KBGS
MCID: KBG001
MIFTS: 49

Kbg Syndrome (KBGS)

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

Aliases & Classifications for Kbg Syndrome

MalaCards integrated aliases for Kbg Syndrome:

Name: Kbg Syndrome 56 12 24 52 25 58 73 36 29 13 6 43 15 71
Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, and Skeletal Anomalies 56 25
Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, and Skeletal Anomalies 52 25
Kbgs 56 73
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome 25
Macrodontia Mental Retardation Characteristic Facies Short Stature and Skeletal Anomalies 73
Short Stature-Facial and Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome 58
Syndrome, Kbg 39

Characteristics:

Orphanet epidemiological data:

58
kbg syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
male to female ratio 21:8


HPO:

31
kbg syndrome:
Inheritance autosomal dominant inheritance


Classifications:

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


Summaries for Kbg Syndrome

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. 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 16q24.3 microdeletion syndrome and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Kbg Syndrome is ANKRD11 (Ankyrin Repeat Domain 11), and among its related pathways/superpathways are Chromatin organization and Chromatin Regulation / Acetylation. Affiliated tissues include bone, heart and eye, and related phenotypes are hypertelorism and short neck

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.

NIH Rare Diseases : 52 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 .

OMIM : 56 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)

KEGG : 36 KBG syndrome is characterized by intellectual disability, skeletal malformations, and macrodontia. It has been reported that mutations in ANKRD11 cause this disease.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 KBG syndrome is a genetic disease that is the result of a mutation in the ANKRD11 gene. Features include... 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 57)
# Related Disease Score Top Affiliating Genes
1 16q24.3 microdeletion syndrome 30.0 ZNF778 CDH15 ANKRD11
2 alacrima, achalasia, and mental retardation syndrome 10.6
3 cryptorchidism, unilateral or bilateral 10.3
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
5 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2 TRAPPC2L ANKRD11
6 strabismus 10.1
7 autism 10.1
8 brachydactyly 10.1
9 autism spectrum disorder 10.1
10 mechanical strabismus 10.1
11 epicanthus 10.0 KAT6B ANKRD11
12 astigmatism 10.0
13 spastic paraplegia 7, autosomal recessive 10.0
14 thrombocytopenia 10.0
15 learning disability 10.0
16 gastroesophageal reflux 10.0
17 cleft palate, isolated 10.0
18 coffin-siris syndrome 1 10.0
19 hypertelorism 10.0
20 kabuki syndrome 1 10.0
21 neurofibromatosis, type iv, of riccardi 10.0
22 obsessive-compulsive disorder 10.0
23 otitis media 10.0
24 palatopharyngeal incompetence 10.0
25 chromosome 2q35 duplication syndrome 10.0
26 epileptic encephalopathy, early infantile, 6 10.0
27 rhabdoid tumor predisposition syndrome 1 10.0
28 pseudopseudohypoparathyroidism 10.0
29 neurodegeneration due to cerebral folate transport deficiency 10.0
30 cleft palate, psychomotor retardation, and distinctive facial features 10.0
31 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.0
32 west syndrome 10.0
33 periventricular nodular heterotopia 10.0
34 tooth agenesis 10.0
35 infective endocarditis 10.0
36 pain agnosia 10.0
37 generalized epilepsy with febrile seizures plus 10.0
38 basal ganglia calcification 10.0
39 scoliosis 10.0
40 endocarditis 10.0
41 microcephaly 10.0
42 acrodysostosis 10.0
43 rheumatic fever 10.0
44 ventricular septal defect 10.0
45 heart septal defect 10.0
46 rhabdoid cancer 10.0
47 speech disorder 10.0
48 refractive error 10.0
49 precocious puberty 10.0
50 febrile seizures 10.0

