PACHD
MCID: PNC092
MIFTS: 30

Pancreatic Agenesis and Congenital Heart Defects (PACHD) malady

Categories: Genetic diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Pancreatic Agenesis and Congenital Heart Defects

Aliases & Descriptions for Pancreatic Agenesis and Congenital Heart Defects:

Name: Pancreatic Agenesis and Congenital Heart Defects 54 24 66 29 13 69
Heart Defects, Congenital, and Other Congenital Anomalies 54 66 69
Pachd 24 66
Congenital Pancreatic Hypoplasia with Diabetes Mellitus and Congenital Heart Disease 24
Congenital Pancreatic Agenesis with Diabetes Mellitus and Congenital Heart Disease 66
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome 56
Yorifuji Okuno Syndrome 69
Yorifuji-Okuno Syndrome 56
Hdca 66

Characteristics:

Orphanet epidemiological data:

56
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

HPO:

32
pancreatic agenesis and congenital heart defects:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

OMIM 54 600001
Orphanet 56 ORPHA2255
UMLS via Orphanet 70 C2931296
MedGen 40 C1838780

Summaries for Pancreatic Agenesis and Congenital Heart Defects

UniProtKB/Swiss-Prot : 66 Pancreatic agenesis and congenital heart defects: An autosomal dominant disease characterized by pancreatic severe hypoplasia or agenesis, diabetes mellitus, and congenital heart abnormalities including ventricular septal defect, patent ductus arteriosus, pulmonary artery stenosis, truncus arteriosus and tetralogy of Fallot.

MalaCards based summary : Pancreatic Agenesis and Congenital Heart Defects, also known as heart defects, congenital, and other congenital anomalies, is related to yorifuji okuno syndrome and pancreatic agenesis, and has symptoms including seizures, respiratory distress and intermittent diarrhea. An important gene associated with Pancreatic Agenesis and Congenital Heart Defects is GATA6 (GATA Binding Protein 6). The drugs Iron and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include heart and pituitary.

Description from OMIM: 600001

Related Diseases for Pancreatic Agenesis and Congenital Heart Defects

Diseases related to Pancreatic Agenesis and Congenital Heart Defects via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 yorifuji okuno syndrome 11.3
2 pancreatic agenesis 9.9
3 pancreatitis 9.9

Symptoms & Phenotypes for Pancreatic Agenesis and Congenital Heart Defects

Symptoms by clinical synopsis from OMIM:

600001

Clinical features from OMIM:

600001

Human phenotypes related to Pancreatic Agenesis and Congenital Heart Defects:

56 32 (show all 49)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 respiratory distress 56 32 Occasional (29-5%) HP:0002098
3 intermittent diarrhea 56 32 Frequent (79-30%) HP:0002254
4 intellectual disability 56 32 Frequent (79-30%) HP:0001249
5 failure to thrive 56 32 Frequent (79-30%) HP:0001508
6 umbilical hernia 56 32 Very rare (<4-1%) HP:0001537
7 neonatal hypotonia 56 32 Occasional (29-5%) HP:0001319
8 feeding difficulties 56 32 Frequent (79-30%) HP:0011968
9 patent ductus arteriosus 56 32 Occasional (29-5%) HP:0001643
10 exocrine pancreatic insufficiency 56 32 Very frequent (99-80%) HP:0001738
11 intrauterine growth retardation 56 32 Frequent (79-30%) HP:0001511
12 tetralogy of fallot 56 32 Occasional (29-5%) HP:0001636
13 ventricular septal defect 56 32 Very frequent (99-80%) HP:0001629
14 intestinal malrotation 56 32 Very rare (<4-1%) HP:0002566
15 pulmonic stenosis 56 32 Occasional (29-5%) HP:0001642
16 oligohydramnios 56 32 Occasional (29-5%) HP:0001562
17 pulmonary artery stenosis 56 32 Occasional (29-5%) HP:0004415
18 ureteral duplication 56 32 Very rare (<4-1%) HP:0000073
19 congenital diaphragmatic hernia 56 32 Very rare (<4-1%) HP:0000776
20 transposition of the great arteries 56 32 Occasional (29-5%) HP:0001669
21 interrupted aortic arch 56 32 Very rare (<4-1%) HP:0011611
22 single umbilical artery 56 32 Very rare (<4-1%) HP:0001195
23 cervical ribs 56 32 Very rare (<4-1%) HP:0000891
24 prolonged partial thromboplastin time 56 32 Occasional (29-5%) HP:0003645
25 small for gestational age 56 32 Frequent (79-30%) HP:0001518
26 biliary atresia 56 32 Very rare (<4-1%) HP:0005912
27 patent foramen ovale 56 32 Very frequent (99-80%) HP:0001655
28 congenital hypothyroidism 56 32 Occasional (29-5%) HP:0000851
29 pancreatic hypoplasia 56 32 Frequent (79-30%) HP:0002594
30 neonatal insulin-dependent diabetes mellitus 56 32 Very frequent (99-80%) HP:0000857
31 pancreatic aplasia 56 32 Frequent (79-30%) HP:0100801
32 hypoplasia of right ventricle 56 32 Occasional (29-5%) HP:0004762
33 hypoplastic tricuspid valve 56 32 Occasional (29-5%) HP:0011573
34 double outlet left ventricle 56 32 Occasional (29-5%) HP:0011581
35 anterior pituitary agenesis 56 32 Very rare (<4-1%) HP:0010626
36 aplasia/hypoplasia of the gallbladder 56 32 Very rare (<4-1%) HP:0011466
37 congenital defect of the pericardium 56 32 Very rare (<4-1%) HP:0011628
38 mild microcephaly 56 32 Very rare (<4-1%) HP:0040196
39 diabetes mellitus 32 HP:0000819
40 inguinal hernia 32 HP:0000023
41 global developmental delay 32 HP:0001263
42 microcephaly 32 HP:0000252
43 hernia 56 Frequent (79-30%)
44 atria septal defect 56 Very frequent (99-80%)
45 microcolon 32 HP:0004388
46 truncus arteriosus 32 HP:0001660
47 glycosuria 32 HP:0003076
48 hyperglycemia 32 HP:0003074
49 perimembranous ventricular septal defect 32 HP:0011682

