KBGS
MCID: KBG001
MIFTS: 48

Kbg Syndrome (KBGS) 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 nanophthalmos 2 and spastic paraplegia 37, autosomal dominant, and has symptoms including cryptorchidism, microcephaly and low anterior hairline. An important gene associated with Kbg Syndrome is ANKRD11 (Ankyrin Repeat Domain 11), and among its related pathways are Mitotic Prometaphase and Mitotic Telophase/Cytokinesis. Affiliated tissues include bone and heart, and related mouse phenotypes are craniofacial and hematopoietic system.

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.

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...

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.

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 30)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism64 HP:0000028
2 microcephaly64 HP:0000252
3 low anterior hairline64 HP:0000294
4 round face64 HP:0000311
5 hypertelorism64 HP:0000316
6 triangular face64 HP:0000325
7 long philtrum64 HP:0000343
8 macrotia64 HP:0000400
9 underdeveloped nasal alae64 HP:0000430
10 anteverted nares64 HP:0000463
11 telecanthus64 HP:0000506
12 thick eyebrow64 HP:0000574
13 long palpebral fissure64 HP:0000637
14 oligodontia64 HP:0000677
15 cervical ribs64 HP:0000891
16 rib fusion64 HP:0000902
17 single transverse palmar crease64 HP:0000954
18 syndactyly64 HP:0001159
19 intellectual disability64 HP:0001249
20 global developmental delay64 HP:0001263
21 widely-spaced maxillary central incisors64 HP:0001566
22 macrodontia64 HP:0001572
23 low posterior hairline64 HP:0002162
24 delayed skeletal maturation64 HP:0002750
25 thoracic kyphosis64 HP:0002942
26 vertebral fusion64 HP:0002948
27 short stature64 HP:0004322
28 vertebral arch anomaly64 HP:0008438
29 radial deviation of finger64 HP:0009466
30 clinodactyly64 HP:0030084

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9ANKRD11, HDAC8, KDM6A, KMT2D, MECP2, NIPBL
2MP:00053978.0ANKRD11, ESPL1, KDM1A, KDM6A, KMT2D, RAD21
3MP:00053808.0ANKRD11, ESPL1, HDAC8, KDM1A, KDM6A, KMT2D
4MP:00053847.9ESPL1, HDAC8, KDM1A, KDM6A, KMT2D, MECP2
5MP:00053907.4ANKRD11, HDAC8, KDM6A, KMT2D, MECP2, NIPBL
6MP:00053877.4ANKRD11, ESPL1, KDM1A, KDM6A, KMT2D, MECP2
7MP:00053787.1ANKRD11, ESPL1, HDAC8, KDM1A, KDM6A, KMT2D
8MP:00107687.0ANKRD11, 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 41)
idTitleAuthorsYear
1
KBG syndrome: An Australian experience. (28449295)
2017
2
KBG syndrome: 16q24.3 microdeletion in an Indian patient. (28099180)
2017
3
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. (28250421)
2017
4
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. (27605097)
2016
5
KBG syndrome involving a single-nucleotide duplication in ANKRD11. (27900361)
2016
6
Clinical and genetic aspects of KBG syndrome. (27667800)
2016
7
An unusual case of KBG syndrome with unique oral findings. (26187867)
2015
8
Further delineation of the KBG syndrome caused by ANKRD11 aberrations. (26269249)
2015
9
A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion. (25464108)
2015
10
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. (25413698)
2015
11
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome. (25838844)
2015
12
Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment. (25833229)
2015
13
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. (24838796)
2014
14
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. (25424714)
2014
15
A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome. (25187894)
2014
16
Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene. (25543316)
2014
17
A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome. (23463723)
2013
18
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. (23184435)
2013
19
A Chinese patient with KBG syndrome and a 9q31.2-33.1 microdeletion. (23369839)
2013
20
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. (21782149)
2011
21
KBG syndrome: clinical features and specific dental findings. (21070713)
2010
22
KBG syndrome associated with periventricular nodular heterotopia. (20354438)
2010
23
KBG syndrome: review of the literature and findings of 5 affected patients. (19716495)
2009
24
Aortic valve regurgitation in a patient affected by KBG syndrome. (19301564)
2009
25
Twins with KBG syndrome and autism. (19597979)
2009
26
The KBG syndrome: Case report. (18822138)
2008
27
KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria. (17230487)
2007
28
KBG syndrome. (17163996)
2006
29
Eight isolated cases of KBG syndrome: a new hypothesis of study. (15850144)
2005
30
The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype. (15378538)
2004
31
KBG syndrome in a cohort of Italian patients. (15523620)
2004
32
Clinical variability in KBG syndrome: report of three unrelated families. (15384099)
2004
33
The KBG syndrome, characteristic dental findings: a case report. (11310136)
2001
34
The KBG syndrome. (10826617)
2000
35
The KBG syndrome: an additional sporadic case. (10756425)
2000
36
Further delineation of the KBG syndrome. (9777340)
1998
37
Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome. (9001820)
1996
38
The KBG syndrome: follow-up data on three affected brothers. (7834892)
1994
39
Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria. (7810561)
1994
40
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
41
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 15)
id Gene Variation Type Significance SNP ID Assembly Location
1ANKRD11NM_ 013275.5(ANKRD11): c.2398_ 2401delGAAA (p.Glu800Asnfs)deletionPathogenicrs797045027GRCh38Chr 16, 89284141: 89284144
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)SNVPathogenicrs869312713GRCh37Chr 16, 89346478: 89346478
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 variantPathogenic
8ANKRD11NM_ 013275.5(ANKRD11): c.2408_ 2412delAAAAA (p.Lys803Argfs)deletionPathogenicrs886039902GRCh38Chr 16, 89284130: 89284134
9ANKRD11NM_ 013275.5(ANKRD11): c.2197C> T (p.Arg733Ter)SNVPathogenic/ Likely pathogenicrs886041791GRCh38Chr 16, 89284345: 89284345
10ANKRD11NM_ 001256182.1(ANKRD11): c.7570_ 7575delGAGAAGSNVPathogenicrs863223319GRCh37Chr 16, 89341366: 89341366
11ANKRD11NM_ 001256182.1(ANKRD11): c.2305delT (p.Ser769Glnfs)deletionPathogenicrs863223320GRCh38Chr 16, 89284237: 89284237
12ANKRD11NM_ 001256182.1(ANKRD11): c.5953_ 5954delCA (p.Gln1985Glufs)deletionPathogenicrs863223321GRCh37Chr 16, 89346996: 89346997
13ANKRD11NM_ 013275.5(ANKRD11): c.3122C> A (p.Ser1041Ter)SNVPathogenicrs1057518663GRCh38Chr 16, 89283420: 89283420
14ANKRD11NM_ 001256182.1(ANKRD11): c.6212C> G (p.Ser2071Ter)SNVPathogenicrs763407068GRCh37Chr 16, 89346738: 89346738
15ANKRD11NM_ 001256182.1(ANKRD11): c.5504delT (p.Leu1835Argfs)deletionPathogenicrs1057519399GRCh37Chr 16, 89347446: 89347446