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 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
2 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
3 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
4 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
5 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
6 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
7 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
8 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
9 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
10 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
11 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
12 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
13 thick eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0000574
14 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
15 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
16 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
17 webbed neck 58 31 frequent (33%) Frequent (79-30%) HP:0000465
18 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
19 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
20 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000219
21 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
22 long palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000637
23 thoracic kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002942
24 vertebral fusion 58 31 frequent (33%) Frequent (79-30%) HP:0002948
25 triangular face 58 31 frequent (33%) Frequent (79-30%) HP:0000325
26 abnormal hair pattern 58 31 frequent (33%) Frequent (79-30%) HP:0010720
27 finger clinodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0040019
28 bilateral conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0008513
29 single transverse palmar crease 58 31 frequent (33%) Frequent (79-30%) HP:0000954
30 macrodontia 58 31 frequent (33%) Frequent (79-30%) HP:0001572
31 cervical ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000891
32 oligodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000677
33 widely-spaced maxillary central incisors 58 31 frequent (33%) Frequent (79-30%) HP:0001566
34 cutaneous syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0012725
35 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
36 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
37 round face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000311
38 persistent open anterior fontanelle 58 31 occasional (7.5%) Occasional (29-5%) HP:0004474
39 congenital malformation of the left heart 58 31 occasional (7.5%) Occasional (29-5%) HP:0045017
40 clinodactyly 31 HP:0030084
41 intellectual disability 31 HP:0001249
42 low posterior hairline 31 HP:0002162
43 low anterior hairline 31 HP:0000294
44 rib fusion 31 HP:0000902
45 radial deviation of finger 31 HP:0009466
46 syndactyly 31 HP:0001159
47 abnormality of skeletal morphology 58 Frequent (79-30%)
48 vertebral arch anomaly 31 HP:0008438

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
telecanthus
long palpebral fissures
broad bushy eyebrows

Genitourinary Internal Genitalia Male:
cryptorchidism

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

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

Skeletal Hands:
clinodactyly
syndactyly
decreased hand length

Head And Neck Head:
microcephaly

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

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

MGI Mouse Phenotypes related to Kbg Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.23 ANKRD11 BTAF1 INTS10 KDM1A KDM6A KMT2D

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 29 ANKRD11

Anatomical Context for Kbg Syndrome

MalaCards organs/tissues related to Kbg Syndrome:

40
Bone, Heart, Eye, Testes

Publications for Kbg Syndrome

Articles related to Kbg Syndrome:

(show top 50) (show all 79)
# Title Authors PMID Year
1
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 61 24 56 6
21782149 2011
2
KBG syndrome in a cohort of Italian patients. 61 24 56 6
15523620 2004
3
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. 61 56 6
25125236 2014
4
The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype. 61 56 6
15378538 2004
5
KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria. 61 24 56
17230487 2007
6
Clinical variability in KBG syndrome: report of three unrelated families. 61 24 56
15384099 2004
7
Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria. 61 24 56
7810561 1994
8
KBG Syndrome 61 6
29565525 2018
9
The KBG syndrome. 61 56
10826617 2000
10
Further delineation of the KBG syndrome. 61 56
9777340 1998
11
The KBG syndrome: follow-up data on three affected brothers. 61 56
7834892 1994
12
Mental retardation, short stature, minor skeletal anomalies, craniofacial dysmorphism and macrodontia in two sisters and their mother. Another variant example of the KBG syndrome? 61 56
6467660 1984
13
ANKRD11 associated with intellectual disability and autism regulates dendrite differentiation via the BDNF/TrkB signaling pathway. 61 24
29274743 2018
14
The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder. 61 24
29375862 2018
15
KBG syndrome: An Australian experience. 61 24
28449295 2017
16
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 61 24
28422132 2017
17
Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study. 61 24
29311865 2017
18
Clinical and genetic aspects of KBG syndrome. 61 24
27667800 2016
19
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. 61 24
27605097 2016
20
Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene. 61 24
25543316 2015
21
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. 61 24
25424714 2015
22
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 61 24
25413698 2015
23
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome. 61 24
25838844 2015
24
Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment. 61 24
25833229 2015
25
A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome. 61 24
25187894 2014
26
A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome. 61 24
23463723 2013
27
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. 61 24
23494856 2013
28
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. 61 24
23184435 2013
29
Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome. 61 24
22307766 2012
30
KBG syndrome associated with periventricular nodular heterotopia. 61 24
20354438 2010
31
KBG syndrome: review of the literature and findings of 5 affected patients. 61 24
19716495 2009
32
Short stature, craniofacial dysmorphism and dento-skeletal abnormalities in a large kindred. A variant of K.B.G. syndrome or a new mental retardation syndrome. 56
589847 1977
33
The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. 61 24
1218237 1975
34
Medical management of epileptic seizures: challenges and solutions. 24
26966367 2016
35
Ankrd11 is a chromatin regulator involved in autism that is essential for neural development. 24
25556659 2015
36
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. 24
23335808 2013
37
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. 24
19920853 2010
38
Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape. 61
32030560 2020
39
A heterozygous point mutation of the ANKRD11 (c.2579C>T) in a Chinese patient with idiopathic short stature. 61
31566922 2019
40
Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG syndrome. 61
31703437 2019
41
Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome. 61
31567426 2019
42
KBG syndrome presenting with brachydactyly type E. 61
30877071 2019
43
Novel Mutations and Unreported Clinical Features in KBG Syndrome. 61
31191201 2019
44
Exploring the behavioral and cognitive phenotype of KBG syndrome. 61
30786142 2019
45
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report. 61
30642272 2019
46
Comparison of Blood Loss and Meat Quality Characteristics in Korean Black Goat Subjected to Head-Only Electrical Stunning or without Stunning. 61
30675121 2018
47
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11. 61
30088855 2018
48
KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition? 61
29696793 2018
49
Needle breakage during an inferior alveolar nerve block in a child with KBG syndrome: A case report. 61
29589253 2018
50
[The first Danish patient with a recognisable genetic KBG syndrome]. 61
29530238 2018