Drugs & Therapeutics for Pancreatic Agenesis and Congenital Heart Defects

Drugs for Pancreatic Agenesis and Congenital Heart Defects (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved 7439-89-6 23925
2 Micronutrients
3 Trace Elements

Interventional clinical trials:


id Name Status NCT ID Phase
1 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
2 Genes Influencing Iron Overload State Active, not recruiting NCT01158794

Search NIH Clinical Center for Pancreatic Agenesis and Congenital Heart Defects

Genetic Tests for Pancreatic Agenesis and Congenital Heart Defects

Genetic tests related to Pancreatic Agenesis and Congenital Heart Defects:

id Genetic test Affiliating Genes
1 Pancreatic Agenesis and Congenital Heart Disease 29
2 Pancreatic Agenesis and Congenital Heart Defects 24 GATA6

Anatomical Context for Pancreatic Agenesis and Congenital Heart Defects

MalaCards organs/tissues related to Pancreatic Agenesis and Congenital Heart Defects:

39
Heart, Pituitary

Publications for Pancreatic Agenesis and Congenital Heart Defects

Articles related to Pancreatic Agenesis and Congenital Heart Defects:

id Title Authors Year
1
A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: Evidence of haploinsufficiency due to nonsense-mediated mRNA decay. ( 24310933 )
2013

Variations for Pancreatic Agenesis and Congenital Heart Defects

UniProtKB/Swiss-Prot genetic disease variations for Pancreatic Agenesis and Congenital Heart Defects:

66
id Symbol AA change Variation ID SNP ID
1 GATA6 p.Thr452Ala VAR_067384 rs387906817
2 GATA6 p.Arg456Cys VAR_067385 rs387906818
3 GATA6 p.Arg456His VAR_067386 rs387906819
4 GATA6 p.Asn466Asp VAR_067387 rs387906813
5 GATA6 p.Ala467Thr VAR_067389 rs387906820
6 GATA6 p.Lys473Gln VAR_067390

ClinVar genetic disease variations for Pancreatic Agenesis and Congenital Heart Defects:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GATA6 NM_005257.5(GATA6): c.1354A> G (p.Thr452Ala) single nucleotide variant Pathogenic rs387906817 GRCh37 Chromosome 18, 19761465: 19761465
2 GATA6 NM_005257.5(GATA6): c.1448_1455delTGAAAAAA (p.Met483Argfs) deletion Pathogenic rs587776872 GRCh38 Chromosome 18, 22182776: 22182783
3 GATA6 NM_005257.5(GATA6): c.1366C> T (p.Arg456Cys) single nucleotide variant Pathogenic rs387906818 GRCh37 Chromosome 18, 19761477: 19761477
4 GATA6 NM_005257.5(GATA6): c.1367G> A (p.Arg456His) single nucleotide variant Pathogenic rs387906819 GRCh37 Chromosome 18, 19761478: 19761478
5 GATA6 NM_005257.5(GATA6): c.1396A> G (p.Asn466Asp) single nucleotide variant Pathogenic rs387906813 GRCh37 Chromosome 18, 19761507: 19761507
6 GATA6 NM_005257.5(GATA6): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic rs387906820 GRCh37 Chromosome 18, 19761510: 19761510
7 GATA6 NM_005257.5(GATA6): c.1504_1505delAA (p.Lys502Aspfs) deletion Pathogenic rs587776936 GRCh38 Chromosome 18, 22182832: 22182833
8 GATA6 NM_005257.5(GATA6): c.712G> T (p.Gly238Ter) single nucleotide variant Pathogenic rs587777710 GRCh37 Chromosome 18, 19751817: 19751817
9 GATA6 NM_005257.5(GATA6): c.1072delG (p.Val358Cysfs) deletion Pathogenic rs587777711 GRCh38 Chromosome 18, 22172216: 22172216
10 GATA6 NM_005257.5(GATA6): c.1087C> T (p.Gln363Ter) single nucleotide variant Pathogenic rs797045593 GRCh37 Chromosome 18, 19752192: 19752192

Expression for Pancreatic Agenesis and Congenital Heart Defects

Search GEO for disease gene expression data for Pancreatic Agenesis and Congenital Heart Defects.

Pathways for Pancreatic Agenesis and Congenital Heart Defects

GO Terms for Pancreatic Agenesis and Congenital Heart Defects

Sources for Pancreatic Agenesis and Congenital Heart Defects

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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