MCID: KBG001
MIFTS: 49

Kbg Syndrome malady

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

Aliases & Classifications for Kbg Syndrome

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Kbg Syndrome:

Name: Kbg Syndrome 52 11 48 24 25 54 70 12 39 13 68
Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, and Skeletal Anomalies 48 25
Kbgs 70 27
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome 25
 
Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, and Skeletal Anomalies 25
Macrodontia Mental Retardation Characteristic Facies Short Stature and Skeletal Anomalies 70
Short Stature-Facial and Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome 54

Characteristics:

Orphanet epidemiological data:

54
kbg syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
kbg syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 148050
Disease Ontology11 DOID:14780
Orphanet54 ORPHA2332
SNOMED-CT62 711156009
MESH via Orphanet40 C537015
UMLS via Orphanet69 C0220687
ICD10 via Orphanet31 Q87.8
MedGen37 C0220687

Summaries for Kbg Syndrome

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NIH Rare Diseases:48 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. Last updated: 6/18/2015

MalaCards based summary: Kbg Syndrome, also known as short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies, is related to ring chromosome 17 and chromosome 16p13.3 duplication syndrome, and has symptoms including round face, telecanthus and abnormality of the ribs. An important gene associated with Kbg Syndrome is ANKRD11 (Ankyrin Repeat Domain 11), and among its related pathways are Meiosis and Oocyte meiosis. Affiliated tissues include bone and heart, and related mouse phenotypes are Effect on mitosis and craniofacial.

Disease Ontology:11 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:52 KBG syndrome is characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short... (148050) more...

UniProtKB/Swiss-Prot:70 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.

Related Diseases for Kbg Syndrome

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Graphical network of diseases related to Kbg Syndrome:



Diseases related to kbg syndrome

Symptoms & Phenotypes for Kbg Syndrome

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Symptoms by clinical synopsis from OMIM:

148050

Clinical features from OMIM:

148050

Human phenotypes related to Kbg Syndrome:

 64 (show all 50)
id Description HPO Frequency HPO Source Accession
1 round face64 hallmark (90%) HP:0000311
2 telecanthus64 hallmark (90%) HP:0000506
3 abnormality of the ribs64 hallmark (90%) HP:0000772
4 brachydactyly syndrome64 hallmark (90%) HP:0001156
5 macrodontia64 hallmark (90%) HP:0001572
6 abnormality of calvarial morphology64 hallmark (90%) HP:0002648
7 delayed skeletal maturation64 hallmark (90%) HP:0002750
8 abnormality of the femur64 hallmark (90%) HP:0002823
9 abnormal form of the vertebral bodies64 hallmark (90%) HP:0003312
10 short stature64 hallmark (90%) HP:0004322
11 cognitive impairment64 hallmark (90%) HP:0100543
12 aplasia/hypoplasia of the eyebrow64 hallmark (90%) HP:0100840
13 narrow mouth64 typical (50%) HP:0000160
14 hypertelorism64 typical (50%) HP:0000316
15 low-set, posteriorly rotated ears64 typical (50%) HP:0000368
16 short neck64 typical (50%) HP:0000470
17 strabismus64 typical (50%) HP:0000486
18 single transverse palmar crease64 typical (50%) HP:0000954
19 low posterior hairline64 typical (50%) HP:0002162
20 eeg abnormality64 typical (50%) HP:0002353
21 finger syndactyly64 typical (50%) HP:0006101
22 reduced number of teeth64 typical (50%) HP:0009804
23 cryptorchidism64 occasional (7.5%) HP:0000028
24 cleft palate64 occasional (7.5%) HP:0000175
25 pointed chin64 occasional (7.5%) HP:0000307
26 facial asymmetry64 occasional (7.5%) HP:0000324
27 hearing impairment64 occasional (7.5%) HP:0000365
28 abnormality of dental enamel64 occasional (7.5%) HP:0000682
29 postaxial hand polydactyly64 occasional (7.5%) HP:0001162
30 microcephaly64 HP:0000252
31 low anterior hairline64 HP:0000294
32 triangular face64 HP:0000325
33 long philtrum64 HP:0000343
34 macrotia64 HP:0000400
35 underdeveloped nasal alae64 HP:0000430
36 anteverted nares64 HP:0000463
37 thick eyebrow64 HP:0000574
38 long palpebral fissure64 HP:0000637
39 oligodontia64 HP:0000677
40 cervical ribs64 HP:0000891
41 rib fusion64 HP:0000902
42 syndactyly64 HP:0001159
43 intellectual disability64 HP:0001249
44 global developmental delay64 HP:0001263
45 widely-spaced maxillary central incisors64 HP:0001566
46 thoracic kyphosis64 HP:0002942
47 vertebral fusion64 HP:0002948
48 vertebral arch anomaly64 HP:0008438
49 radial deviation of finger64 HP:0009466
50 clinodactyly64 HP:0030084