Variations for Kbg Syndrome

ClinVar genetic disease variations for Kbg Syndrome:

6 (show top 50) (show all 82) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ANKRD11 NM_013275.6(ANKRD11):c.6472G>T (p.Glu2158Ter)SNV Pathogenic 224159 rs869312713 16:89346478-89346478 16:89280070-89280070
2 ANKRD11 NM_013275.6(ANKRD11):c.7570-1G>CSNV Pathogenic 30890 rs863223319 16:89341366-89341366 16:89274958-89274958
3 ANKRD11 NM_013275.6(ANKRD11):c.2305del (p.Ser769fs)deletion Pathogenic 30891 rs863223320 16:89350645-89350645 16:89284237-89284237
4 ANKRD11 NM_013275.6(ANKRD11):c.5951_5952CA[1] (p.Gln1985fs)short repeat Pathogenic 30892 rs863223321 16:89346996-89346997 16:89280588-89280589
5 ANKRD11 NM_013275.6(ANKRD11):c.6792del (p.Ala2265fs)deletion Pathogenic 242348 rs878855327 16:89346158-89346158 16:89279750-89279750
6 ANKRD11 NM_013275.6(ANKRD11):c.6015dup (p.Gly2006fs)duplication Pathogenic 242976 rs879253753 16:89346934-89346935 16:89280526-89280527
7 ANKRD11 NM_001256182:c.7545delGundetermined variant Pathogenic 246603
8 ANKRD11 NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs)deletion Pathogenic 265324 rs886039477 16:89349179-89349180 16:89282771-89282772
9 ANKRD11 NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs)deletion Pathogenic 209131 rs797045027 16:89350549-89350552 16:89284141-89284144
10 ANKRD11 NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs)deletion Pathogenic 266033 rs886039902 16:89350538-89350542 16:89284130-89284134
11 ANKRD11 NM_013275.6(ANKRD11):c.3562C>T (p.Arg1188Ter)SNV Pathogenic 280480 rs761848111 16:89349388-89349388 16:89282980-89282980
12 ANKRD11 NM_013275.6(ANKRD11):c.3122C>A (p.Ser1041Ter)SNV Pathogenic 374273 rs1057518663 16:89349828-89349828 16:89283420-89283420
13 ANKRD11 NM_013275.6(ANKRD11):c.3220_3223AAAG[1] (p.Glu1075fs)short repeat Pathogenic 420179 rs1064794330 16:89349723-89349726 16:89283315-89283318
14 ANKRD11 NM_013275.6(ANKRD11):c.6786_6787insA (p.Pro2263fs)insertion Pathogenic 431147 rs1135401815 16:89346163-89346164 16:89279755-89279756
15 ANKRD11 NM_013275.6(ANKRD11):c.2647G>T (p.Glu883Ter)SNV Pathogenic 431133 rs1135401804 16:89350303-89350303 16:89283895-89283895
16 ANKRD11 NM_013275.6(ANKRD11):c.6670G>T (p.Glu2224Ter)SNV Pathogenic 434197 rs1381957912 16:89346280-89346280 16:89279872-89279872
17 ANKRD11 NM_013275.6(ANKRD11):c.3632_3633del (p.Lys1211fs)deletion Pathogenic 434198 rs1555528400 16:89349317-89349318 16:89282909-89282910
18 ANKRD11 NM_013275.6(ANKRD11):c.6212C>G (p.Ser2071Ter)SNV Pathogenic 375613 rs763407068 16:89346738-89346738 16:89280330-89280330
19 ANKRD11 NM_013275.6(ANKRD11):c.5504del (p.Leu1835fs)deletion Pathogenic 375614 rs1057519399 16:89347446-89347446 16:89281038-89281038
20 ANKRD11 NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter)SNV Pathogenic 441154 rs1221781038 16:89346103-89346103 16:89279695-89279695
21 ANKRD11 NM_013275.6(ANKRD11):c.6197_6198delinsAA (p.Phe2066Ter)indel Pathogenic 458786 rs1555525977 16:89346752-89346753 16:89280344-89280345
22 ANKRD11 NM_013275.6(ANKRD11):c.6210_6211del (p.Lys2070fs)deletion Pathogenic 217797 rs863225257 16:89346739-89346740 16:89280331-89280332
23 ANKRD11 NM_013275.6(ANKRD11):c.1458_1459AG[2] (p.Ser488fs)short repeat Pathogenic 522136 rs1555529645 16:89351487-89351488 16:89285079-89285080
24 ANKRD11 NM_013275.6(ANKRD11):c.5065del (p.Leu1689fs)deletion Pathogenic 560942 rs1567566026 16:89347885-89347885 16:89281477-89281477
