MCID: KBG001
MIFTS: 49

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 54 12 50 24 25 56 71 29 13 42 14 69
Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, and Skeletal Anomalies 50 25
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 71
Short Stature-Facial and Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome 56
Kbgs 71

Characteristics:

Orphanet epidemiological data:

56
kbg syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
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 : 50 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 microphthalmia, isolated 5 and 19p13.12 microdeletion syndrome, and has symptoms including short stature, microcephaly and hypertelorism. An important gene associated with Kbg Syndrome is ANKRD11 (Ankyrin Repeat Domain 11), and among its related pathways/superpathways are Cell Cycle, Mitotic and Mitotic Metaphase and Anaphase. Affiliated tissues include bone and heart, and related phenotypes are cellular and growth/size/body region

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 : 54
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 : 71 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

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:

54

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

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

Genitourinary- Internal Genitalia Male:
cryptorchidism

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

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

Skeletal:
delayed bone maturation

Growth- Height:
short stature (less than tenth percentile)

Skin Nails & Hair- Skin:
simian crease

Head And Neck- Head:
microcephaly

Head And Neck- Nose:
anteverted nares
hypoplastic alae nasi

Skin Nails & Hair- Hair:
low anterior hairline
low posterior hairline
broad, bushy eyebrows

Skeletal- Hands:
clinodactyly
syndactyly
decreased hand length

Skeletal- Spine:
thoracic kyphosis
vertebral body fusion
vertebral arch abnormalities

Head And Neck- Ears:
large, prominent ears

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


Clinical features from OMIM:

148050

Human phenotypes related to Kbg Syndrome:

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

MGI Mouse Phenotypes related to Kbg Syndrome:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 ESPL1 HDAC8 IGF1R KDM1A KDM6A KMT2D
2 growth/size/body region MP:0005378 10.18 ANKRD11 ESPL1 HDAC8 IGF1R KDM1A KDM6A
3 embryo MP:0005380 10.13 ANKRD11 ESPL1 HDAC8 IGF1R KDM1A KDM6A
4 craniofacial MP:0005382 10.06 ANKRD11 HDAC8 IGF1R KDM6A KMT2D MECP2
5 cardiovascular system MP:0005385 10.04 IGF1R KDM6A KMT2D MECP2 NIPBL ZFPM1
6 immune system MP:0005387 10.03 KDM6A KMT2D MECP2 NIPBL RAD21 SMC1A
7 hematopoietic system MP:0005397 10.02 ESPL1 IGF1R KDM1A KDM6A KMT2D RAD21
8 mortality/aging MP:0010768 9.97 KDM1A KDM6A KMT2D MECP2 NIPBL RAD21
9 hearing/vestibular/ear MP:0005377 9.77 ANKRD11 IGF1R KMT2D MECP2 NIPBL
10 nervous system MP:0003631 9.61 ESPL1 HDAC8 IGF1R KDM1A KDM6A KMT2D
11 skeleton MP:0005390 9.28 ANKRD11 HDAC8 IGF1R KDM6A KMT2D MECP2

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:

id Genetic test Affiliating Genes
1 Kbg Syndrome 29 24 ANKRD11

Anatomical Context for Kbg Syndrome

MalaCards organs/tissues related to Kbg Syndrome:

39
Bone, Heart

Publications for Kbg Syndrome

Articles related to Kbg Syndrome:

(show all 43)
id Title Authors Year
1
A splice-site variant in ANKRD11 associated with classical KBG syndrome. ( 28815928 )
2017
2
A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. ( 28566769 )
2017
3
KBG syndrome: 16q24.3 microdeletion in an Indian patient. ( 28099180 )
2017
4
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. ( 28250421 )
2017
5
KBG syndrome: An Australian experience. ( 28449295 )
2017
6
KBG syndrome involving a single-nucleotide duplication in ANKRD11. ( 27900361 )
2016
7
Clinical and genetic aspects of KBG syndrome. ( 27667800 )
2016
8
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. ( 27605097 )
2016
9
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome. ( 25838844 )
2015
10
Further delineation of the KBG syndrome caused by ANKRD11 aberrations. ( 26269249 )
2015
11
A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion. ( 25464108 )
2015
12
An unusual case of KBG syndrome with unique oral findings. ( 26187867 )
2015
13
Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment. ( 25833229 )
2015
14
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. ( 25413698 )
2015
15
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. ( 25424714 )
2014
16
A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome. ( 25187894 )
2014
17
Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene. ( 25543316 )
2014
18
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. ( 24838796 )
2014
19
A Chinese patient with KBG syndrome and a 9q31.2-33.1 microdeletion. ( 23369839 )
2013
20
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. ( 23184435 )
2013
21
A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome. ( 23463723 )
2013
22
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. ( 21782149 )
2011
23
KBG syndrome: clinical features and specific dental findings. ( 21070713 )
2010
24
KBG syndrome associated with periventricular nodular heterotopia. ( 20354438 )
2010
25
KBG syndrome: review of the literature and findings of 5 affected patients. ( 19716495 )
2009
26
Twins with KBG syndrome and autism. ( 19597979 )
2009
27
Aortic valve regurgitation in a patient affected by KBG syndrome. ( 19301564 )
2009
28
The KBG syndrome: Case report. ( 18822138 )
2008
29
KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria. ( 17230487 )
2007
30
KBG syndrome. ( 17163996 )
2006
31
Eight isolated cases of KBG syndrome: a new hypothesis of study. ( 15850144 )
2005
32
Clinical variability in KBG syndrome: report of three unrelated families. ( 15384099 )
2004
33
The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype. ( 15378538 )
2004
34
KBG syndrome in a cohort of Italian patients. ( 15523620 )
2004
35
The KBG syndrome, characteristic dental findings: a case report. ( 11310136 )
2001
36
The KBG syndrome: an additional sporadic case. ( 10756425 )
2000
37
The KBG syndrome. ( 10826617 )
2000
38
Further delineation of the KBG syndrome. ( 9777340 )
1998
39
Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome. ( 9001820 )
1996
40
The KBG syndrome: follow-up data on three affected brothers. ( 7834892 )
1994
41
Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria. ( 7810561 )
1994
42
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
43
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 all 22)
id 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.2305delT (p.Ser769Glnfs) deletion Pathogenic rs863223320 GRCh38 Chromosome 16, 89284237: 89284237
3 ANKRD11 NM_001256182.1(ANKRD11): c.5953_5954delCA (p.Gln1985Glufs) deletion Pathogenic rs863223321 GRCh37 Chromosome 16, 89346996: 89346997
4 ANKRD11 NM_013275.5(ANKRD11): c.2398_2401delGAAA (p.Glu800Asnfs) deletion Pathogenic rs797045027 GRCh37 Chromosome 16, 89350549: 89350552
5 ANKRD11 NM_001256182.1(ANKRD11): c.6210_6211delGT (p.Lys2070Asnfs) deletion Pathogenic rs863225257 GRCh37 Chromosome 16, 89346739: 89346740
6 ANKRD11 NM_001256182.1(ANKRD11): c.7180C> T (p.Gln2394Ter) single nucleotide variant Pathogenic rs863225296 GRCh37 Chromosome 16, 89345770: 89345770
7 ANKRD11 NM_001256182.1(ANKRD11): c.6472G> T (p.Glu2158Ter) single nucleotide variant Pathogenic rs869312713 GRCh37 Chromosome 16, 89346478: 89346478
8 ANKRD11 NM_001256182.1(ANKRD11): c.6786delC (p.Ala2265Profs) deletion Pathogenic rs878855327 GRCh37 Chromosome 16, 89346164: 89346164
9 ANKRD11 NM_001256182.1(ANKRD11): c.6015dupA (p.Gly2006Argfs) duplication Pathogenic rs879253753 GRCh37 Chromosome 16, 89346935: 89346935
10 ANKRD11 NM_001256182: c.7545delG undetermined variant Pathogenic
11 ANKRD11 NM_013275.5(ANKRD11): c.2175_2178delCAAA (p.Asn725Lysfs) deletion Pathogenic/Likely pathogenic rs886039734 GRCh38 Chromosome 16, 89284364: 89284367
12 ANKRD11 NM_013275.5(ANKRD11): c.2408_2412delAAAAA (p.Lys803Argfs) deletion Pathogenic rs886039902 GRCh38 Chromosome 16, 89284130: 89284134
13 ANKRD11 NM_013275.5(ANKRD11): c.1903_1907delAAACA (p.Lys635Glnfs) deletion Pathogenic rs886041125 GRCh37 Chromosome 16, 89351043: 89351047
14 ANKRD11 NM_013275.5(ANKRD11): c.2197C> T (p.Arg733Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886041791 GRCh38 Chromosome 16, 89284345: 89284345
15 ANKRD11 NM_013275.5(ANKRD11): c.3122C> A (p.Ser1041Ter) single nucleotide variant Pathogenic rs1057518663 GRCh38 Chromosome 16, 89283420: 89283420
16 ANKRD11 NM_001256182.1(ANKRD11): c.7751C> A (p.Ala2584Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 16, 89337280: 89337280
17 ANKRD11 NM_001256182.1(ANKRD11): c.6212C> G (p.Ser2071Ter) single nucleotide variant Pathogenic rs763407068 GRCh37 Chromosome 16, 89346738: 89346738
18 ANKRD11 NM_001256182.1(ANKRD11): c.5504delT (p.Leu1835Argfs) deletion Pathogenic rs1057519399 GRCh37 Chromosome 16, 89347446: 89347446
19 ANKRD11 NM_001256182.1(ANKRD11): c.6786_6787insA (p.Pro2263Thrfs) insertion Pathogenic rs1135401815 GRCh37 Chromosome 16, 89346163: 89346164
20 ANKRD11 NM_001256182.1(ANKRD11): c.2647G> T (p.Glu883Ter) single nucleotide variant Pathogenic rs1135401804 GRCh37 Chromosome 16, 89350303: 89350303
21 ANKRD11 NM_013275.5(ANKRD11): c.6670G> T (p.Glu2224Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 89346280: 89346280
22 ANKRD11 NM_001256182.1(ANKRD11): c.3632_3633delAA (p.Lys1211Argfs) deletion Pathogenic GRCh37 Chromosome 16, 89349317: 89349318

