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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

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

Disease Browser
Parent Node: Diabetes Mellitus (D003920)
Parent Node: Heart Defects, Congenital (D006330)
..Starting node ..Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease (C564011)
Child Nodes:
Sister Nodes:
..22q11 Deletion Syndrome (D058165) 5
..Aarskog Syndrome (C535331) 1
..Al Gazali Aziz Salem syndrome (C535613)
..Alagille Syndrome (D016738)
..Amastia, Bilateral, With Ureteral Triplication And Dysmorphism (C566295)
..Aortic Coarctation (D001017) 3
..Aortic Valve Disease (C563178) 1
..Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts (C566997)
..Arrhythmogenic Right Ventricular Dysplasia (D019571) 13
..Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..Baetz-Greenwalt syndrome (C537795)
..Barth Syndrome (D056889) 2
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Beemer Ertbruggen syndrome (C537668)
..Bixler Christian Gorlin syndrome (C537632)
..Blepharophimosis syndrome Ohdo type (C536232)
..Bonneau Syndrome (C564875)
..Burn-Mckeown syndrome (C537411)
..Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
..Cardiac Valvular Defect, Developmental (C565882)
..Cardiac valvular dysplasia, X-linked (C535576)
..Cardioauditory syndrome of Sanchez Cascos (C535577)
..Cardiocranial syndrome (C535578)
..Cardiofaciocutaneous syndrome (C535579)
..Chromosome 1q21.1 Duplication Syndrome (C567290)
..Chromosome 6pter-P24 Deletion Syndrome (C567239)
..Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..Congenital Heart Defects, X-Linked (C567444)
..Conotruncal cardiac defects (C535464) 1
..Cor Triatriatum (D003310)
..Coronary Vessel Anomalies (D003330) 3
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Cranioacrofacial Syndrome (C565147)
..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..Craniofaciofrontodigital Syndrome (C567298)
..Crisscross Heart (D003420)
..Deafness, Congenital Heart Defects, and Posterior Embryotoxon (C566604)
..Dextrocardia (D003914) 10
..Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature (C565092)
..Ductus Arteriosus, Patent (D004374) 6
..Ebstein Anomaly (D004437)
..Ectopia Cordis (D054083)
..Ectrodactyly cardiopathy dysmorphism (C536187)
..Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia (C563344)
..Eisenmenger Complex (D004541)
..Ellis Yale Winter syndrome (C536205)
..Emanuel syndrome (C535733)
..Faciocardiomelic Dysplasia, Lethal (C565578)
..Faciocardiomelic Syndrome (C567176)
..Faciocardiorenal syndrome (C536388)
..Familial anomalous origin of right pulmonary artery (C535681)
..Fragile Site 16p12 (C565001)
..Frontoocular Syndrome (C565340)
..Gay Feinmesser Cohen syndrome (C537676)
..Genito palato cardiac syndrome (C537683)
..Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia (C565755)
..Heart defects limb shortening (C535850)
..Heart Septal Defects (D006343) 47
..Heart-hand syndrome, Slovenian type (C535852)
..Heart-hand syndrome, Spanish type (C535853)
..Hecht Scott syndrome (C535856)
..Heterotaxy Syndrome (D059446) 7
..Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction (C563939)
..Hittner Hirsch Kreh syndrome (C538323)
..Ho Kaufman Mcalister syndrome (C538325)
..Holt-Oram syndrome (C535326)
..Holzgreve Wagner Rehder syndrome (C535327)
..Hydrolethalus syndrome (C536079)
..Hypoplastic Left Heart Syndrome (D018636)
..Isolated Noncompaction of the Ventricular Myocardium (D056830) 5
..Jarcho-Levin syndrome (C537565) 1
..Kasznica Carlson Coppedge syndrome (C537011)
..Kleefstra Syndrome (C563043)
..LEOPARD Syndrome (D044542) 2
..Levocardia (D007979)
..Long QT Syndrome (D008133) 20
..Lowry Maclean syndrome (C537037)
..Malpuech facial clefting syndrome (C535704)
..Marcus Gunn phenomenon (C535908)
..Marfan Syndrome (D008382) 9
..McDonough syndrome (C538158)
..McKusick Kaufman syndrome (C538159)
..McPherson Clemens syndrome (C538160)
..Meacham Syndrome (C563821)
..Mehta Lewis Patton syndrome (C536147)
..Mexican Cardiomelic Dysplasia (C563087)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects (C564690)
..Noonan Syndrome (D009634) 12
..Orstavik Lindemann Solberg syndrome (C537137)
..Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease (C564011)
..Pilotto syndrome (C537400)
..Powell Chandra Saal syndrome (C538357)
..Pseudodiastrophic dysplasia (C535826)
..Pulmonary Atresia with Intact Ventricular Septum (C562832)
..Right ventricle hypoplasia (C535682)
..Rommen Mueller Sybert syndrome (C535871)
..Saal Bulas syndrome (C537193)
..Sacral meningocele conotruncal heart defects (C537223)
..Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities (C564262)
..Short QT Syndrome 1 (C566506)
..Short QT Syndrome 2 (C566505)
..Short QT Syndrome 3 (C566504)
..Simpson-Golabi-Behmel syndrome (C537340)
..Sonoda syndrome (C536680)
..Steinfeld Syndrome (C566655)
..Stratton-Parker Syndrome (C566105)
..Subaortic Stenosis, Membranous (C564793)
..Tabatznik syndrome (C536784)
..Tamari Goodman syndrome (C536896)
..TARP syndrome (C536942)
..Ter Haar syndrome (C537274)
..Tetralogy of Fallot (D013771) 4
..Thomas syndrome (C536514)
..Transposition of Great Vessels (D014188) 5
..Tricuspid Atresia (D018785) 1
..Trilogy of Fallot (D014286)
..Turner Syndrome (D014424) 2
..Uhl anomaly (C536932)
..VACTERL association (C536495)
..VACTERL association with hydrocephaly, X-linked (C536520)
..VACTERL hydrocephaly (C536521)
..VATER association (C536534)
..Vater Association With Hydrocephalus (C564752)
..Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency (C564244)
..Ventricular extrasystoles perodactyly Robin sequence (C536537)
..Verloove-Vanhorick Brubakk syndrome (C536541)
..Wolff-Parkinson-White Syndrome (D014927)
..Young Simpson syndrome (C536717)
..Zunich neuroectodermal syndrome (C536729)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8546