GenomeRNAi Phenotypes related to Kbg Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00257-A-29.8ESPL1, RAD21, SMC1A, SMC3

MGI Mouse Phenotypes related to Kbg Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0ANKRD11, HDAC8, KDM6A, MECP2, NIPBL, SMC3
2MP:00053977.8ANKRD11, ESPL1, KDM1A, KDM6A, KMT2D, RAD21
3MP:00053807.7ANKRD11, ESPL1, HDAC8, KDM1A, KDM6A, KMT2D
4MP:00053907.6ANKRD11, HDAC8, KDM6A, MECP2, NIPBL, SMC3
5MP:00053847.6ESPL1, HDAC8, KDM1A, KDM6A, KMT2D, MECP2
6MP:00053877.0ANKRD11, ESPL1, KDM1A, KDM6A, KMT2D, MECP2
7MP:00053786.8ANKRD11, ESPL1, HDAC8, KDM1A, KDM6A, KMT2D
8MP:00107686.5ANKRD11, ESPL1, HDAC8, KDM1A, KDM6A, KMT2D

Drugs & Therapeutics for Kbg Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Kbg Syndrome


Cochrane evidence based reviews: kbg syndrome

Genetic Tests for Kbg Syndrome

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Genetic tests related to Kbg Syndrome:

id Genetic test Affiliating Genes
1 Kbg Syndrome27 24 ANKRD11

Anatomical Context for Kbg Syndrome

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MalaCards organs/tissues related to Kbg Syndrome:

36
Bone, Heart

Publications for Kbg Syndrome

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Articles related to Kbg Syndrome:

(show all 38)
idTitleAuthorsYear
1
Clinical and genetic aspects of KBG syndrome. (27667800)
2016
2
KBG syndrome involving a single-nucleotide duplication in ANKRD11. (27900361)
2016
3
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. (27605097)
2016
4
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. (25413698)
2015
5
An unusual case of KBG syndrome with unique oral findings. (26187867)
2015
6
A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion. (25464108)
2015
7
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome. (25838844)
2015
8
Further delineation of the KBG syndrome caused by ANKRD11 aberrations. (26269249)
2015
9
Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment. (25833229)
2015
10
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. (24838796)
2014
11
A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome. (25187894)
2014
12
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. (25424714)
2014
13
Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene. (25543316)
2014
14
A Chinese patient with KBG syndrome and a 9q31.2-33.1 microdeletion. (23369839)
2013
15
A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome. (23463723)
2013
16
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. (23184435)
2013
17
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. (21782149)
2011
18
KBG syndrome: clinical features and specific dental findings. (21070713)
2010
19
KBG syndrome associated with periventricular nodular heterotopia. (20354438)
2010
20
Twins with KBG syndrome and autism. (19597979)
2009
21
Aortic valve regurgitation in a patient affected by KBG syndrome. (19301564)
2009
22
KBG syndrome: review of the literature and findings of 5 affected patients. (19716495)
2009
23
The KBG syndrome: Case report. (18822138)
2008
24
KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria. (17230487)
2007
25
KBG syndrome. (17163996)
2006
26
Eight isolated cases of KBG syndrome: a new hypothesis of study. (15850144)
2005
27
Clinical variability in KBG syndrome: report of three unrelated families. (15384099)
2004
28
The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype. (15378538)
2004
29
KBG syndrome in a cohort of Italian patients. (15523620)
2004
30
The KBG syndrome, characteristic dental findings: a case report. (11310136)
2001
31
The KBG syndrome. (10826617)
2000
32
The KBG syndrome: an additional sporadic case. (10756425)
2000
33
Further delineation of the KBG syndrome. (9777340)
1998
34
Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome. (9001820)
1996
35
Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria. (7810561)
1994
36
The KBG syndrome: follow-up data on three affected brothers. (7834892)
1994
37
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
38
The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. (1218237)
1975