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:

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.65 ANKRD11 HDAC8 KDM1A KDM6A KMT2D NIPBL
2 chromatin GO:0000785 9.61 NIPBL RAD21 SMC3
3 chromosome, centromeric region GO:0000775 9.54 RAD21 SMC1A SMC3
4 histone methyltransferase complex GO:0035097 9.46 KDM6A KMT2D
5 MLL3/4 complex GO:0044666 9.32 KDM6A KMT2D
6 meiotic cohesin complex GO:0030893 9.16 SMC1A SMC3
7 nuclear matrix GO:0016363 9.1 SMC3
8 cohesin complex GO:0008278 8.8 RAD21 SMC1A SMC3
9 nucleus GO:0005634 10.07 ANKRD11 ESPL1 HDAC8 KDM1A KDM6A KMT2D

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.85 HDAC8 KDM1A MECP2 NIPBL ZFPM1
2 cellular response to DNA damage stimulus GO:0006974 9.8 NIPBL RAD21 SMC1A SMC3
3 covalent chromatin modification GO:0016569 9.67 HDAC8 KDM1A KDM6A KMT2D
4 mitotic spindle organization GO:0007052 9.52 MECP2 SMC1A
5 face morphogenesis GO:0060325 9.51 ANKRD11 NIPBL
6 chromosome organization GO:0051276 9.48 SMC1A SMC3
7 mitotic sister chromatid segregation GO:0000070 9.43 ESPL1 SMC1A
8 stem cell population maintenance GO:0019827 9.43 NIPBL SMC1A SMC3
9 histone H3-K4 methylation GO:0051568 9.4 KDM6A KMT2D
10 neuron maturation GO:0042551 9.32 KDM1A MECP2
11 sister chromatid cohesion GO:0007062 9.26 HDAC8 RAD21 SMC1A SMC3
12 negative regulation of DNA endoreduplication GO:0032876 9.16 SMC1A SMC3
13 mitotic sister chromatid cohesion GO:0007064 8.8 NIPBL SMC1A SMC3

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.46 HDAC8 KDM1A MECP2 ZFPM1
2 chromatin binding GO:0003682 9.43 KDM1A MECP2 NIPBL RAD21 SMC1A SMC3
3 histone demethylase activity GO:0032452 9.32 KDM1A KDM6A
4 mediator complex binding GO:0036033 8.8 NIPBL SMC1A SMC3
5 protein binding GO:0005515 10.1 CDH15 ESPL1 HDAC8 IGF1R KDM1A KMT2D

Sources for Kbg Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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