KBGS
MCID: KBG001
MIFTS: 41

Kbg Syndrome (KBGS)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare 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 alacrima, achalasia, and mental retardation syndrome. An important gene associated with Kbg Syndrome is ANKRD11 (Ankyrin Repeat Domain 11), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and MECP2 and Associated Rett Syndrome. Affiliated tissues include bone, heart and eye, and related phenotypes are hypertelorism and clinodactyly

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.

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.

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.

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

Diseases related to Kbg Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 16q24.3 microdeletion syndrome 29.7 ZNF778 ANKRD11
2 alacrima, achalasia, and mental retardation syndrome 29.6 MECP2 ANKRD11
3 kabuki syndrome 1 10.0
4 autism 10.0
5 periventricular nodular heterotopia 10.0
6 endocarditis 10.0
7 rhabdoid cancer 10.0
8 hypertelorism 9.9 MECP2 ANKRD11

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

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

MGI Mouse Phenotypes related to Kbg Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.13 ANKRD11 MECP2 SMC3
2 skeleton MP:0005390 8.92 ANKRD11 KDM1A MECP2 SMC3

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 top 50) (show all 52)
# 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
Isolated tricuspid valve Staphylococcus lugdunensis endocarditis in patient with a KBG syndrome. ( 30317719 )
2018
5
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11. ( 30088855 )
2018
6
Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study. ( 29311865 )
2017
7
KBG syndrome: An Australian experience. ( 28449295 )
2017
8
A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. ( 28566769 )
2017
9
KBG syndrome. ( 29258554 )
2017
10
Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature. ( 29224748 )
2017
11
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. ( 28250421 )
2017
12
KBG syndrome: 16q24.3 microdeletion in an Indian patient. ( 28099180 )
2017
13
A splice-site variant in ANKRD11 associated with classical KBG syndrome. ( 28815928 )
2017
14
KBG syndrome involving a single-nucleotide duplication in ANKRD11. ( 27900361 )
2016
15
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. ( 27605097 )
2016
16
Clinical and genetic aspects of KBG syndrome. ( 27667800 )
2016
17
Further delineation of the KBG syndrome caused by ANKRD11 aberrations. ( 26269249 )
2015
18
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. ( 25413698 )
2015
19
Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment. ( 25833229 )
2015
20
A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion. ( 25464108 )
2015
21
An unusual case of KBG syndrome with unique oral findings. ( 26187867 )
2015
22
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome. ( 25838844 )
2015
23
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. ( 24838796 )
2014
24
A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome. ( 25187894 )
2014
25
Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene. ( 25543316 )
2014
26
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. ( 25424714 )
2014
27
A Chinese patient with KBG syndrome and a 9q31.2-33.1 microdeletion. ( 23369839 )
2013
28
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. ( 23184435 )
2013
29
A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome. ( 23463723 )
2013
30
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. ( 21782149 )
2011
31
KBG syndrome: clinical features and specific dental findings. ( 21070713 )
2010
32
KBG syndrome associated with periventricular nodular heterotopia. ( 20354438 )
2010
33
Twins with KBG syndrome and autism. ( 19597979 )
2009
34
Aortic valve regurgitation in a patient affected by KBG syndrome. ( 19301564 )
2009
35
KBG syndrome: review of the literature and findings of 5 affected patients. ( 19716495 )
2009
36
The KBG syndrome: Case report. ( 18822138 )
2008
37
KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria. ( 17230487 )
2007
38
KBG syndrome. ( 17163996 )
2006
39
Eight isolated cases of KBG syndrome: a new hypothesis of study. ( 15850144 )
2005
40
Clinical variability in KBG syndrome: report of three unrelated families. ( 15384099 )
2004
41
KBG syndrome in a cohort of Italian patients. ( 15523620 )
2004
42
The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype. ( 15378538 )
2004
43
The KBG syndrome, characteristic dental findings: a case report. ( 11310136 )
2001
44
The KBG syndrome. ( 10826617 )
2000
45
The KBG syndrome: an additional sporadic case. ( 10756425 )
2000
46
Further delineation of the KBG syndrome. ( 9777340 )
1998
47
Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome. ( 9001820 )
1996
48
The KBG syndrome: follow-up data on three affected brothers. ( 7834892 )
1994
49
Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria. ( 7810561 )
1994
50
KBG Syndrome ( 29565525 )
1993

Variations for Kbg Syndrome

ClinVar genetic disease variations for Kbg Syndrome:

6 (show top 50) (show all 107)
# 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.3770_3771delAA (p.Lys1257Argfs) deletion Pathogenic rs886039477 GRCh37 Chromosome 16, 89349179: 89349180
21 ANKRD11 NM_013275.5(ANKRD11): c.3770_3771delAA (p.Lys1257Argfs) deletion Pathogenic rs886039477 GRCh38 Chromosome 16, 89282771: 89282772
22 ANKRD11 NM_013275.5(ANKRD11): c.2175_2178delCAAA (p.Asn725Lysfs) deletion Pathogenic/Likely pathogenic rs886039734 GRCh37 Chromosome 16, 89350772: 89350775
23 ANKRD11 NM_013275.5(ANKRD11): c.2175_2178delCAAA (p.Asn725Lysfs) deletion Pathogenic/Likely pathogenic rs886039734 GRCh38 Chromosome 16, 89284364: 89284367
24 ANKRD11 NM_013275.5(ANKRD11): c.2408_2412delAAAAA (p.Lys803Argfs) deletion Pathogenic rs886039902 GRCh38 Chromosome 16, 89284130: 89284134
25 ANKRD11 NM_013275.5(ANKRD11): c.2408_2412delAAAAA (p.Lys803Argfs) deletion Pathogenic rs886039902 GRCh37 Chromosome 16, 89350538: 89350542
26 ANKRD11 NM_013275.5(ANKRD11): c.1903_1907delAAACA (p.Lys635Glnfs) deletion Pathogenic/Likely pathogenic rs886041125 GRCh37 Chromosome 16, 89351043: 89351047
27 ANKRD11 NM_013275.5(ANKRD11): c.1903_1907delAAACA (p.Lys635Glnfs) deletion Pathogenic/Likely pathogenic rs886041125 GRCh38 Chromosome 16, 89284635: 89284639
28 ANKRD11 NM_013275.5(ANKRD11): c.3562C> T (p.Arg1188Ter) single nucleotide variant Pathogenic rs761848111 GRCh37 Chromosome 16, 89349388: 89349388
29 ANKRD11 NM_013275.5(ANKRD11): c.3562C> T (p.Arg1188Ter) single nucleotide variant Pathogenic rs761848111 GRCh38 Chromosome 16, 89282980: 89282980
30 ANKRD11 NM_013275.5(ANKRD11): c.2197C> T (p.Arg733Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886041791 GRCh38 Chromosome 16, 89284345: 89284345
31 ANKRD11 NM_013275.5(ANKRD11): c.2197C> T (p.Arg733Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886041791 GRCh37 Chromosome 16, 89350753: 89350753
32 ANKRD11 NM_013275.5(ANKRD11): c.3122C> A (p.Ser1041Ter) single nucleotide variant Pathogenic rs1057518663 GRCh38 Chromosome 16, 89283420: 89283420
33 ANKRD11 NM_013275.5(ANKRD11): c.3122C> A (p.Ser1041Ter) single nucleotide variant Pathogenic rs1057518663 GRCh37 Chromosome 16, 89349828: 89349828
34 ANKRD11 NM_001256182.1(ANKRD11): c.7751C> A (p.Ala2584Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 16, 89337280: 89337280
35 ANKRD11 NM_001256182.1(ANKRD11): c.7751C> A (p.Ala2584Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 16, 89270872: 89270872
36 ANKRD11 NM_001256182.1(ANKRD11): c.6212C> G (p.Ser2071Ter) single nucleotide variant Pathogenic rs763407068 GRCh37 Chromosome 16, 89346738: 89346738
37 ANKRD11 NM_001256182.1(ANKRD11): c.6212C> G (p.Ser2071Ter) single nucleotide variant Pathogenic rs763407068 GRCh38 Chromosome 16, 89280330: 89280330
38 ANKRD11 NM_001256182.1(ANKRD11): c.5504delT (p.Leu1835Argfs) deletion Pathogenic rs1057519399 GRCh37 Chromosome 16, 89347446: 89347446
39 ANKRD11 NM_001256182.1(ANKRD11): c.5504delT (p.Leu1835Argfs) deletion Pathogenic rs1057519399 GRCh38 Chromosome 16, 89281038: 89281038
40 ANKRD11 NM_013275.5(ANKRD11): c.541G> A (p.Ala181Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs777123332 GRCh37 Chromosome 16, 89357093: 89357093
41 ANKRD11 NM_013275.5(ANKRD11): c.541G> A (p.Ala181Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs777123332 GRCh38 Chromosome 16, 89290685: 89290685
42 ANKRD11 NM_013275.5(ANKRD11): c.3224_3227delAAAG (p.Glu1075Glyfs) deletion Pathogenic rs1064794330 GRCh38 Chromosome 16, 89283315: 89283318
43 ANKRD11 NM_013275.5(ANKRD11): c.3224_3227delAAAG (p.Glu1075Glyfs) deletion Pathogenic rs1064794330 GRCh37 Chromosome 16, 89349723: 89349726
44 ANKRD11 NM_013275.5(ANKRD11): c.2684G> A (p.Arg895Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199800166 GRCh37 Chromosome 16, 89350266: 89350266
45 ANKRD11 NM_013275.5(ANKRD11): c.2684G> A (p.Arg895Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199800166 GRCh38 Chromosome 16, 89283858: 89283858
46 ANKRD11 NM_001256182.1(ANKRD11): c.6786_6787insA (p.Pro2263Thrfs) insertion Pathogenic rs1135401815 GRCh37 Chromosome 16, 89346163: 89346164
47 ANKRD11 NM_001256182.1(ANKRD11): c.6786_6787insA (p.Pro2263Thrfs) insertion Pathogenic rs1135401815 GRCh38 Chromosome 16, 89279755: 89279756
48 ANKRD11 NM_001256182.1(ANKRD11): c.2647G> T (p.Glu883Ter) single nucleotide variant Pathogenic rs1135401804 GRCh37 Chromosome 16, 89350303: 89350303
49 ANKRD11 NM_001256182.1(ANKRD11): c.2647G> T (p.Glu883Ter) single nucleotide variant Pathogenic rs1135401804 GRCh38 Chromosome 16, 89283895: 89283895
50 ANKRD11 NM_013275.5(ANKRD11): c.6670G> T (p.Glu2224Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 89346280: 89346280

Expression for Kbg Syndrome

Search GEO for disease gene expression data for Kbg Syndrome.

Pathways for Kbg Syndrome

Pathways related to Kbg Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.21 KDM1A MECP2 SMC3
2 10.75 MECP2 SMC3

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 nucleus GO:0005634 9.35 ANKRD11 KDM1A MECP2 SMC3 ZNF778
2 chromatin GO:0000785 8.62 MECP2 SMC3

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

# Name GO ID Score Top Affiliating Genes
1 neuron maturation GO:0042551 8.62 KDM1A MECP2

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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