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:

idNameGO IDScoreTop Affiliating Genes
1meiotic cohesin complexGO:003089310.7SMC1A, SMC3
2condensed nuclear chromosomeGO:000079410.7RAD21, SMC1A
3chromosome, centromeric regionGO:000077510.4RAD21, SMC1A, SMC3
4cohesin complexGO:000827810.4RAD21, SMC1A, SMC3
5histone methyltransferase complexGO:003509710.3KDM6A, KMT2D
6MLL3/4 complexGO:004466610.3KDM6A, KMT2D
7chromatinGO:000078510.3NIPBL, RAD21, SMC3
8nucleoplasmGO:00056547.7ANKRD11, HDAC8, KDM1A, KDM6A, KMT2D, NIPBL
9nucleusGO: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
1chromosome organizationGO:005127610.6SMC1A, SMC3
2mitotic spindle organizationGO:000705210.6MECP2, SMC1A
3meiotic nuclear divisionGO:000712610.6SMC1A, SMC3
4face morphogenesisGO:006032510.6ANKRD11, NIPBL
5negative regulation of DNA endoreduplicationGO:003287610.6SMC1A, SMC3
6neuron maturationGO:004255110.5KDM1A, MECP2
7mitotic sister chromatid segregationGO:000007010.5ESPL1, SMC1A
8granulocyte differentiationGO:003085110.4KDM1A, ZFPM1
9mitotic sister chromatid cohesionGO:000706410.2NIPBL, SMC1A, SMC3
10histone H3-K4 methylationGO:005156810.2KDM6A, KMT2D
11cellular response to DNA damage stimulusGO:00069749.9NIPBL, RAD21, SMC1A, SMC3
12mitotic nuclear divisionGO:00070679.9ESPL1, RAD21, SMC1A, SMC3
13sister chromatid cohesionGO:00070629.7HDAC8, RAD21, SMC1A, SMC3
14covalent chromatin modificationGO:00165699.6HDAC8, KDM1A, KDM6A, KMT2D
15stem cell population maintenanceGO:00198279.5NIPBL, SMC1A, SMC3
16negative regulation of transcription from RNA polymerase II promoterGO:00001229.3HDAC8, KDM1A, MECP2, NIPBL, ZFPM1

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

idNameGO IDScoreTop Affiliating Genes
1histone demethylase activityGO:003245210.6KDM1A, KDM6A
2mediator complex bindingGO:003603310.3NIPBL, SMC1A, SMC3
3chromatin bindingGO:00036829.5KDM1A, MECP2, NIPBL, RAD21, SMC1A, SMC3
4transcription factor bindingGO:00081349.1HDAC8, KDM1A, MECP2, ZFPM1
5protein bindingGO:00055155.8CDH15, ESPL1, HDAC8, KDM1A, 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