KBGS
MCID: KBG001
MIFTS: 55

Kbg Syndrome (KBGS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Kbg Syndrome

MalaCards integrated aliases for Kbg Syndrome:

Name: Kbg Syndrome 57 11 24 19 42 58 73 28 5 43 14 38 71 75
Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, and Skeletal Anomalies 57 42
Kbgs 57 73
Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, and Skeletal Anomalies 19
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome 42
Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, and Skeletal Anomalies 42
Short Stature-Facial and Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome 58

Characteristics:


Inheritance:

Autosomal dominant 58 57

Age Of Onset:

Adolescent,Childhood,Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
male to female ratio 21:8


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Kbg Syndrome

MedlinePlus Genetics: 42 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.A characteristic feature of KBG syndrome is unusually large upper front teeth (macrodontia). Other distinctive facial features include a wide, short skull (brachycephaly), a triangular face shape, widely spaced eyes (hypertelorism), wide eyebrows that may grow together in the middle (synophrys), a prominent nasal bridge, a long space between the nose and upper lip (long philtrum), and a thin upper lip.A common skeletal abnormality in people with KBG syndrome is slowed mineralization of bones (delayed bone age); for example, an affected 3-year-old child may have bones more typical of a child of 2. In addition, affected individuals can have abnormalities of the bones of the spine (vertebrae) and ribs. They can also have abnormalities of the bones of the hands or feet, including unusually short or curved fifth (pinky) fingers (brachydactyly or clinodactyly, respectively) and flat feet (pes planus). Most affected individuals are shorter than average from birth.Development of mental and movement abilities is also delayed in KBG syndrome. Most affected individuals learn to speak and walk later than normal and have mild to moderate intellectual disability. Most people with this condition have behavioral or emotional problems, such as hyperactivity; anxiety; or autism spectrum disorder, which is characterized by impaired communication and social interactions.Less common features of KBG syndrome include hearing loss, seizures, and heart defects.

MalaCards based summary: Kbg Syndrome, also known as macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies, is related to hypertelorism and 16q24.3 microdeletion syndrome. An important gene associated with Kbg Syndrome is ANKRD11 (Ankyrin Repeat Domain Containing 11), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and 22q11.2 copy number variation syndrome. Affiliated tissues include bone, heart and kidney, and related phenotypes are scoliosis and short neck

GARD: 19 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 genetic change 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.

OMIM®: 57 KBG syndrome (KBGS) 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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

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.

Orphanet: 58 A rare congenital malformation syndrome characterized by a typical facial dysmorphism, macrodontia of the permanent upper central incisors, short stature, skeletal anomalies, developmental delay and behavioral abnormalities.

Wikipedia: 75 KBG syndrome is a rare genetic disease that is the result of a mutation in the ANKRD11 gene at location... more...

GeneReviews: NBK487886

Related Diseases for Kbg Syndrome

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

(show top 50) (show all 118)
# Related Disease Score Top Affiliating Genes
1 hypertelorism 30.8 MECP2 KAT6B HDAC8 ANKRD11
2 16q24.3 microdeletion syndrome 30.4 ZNF778 ANKRD11
3 intellectual developmental disorder, autosomal dominant 23 30.4 SETD5 ANKRD11
4 autism 30.4 ZNF778 SMC1A SETD5 MECP2 KMT2A ANKRD11
5 autosomal dominant intellectual developmental disorder 30.4 SETD5 NIPBL ANKRD11
6 kabuki syndrome 1 30.3 TBX1 KMT2A KAT6B ANKRD11
7 noonan syndrome 1 30.2 TBX1 SMC1A NIPBL MECP2 KAT6B ANKRD11
8 cornelia de lange syndrome 1 30.1 SMC3 SMC1A RAD21 NIPBL KMT2A HDAC8
9 cornelia de lange syndrome 29.8 SMC3 SMC1A SETD5 RAD21 NIPBL MECP2
10 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
11 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.4 TRAPPC2L ANKRD11
12 cornelia de lange syndrome 5 10.4 KAT6B HDAC8
13 cornelia de lange syndrome 2 10.4 SMC1A NIPBL
14 epicanthus 10.4 KAT6B ANKRD11
15 glass syndrome 10.3 SMC1A NIPBL ANKRD11
16 rare genetic intellectual disability 10.3 KMT2A ANKRD11
17 chromosomal deletion syndrome 10.3 TBX1 MECP2 DGCR5
18 velocardiofacial syndrome 10.3 TBX1 MECP2 DGCR5
19 wiedemann-steiner syndrome 10.3 SMC3 SMC1A KMT2A
20 non-syndromic x-linked intellectual disability 93 10.3 KMT2A KAT6B
21 autosomal dominant intellectual developmental disorder 31 10.3 SMC1A NIPBL
22 cryptorchidism, unilateral or bilateral 10.3
23 syndromic x-linked intellectual disability nascimento type 10.3 KMT2A KAT6B
24 diaphragmatic hernia, congenital 10.3 SMC3 SMC1A NIPBL
25 warsaw breakage syndrome 10.3 SMC3 SMC1A RAD21 NIPBL
26 trichorhinophalangeal syndrome, type ii 10.3 SMC3 SMC1A RAD21 NIPBL
27 attention deficit-hyperactivity disorder 10.3
28 autism spectrum disorder 10.3
29 alpha-thalassemia 10.3 SMC3 SMC1A NIPBL MECP2
30 orofacial cleft 10.3 TBX1 SMC1A NIPBL DGCR5
31 rasopathy 10.3 TBX1 NIPBL MECP2 KAT6B ANKRD11
32 hypertrichosis 10.3 SMC3 SMC1A NIPBL KMT2A
33 chromosomal disease 10.3 TBX1 MECP2 DGCR5
34 rett syndrome 10.2 SMC3 SMC1A MECP2 HDAC8
35 atrial heart septal defect 10.2 TBX1 NIPBL HDAC8
36 brachydactyly 10.2
37 cornelia de lange syndrome 3 with or without midline brain defects 10.2 SMC3 SMC1A RAD21 NIPBL HDAC8
38 cornelia de lange syndrome 4 with or without midline brain defects 10.2 SMC3 SMC1A RAD21 NIPBL HDAC8
39 chronic atrial and intestinal dysrhythmia 10.2 SMC3 SMC1A RAD21 NIPBL HDAC8
40 roberts-sc phocomelia syndrome 10.2 SMC3 SMC1A RAD21 NIPBL HDAC8
41 chromosome 22q11.2 deletion syndrome, distal 10.2 TBX1 MECP2 DGCR5
42 chromosome 22q11.2 duplication syndrome 10.2 TBX1 DGCR5
43 cerebellar atrophy, developmental delay, and seizures 10.2
44 eyelid disease 10.2 SMC3 SMC1A RAD21 NIPBL KAT6B HDAC8
45 chromosome 16p13.3 deletion syndrome, proximal 10.2 SMC1A NIPBL MECP2 KMT2A KAT6B HDAC8
46 syndromic intellectual disability 10.2 SMC3 MECP2 KMT2A
47 tricuspid atresia 10.1 TBX1 CCDC142
48 tooth agenesis 10.1
49 refractive error 10.1
50 familial isolated trichomegaly 10.1 SMC3 SMC1A RAD21 NIPBL KMT2A HDAC8

Graphical network of the top 20 diseases related to Kbg Syndrome:



Diseases related to Kbg Syndrome

Symptoms & Phenotypes for Kbg Syndrome

Human phenotypes related to Kbg Syndrome:

58 30 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002650
2 short neck 58 30 Very rare (1%) Frequent (79-30%)
HP:0000470
3 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001263
4 delayed skeletal maturation 58 30 Very rare (1%) Frequent (79-30%)
HP:0002750
5 hypertelorism 58 30 Very rare (1%) Frequent (79-30%)
HP:0000316
6 macrotia 58 30 Very rare (1%) Frequent (79-30%)
HP:0000400
7 microcephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000252
8 anteverted nares 58 30 Very rare (1%) Frequent (79-30%)
HP:0000463
9 thick eyebrow 58 30 Frequent (33%) Frequent (79-30%)
HP:0000574
10 short stature 58 30 Very rare (1%) Frequent (79-30%)
HP:0004322
11 strabismus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000486
12 cleft palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000175
13 cryptorchidism 58 30 Very rare (1%) Frequent (79-30%)
HP:0000028
14 webbed neck 58 30 Very rare (1%) Frequent (79-30%)
HP:0000465
15 thin upper lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000219
16 long philtrum 58 30 Very rare (1%) Frequent (79-30%)
HP:0000343
17 prominent nasal bridge 58 30 Very rare (1%) Frequent (79-30%)
HP:0000426
18 telecanthus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000506
19 triangular face 58 30 Very rare (1%) Frequent (79-30%)
HP:0000325
20 vertebral fusion 58 30 Frequent (33%) Frequent (79-30%)
HP:0002948
21 underdeveloped nasal alae 58 30 Frequent (33%) Frequent (79-30%)
HP:0000430
22 synophrys 58 30 Very rare (1%) Frequent (79-30%)
HP:0000664
23 abnormal hair pattern 58 30 Frequent (33%) Frequent (79-30%)
HP:0010720
24 feeding difficulties 58 30 Frequent (33%) Frequent (79-30%)
HP:0011968
25 single transverse palmar crease 58 30 Frequent (33%) Frequent (79-30%)
HP:0000954
26 macrodontia 58 30 Very rare (1%) Frequent (79-30%)
HP:0001572
27 cervical ribs 58 30 Very rare (1%) Frequent (79-30%)
HP:0000891
28 oligodontia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000677
29 long palpebral fissure 58 30 Very rare (1%) Frequent (79-30%)
HP:0000637
30 bilateral conductive hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0008513
31 finger clinodactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0040019
32 thoracic kyphosis 58 30 Very rare (1%) Frequent (79-30%)
HP:0002942
33 cutaneous syndactyly 58 30 Very rare (1%) Frequent (79-30%)
HP:0012725
34 widely-spaced maxillary central incisors 58 30 Frequent (33%) Frequent (79-30%)
HP:0001566
35 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
36 eeg abnormality 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002353
37 round face 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000311
38 persistent open anterior fontanelle 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004474
39 congenital malformation of the left heart 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0045017
40 intellectual disability 30 Very rare (1%) HP:0001249
41 ptosis 30 Very rare (1%) HP:0000508
42 brachycephaly 30 Very rare (1%) HP:0000248
43 attention deficit hyperactivity disorder 30 Very rare (1%) HP:0007018
44 low posterior hairline 30 Very rare (1%) HP:0002162
45 downslanted palpebral fissures 30 Very rare (1%) HP:0000494
46 clinodactyly of the 5th finger 30 Very rare (1%) HP:0004209
47 protruding ear 30 Very rare (1%) HP:0000411
48 low anterior hairline 30 Very rare (1%) HP:0000294
49 pointed chin 30 Very rare (1%) HP:0000307
50 tented upper lip vermilion 30 Very rare (1%) HP:0010804

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
hypertelorism
telecanthus
long palpebral fissures
broad bushy eyebrows

Head And Neck Nose:
anteverted nares
hypoplastic alae nasi

Skin Nails Hair Hair:
low posterior hairline
low anterior hairline
broad bushy eyebrows

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

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

Skin Nails Hair Skin:
simian crease

Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Skeletal Hands:
clinodactyly
syndactyly
decreased hand length

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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Kbg Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.87 ANKRD11 KAT6B KMT2A MECP2 NIPBL SETD5
2 embryo MP:0005380 9.86 AFF4 ANKRD11 HDAC8 KMT2A MECP2 NIPBL
3 craniofacial MP:0005382 9.85 AFF4 ANKRD11 HDAC8 KAT6B KMT2A MECP2
4 skeleton MP:0005390 9.73 AFF4 ANKRD11 CPNE7 HDAC8 KAT6B KMT2A
5 mortality/aging MP:0010768 9.44 AFF4 ANKRD11 HDAC8 KAT6B KMT2A 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:

# Genetic test Affiliating Genes
1 Kbg Syndrome 28 ANKRD11

Anatomical Context for Kbg Syndrome

Organs/tissues related to Kbg Syndrome:

MalaCards : Bone, Heart, Kidney

Publications for Kbg Syndrome

Articles related to Kbg Syndrome:

(show top 50) (show all 139)
# Title Authors PMID Year
1
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 62 24 57 5
21782149 2011
2
KBG syndrome in a cohort of Italian patients. 62 24 57 5
15523620 2004
3
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. 62 57 5
25125236 2014
4
The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype. 62 57 5
15378538 2004
5
Clinical and genetic aspects of KBG syndrome. 62 24 5
27667800 2016
6
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. 62 24 5
27605097 2016
7
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. 62 24 5
25424714 2015
8
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 62 24 5
25413698 2015
9
KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria. 62 24 57
17230487 2007
10
Clinical variability in KBG syndrome: report of three unrelated families. 62 24 57
15384099 2004
11
Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria. 62 24 57
7810561 1994
12
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients. 62 5
35970914 2022
13
Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant. 62 57
35394473 2022
14
Congenital heart defects in molecularly confirmed KBG syndrome patients. 62 57
34971082 2022
15
Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature. 62 5
35330407 2022
16
ANKRD11 variants: KBG syndrome and beyond. 62 5
33955014 2021
17
KBG syndrome: Common and uncommon clinical features based on 31 new patients. 62 57
32124548 2020
18
Novel Mutations and Unreported Clinical Features in KBG Syndrome. 62 5
31191201 2019
19
KBG Syndrome 62 5
29565525 2018
20
KBG syndrome. 62 5
29258554 2017
21
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 62 5
25652421 2016
22
A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion. 62 5
25464108 2015
23
The KBG syndrome. 62 57
10826617 2000
24
Further delineation of the KBG syndrome. 62 57
9777340 1998
25
The KBG syndrome: follow-up data on three affected brothers. 62 57
7834892 1994
26
Mental retardation, short stature, minor skeletal anomalies, craniofacial dysmorphism and macrodontia in two sisters and their mother. Another variant example of the KBG syndrome? 62 57
6467660 1984
27
Whole genome sequencing of 45 Japanese patients with intellectual disability. 5
33624935 2021
28
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 5
32238909 2020
29
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data. 5
31607427 2019
30
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders. 5
30945278 2019
31
Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate. 5
30202406 2018
32
ANKRD11 associated with intellectual disability and autism regulates dendrite differentiation via the BDNF/TrkB signaling pathway. 62 24
29274743 2018
33
The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder. 62 24
29375862 2018
34
KBG syndrome: An Australian experience. 62 24
28449295 2017
35
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 62 24
28422132 2017
36
Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study. 62 24
29311865 2017
37
De novo genic mutations among a Chinese autism spectrum disorder cohort. 5
27824329 2016
38
Clinical application of whole-exome sequencing across clinical indications. 5
26633542 2016
39
Molecular diagnostic experience of whole-exome sequencing in adult patients. 5
26633545 2016
40
Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene. 62 24
25543316 2015
41
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 5
25356970 2015
42
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 5
25741868 2015
43
Large-scale discovery of novel genetic causes of developmental disorders. 5
25533962 2015
44
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome. 62 24
25838844 2015
45
Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment. 62 24
25833229 2015
46
A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome. 62 24
25187894 2014
47
A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome. 62 24
23463723 2013
48
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. 62 24
23494856 2013
49
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. 62 24
23184435 2013
50
Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome. 62 24
22307766 2012

Variations for Kbg Syndrome

ClinVar genetic disease variations for Kbg Syndrome:

5 (show top 50) (show all 610)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ANKRD11 NM_013275.6(ANKRD11):c.7570-1G>C SNV Pathogenic
30890 rs863223319 GRCh37: 16:89341366-89341366
GRCh38: 16:89274958-89274958
2 ANKRD11 NM_013275.6(ANKRD11):c.2305del (p.Ser769fs) DEL Pathogenic
30891 rs863223320 GRCh37: 16:89350645-89350645
GRCh38: 16:89284237-89284237
3 ANKRD11 NM_013275.6(ANKRD11):c.5953_5954del (p.Gln1985fs) MICROSAT Pathogenic
30892 rs863223321 GRCh37: 16:89346996-89346997
GRCh38: 16:89280588-89280589
4 ANKRD11 NM_013275.6(ANKRD11):c.6472G>T (p.Glu2158Ter) SNV Pathogenic
224159 rs869312713 GRCh37: 16:89346478-89346478
GRCh38: 16:89280070-89280070
5 ANKRD11 NM_001256182:c.7545delG DEL Pathogenic
246603 GRCh37:
GRCh38:
6 ANKRD11 NM_013275.6(ANKRD11):c.3122C>A (p.Ser1041Ter) SNV Pathogenic
374273 rs1057518663 GRCh37: 16:89349828-89349828
GRCh38: 16:89283420-89283420
7 ANKRD11 NM_013275.6(ANKRD11):c.5504del (p.Leu1835fs) DEL Pathogenic
375614 rs1057519399 GRCh37: 16:89347446-89347446
GRCh38: 16:89281038-89281038
8 ANKRD11 NM_013275.6(ANKRD11):c.6212C>G (p.Ser2071Ter) SNV Pathogenic
375613 rs763407068 GRCh37: 16:89346738-89346738
GRCh38: 16:89280330-89280330
9 ANKRD11 NM_013275.6(ANKRD11):c.6786_6787insA (p.Pro2263fs) INSERT Pathogenic
431147 rs1135401815 GRCh37: 16:89346163-89346164
GRCh38: 16:89279755-89279756
10 ANKRD11 NM_013275.6(ANKRD11):c.2647G>T (p.Glu883Ter) SNV Pathogenic
431133 rs1135401804 GRCh37: 16:89350303-89350303
GRCh38: 16:89283895-89283895
11 ANKRD11 NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter) SNV Pathogenic
441154 rs1221781038 GRCh37: 16:89346103-89346103
GRCh38: 16:89279695-89279695
12 ANKRD11 NM_013275.6(ANKRD11):c.6197_6198delinsAA (p.Phe2066Ter) INDEL Pathogenic
458786 rs1555525977 GRCh37: 16:89346752-89346753
GRCh38: 16:89280344-89280345
13 ANKRD11 NM_013275.6(ANKRD11):c.3562C>T (p.Arg1188Ter) SNV Pathogenic
280480 rs761848111 GRCh37: 16:89349388-89349388
GRCh38: 16:89282980-89282980
14 ANKRD11 NM_013275.6(ANKRD11):c.1462_1463del (p.Ser488fs) MICROSAT Pathogenic
522136 rs1555529645 GRCh37: 16:89351487-89351488
GRCh38: 16:89285079-89285080
15 ANKRD11 NM_013275.6(ANKRD11):c.1948C>T (p.Gln650Ter) SNV Pathogenic
560939 rs1567579525 GRCh37: 16:89351002-89351002
GRCh38: 16:89284594-89284594
16 ANKRD11 NM_013275.6(ANKRD11):c.2047_2048del (p.Lys683fs) DEL Pathogenic
560940 rs1567579092 GRCh37: 16:89350902-89350903
GRCh38: 16:89284494-89284495
17 ANKRD11 NM_013275.6(ANKRD11):c.3770_3773del (p.Lys1257fs) DEL Pathogenic
560941 rs1567571990 GRCh37: 16:89349177-89349180
GRCh38: 16:89282769-89282772
18 ANKRD11 NM_013275.6(ANKRD11):c.5065del (p.Leu1689fs) DEL Pathogenic
560942 rs1567566026 GRCh37: 16:89347885-89347885
GRCh38: 16:89281477-89281477
19 ANKRD11 NM_013275.6(ANKRD11):c.893-1G>C SNV Pathogenic
560944 rs1567583835 GRCh37: 16:89352058-89352058
GRCh38: 16:89285650-89285650
20 ANKRD11 NM_013275.6(ANKRD11):c.3198_3199del (p.His1066fs) DEL Pathogenic
619978 GRCh37: 16:89349751-89349752
GRCh38: 16:89283343-89283344
21 KAT6B NM_012330.4(KAT6B):c.2408_2412del (p.Asn803fs) DEL Pathogenic
620054 GRCh37: 10:76744872-76744876
GRCh38: 10:74985114-74985118
22 ANKRD11 NM_013275.6(ANKRD11):c.6742C>T (p.Gln2248Ter) SNV Pathogenic
691266 rs1597435896 GRCh37: 16:89346208-89346208
GRCh38: 16:89279800-89279800
23 ANKRD11 NM_013275.6(ANKRD11):c.1621C>T (p.Gln541Ter) SNV Pathogenic
694688 rs1156815415 GRCh37: 16:89351329-89351329
GRCh38: 16:89284921-89284921
24 ANKRD11 NM_013275.6(ANKRD11):c.6210_6211del (p.Lys2070fs) DEL Pathogenic
217797 rs863225257 GRCh37: 16:89346739-89346740
GRCh38: 16:89280331-89280332
25 ANKRD11 NM_013275.6(ANKRD11):c.2826_2829del (p.Arg942fs) MICROSAT Pathogenic
694698 rs1597459077 GRCh37: 16:89350121-89350124
GRCh38: 16:89283713-89283716
26 ANKRD11 NM_013275.6(ANKRD11):c.4270del (p.Ser1424fs) DEL Pathogenic
694706 rs1597452422 GRCh37: 16:89348680-89348680
GRCh38: 16:89282272-89282272
27 ANKRD11 NM_013275.6(ANKRD11):c.6807_6808del (p.Ala2270fs) MICROSAT Pathogenic
807370 rs1597435393 GRCh37: 16:89346142-89346143
GRCh38: 16:89279734-89279735
28 ANKRD11 NM_013275.6(ANKRD11):c.2704G>T (p.Glu902Ter) SNV Pathogenic
807372 rs1597459649 GRCh37: 16:89350246-89350246
GRCh38: 16:89283838-89283838
29 ANKRD11 NM_013275.6(ANKRD11):c.1679C>G (p.Ser560Ter) SNV Pathogenic
559634 rs1555529551 GRCh37: 16:89351271-89351271
GRCh38: 16:89284863-89284863
30 ANKRD11 NM_013275.6(ANKRD11):c.618del (p.His206fs) DEL Pathogenic
666557 rs1597477691 GRCh37: 16:89355062-89355062
GRCh38: 16:89288654-89288654
31 ANKRD11 NM_013275.6(ANKRD11):c.7571A>G (p.Glu2524Gly) SNV Pathogenic
812187 rs2033513257 GRCh37: 16:89341364-89341364
GRCh38: 16:89274956-89274956
32 ANKRD11 NM_013275.6(ANKRD11):c.3933_3945del (p.Gly1312_Gln1313insTer) DEL Pathogenic
857946 rs2034351295 GRCh37: 16:89349005-89349017
GRCh38: 16:89282597-89282609
33 ANKRD11 NM_013275.6(ANKRD11):c.1800dup (p.Arg601fs) DUP Pathogenic
932062 rs2034524807 GRCh37: 16:89351149-89351150
GRCh38: 16:89284741-89284742
34 ANKRD11 NM_013275.6(ANKRD11):c.3367_3368del (p.Glu1122_Ser1123insTer) MICROSAT Pathogenic
960807 rs2034404764 GRCh37: 16:89349582-89349583
GRCh38: 16:89283174-89283175
35 ANKRD11 NM_013275.6(ANKRD11):c.6968_6975dup (p.Ala2326fs) DUP Pathogenic
973258 rs1555525115 GRCh37: 16:89345974-89345975
GRCh38: 16:89279566-89279567
36 ANKRD11 NM_013275.6(ANKRD11):c.3948del (p.Gly1316_Leu1317insTer) DEL Pathogenic
973259 rs2034350757 GRCh37: 16:89349002-89349002
GRCh38: 16:89282594-89282594
37 ANKRD11 NM_013275.6(ANKRD11):c.2618_2619del (p.Val873fs) MICROSAT Pathogenic
975179 rs2034464059 GRCh37: 16:89350331-89350332
GRCh38: 16:89283923-89283924
38 ANKRD11 NM_013275.6(ANKRD11):c.7103_7106del (p.Arg2368fs) DEL Pathogenic
975180 rs2033967776 GRCh37: 16:89345844-89345847
GRCh38: 16:89279436-89279439
39 ANKRD11 NM_013275.6(ANKRD11):c.1801C>T (p.Arg601Ter) SNV Pathogenic
280209 rs772229371 GRCh37: 16:89351149-89351149
GRCh38: 16:89284741-89284741
40 ANKRD11 NM_013275.6(ANKRD11):c.1896_1897del (p.His632fs) DEL Pathogenic
979195 rs2034516672 GRCh37: 16:89351053-89351054
GRCh38: 16:89284645-89284646
41 SETD5 NM_001080517.3(SETD5):c.2268del (p.Arg757fs) DEL Pathogenic
981700 rs2042271732 GRCh37: 3:9490235-9490235
GRCh38: 3:9448551-9448551
42 SETD5 NM_001080517.3(SETD5):c.2143C>T (p.Gln715Ter) SNV Pathogenic
981702 rs925484505 GRCh37: 3:9490111-9490111
GRCh38: 3:9448427-9448427
43 ANKRD11 NM_013275.6(ANKRD11):c.1385_1388del (p.Thr462fs) DEL Pathogenic
981705 rs2034559427 GRCh37: 16:89351562-89351565
GRCh38: 16:89285154-89285157
44 ANKRD11 NM_013275.6(ANKRD11):c.2299A>T (p.Lys767Ter) SNV Pathogenic
981706 rs2034488113 GRCh37: 16:89350651-89350651
GRCh38: 16:89284243-89284243
45 ANKRD11 NM_013275.6(ANKRD11):c.2350G>T (p.Glu784Ter) SNV Pathogenic
981707 rs2034483683 GRCh37: 16:89350600-89350600
GRCh38: 16:89284192-89284192
46 ANKRD11 NM_013275.6(ANKRD11):c.249del (p.Arg84fs) DEL Pathogenic
981708 rs2035039338 GRCh37: 16:89357569-89357569
GRCh38: 16:89291161-89291161
47 ANKRD11 NM_013275.6(ANKRD11):c.3066del (p.Thr1023fs) DEL Pathogenic
981710 rs2034426153 GRCh37: 16:89349884-89349884
GRCh38: 16:89283476-89283476
48 ANKRD11 NM_013275.6(ANKRD11):c.4786G>T (p.Glu1596Ter) SNV Pathogenic
981714 rs2034270521 GRCh37: 16:89348164-89348164
GRCh38: 16:89281756-89281756
49 TBX1 NM_001379200.1(TBX1):c.652del (p.Gln218fs) DEL Pathogenic
981736 rs1936760837 GRCh37: 22:19751790-19751790
GRCh38: 22:19764267-19764267
50 ANKRD11 NM_013275.6(ANKRD11):c.7311_7314dup (p.Phe2439fs) DUP Pathogenic
981743 rs2033941632 GRCh37: 16:89345635-89345636
GRCh38: 16:89279227-89279228

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 chromosome GO:0005694 9.81 SMC3 SMC1A SETD5 RAD21 NIPBL HDAC8
2 cohesin complex GO:0008278 9.43 SMC3 SMC1A RAD21
3 DNA packaging complex GO:0044815 9.26 SMC3 SMC1A
4 meiotic cohesin complex GO:0030893 9.02 SMC3 SMC1A RAD21

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

# Name GO ID Score Top Affiliating Genes
1 cognition GO:0050890 9.83 SETD5 NIPBL KMT2A
2 face morphogenesis GO:0060325 9.8 TBX1 NIPBL ANKRD11
3 embryonic viscerocranium morphogenesis GO:0048703 9.76 TBX1 NIPBL
4 mitotic sister chromatid cohesion GO:0007064 9.73 NIPBL SMC1A SMC3
5 replication-born double-strand break repair via sister chromatid exchange GO:1990414 9.71 RAD21 NIPBL
6 ear morphogenesis GO:0042471 9.67 TBX1 NIPBL
7 establishment of meiotic sister chromatid cohesion GO:0034089 9.63 SMC3 SMC1A RAD21
8 sister chromatid cohesion GO:0007062 9.56 SMC3 SMC1A RAD21 HDAC8
9 establishment of mitotic sister chromatid cohesion GO:0034087 9.23 SMC3 SMC1A RAD21 NIPBL

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

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.73 SMC3 SMC1A RAD21 NIPBL MECP2 KMT2A
2 mediator complex binding GO:0036033 9.1 SMC3 SMC1A NIPBL

Sources for Kbg Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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