pathogenic 30533 rs199470473 GRCh37: 10:76788384-76788384
GRCh38: 10:75028626-75028626
9 DUSP29 , KAT6B NM_012330.3(KAT6B):c.3681_3696del16 (p.Asp1227Glufs) Deletion Pathogenic 140470 rs199470469 GRCh37: 10:76788262-76788277
GRCh38: 10:75028504-75028519
10 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5064_5071delinsCACA (p.Met1690fs) Indel Pathogenic 50356 rs387907364 GRCh37: 10:76789646-76789653
GRCh38: 10:75029888-75029895
11 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter) SNV Pathogenic 50357 rs199470484 GRCh37: 10:76789971-76789971
GRCh38: 10:75030213-75030213
12 KAT6B NM_012330.4(KAT6B):c.3664+1G>A SNV Pathogenic 369663 rs1057516033 GRCh37: 10:76785008-76785008
GRCh38: 10:75025250-75025250
13 KAT6B NM_012330.4(KAT6B):c.3216del (p.Glu1073fs) Deletion Pathogenic 438296 rs1554843829 GRCh37: 10:76781832-76781832
GRCh38: 10:75022074-75022074
14 KAT6B NM_012330.4(KAT6B):c.3581del (p.Gln1194fs) Deletion Pathogenic 561036 rs1564628365 GRCh37: 10:76784924-76784924
GRCh38: 10:75025166-75025166
15 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5290C>T (p.Gln1764Ter) SNV Pathogenic 567140 rs1564632652 GRCh37: 10:76789872-76789872
GRCh38: 10:75030114-75030114
16 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5502del (p.Pro1833_Tyr1834insTer) Deletion Pathogenic 647581 rs1589846743 GRCh37: 10:76790084-76790084
GRCh38: 10:75030326-75030326
17 KAT6B NM_012330.4(KAT6B):c.3606_3609del (p.Thr1203fs) Deletion Pathogenic 689768 rs1589832003 GRCh37: 10:76784946-76784949
GRCh38: 10:75025188-75025191
18 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5167dup (p.Gln1723fs) Duplication Pathogenic 637031 rs1589845386 GRCh37: 10:76789746-76789747
GRCh38: 10:75029988-75029989
19 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4861del (p.Ala1621fs) Deletion Pathogenic 802591 rs1589844592 GRCh37: 10:76789443-76789443
GRCh38: 10:75029685-75029685
20 KAT6B NM_012330.4(KAT6B):c.2299C>T (p.His767Tyr) SNV Pathogenic 828179 rs1589750251 GRCh37: 10:76741612-76741612
GRCh38: 10:74981854-74981854
21 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4298_4304delinsTC (p.His1433fs) Indel Pathogenic 830050 rs1589842816 GRCh37: 10:76788880-76788886
GRCh38: 10:75029122-75029128
22 KAT6B NM_012330.4(KAT6B):c.3022-1G>A SNV Pathogenic 931557 GRCh37: 10:76781638-76781638
GRCh38: 10:75021880-75021880
23 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4538dup (p.Lys1514fs) Duplication Pathogenic 958812 GRCh37: 10:76789119-76789120
GRCh38: 10:75029361-75029362
24 KAT6B NM_012330.4(KAT6B):c.2598G>A (p.Arg866=) SNV Pathogenic 976119 GRCh37: 10:76748839-76748839
GRCh38: 10:74989081-74989081
25 KAT6B NM_012330.4(KAT6B):c.847-2A>G SNV Pathogenic 977071 GRCh37: 10:76729776-76729776
GRCh38: 10:74970018-74970018
26 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4584del (p.Glu1529fs) Deletion Pathogenic 488535 rs1554845902 GRCh37: 10:76789164-76789164
GRCh38: 10:75029406-75029406
27 KAT6B NM_012330.4(KAT6B):c.3041_3042del (p.Gln1014fs) Deletion Pathogenic 807617 rs1589824355 GRCh37: 10:76781658-76781659
GRCh38: 10:75021900-75021901
28 KAT6B NM_012330.4(KAT6B):c.3477_3480dup (p.Asp1161delinsLeuTer) Duplication Pathogenic 807618 rs1589831585 GRCh37: 10:76784819-76784820
GRCh38: 10:75025061-75025062
29 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4203_4204CT[1] (p.Ser1402fs) Microsatellite Pathogenic 39001 rs199470477 GRCh37: 10:76788785-76788786
GRCh38: 10:75029027-75029028
30 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4203_4204CT[1] (p.Ser1402fs) Microsatellite Pathogenic 39001 rs199470477 GRCh37: 10:76788785-76788786
GRCh38: 10:75029027-75029028
31 DUSP29 , KAT6B NM_012330.4(KAT6B):c.3765_3768TCTA[1] (p.Lys1258fs) Microsatellite Pathogenic 30530 rs199470470 GRCh37: 10:76788351-76788354
