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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Bone Diseases, Developmental (D001848)
Parent Node: Facies (D019066)
Parent Node: Intellectual Disability (D008607)
Parent Node: Tooth Abnormalities (D014071)
..Starting node ..KBG syndrome (C537015)
Child Nodes:
Sister Nodes:
..Ackerman syndrome (C538170)
..Anodontia (D000848) 29
..AREDYLD Syndrome (C537427)
..Blepharo-cheilo-dontic syndrome (C536188)
..Book Syndrome (C562993)
..Carabelli Anomaly of Maxillary Molar Teeth (C566175)
..Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only (C563974)
..CODAS syndrome (C536434)
..Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM) (C548011)
..Deafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..Dens in Dente (D003719) 1
..Dental Enamel Hypoplasia (D003744) 29
..Dentin Dysplasia (D003805) 3
..Dentinogenesis Imperfecta (D003811) 7
..Dermoodontodysplasia (C565103)
..Diastema, Dental Medial (C565098)
..Euhidrotic ectodermal dysplasia (C535763)
..Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification (C567039)
..Faciocardiomelic Dysplasia, Lethal (C565578)
..Fused Teeth (D005671)
..Grubben de Cock Borghgraef syndrome (C537621)
..Hypoglossia-Hypodactylia (C566308)
..Iridogoniodysgenesis, dominant type (C535536)
..Kallmann Syndrome 2 with Selective Tooth Agenesis (C566948)
..KBG syndrome (C537015)
..Lacrimoauriculodentodigital syndrome (C538132)
..Larsen syndrome, dominant type (C537873)
..Nance-Horan syndrome (C538336)
..Oculodentodigital Dysplasia (C563160)
..Oculodentodigital Dysplasia, Autosomal Recessive (C567605)
..Oculotrichodysplasia (C564934)
..Odontodysplasia (D018126) 3
..Odontomicronychial dysplasia (C537741)
..Odontotrichoungual-Digital-Palmar Syndrome (C566598)
..Oroacral Syndrome, Verloes-Koulischer Type (C566374)
..Otodental Dysplasia (C563482)
..Polydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..Rodrigues blindness (C535865)
..Spondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..Taurodontism (C536946)
..Taurodontism, microdontia, and dens invaginatus (C536947)
..Teeth noneruption of with maxillary hypoplasia and genu valgum (C536952)
..Teeth, Odd Shapes Of (C566076)
..Temtamy preaxial brachydactyly syndrome (C536958)
..Tooth Agenesis, Selective, 2 (C566513)
..Tooth Agenesis, Selective, 3 (C567036)
..Tooth Agenesis, Selective, 4 (C563634)
..Tooth Agenesis, Selective, 5 (C565757)
..Tooth Agenesis, Selective, 6 (C567755)
..Tooth Agenesis, Selective, X-Linked, 1 (C567060)
..Tooth, Supernumerary (D014096) 3
..Tricho-dento-osseous syndrome 1 (C536550)
..TRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..Weyers acrofacial dysostosis (C536695)
..Zazam Sheriff Phillips syndrome (C536723)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6034

Name:

KBG syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D000015|MESH:D001848|MESH:D008607|MESH:D014071|MESH:D019066

TreeNumbers:

C05.116.099/C537015 |C07.650.800/C537015 |C07.793.700/C537015 |C10.597.606.643/C537015 |C16.131.077/C537015 |C16.131.850.800/C537015 |C23.550.291.812/C537015 |C23.888.592.604.646/C537015 |F03.550.600/C537015

Synonyms:

Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies

Slim Mappings:

Reference:

MedGen: C537015
MeSH: C537015
OMIM: 148050;

Genes: ANKRD11;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000463	Anteverted nares
3	HP:0000891	Cervical ribs
4	HP:0030084	Clinodactyly
5	HP:0000028	Cryptorchidism
6	HP:0002750	Delayed skeletal maturation
7	HP:0001263	Global developmental delay
8	HP:0000316	Hypertelorism
9	HP:0001249	Intellectual disability
10	HP:0000637	Long palpebral fissure
11	HP:0000343	Long philtrum
12	HP:0000294	Low anterior hairline
13	HP:0002162	Low posterior hairline
14	HP:0001572	Macrodontia
15	HP:0000400	Macrotia
16	HP:0000252	Microcephaly
17	HP:0000677	Oligodontia
18	HP:0009466	Radial deviation of finger
19	HP:0000902	Rib fusion
20	HP:0000311	Round face
21	HP:0001250	Seizure	HP:0040283
22	HP:0004322	Short stature
23	HP:0000954	Single transverse palmar crease
24	HP:0001159	Syndactyly
25	HP:0000506	Telecanthus
26	HP:0000574	Thick eyebrow
27	HP:0002942	Thoracic kyphosis
28	HP:0000325	Triangular face
29	HP:0000430	Underdeveloped nasal alae
30	HP:0008438	Vertebral arch anomaly
31	HP:0002948	Vertebral fusion
32	HP:0001566	Widely-spaced maxillary central incisors

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001256182.1(ANKRD11):c.7570_7575delGAGAAG	29123	ANKRD11	Pathogenic	863223319	RCV000023875;	N	MedGen:C0220687,OMIM:148050,ORPHA:2332	16	89341366	89341366	NM_001256182.1:c.7570_7575delGAGAAG		NC_000016.9:g.89341366C>G	OMIM Allelic Variant:611192.0001	C0220687 148050 KBG syndrome
NM_001256182.1(ANKRD11):c.7180C>T (p.Gln2394Ter)	29123	ANKRD11	Pathogenic	863225296	RCV000201945;	N	MedGen:C0220687,OMIM:148050,ORPHA:2332	16	89345770	89345770	NM_001256182.1:c.7180C>T	NP_001243111.1:p.Gln2394Ter	NC_000016.9:g.89345770G>A	-	C0220687 148050 KBG syndrome
NM_001256182.1(ANKRD11):c.6472G>T (p.Glu2158Ter)	29123	ANKRD11	Pathogenic	869312713	RCV000209927;	N	MedGen:C0220687,OMIM:148050,ORPHA:2332	16	89346478	89346478	NM_001256182.1:c.6472G>T	NP_001243111.1:p.Glu2158Ter	NC_000016.9:g.89346478C>A	-	C0220687 148050 KBG syndrome
NM_001256182.1(ANKRD11):c.6210_6211delGT (p.Lys2070Asnfs)	29123	ANKRD11	Pathogenic	863225257	RCV000201845;	N	MedGen:C0220687,OMIM:148050,ORPHA:2332	16	89346739	89346740	NM_001256182.1:c.6210_6211delGT	NP_001243111.1:p.Lys2070Asnfs	NC_000016.9:g.89346739_89346740delAC	OMIM Allelic Variant:611192.0004	C0220687 148050 KBG syndrome
NM_001256182.1(ANKRD11):c.5953_5954delCA (p.Gln1985Glufs)	29123	ANKRD11	Pathogenic	863223321	RCV000023877;	N	MedGen:C0220687,OMIM:148050,ORPHA:2332	16	89346996	89346997	NM_001256182.1:c.5953_5954delCA	NP_001243111.1:p.Gln1985Glufs	NC_000016.9:g.89346996_89346997delTG	OMIM Allelic Variant:611192.0003	C0220687 148050 KBG syndrome
NM_013275.5(ANKRD11):c.2398_2401delGAAA (p.Glu800Asnfs)	29123	ANKRD11	Pathogenic	797045027	RCV000191060;	N	MedGen:C0220687,OMIM:148050,ORPHA:2332	16	89350548	89350552	NM_013275.5:c.2398_2401delGAAA	NP_037407.4:p.Glu800Asnfs	NC_000016.9:g.89350549_89350552delTTTC	-	C0220687 148050 KBG syndrome
NM_001256182.1(ANKRD11):c.2305delT (p.Ser769Glnfs)	29123	ANKRD11	Pathogenic	863223320	RCV000023876;	N	MedGen:C0220687,OMIM:148050,ORPHA:2332	16	89350645	89350645	NM_001256182.1:c.2305delT	NP_001243111.1:p.Ser769Glnfs	NC_000016.9:g.89350645delA	OMIM Allelic Variant:611192.0002	C0220687 148050 KBG syndrome