25 ANKRD11 NM_013275.6(ANKRD11):c.3770_3773del (p.Lys1257fs)deletion Pathogenic 560941 rs1567571990 16:89349177-89349180 16:89282769-89282772
26 ANKRD11 NM_013275.6(ANKRD11):c.2047_2048del (p.Lys683fs)deletion Pathogenic 560940 rs1567579092 16:89350902-89350903 16:89284494-89284495
27 ANKRD11 NM_013275.6(ANKRD11):c.1948C>T (p.Gln650Ter)SNV Pathogenic 560939 rs1567579525 16:89351002-89351002 16:89284594-89284594
28 ANKRD11 NM_013275.6(ANKRD11):c.893-1G>CSNV Pathogenic 560944 rs1567583835 16:89352058-89352058 16:89285650-89285650
29 ANKRD11 NM_013275.6(ANKRD11):c.867C>A (p.Tyr289Ter)SNV Pathogenic 560943 rs761636251 16:89352472-89352472 16:89286064-89286064
30 ANKRD11 NC_000016.9:g.(?_89334866)_(89383447_?)deldeletion Pathogenic 583986 16:89334866-89383447 16:89268458-89317039
31 ANKRD11 NM_013275.6(ANKRD11):c.6968_6975del (p.Ala2323fs)deletion Pathogenic 546454 rs1555525115 16:89345975-89345982 16:89279567-89279574
32 ANKRD11 NM_013275.6(ANKRD11):c.2404_2407del (p.Leu802fs)deletion Pathogenic 547949 rs1555529181 16:89350543-89350546 16:89284135-89284138
33 ANKRD11 NM_013275.6(ANKRD11):c.1679C>G (p.Ser560Ter)SNV Pathogenic 559634 rs1555529551 16:89351271-89351271 16:89284863-89284863
34 ANKRD11 NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter)SNV Pathogenic 579848 rs749632782 16:89348744-89348744 16:89282336-89282336
35 ANKRD11 NC_000016.9:g.(?_89334866)_(89355098_?)deldeletion Pathogenic 584373 16:89334866-89355098 16:89268458-89288690
36 KAT6B NM_012330.4(KAT6B):c.2408_2412del (p.Asn803fs)deletion Pathogenic 620054 rs1564606246 10:76744872-76744876 10:74985114-74985118
37 ANKRD11 NM_013275.6(ANKRD11):c.3198_3199del (p.His1066fs)deletion Pathogenic 619978 rs1567574291 16:89349751-89349752 16:89283343-89283344
38 ANKRD11 NM_013275.6(ANKRD11):c.3708_3709del (p.Lys1237fs)deletion Pathogenic 565310 rs1567572265 16:89349241-89349242 16:89282833-89282834
39 ANKRD11 NM_013275.6(ANKRD11):c.5682dup (p.Arg1895fs)duplication Pathogenic 658274 16:89347267-89347268 16:89280859-89280860
40 ANKRD11 NM_013275.6(ANKRD11):c.6742C>T (p.Gln2248Ter)SNV Pathogenic 691266 16:89346208-89346208 16:89279800-89279800
41 ANKRD11 NM_013275.6(ANKRD11):c.4270del (p.Ser1424fs)deletion Pathogenic 694706 16:89348680-89348680 16:89282272-89282272
42 ANKRD11 NM_013275.6(ANKRD11):c.2824_2825AG[1] (p.Arg942fs)short repeat Pathogenic 694698 16:89350121-89350124 16:89283713-89283716
43 ANKRD11 NM_013275.6(ANKRD11):c.1621C>T (p.Gln541Ter)SNV Pathogenic 694688 16:89351329-89351329 16:89284921-89284921
44 ANKRD11 NM_013275.6(ANKRD11):c.1372C>T (p.Arg458Ter)SNV Pathogenic 694682 16:89351578-89351578 16:89285170-89285170
45 ANKRD11 NM_013275.6(ANKRD11):c.6805_6806TG[1] (p.Ala2270fs)short repeat Pathogenic 807370 16:89346142-89346143 16:89279734-89279735
46 ANKRD11 NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter)SNV Pathogenic 807371 16:89350234-89350234 16:89283826-89283826
47 ANKRD11 NM_013275.6(ANKRD11):c.2704G>T (p.Glu902Ter)SNV Pathogenic 807372 16:89350246-89350246 16:89283838-89283838
48 ANKRD11 NM_013275.6(ANKRD11):c.2454dup (p.Asn819Ter)duplication Pathogenic 645982 16:89350495-89350496 16:89284087-89284088
49 ANKRD11 NM_013275.6(ANKRD11):c.2273_2274del (p.Leu758fs)deletion Pathogenic 650001 16:89350676-89350677 16:89284268-89284269
50 ANKRD11 NM_013275.6(ANKRD11):c.618del (p.His206fs)deletion Pathogenic 666557 16:89355062-89355062 16:89288654-89288654