GRCh38: 10:75028589-75028592
32 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs) Duplication Pathogenic 39002 rs199470482 GRCh37: 10:76789773-76789774
GRCh38: 10:75030015-75030016
33 KAT6B NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=) SNV Pathogenic 279815 rs886041207 GRCh37: 10:76781764-76781764
GRCh38: 10:75022006-75022006
34 KAT6B NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter) SNV Pathogenic 523902 rs1554843815 GRCh37: 10:76781789-76781789
GRCh38: 10:75022031-75022031
35 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4203_4204CT[1] (p.Ser1402fs) Microsatellite Pathogenic 39001 rs199470477 GRCh37: 10:76788785-76788786
GRCh38: 10:75029027-75029028
36 KAT6B NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter) SNV Pathogenic 523902 rs1554843815 GRCh37: 10:76781789-76781789
GRCh38: 10:75022031-75022031
37 KAT6B NM_012330.4(KAT6B):c.3428del (p.Ser1143fs) Deletion Pathogenic 1033226 GRCh37: 10:76784771-76784771
GRCh38: 10:75025013-75025013
38 KAT6B NM_012330.4(KAT6B):c.1238T>C (p.Ile413Thr) SNV Likely pathogenic 1033225 GRCh37: 10:76735333-76735333
GRCh38: 10:74975575-74975575
39 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4089_4092del (p.Glu1364fs) Deletion Likely pathogenic 979052 GRCh37: 10:76788671-76788674
GRCh38: 10:75028913-75028916
40 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4993A>G (p.Ser1665Gly) SNV Likely pathogenic 802592 rs1589844927 GRCh37: 10:76789575-76789575
GRCh38: 10:75029817-75029817
41 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4072G>T (p.Glu1358Ter) SNV Likely pathogenic 802590 rs774508465 GRCh37: 10:76788654-76788654
GRCh38: 10:75028896-75028896
42 KAT6B NM_012330.4(KAT6B):c.3256G>T (p.Glu1086Ter) SNV Likely pathogenic 559862 rs751215527 GRCh37: 10:76781873-76781873
GRCh38: 10:75022115-75022115
43 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4554_4555dup (p.Asn1519fs) Duplication Likely pathogenic 559863 rs1554845880 GRCh37: 10:76789134-76789135
GRCh38: 10:75029376-75029377
44 DUSP29 , KAT6B NM_012330.4(KAT6B):c.3962_3963del (p.Gln1321fs) Deletion Likely pathogenic 216946 rs863224883 GRCh37: 10:76788544-76788545
GRCh38: 10:75028786-75028787
45 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5731C>T (p.Gln1911Ter) SNV Uncertain significance 567203 rs1564633281 GRCh37: 10:76790313-76790313
GRCh38: 10:75030555-75030555
46 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5675C>T (p.Pro1892Leu) SNV Uncertain significance 592150 rs1037774698 GRCh37: 10:76790257-76790257
GRCh38: 10:75030499-75030499
47 KAT6B NM_012330.4(KAT6B):c.2116-9A>G SNV Uncertain significance 625964 rs747646395 GRCh37: 10:76738973-76738973
GRCh38: 10:74979215-74979215
48 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5949C>A (p.Asn1983Lys) SNV Uncertain significance 625965 rs745470061 GRCh37: 10:76790531-76790531
GRCh38: 10:75030773-75030773
49 DUSP29 , KAT6B NM_012330.4(KAT6B):c.3962A>T (p.Gln1321Leu) SNV Uncertain significance 642582 rs138030591 GRCh37: 10:76788544-76788544
GRCh38: 10:75028786-75028786
50 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4046A>G (p.Lys1349Arg) SNV Uncertain significance 859762 GRCh37: 10:76788628-76788628
GRCh38: 10:75028870-75028870

Expression for Kat6b-Related Multiple Congenital Anomalies Syndrome

Search GEO for disease gene expression data for Kat6b-Related Multiple Congenital Anomalies Syndrome.

Pathways for Kat6b-Related Multiple Congenital Anomalies Syndrome

GO Terms for Kat6b-Related Multiple Congenital Anomalies Syndrome

Sources for Kat6b-Related Multiple Congenital Anomalies Syndrome

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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