Name:

Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease

Definition:

Alternative IDs:

ParentIDs:

MESH:D003920|MESH:D006330

TreeNumbers:

C14.240.400/C564011 |C14.280.400/C564011 |C16.131.240.400/C564011 |C18.452.394.750/C564011 |C19.246/C564011

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Endocrine system disease|Metabolic disease

Reference:

MedGen: C564011
MeSH: C564011
OMIM: 600001;

Genes: GATA6;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000924	Abnormality of the skeletal system
3	HP:0001631	Atrial septal defect
4	HP:0005912	Biliary atresia	HP:0040283
5	HP:0000776	Congenital diaphragmatic hernia	HP:0040283
6	HP:0000819	Diabetes mellitus
7	HP:0001508	Failure to thrive
8	HP:0001263	Global developmental delay
9	HP:0003076	Glycosuria
10	HP:0003074	Hyperglycemia
11	HP:0000023	Inguinal hernia	HP:0040283
12	HP:0011611	Interrupted aortic arch
13	HP:0002566	Intestinal malrotation	HP:0040283
14	HP:0001511	Intrauterine growth retardation
15	HP:0000252	Microcephaly	HP:0040283
16	HP:0004388	Microcolon	HP:0040283
17	HP:0002594	Pancreatic hypoplasia
18	HP:0001643	Patent ductus arteriosus
19	HP:0001655	Patent foramen ovale
20	HP:0011682	Perimembranous ventricular septal defect
21	HP:0004415	Pulmonary artery stenosis
22	HP:0001642	Pulmonic stenosis
23	HP:0001250	Seizure	HP:0040283
24	HP:0001195	Single umbilical artery	HP:0040283
25	HP:0001636	Tetralogy of Fallot
26	HP:0001669	Transposition of the great arteries
27	HP:0001660	Truncus arteriosus
28	HP:0001537	Umbilical hernia	HP:0040283
29	HP:0000073	Ureteral duplication	HP:0040283
30	HP:0001629	Ventricular septal defect

