MCID: KBG001
MIFTS: 52

Kbg Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Oral diseases, Bone diseases, Mental diseases

Aliases & Classifications for Kbg Syndrome

MalaCards integrated aliases for Kbg Syndrome:

Name: Kbg Syndrome 57 12 24 53 25 59 75 29 13 6 44 15 73
Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, and Skeletal Anomalies 57 25
Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, and Skeletal Anomalies 53 25
Kbgs 57 75
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome 25
Macrodontia Mental Retardation Characteristic Facies Short Stature and Skeletal Anomalies 75
Short Stature-Facial and Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome 59
Syndrome, Kbg 40

Characteristics:

Orphanet epidemiological data:

59
kbg syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
male to female ratio 21:8


HPO:

32
kbg syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Kbg Syndrome

NIH Rare Diseases : 53 KBG syndrome is a rare condition characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability. Specific signs and symptoms may include delayed bone age; abnormalities of the bones of the spine, ribs, and/or hands; large teeth (macrodontia); short stature; developmental delay; and behavioral or emotional issues. Less common features may include hearing loss, seizures, and congenital heart defects. In some cases, KBG syndrome is caused by a mutation in the ANKRD11 gene and is inherited in an autosomal dominant manner. In other cases, the genetic cause is unclear. Some affected people inherit the condition from a parent, while in other people it occurs sporadically.

MalaCards based summary : Kbg Syndrome, also known as macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies, is related to 16q24.3 microdeletion syndrome and wiedemann-steiner syndrome. An important gene associated with Kbg Syndrome is ANKRD11 (Ankyrin Repeat Domain 11), and among its related pathways/superpathways are Chromatin organization and Mitotic Metaphase and Anaphase. Affiliated tissues include bone, heart and eye, and related phenotypes are cryptorchidism and microcephaly

OMIM : 57 KBG syndrome is characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability (summary by Sirmaci et al., 2011). Sirmaci et al. (2011) noted that it is likely that KBG syndrome is underdiagnosed, since many of the features, including intellectual disability, are mild, and none of the features is a prerequisite for diagnosis. (148050)

UniProtKB/Swiss-Prot : 75 KBG syndrome: A syndrome characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability.

Genetics Home Reference : 25 KBG syndrome is a rare disorder that affects several body systems. "KBG" represents the surname initials of the first families diagnosed with the disorder. Common signs and symptoms in individuals with this condition include unusual facial features, skeletal abnormalities, and intellectual disability.

Disease Ontology : 12 A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton.

Wikipedia : 76 KBG syndrome is a genetic disease that is the result of a mutation in the ANKRD11 gene. Features include... more...

GeneReviews: NBK487886

Related Diseases for Kbg Syndrome

Graphical network of the top 20 diseases related to Kbg Syndrome:



Diseases related to Kbg Syndrome

Symptoms & Phenotypes for Kbg Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
telecanthus
long palpebral fissures
broad bushy eyebrows

Head And Neck Head:
microcephaly

Head And Neck Face:
long philtrum
round face early in life
triangular face later in life

Skin Nails Hair Hair:
low posterior hairline
low anterior hairline
broad bushy eyebrows

Head And Neck Teeth:
oligodontia
macrodontia
wide upper central incisors
ridged teeth
fused incisors

Head And Neck Ears:
large prominent ears

Chest Ribs Sternum Clavicles And Scapulae:
cervical rib fusion
accessory cervical ribs

Skin Nails Hair Skin:
simian crease

Skeletal Hands:
clinodactyly
syndactyly
decreased hand length

Head And Neck Nose:
anteverted nares
hypoplastic alae nasi

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Skeletal Spine:
thoracic kyphosis
vertebral body fusion
vertebral arch abnormalities

Neurologic Central Nervous System:
developmental delay
mental retardation
seizures (in some patients)
eeg anomalies (in some patients)

Growth Height:
short stature (less than tenth percentile)

Skeletal:
delayed bone maturation


Clinical features from OMIM:

148050

Human phenotypes related to Kbg Syndrome:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 microcephaly 32 HP:0000252
3 low anterior hairline 32 HP:0000294
4 round face 32 HP:0000311
5 hypertelorism 32 HP:0000316
6 triangular face 32 HP:0000325
7 long philtrum 32 HP:0000343
8 macrotia 32 HP:0000400
9 underdeveloped nasal alae 32 HP:0000430
10 anteverted nares 32 HP:0000463
11 telecanthus 32 HP:0000506
12 thick eyebrow 32 HP:0000574
13 long palpebral fissure 32 HP:0000637
14 oligodontia 32 HP:0000677
15 cervical ribs 32 HP:0000891
16 rib fusion 32 HP:0000902
17 single transverse palmar crease 32 HP:0000954
18 syndactyly 32 HP:0001159
19 intellectual disability 32 HP:0001249
20 seizures 32 occasional (7.5%) HP:0001250
21 global developmental delay 32 HP:0001263
22 widely-spaced maxillary central incisors 32 HP:0001566
23 macrodontia 32 HP:0001572
24 low posterior hairline 32 HP:0002162
25 delayed skeletal maturation 32 HP:0002750
26 thoracic kyphosis 32 HP:0002942
27 vertebral fusion 32 HP:0002948
28 short stature 32 HP:0004322
29 vertebral arch anomaly 32 HP:0008438
30 radial deviation of finger 32 HP:0009466
31 clinodactyly 32 HP:0030084

MGI Mouse Phenotypes related to Kbg Syndrome:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.35 SMARCB1 SMC3 SPG7 ZFPM1 ANKRD11 DNMT1
2 cellular MP:0005384 10.34 DNMT1 ESPL1 HDAC8 IGF1R KDM1A KDM6A
3 embryo MP:0005380 10.27 SMARCB1 ZFPM1 ANKRD11 DNMT1 ESPL1 HDAC8
4 behavior/neurological MP:0005386 10.25 KDM1A KMT2D MECP2 NIPBL NTRK2 SMARCB1
5 immune system MP:0005387 10.25 ANKRD11 DNMT1 ESPL1 IGF1R KDM1A KDM6A
6 mortality/aging MP:0010768 10.22 ANKRD11 DNMT1 ESPL1 HDAC8 IGF1R KDM1A
7 hematopoietic system MP:0005397 10.21 ANKRD11 DNMT1 ESPL1 IGF1R KDM1A KDM6A
8 cardiovascular system MP:0005385 10.19 HDAC8 IGF1R KDM1A KDM6A KMT2D MECP2
9 craniofacial MP:0005382 10.11 ANKRD11 HDAC8 IGF1R KDM6A KMT2D MECP2
10 adipose tissue MP:0005375 10.03 IGF1R KMT2D MECP2 NIPBL NTRK2 SMC3
11 nervous system MP:0003631 10.03 HDAC8 IGF1R KDM1A KDM6A KMT2D MECP2
12 hearing/vestibular/ear MP:0005377 9.93 ANKRD11 IGF1R KMT2D MECP2 NIPBL NTRK2
13 liver/biliary system MP:0005370 9.91 SMARCB1 ZFPM1 ESPL1 IGF1R KDM1A MECP2
14 normal MP:0002873 9.76 CDH15 DNMT1 HDAC8 KDM6A MECP2 NIPBL
15 reproductive system MP:0005389 9.56 DNMT1 ESPL1 IGF1R KDM6A MECP2 NTRK2
16 skeleton MP:0005390 9.36 SPG7 ANKRD11 HDAC8 IGF1R KDM1A KDM6A

Drugs & Therapeutics for Kbg Syndrome

Search Clinical Trials , NIH Clinical Center for Kbg Syndrome

Cochrane evidence based reviews: kbg syndrome

Genetic Tests for Kbg Syndrome

Genetic tests related to Kbg Syndrome:

# Genetic test Affiliating Genes
1 Kbg Syndrome 29 ANKRD11

Anatomical Context for Kbg Syndrome

MalaCards organs/tissues related to Kbg Syndrome:

41
Bone, Heart, Eye

Publications for Kbg Syndrome

Articles related to Kbg Syndrome:

(show all 50)
# Title Authors Year
1
Needle breakage during an inferior alveolar nerve block in a child with KBG syndrome: A case report. ( 29589253 )
2018
2
KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition? ( 29696793 )
2018
3
The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder. ( 29375862 )
2018
4
Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study. ( 29311865 )
2017
5
KBG syndrome: An Australian experience. ( 28449295 )
2017
6
A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. ( 28566769 )
2017
7
KBG syndrome. ( 29258554 )
2017
8
Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature. ( 29224748 )
2017
9
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. ( 28250421 )
2017
10
KBG syndrome: 16q24.3 microdeletion in an Indian patient. ( 28099180 )
2017
11
A splice-site variant in ANKRD11 associated with classical KBG syndrome. ( 28815928 )
2017
12
KBG syndrome involving a single-nucleotide duplication in ANKRD11. ( 27900361 )
2016
13
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. ( 27605097 )
2016
14
Clinical and genetic aspects of KBG syndrome. ( 27667800 )
2016
15
Further delineation of the KBG syndrome caused by ANKRD11 aberrations. ( 26269249 )
2015
16
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. ( 25413698 )
2015
17
Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment. ( 25833229 )
2015
18
A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion. ( 25464108 )
2015
19
An unusual case of KBG syndrome with unique oral findings. ( 26187867 )
2015
20
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome. ( 25838844 )
2015
21
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. ( 24838796 )
2014
22
A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome. ( 25187894 )
2014
23
Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene. ( 25543316 )
2014
24
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. ( 25424714 )
2014
25
A Chinese patient with KBG syndrome and a 9q31.2-33.1 microdeletion. ( 23369839 )
2013
26
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. ( 23184435 )
2013
27
A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome. ( 23463723 )
2013
28
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. ( 21782149 )
2011
29
KBG syndrome: clinical features and specific dental findings. ( 21070713 )
2010
30
KBG syndrome associated with periventricular nodular heterotopia. ( 20354438 )
2010
31
Twins with KBG syndrome and autism. ( 19597979 )
2009
32
Aortic valve regurgitation in a patient affected by KBG syndrome. ( 19301564 )
2009
33
KBG syndrome: review of the literature and findings of 5 affected patients. ( 19716495 )
2009
34
The KBG syndrome: Case report. ( 18822138 )
2008
35
KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria. ( 17230487 )
2007
36
KBG syndrome. ( 17163996 )
2006
37
Eight isolated cases of KBG syndrome: a new hypothesis of study. ( 15850144 )
2005
38
Clinical variability in KBG syndrome: report of three unrelated families. ( 15384099 )
2004
39
KBG syndrome in a cohort of Italian patients. ( 15523620 )
2004
40
The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype. ( 15378538 )
2004
41
The KBG syndrome, characteristic dental findings: a case report. ( 11310136 )
2001
42
The KBG syndrome. ( 10826617 )
2000
43
The KBG syndrome: an additional sporadic case. ( 10756425 )
2000
44
Further delineation of the KBG syndrome. ( 9777340 )
1998
45
Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome. ( 9001820 )
1996
46
The KBG syndrome: follow-up data on three affected brothers. ( 7834892 )
1994
47
Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria. ( 7810561 )
1994
48
KBG Syndrome ( 29565525 )
1993
49
Mental retardation, short stature, minor skeletal anomalies, craniofacial dysmorphism and macrodontia in two sisters and their mother. Another variant example of the KBG syndrome? ( 6467660 )
1984
50
The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. ( 1218237 )
1975

Variations for Kbg Syndrome

ClinVar genetic disease variations for Kbg Syndrome:

6
(show top 50) (show all 63)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANKRD11 NM_001256182.1(ANKRD11): c.7570_7575delGAGAAG single nucleotide variant Pathogenic rs863223319 GRCh37 Chromosome 16, 89341366: 89341366
2 ANKRD11 NM_001256182.1(ANKRD11): c.7570_7575delGAGAAG single nucleotide variant Pathogenic rs863223319 GRCh38 Chromosome 16, 89274958: 89274958
3 ANKRD11 NM_001256182.1(ANKRD11): c.2305delT (p.Ser769Glnfs) deletion Pathogenic rs863223320 GRCh38 Chromosome 16, 89284237: 89284237
4 ANKRD11 NM_001256182.1(ANKRD11): c.2305delT (p.Ser769Glnfs) deletion Pathogenic rs863223320 GRCh37 Chromosome 16, 89350645: 89350645
5 ANKRD11 NM_001256182.1(ANKRD11): c.5953_5954delCA (p.Gln1985Glufs) deletion Pathogenic rs863223321 GRCh37 Chromosome 16, 89346996: 89346997
6 ANKRD11 NM_001256182.1(ANKRD11): c.5953_5954delCA (p.Gln1985Glufs) deletion Pathogenic rs863223321 GRCh38 Chromosome 16, 89280588: 89280589
7 ANKRD11 NM_013275.5(ANKRD11): c.2398_2401delGAAA (p.Glu800Asnfs) deletion Pathogenic rs797045027 GRCh37 Chromosome 16, 89350549: 89350552
8 ANKRD11 NM_013275.5(ANKRD11): c.2398_2401delGAAA (p.Glu800Asnfs) deletion Pathogenic rs797045027 GRCh38 Chromosome 16, 89284141: 89284144
9 ANKRD11 NM_001256182.1(ANKRD11): c.6210_6211delGT (p.Lys2070Asnfs) deletion Pathogenic rs863225257 GRCh37 Chromosome 16, 89346739: 89346740
10 ANKRD11 NM_001256182.1(ANKRD11): c.6210_6211delGT (p.Lys2070Asnfs) deletion Pathogenic rs863225257 GRCh38 Chromosome 16, 89280331: 89280332
11 ANKRD11 NM_001256182.1(ANKRD11): c.7180C> T (p.Gln2394Ter) single nucleotide variant Pathogenic rs863225296 GRCh37 Chromosome 16, 89345770: 89345770
12 ANKRD11 NM_001256182.1(ANKRD11): c.7180C> T (p.Gln2394Ter) single nucleotide variant Pathogenic rs863225296 GRCh38 Chromosome 16, 89279362: 89279362
13 ANKRD11 NM_001256182.1(ANKRD11): c.6472G> T (p.Glu2158Ter) single nucleotide variant Pathogenic rs869312713 GRCh37 Chromosome 16, 89346478: 89346478
14 ANKRD11 NM_001256182.1(ANKRD11): c.6472G> T (p.Glu2158Ter) single nucleotide variant Pathogenic rs869312713 GRCh38 Chromosome 16, 89280070: 89280070
15 ANKRD11 NM_001256182.1(ANKRD11): c.6786delC (p.Ala2265Profs) deletion Pathogenic rs878855327 GRCh37 Chromosome 16, 89346164: 89346164
16 ANKRD11 NM_001256182.1(ANKRD11): c.6786delC (p.Ala2265Profs) deletion Pathogenic rs878855327 GRCh38 Chromosome 16, 89279756: 89279756
17 ANKRD11 NM_001256182.1(ANKRD11): c.6015dupA (p.Gly2006Argfs) duplication Pathogenic rs879253753 GRCh37 Chromosome 16, 89346935: 89346935
18 ANKRD11 NM_001256182.1(ANKRD11): c.6015dupA (p.Gly2006Argfs) duplication Pathogenic rs879253753 GRCh38 Chromosome 16, 89280527: 89280527
19 ANKRD11 NM_001256182: c.7545delG undetermined variant Pathogenic
20 ANKRD11 NM_013275.5(ANKRD11): c.2175_2178delCAAA (p.Asn725Lysfs) deletion Pathogenic/Likely pathogenic rs886039734 GRCh37 Chromosome 16, 89350772: 89350775
21 ANKRD11 NM_013275.5(ANKRD11): c.2175_2178delCAAA (p.Asn725Lysfs) deletion Pathogenic/Likely pathogenic rs886039734 GRCh38 Chromosome 16, 89284364: 89284367
22 ANKRD11 NM_013275.5(ANKRD11): c.2408_2412delAAAAA (p.Lys803Argfs) deletion Pathogenic rs886039902 GRCh38 Chromosome 16, 89284130: 89284134
23 ANKRD11 NM_013275.5(ANKRD11): c.2408_2412delAAAAA (p.Lys803Argfs) deletion Pathogenic rs886039902 GRCh37 Chromosome 16, 89350538: 89350542
24 ANKRD11 NM_013275.5(ANKRD11): c.1903_1907delAAACA (p.Lys635Glnfs) deletion Pathogenic/Likely pathogenic rs886041125 GRCh37 Chromosome 16, 89351043: 89351047
25 ANKRD11 NM_013275.5(ANKRD11): c.1903_1907delAAACA (p.Lys635Glnfs) deletion Pathogenic/Likely pathogenic rs886041125 GRCh38 Chromosome 16, 89284635: 89284639
