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

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Aliases & Descriptions for Pancreatic Agenesis and Congenital Heart Defects:

Name: Pancreatic Agenesis and Congenital Heart Defects 52 24 70 27 12 68
Heart Defects, Congenital, and Other Congenital Anomalies 52 70 68
Pachd 24 70
Congenital Pancreatic Hypoplasia with Diabetes Mellitus and Congenital Heart Disease 24
Congenital Pancreatic Agenesis with Diabetes Mellitus and Congenital Heart Disease 70
 
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome 54
Yorifuji Okuno Syndrome 68
Yorifuji-Okuno Syndrome 54
Hdca 70

Characteristics:

Orphanet epidemiological data:

54
pancreatic hypoplasia-diabetes-congenital heart disease syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages

HPO:

64
pancreatic agenesis and congenital heart defects:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 600001
Orphanet54 ORPHA2255
UMLS via Orphanet69 C2931296
MedGen37 C1838780

Summaries for Pancreatic Agenesis and Congenital Heart Defects

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UniProtKB/Swiss-Prot:70 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 Array, Array and Array. An important gene associated with Pancreatic Agenesis and Congenital Heart Defects is GATA6 (GATA Binding Protein 6). Affiliated tissues include heart and pituitary.

Description from OMIM:52 600001

Related Diseases for Pancreatic Agenesis and Congenital Heart Defects

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

idRelated DiseaseScoreTop Affiliating Genes
1yorifuji okuno syndrome11.3
2pancreatic agenesis9.9
3pancreatitis9.9

Symptoms & Phenotypes for Pancreatic Agenesis and Congenital Heart Defects

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Symptoms by clinical synopsis from OMIM:

600001

Clinical features from OMIM:

600001

Human phenotypes related to Pancreatic Agenesis and Congenital Heart Defects:

 54 64 (show all 49)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neonatal insulin-dependent diabetes mellitus64 54 Very frequent (99-80%) HP:0000857
2 ventricular septal defect64 54 Very frequent (99-80%) HP:0001629
3 atria septal defect54 Very frequent (99-80%)
4 patent foramen ovale64 54 Very frequent (99-80%) HP:0001655
5 exocrine pancreatic insufficiency64 54 Very frequent (99-80%) HP:0001738
6 intellectual disability64 54 Frequent (79-30%) HP:0001249
7 failure to thrive64 54 Frequent (79-30%) HP:0001508
8 intrauterine growth retardation64 54 Frequent (79-30%) HP:0001511
9 small for gestational age64 54 Frequent (79-30%) HP:0001518
10 intermittent diarrhea64 54 Frequent (79-30%) HP:0002254
11 pancreatic hypoplasia64 54 Frequent (79-30%) HP:0002594
12 feeding difficulties64 54 Frequent (79-30%) HP:0011968
13 hernia54 Frequent (79-30%)
14 pancreatic aplasia64 54 Frequent (79-30%) HP:0100801
15 congenital hypothyroidism64 54 Occasional (29-5%) HP:0000851
16 seizures64 54 Occasional (29-5%) HP:0001250
17 neonatal hypotonia64 54 Occasional (29-5%) HP:0001319
18 oligohydramnios64 54 Occasional (29-5%) HP:0001562
19 tetralogy of fallot64 54 Occasional (29-5%) HP:0001636
20 pulmonic stenosis64 54 Occasional (29-5%) HP:0001642
21 patent ductus arteriosus64 54 Occasional (29-5%) HP:0001643
22 transposition of the great arteries64 54 Occasional (29-5%) HP:0001669
23 respiratory distress64 54 Occasional (29-5%) HP:0002098
24 prolonged partial thromboplastin time64 54 Occasional (29-5%) HP:0003645
25 pulmonary artery stenosis64 54 Occasional (29-5%) HP:0004415
26 hypoplasia of right ventricle64 54 Occasional (29-5%) HP:0004762
27 hypoplastic tricuspid valve64 54 Occasional (29-5%) HP:0011573
28 double outlet left ventricle64 54 Occasional (29-5%) HP:0011581
29 ureteral duplication64 54 Very rare (<4-1%) HP:0000073
30 congenital diaphragmatic hernia64 54 Very rare (<4-1%) HP:0000776
31 cervical ribs64 54 Very rare (<4-1%) HP:0000891
32 single umbilical artery64 54 Very rare (<4-1%) HP:0001195
33 umbilical hernia64 54 Very rare (<4-1%) HP:0001537
34 intestinal malrotation64 54 Very rare (<4-1%) HP:0002566
35 biliary atresia64 54 Very rare (<4-1%) HP:0005912
36 anterior pituitary agenesis64 54 Very rare (<4-1%) HP:0010626
37 aplasia/hypoplasia of the gallbladder64 54 Very rare (<4-1%) HP:0011466
38 interrupted aortic arch64 54 Very rare (<4-1%) HP:0011611
39 congenital defect of the pericardium64 54 Very rare (<4-1%) HP:0011628
40 mild microcephaly64 54 Very rare (<4-1%) HP:0040196
41 inguinal hernia64 HP:0000023
42 microcephaly64 HP:0000252
43 diabetes mellitus64 HP:0000819
44 global developmental delay64 HP:0001263
45 truncus arteriosus64 HP:0001660
46 hyperglycemia64 HP:0003074
47 glycosuria64 HP:0003076
48 microcolon64 HP:0004388
49 perimembranous ventricular septal defect64 HP:0011682

