MCID: KBG001
MIFTS: 51

Kbg Syndrome

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

Aliases & Classifications for Kbg Syndrome

MalaCards integrated aliases for Kbg Syndrome:

Name: Kbg Syndrome 53 12 49 24 55 71 28 13 41 14 69
Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, and Skeletal Anomalies 53 24
Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, and Skeletal Anomalies 49 24
Kbgs 53 71
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome 24
Macrodontia Mental Retardation Characteristic Facies Short Stature and Skeletal Anomalies 71
Short Stature-Facial and Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
kbg syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
male to female ratio 21:8


HPO:

31
kbg syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Kbg Syndrome

NIH Rare Diseases : 49 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 macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies, is related to 16q24.3 microdeletion syndrome and wiedemann-steiner syndrome, and has symptoms including seizures, hypertelorism and clinodactyly. An important gene associated with Kbg Syndrome is ANKRD11 (Ankyrin Repeat Domain 11), and among its related pathways/superpathways are Mitotic Metaphase and Anaphase and Mitotic Prometaphase. Affiliated tissues include bone and heart, and related phenotypes are growth/size/body region and cellular

OMIM : 53 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.

Genetics Home Reference : 24 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.

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:

53
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 RibsSternum 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:

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

MGI Mouse Phenotypes related to Kbg Syndrome:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.28 ANKRD11 DNMT1 ESPL1 HDAC8 IGF1R KDM1A
2 cellular MP:0005384 10.27 DNMT1 ESPL1 HDAC8 IGF1R KDM1A KDM6A
3 embryo MP:0005380 10.2 ANKRD11 DNMT1 ESPL1 HDAC8 IGF1R KDM1A
4 immune system MP:0005387 10.13 SMC3 ZFPM1 ANKRD11 DNMT1 ESPL1 IGF1R
5 mortality/aging MP:0010768 10.13 SMC1A SMC3 ZFPM1 ANKRD11 DNMT1 ESPL1
6 hematopoietic system MP:0005397 10.11 ANKRD11 DNMT1 ESPL1 IGF1R KDM1A KDM6A
7 craniofacial MP:0005382 10.08 IGF1R KDM6A KMT2D MECP2 NIPBL SMC3
8 adipose tissue MP:0005375 9.99 IGF1R KMT2D MECP2 NIPBL NTRK2 SMC3
9 nervous system MP:0003631 9.9 DNMT1 ESPL1 HDAC8 IGF1R KDM1A KDM6A
10 hearing/vestibular/ear MP:0005377 9.88 IGF1R KMT2D MECP2 NIPBL NTRK2 ANKRD11
11 normal MP:0002873 9.56 CDH15 DNMT1 HDAC8 KDM6A MECP2 NIPBL
12 skeleton MP:0005390 9.36 KDM1A KDM6A KMT2D MECP2 NIPBL NTRK2

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 28 ANKRD11

Anatomical Context for Kbg Syndrome

MalaCards organs/tissues related to Kbg Syndrome:

38
Bone, Heart

Publications for Kbg Syndrome

Articles related to Kbg Syndrome:

(show all 47)
# Title Authors Year
1
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
2
KBG syndrome: 16q24.3 microdeletion in an Indian patient. ( 28099180 )
2017
3
Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study. ( 29311865 )
2017
4
A splice-site variant in ANKRD11 associated with classical KBG syndrome. ( 28815928 )
2017
5
Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature. ( 29224748 )
2017
6
KBG syndrome: An Australian experience. ( 28449295 )
2017
7
A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. ( 28566769 )
2017
8
KBG syndrome. ( 29258554 )
2017
9
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. ( 28250421 )
2017
10
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. ( 27605097 )
2016
11
KBG syndrome involving a single-nucleotide duplication in ANKRD11. ( 27900361 )
2016
12
Clinical and genetic aspects of KBG syndrome. ( 27667800 )
2016
13
Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment. ( 25833229 )
2015
14
A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion. ( 25464108 )
2015
15
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome. ( 25838844 )
2015
16
An unusual case of KBG syndrome with unique oral findings. ( 26187867 )
2015
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
Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene. ( 25543316 )
2014
20
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. ( 24838796 )
2014
21
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. ( 25424714 )
2014
22
A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome. ( 25187894 )
2014
23
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. ( 23184435 )
2013
24
A Chinese patient with KBG syndrome and a 9q31.2-33.1 microdeletion. ( 23369839 )
2013
25
A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome. ( 23463723 )
2013
26
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. ( 21782149 )
2011
27
KBG syndrome associated with periventricular nodular heterotopia. ( 20354438 )
2010
28
KBG syndrome: clinical features and specific dental findings. ( 21070713 )
2010
29
Twins with KBG syndrome and autism. ( 19597979 )
2009
30
KBG syndrome: review of the literature and findings of 5 affected patients. ( 19716495 )
2009
31
Aortic valve regurgitation in a patient affected by KBG syndrome. ( 19301564 )
2009
32
The KBG syndrome: Case report. ( 18822138 )
2008
33
KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria. ( 17230487 )
2007
34
KBG syndrome. ( 17163996 )
2006
35
Eight isolated cases of KBG syndrome: a new hypothesis of study. ( 15850144 )
2005
36
The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype. ( 15378538 )
2004
37
Clinical variability in KBG syndrome: report of three unrelated families. ( 15384099 )
2004
38
KBG syndrome in a cohort of Italian patients. ( 15523620 )
2004
39
The KBG syndrome, characteristic dental findings: a case report. ( 11310136 )
2001
40
The KBG syndrome: an additional sporadic case. ( 10756425 )
2000
41
The KBG syndrome. ( 10826617 )
2000
42
Further delineation of the KBG syndrome. ( 9777340 )
1998
43
Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome. ( 9001820 )
1996
44
Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria. ( 7810561 )
1994
45
The KBG syndrome: follow-up data on three affected brothers. ( 7834892 )
1994
46
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
47
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 23)
# 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
23 ANKRD11 NM_013275.5(ANKRD11): c.6197_6198delTCinsAA (p.Phe2066Ter) indel Pathogenic GRCh37 Chromosome 16, 89346752: 89346753

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 9.7 ANKRD11 DNMT1 HDAC8 KDM1A KDM6A KMT2D
2 chromatin GO:0000785 9.61 NIPBL RAD21 SMC3
3 nuclear matrix GO:0016363 9.58 RAD21 SMC1A SMC3
4 chromosome, centromeric region GO:0000775 9.54 RAD21 SMC1A SMC3
5 mitotic spindle pole GO:0097431 9.48 SMC1A SMC3
6 histone methyltransferase complex GO:0035097 9.46 KDM6A KMT2D
7 MLL3/4 complex GO:0044666 9.32 KDM6A KMT2D
8 meiotic cohesin complex GO:0030893 9.16 SMC1A SMC3
9 cohesin complex GO:0008278 8.8 RAD21 SMC1A SMC3
10 nucleus GO:0005634 10.1 ANKRD11 DNMT1 ESPL1 HDAC8 KDM1A KDM6A

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.8 DNMT1 HDAC8 KDM1A MECP2 NIPBL ZFPM1
2 regulation of gene expression GO:0010468 9.67 DNMT1 KDM6A MECP2 NIPBL
3 mitotic sister chromatid segregation GO:0000070 9.49 ESPL1 SMC1A
4 regulation of mitotic spindle assembly GO:1901673 9.48 SMC1A SMC3
5 histone H3-K4 methylation GO:0051568 9.46 KDM6A KMT2D
6 mitotic sister chromatid cohesion GO:0007064 9.43 NIPBL SMC1A
7 stem cell population maintenance GO:0019827 9.43 NIPBL SMC1A SMC3
8 neuron maturation GO:0042551 9.4 KDM1A MECP2
9 covalent chromatin modification GO:0016569 9.35 DNMT1 HDAC8 KDM1A KDM6A KMT2D
10 negative regulation of DNA endoreduplication GO:0032876 9.16 SMC1A SMC3
11 sister chromatid cohesion GO:0007062 8.92 HDAC8 RAD21 SMC1A SMC3

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 histone demethylase activity GO:0032452 9.37 KDM1A KDM6A
3 methyl-CpG binding GO:0008327 9.32 DNMT1 MECP2
4 chromatin binding GO:0003682 9.23 DNMT1 HDAC8 KDM1A MECP2 NIPBL RAD21
5 mediator complex binding GO:0036033 9.13 NIPBL SMC1A SMC3
6 protein binding GO:0005515 10.06 CDH15 DNMT1 ESPL1 HDAC8 IGF1R KDM1A

Sources for Kbg Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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