26 ANKRD11 NM_013275.5(ANKRD11): c.3562C> T (p.Arg1188Ter) single nucleotide variant Pathogenic rs761848111 GRCh37 Chromosome 16, 89349388: 89349388
27 ANKRD11 NM_013275.5(ANKRD11): c.3562C> T (p.Arg1188Ter) single nucleotide variant Pathogenic rs761848111 GRCh38 Chromosome 16, 89282980: 89282980
28 ANKRD11 NM_013275.5(ANKRD11): c.2197C> T (p.Arg733Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886041791 GRCh38 Chromosome 16, 89284345: 89284345
29 ANKRD11 NM_013275.5(ANKRD11): c.2197C> T (p.Arg733Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886041791 GRCh37 Chromosome 16, 89350753: 89350753
30 ANKRD11 NM_013275.5(ANKRD11): c.3122C> A (p.Ser1041Ter) single nucleotide variant Pathogenic rs1057518663 GRCh38 Chromosome 16, 89283420: 89283420
31 ANKRD11 NM_013275.5(ANKRD11): c.3122C> A (p.Ser1041Ter) single nucleotide variant Pathogenic rs1057518663 GRCh37 Chromosome 16, 89349828: 89349828
32 ANKRD11 NM_001256182.1(ANKRD11): c.7751C> A (p.Ala2584Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 16, 89337280: 89337280
33 ANKRD11 NM_001256182.1(ANKRD11): c.7751C> A (p.Ala2584Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 16, 89270872: 89270872
34 ANKRD11 NM_001256182.1(ANKRD11): c.6212C> G (p.Ser2071Ter) single nucleotide variant Pathogenic rs763407068 GRCh37 Chromosome 16, 89346738: 89346738
35 ANKRD11 NM_001256182.1(ANKRD11): c.6212C> G (p.Ser2071Ter) single nucleotide variant Pathogenic rs763407068 GRCh38 Chromosome 16, 89280330: 89280330
36 ANKRD11 NM_001256182.1(ANKRD11): c.5504delT (p.Leu1835Argfs) deletion Pathogenic rs1057519399 GRCh37 Chromosome 16, 89347446: 89347446
37 ANKRD11 NM_001256182.1(ANKRD11): c.5504delT (p.Leu1835Argfs) deletion Pathogenic rs1057519399 GRCh38 Chromosome 16, 89281038: 89281038
38 ANKRD11 NM_013275.5(ANKRD11): c.541G> A (p.Ala181Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs777123332 GRCh37 Chromosome 16, 89357093: 89357093
39 ANKRD11 NM_013275.5(ANKRD11): c.541G> A (p.Ala181Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs777123332 GRCh38 Chromosome 16, 89290685: 89290685
40 ANKRD11 NM_001256182.1(ANKRD11): c.6786_6787insA (p.Pro2263Thrfs) insertion Pathogenic rs1135401815 GRCh37 Chromosome 16, 89346163: 89346164
41 ANKRD11 NM_001256182.1(ANKRD11): c.6786_6787insA (p.Pro2263Thrfs) insertion Pathogenic rs1135401815 GRCh38 Chromosome 16, 89279755: 89279756
42 ANKRD11 NM_001256182.1(ANKRD11): c.2647G> T (p.Glu883Ter) single nucleotide variant Pathogenic rs1135401804 GRCh37 Chromosome 16, 89350303: 89350303
43 ANKRD11 NM_001256182.1(ANKRD11): c.2647G> T (p.Glu883Ter) single nucleotide variant Pathogenic rs1135401804 GRCh38 Chromosome 16, 89283895: 89283895
44 ANKRD11 NM_013275.5(ANKRD11): c.6670G> T (p.Glu2224Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 89346280: 89346280
45 ANKRD11 NM_013275.5(ANKRD11): c.6670G> T (p.Glu2224Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 89279872: 89279872
46 ANKRD11 NM_001256182.1(ANKRD11): c.3632_3633delAA (p.Lys1211Argfs) deletion Pathogenic GRCh38 Chromosome 16, 89282909: 89282910
47 ANKRD11 NM_001256182.1(ANKRD11): c.3632_3633delAA (p.Lys1211Argfs) deletion Pathogenic GRCh37 Chromosome 16, 89349317: 89349318
48 ANKRD11 NM_013275.5(ANKRD11): c.6581A> G (p.Gln2194Arg) single nucleotide variant not provided GRCh37 Chromosome 16, 89346369: 89346369
49 ANKRD11 NM_013275.5(ANKRD11): c.6581A> G (p.Gln2194Arg) single nucleotide variant not provided GRCh38 Chromosome 16, 89279961: 89279961
50 ANKRD11 NM_013275.5(ANKRD11): c.6847C> T (p.Gln2283Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 89279695: 89279695