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_005257.5(GATA6):c.712G>T (p.Gly238Ter)	2627	GATA6	Pathogenic	587777710	RCV000144067; RCV000191916;	N	Human Phenotype Ontology:HP:0000776,Human Phenotype Ontology:HP:0006604,MedGen:CN000730; Human Phenotype Ontology:HP:0001632,Human Phenotype Ontology:HP:0002564,Human Phenotype Ontology:HP:0002565,MedGen:CN002327; MedGen:C1838780,OMIM:600001	18	19751817	19751817	NM_005257.5:c.712G>T	NP_005248.2:p.Gly238Ter	18:g.19751817G>T	OMIM Allelic Variant:601656.0013	CN000730 Congenital diaphragmatic hernia; CN002327 Malformation of the heart and great vessels; C1838780 600001 Pancreatic agenesis and congenital heart disease
NM_005257.5(GATA6):c.1072delG (p.Val358Cysfs)	2627	GATA6	Pathogenic	587777711	RCV000144068; RCV000191917;	N	Human Phenotype Ontology:HP:0000776,Human Phenotype Ontology:HP:0006604,MedGen:CN000730; Human Phenotype Ontology:HP:0001632,Human Phenotype Ontology:HP:0002564,Human Phenotype Ontology:HP:0002565,MedGen:CN002327; MedGen:C1838780,OMIM:600001	18	19752177	19752177	NM_005257.5:c.1072delG	NP_005248.2:p.Val358Cysfs		OMIM Allelic Variant:601656.0014	CN000730 Congenital diaphragmatic hernia; CN002327 Malformation of the heart and great vessels; C1838780 600001 Pancreatic agenesis and congenital heart disease
NM_005257.5(GATA6):c.1087C>T (p.Gln363Ter)	2627	GATA6	Pathogenic	797045593	RCV000194865;	N	MedGen:C1838780,OMIM:600001	18	19752192	19752192	NM_005257.5:c.1087C>T	NP_005248.2:p.Gln363Ter	NC_000018.9:g.19752192C>T	-	C1838780 600001 Pancreatic agenesis and congenital heart disease
NM_005257.5(GATA6):c.1354A>G (p.Thr452Ala)	2627	GATA6	Pathogenic	387906817	RCV000023133;	N	MedGen:C1838780,OMIM:600001	18	19761465	19761465	NM_005257.5:c.1354A>G	NP_005248.2:p.Thr452Ala	NC_000018.9:g.19761465A>G	OMIM Allelic Variant:601656.0006	C1838780 600001 Pancreatic agenesis and congenital heart disease
NM_005257.5(GATA6):c.1366C>T (p.Arg456Cys)	2627	GATA6	Pathogenic	387906818	RCV000023135; RCV000191918;	N	Human Phenotype Ontology:HP:0000776,Human Phenotype Ontology:HP:0006604,MedGen:CN000730; Human Phenotype Ontology:HP:0001632,Human Phenotype Ontology:HP:0002564,Human Phenotype Ontology:HP:0002565,MedGen:CN002327; MedGen:C1838780,OMIM:600001	18	19761477	19761477	NM_005257.5:c.1366C>T	NP_005248.2:p.Arg456Cys	NC_000018.9:g.19761477C>T	OMIM Allelic Variant:601656.0008	CN000730 Congenital diaphragmatic hernia; CN002327 Malformation of the heart and great vessels; C1838780 600001 Pancreatic agenesis and congenital heart disease
NM_005257.5(GATA6):c.1367G>A (p.Arg456His)	2627	GATA6	Pathogenic	387906819	RCV000023136;	N	MedGen:C1838780,OMIM:600001	18	19761478	19761478	NM_005257.5:c.1367G>A	NP_005248.2:p.Arg456His	NC_000018.9:g.19761478G>A	OMIM Allelic Variant:601656.0009	C1838780 600001 Pancreatic agenesis and congenital heart disease
NM_005257.5(GATA6):c.1396A>G (p.Asn466Asp)	2627	GATA6	Pathogenic	387906813	RCV000023137;	N	MedGen:C1838780,OMIM:600001	18	19761507	19761507	NM_005257.5:c.1396A>G	NP_005248.2:p.Asn466Asp	NC_000018.9:g.19761507A>C,NC_000018.9:g.19761507A>G	OMIM Allelic Variant:601656.0010	C1838780 600001 Pancreatic agenesis and congenital heart disease
NM_005257.5(GATA6):c.1399G>A (p.Ala467Thr)	2627	GATA6	Pathogenic	387906820	RCV000023138;	N	MedGen:C1838780,OMIM:600001	18	19761510	19761510	NM_005257.5:c.1399G>A	NP_005248.2:p.Ala467Thr	NC_000018.9:g.19761510G>A	OMIM Allelic Variant:601656.0011	C1838780 600001 Pancreatic agenesis and congenital heart disease
NM_005257.5(GATA6):c.1448_1455delTGAAAAAA (p.Met483Argfs)	2627	GATA6	Pathogenic	587776872	RCV000023134;	N	MedGen:C1838780,OMIM:600001	18	19762737	19762744	NM_005257.5:c.1448_1455delTGAAAAAA	NP_005248.2:p.Met483Argfs		OMIM Allelic Variant:601656.0007	C1838780 600001 Pancreatic agenesis and congenital heart disease
NM_005257.5(GATA6):c.1504_1505delAA (p.Lys502Aspfs)	2627	GATA6	Pathogenic	587776936	RCV000033071;	N	MedGen:C1838780,OMIM:600001	18	19762793	19762794	NM_005257.5:c.1504_1505delAA	NP_005248.2:p.Lys502Aspfs		OMIM Allelic Variant:601656.0012	C1838780 600001 Pancreatic agenesis and congenital heart disease