Expression for Kbg Syndrome

Search GEO for disease gene expression data for Kbg Syndrome.

Pathways for Kbg Syndrome

Pathways related to Kbg Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.2 PHF21A KMT2D KDM6A KDM1A KAT6B
2 11.33 MECP2 KDM6A KDM1A BTAF1

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 nucleus GO:0005634 10.18 ZNF778 ZNF329 PHF21A MECP2 KMT2D KDM6A
2 nucleoplasm GO:0005654 10.02 PHF21A MECP2 KMT2D KDM6A KDM1A KAT6B
3 cilium GO:0005929 9.56 TTC23 TEDC1 FAM92A ARMC9
4 centriole GO:0005814 9.33 TEDC1 FAM92A ARMC9
5 MLL3/4 complex GO:0044666 8.96 KMT2D KDM6A
6 DNA repair complex GO:1990391 8.62 PHF21A KDM1A

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

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.35 PHF21A KMT2D KDM6A KDM1A KAT6B
2 histone H3-K4 methylation GO:0051568 9.32 KMT2D KDM6A
3 chromatin silencing GO:0006342 9.26 MECP2 KMT2D
4 neuron maturation GO:0042551 9.16 MECP2 KDM1A
5 positive regulation of smoothened signaling pathway GO:0045880 8.92 TTC23 TEDC1 FAM92A ARMC9

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.23 ZNF778 ZNF329 PHF21A MECP2 KMT2D KDM1A

Sources for Kbg Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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43 MeSH
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50 NDF-RT
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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