Expression for Kbg Syndrome

Search GEO for disease gene expression data for Kbg Syndrome.

Pathways for Kbg Syndrome

GO Terms for Kbg Syndrome

Cellular components related to Kbg Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.73 ANKRD11 DNMT1 HDAC8 KDM1A KDM6A KMT2D
2 nuclear chromatin GO:0000790 9.67 KDM1A KDM6A NIPBL SMARCB1
3 nuclear matrix GO:0016363 9.63 RAD21 SMC1A SMC3
4 chromosome, centromeric region GO:0000775 9.61 RAD21 SMC1A SMC3
5 chromatin GO:0000785 9.46 MECP2 NIPBL RAD21 SMC3
6 MLL3/4 complex GO:0044666 9.4 KDM6A KMT2D
7 meiotic cohesin complex GO:0030893 9.32 SMC1A SMC3
8 cohesin complex GO:0008278 8.8 RAD21 SMC1A SMC3
9 nucleus GO:0005634 10.13 ANKRD11 DNMT1 ESPL1 HDAC8 KDM1A KDM6A

Biological processes related to Kbg Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.92 NIPBL RAD21 SMARCB1 SMC1A SMC3
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.85 DNMT1 HDAC8 KDM1A MECP2 NIPBL ZFPM1
3 regulation of gene expression GO:0010468 9.76 DNMT1 KDM6A MECP2 NIPBL
4 regulation of mitotic spindle assembly GO:1901673 9.55 SMC1A SMC3
5 histone H3-K4 methylation GO:0051568 9.51 KDM6A KMT2D
6 stem cell population maintenance GO:0019827 9.5 NIPBL SMC1A SMC3
7 mitotic sister chromatid cohesion GO:0007064 9.48 NIPBL SMC1A
8 neuron maturation GO:0042551 9.4 KDM1A MECP2
9 negative regulation of DNA endoreduplication GO:0032876 9.26 SMC1A SMC3
10 sister chromatid cohesion GO:0007062 9.26 HDAC8 RAD21 SMC1A SMC3
11 transcriptional activation by promoter-enhancer looping GO:0071733 9.16 NIPBL ZFPM1
12 chromatin organization GO:0006325 9.1 DNMT1 HDAC8 KDM1A KDM6A KMT2D SMARCB1
13 regulation of transcription, DNA-templated GO:0006355 10.15 DNMT1 HDAC8 KDM1A KMT2D MECP2 NIPBL
14 transcription, DNA-templated GO:0006351 10.09 DNMT1 HDAC8 KDM1A KMT2D MECP2 NIPBL
15 positive regulation of transcription by RNA polymerase II GO:0045944 10.01 KDM1A KMT2D NIPBL RAD21 SMARCB1 ZFPM1

Molecular functions related to Kbg Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.56 HDAC8 KDM1A MECP2 ZFPM1
2 methyl-CpG binding GO:0008327 9.32 DNMT1 MECP2
3 chromatin binding GO:0003682 9.28 DNMT1 HDAC8 KDM1A KDM6A MECP2 NIPBL
4 mediator complex binding GO:0036033 9.13 NIPBL SMC1A SMC3
5 protein binding GO:0005515 10.13 ANKRD11 CDH15 DNMT1 ESPL1 HDAC8 IGF1R

Sources for Kbg Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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