Variations for Kbg Syndrome

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Clinvar genetic disease variations for Kbg Syndrome:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1ANKRD11NM_013275.5(ANKRD11): c.2398_2401delGAAA (p.Glu800Asnfs)deletionPathogenicrs797045027GRCh37Chr 16, 89350549: 89350552
2ANKRD11NM_001256182.1(ANKRD11): c.6210_6211delGT (p.Lys2070Asnfs)deletionPathogenicrs863225257GRCh37Chr 16, 89346739: 89346740
3ANKRD11NM_001256182.1(ANKRD11): c.7180C> T (p.Gln2394Ter)SNVPathogenicrs863225296GRCh37Chr 16, 89345770: 89345770
4ANKRD11NM_001256182.1(ANKRD11): c.6472G> T (p.Glu2158Ter)SNVPathogenicrs869312713GRCh38Chr 16, 89280070: 89280070
5ANKRD11NM_001256182.1(ANKRD11): c.6786delC (p.Ala2265Profs)deletionPathogenicrs878855327GRCh37Chr 16, 89346164: 89346164
6ANKRD11NM_001256182.1(ANKRD11): c.6015dupA (p.Gly2006Argfs)duplicationPathogenicrs879253753GRCh37Chr 16, 89346935: 89346935
7ANKRD11NM_001256182: c.7545delGundetermined variantPathogenicChr na, -1: -1
8ANKRD11NM_013275.5(ANKRD11): c.2408_2412delAAAAA (p.Lys803Argfs)deletionPathogenicrs886039902GRCh38Chr 16, 89284130: 89284134
9ANKRD11NM_001256182.1(ANKRD11): c.7570_7575delGAGAAGSNVPathogenicrs863223319GRCh37Chr 16, 89341366: 89341366
10ANKRD11NM_001256182.1(ANKRD11): c.2305delT (p.Ser769Glnfs)deletionPathogenicrs863223320GRCh38Chr 16, 89284237: 89284237
11ANKRD11NM_001256182.1(ANKRD11): c.5953_5954delCA (p.Gln1985Glufs)deletionPathogenicrs863223321GRCh37Chr 16, 89346996: 89346997

Expression for genes affiliated with Kbg Syndrome

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Search GEO for disease gene expression data for Kbg Syndrome.

Pathways for genes affiliated with Kbg Syndrome

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GO Terms for genes affiliated with Kbg Syndrome

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1meiotic cohesin complexGO:003089310.6SMC1A, SMC3
2cohesin complexGO:000827810.6RAD21, SMC3
3nuclear meiotic cohesin complexGO:003499110.6RAD21, SMC3
4condensed nuclear chromosomeGO:000079410.6RAD21, SMC1A
5chromosomeGO:000569410.3RAD21, SMC1A, SMC3
6chromosome, centromeric regionGO:000077510.3RAD21, SMC1A, SMC3
7chromatinGO:000078510.1NIPBL, RAD21, SMC3
8histone methyltransferase complexGO:00350979.9KDM6A, KMT2D
9MLL3/4 complexGO:00446669.9KDM6A, KMT2D
10nucleoplasmGO:00056547.4ANKRD11, HDAC8, KDM1A, KDM6A, KMT2D, NIPBL
11nucleusGO:00056345.9ANKRD11, ESPL1, HDAC8, KDM1A, KDM6A, KMT2D

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1neuron maturationGO:004255110.5KDM1A, MECP2
2meiotic nuclear divisionGO:000712610.5SMC1A, SMC3
3face morphogenesisGO:006032510.5ANKRD11, NIPBL
4mitotic spindle organizationGO:000705210.4SMC1A, SMC3
5negative regulation of DNA endoreduplicationGO:003287610.4SMC1A, SMC3
6response to radiationGO:000931410.4MECP2, SMC1A
7mitotic sister chromatid segregationGO:000007010.2ESPL1, SMC1A
8chromatin silencingGO:000634210.1KMT2D, MECP2
9protein sumoylationGO:001692510.0RAD21, SMC1A, SMC3
10in utero embryonic developmentGO:000170110.0ANKRD11, KDM1A, KDM6A
11mitotic sister chromatid cohesionGO:000706410.0NIPBL, SMC1A, SMC3
12mitotic nuclear divisionGO:00070679.9ESPL1, RAD21, SMC3
13heart developmentGO:00075079.8KDM6A, MECP2, NIPBL
14histone H3-K4 methylationGO:00515689.7KDM6A, KMT2D
15sister chromatid cohesionGO:00070629.5HDAC8, RAD21, SMC1A, SMC3
16stem cell population maintenanceGO:00198279.4NIPBL, SMC1A, SMC3

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

idNameGO IDScoreTop Affiliating Genes
1histone deacetylase activityGO:000440710.6HDAC8, KDM1A
2histone demethylase activityGO:003245210.4KDM1A, KDM6A
3mediator complex bindingGO:003603310.2NIPBL, SMC1A, SMC3
4chromatin bindingGO:00036829.6KDM1A, MECP2, NIPBL, SMC1A, SMC3
5protein bindingGO:00055155.2ESPL1, HDAC8, KDM1A, KDM6A, KMT2D, MECP2

Sources for Kbg Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet