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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: Craniofacial Abnormalities (D019465)
Parent Node: Intellectual Disability (D008607)
Parent Node: Psychomotor Disorders (D011596)
Parent Node: Urogenital Abnormalities (D014564)
..Starting node ..Genitopatellar Syndrome (C565255)
Child Nodes:
Sister Nodes:
..Allanson Pantzar McLeod syndrome (C537048) 1
..ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
..Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects (C563994)
..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Bladder Exstrophy (D001746) 1
..Calabro syndrome (C537960)
..Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Cryptorchidism (D003456) 12
..Disorders of Sex Development (D012734) 107
..DK Phocomelia Syndrome (C565618)
..Duker Weiss Siber syndrome (C535719)
..Epispadias (D004842) 1
..Genitopatellar Syndrome (C565255)
..Genitourinary Tract Anomalies (C564424)
..Hand foot uterus syndrome (C535627)
..Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
..Hypospadias (D007021) 17
..Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..Lissencephaly, X-Linked, 2 (C564563)
..Microcephaly seizures genital hypoplasia (C537540)
..Microphthalmia, Syndromic 6 (C566440)
..Multicystic Dysplastic Kidney (D021782) 2
..Myotubular Myopathy with Abnormal Genital Development (C564561)
..Nephritis, Hereditary (D009394) 11
..Nephrosis deafness urinary tract digital malformation (C536402)
..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..Omphalocele exstrophy imperforate anus (C537748)
..Piepkorn Karp Hickok syndrome (C535774)
..Popliteal Pterygium Syndrome (C562509)
..Proud Syndrome (C563110)
..Pyelectasis (D058536)
..Renal Adysplasia (C563261)
..Renal dysplasia - limb defects syndrome (C537754)
..Renal, Genital, and Middle Ear Anomalies (C564849)
..Retrocaval Ureter (D064749)
..Robinow Syndrome, Autosomal Dominant (C562492)
..Rosselli-Gulienetti Syndrome (C563117)
..Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies (C564799)
..Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..Ureter, Bifid Or Double (C566012)
..Urinary Fistula (D014548) 2
..Uterine Anomalies (C562565)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4567

Name:

Genitopatellar Syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D008607|MESH:D011596|MESH:D014564|MESH:D019465

TreeNumbers:

C05.660.207/C565255 |C10.597.606.643/C565255 |C10.597.606.881/C565255 |C12.706/C565255 |C13.351.875/C565255 |C16.131.621.207/C565255 |C16.131.939/C565255 |C23.888.592.604.646/C565255 |C23.888.592.604.882/C565255 |F03.550.600/C565255

Synonyms:

Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation

Slim Mappings:

Reference:

MedGen: C565255
MeSH: C565255
OMIM: 606170;

Genes: KAT6B;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0001274	Agenesis of corpus callosum
4	HP:0001631	Atrial septal defect
5	HP:0001156	Brachydactyly
6	HP:0008665	Clitoral hypertrophy
7	HP:0000280	Coarse facial features
8	HP:0030048	Colpocephaly
9	HP:0001374	Congenital hip dislocation
10	HP:0000028	Cryptorchidism
11	HP:0000684	Delayed eruption of teeth
12	HP:0000494	Downslanted palpebral fissures
13	HP:0002015	Dysphagia
14	HP:0008683	Enlarged labia minora
15	HP:0001290	Generalized hypotonia
16	HP:0001263	Global developmental delay
17	HP:0000365	Hearing impairment
18	HP:0003273	Hip contracture
19	HP:0000126	Hydronephrosis
20	HP:0008823	Hypoplastic inferior pubic rami
21	HP:0003175	Hypoplastic ischia
22	HP:0001252	Hypotonia
23	HP:0006887	Intellectual disability, progressive
24	HP:0006380	Knee flexion contracture
25	HP:0001601	Laryngomalacia
26	HP:0000252	Microcephaly
27	HP:0000347	Micrognathia
28	HP:0000054	Micropenis
29	HP:0000003	Multicystic kidney dysplasia
30	HP:0006443	Patellar aplasia
31	HP:0002999	Patellar dislocation
32	HP:0007165	Periventricular heterotopia
33	HP:0001561	Polyhydramnios
34	HP:0000426	Prominent nasal bridge
35	HP:0000448	Prominent nose
36	HP:0002089	Pulmonary hypoplasia
37	HP:0002974	Radioulnar synostosis	HP:0040284
38	HP:0000046	Scrotal hypoplasia
39	HP:0009803	Short phalanx of finger
40	HP:0002209	Sparse scalp hair
41	HP:0001762	Talipes equinovarus
42	HP:0001629	Ventricular septal defect
43	HP:0000445	Wide nose

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_012330.3(KAT6B):c.3681_3696del16 (p.Asp1227Glufs)	23522	KAT6B	Pathogenic	199470469	RCV000023491; RCV000128644;	N	MedGen:C1853566,OMIM:606170,ORPHA:85201; MedGen:CN221809	10	76788263	76788278	NM_012330.3:c.3681_3696del16	NP_036462.2:p.Asp1227Glufs	NC_000010.10:g.76788263_76788278del16	OMIM Allelic Variant:605880.0010	C1853566 606170 Genitopatellar syndrome; CN221809 not provided
NM_012330.3(KAT6B):c.3769_3772delTCTA (p.Lys1258Glyfs)	23522	KAT6B	Pathogenic	199470470	RCV000023487; RCV000128645;	N	MedGen:C1853566,OMIM:606170,ORPHA:85201; MedGen:CN221809	10	76788351	76788354	NM_012330.3:c.3769_3772delTCTA	NP_036462.2:p.Lys1258Glyfs	NC_000010.10:g.76788351_76788354delTCTA	OMIM Allelic Variant:605880.0006	C1853566 606170 Genitopatellar syndrome; CN221809 not provided
NM_012330.3(KAT6B):c.3788_3789delAA (p.Lys1263Argfs)	23522	KAT6B	Pathogenic	199470472	RCV000023488; RCV000128647;	N	MedGen:C1853566,OMIM:606170,ORPHA:85201; MedGen:CN221809	10	76788370	76788371	NM_012330.3:c.3788_3789delAA	NP_036462.2:p.Lys1263Argfs	NC_000010.10:g.76788370_76788371delAA	OMIM Allelic Variant:605880.0007	C1853566 606170 Genitopatellar syndrome; CN221809 not provided
NM_012330.3(KAT6B):c.3802G>T (p.Gly1268Ter)	23522	KAT6B	Pathogenic	199470473	RCV000023490; RCV000128648;	N	MedGen:C1853566,OMIM:606170,ORPHA:85201; MedGen:CN221809	10	76788384	76788384	NM_012330.3:c.3802G>T	NP_036462.2:p.Gly1268Ter	NC_000010.10:g.76788384G>T	OMIM Allelic Variant:605880.0009	C1853566 606170 Genitopatellar syndrome; CN221809 not provided
NM_012330.3(KAT6B):c.3892G>T (p.Gly1298Ter)	23522	KAT6B	Pathogenic	199470475	RCV000023489; RCV000128650;	N	MedGen:C1853566,OMIM:606170,ORPHA:85201; MedGen:CN221809	10	76788474	76788474	NM_012330.3:c.3892G>T	NP_036462.2:p.Gly1298Ter	NC_000010.10:g.76788474G>T	OMIM Allelic Variant:605880.0008	C1853566 606170 Genitopatellar syndrome; CN221809 not provided
NM_012330.3(KAT6B):c.4360_4368delGAAAACCAGinsAAAAACCAAAA (p.Glu1454Lysfs)	23522	KAT6B	Pathogenic	199470478	RCV000023486; RCV000128653;	N	MedGen:C1853566,OMIM:606170,ORPHA:85201; MedGen:CN221809	10	76788942	76788950	NM_012330.3:c.4360_4368delGAAAACCAGinsAAAAACCAAAA	NP_036462.2:p.Glu1454Lysfs	NC_000010.10:g.76788942_76788950delGAAAACCAGinsAAAAACCAAAA	OMIM Allelic Variant:605880.0005	C1853566 606170 Genitopatellar syndrome; CN221809 not provided