Drugs & Therapeutics for Pancreatic Agenesis and Congenital Heart Defects

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Ironapproved11657439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
2Trace Elements6001
3Micronutrients6001

Interventional clinical trials:

idNameStatusNCT IDPhase
1Familial Investigations of Childhood Cancer PredispositionRecruitingNCT03050268
2Genes Influencing Iron Overload StateActive, not recruitingNCT01158794

Search NIH Clinical Center for Pancreatic Agenesis and Congenital Heart Defects

Genetic Tests for Pancreatic Agenesis and Congenital Heart Defects

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Genetic tests related to Pancreatic Agenesis and Congenital Heart Defects:

id Genetic test Affiliating Genes
1 Pancreatic Agenesis and Congenital Heart Disease27
2 Pancreatic Agenesis and Congenital Heart Defects24 GATA6

Anatomical Context for Pancreatic Agenesis and Congenital Heart Defects

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

36
Heart, Pituitary

Publications for Pancreatic Agenesis and Congenital Heart Defects

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Articles related to Pancreatic Agenesis and Congenital Heart Defects:

idTitleAuthorsYear
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

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

70
id Symbol AA change Variation ID SNP ID
1GATA6p.Thr452AlaVAR_067384rs387906817
2GATA6p.Arg456CysVAR_067385rs387906818
3GATA6p.Arg456HisVAR_067386rs387906819
4GATA6p.Asn466AspVAR_067387rs387906813
5GATA6p.Ala467ThrVAR_067389rs387906820
6GATA6p.Lys473GlnVAR_067390

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1GATA6NM_ 005257.5(GATA6): c.712G> T (p.Gly238Ter)SNVPathogenicrs587777710GRCh37Chr 18, 19751817: 19751817
2GATA6NM_ 005257.5(GATA6): c.1072delG (p.Val358Cysfs)deletionPathogenicrs587777711GRCh38Chr 18, 22172216: 22172216
3GATA6NM_ 005257.5(GATA6): c.1087C> T (p.Gln363Ter)SNVPathogenicrs797045593GRCh37Chr 18, 19752192: 19752192
4GATA6NM_ 005257.5(GATA6): c.1354A> G (p.Thr452Ala)SNVPathogenicrs387906817GRCh37Chr 18, 19761465: 19761465
5GATA6NM_ 005257.5(GATA6): c.1448_ 1455delTGAAAAAA (p.Met483Argfs)deletionPathogenicrs587776872GRCh38Chr 18, 22182776: 22182783
6GATA6NM_ 005257.5(GATA6): c.1366C> T (p.Arg456Cys)SNVPathogenicrs387906818GRCh37Chr 18, 19761477: 19761477
7GATA6NM_ 005257.5(GATA6): c.1367G> A (p.Arg456His)SNVPathogenicrs387906819GRCh37Chr 18, 19761478: 19761478
8GATA6NM_ 005257.5(GATA6): c.1396A> G (p.Asn466Asp)SNVPathogenicrs387906813GRCh37Chr 18, 19761507: 19761507
9GATA6NM_ 005257.5(GATA6): c.1399G> A (p.Ala467Thr)SNVPathogenicrs387906820GRCh37Chr 18, 19761510: 19761510
10GATA6NM_ 005257.5(GATA6): c.1504_ 1505delAA (p.Lys502Aspfs)deletionPathogenicrs587776936GRCh38Chr 18, 22182832: 22182833

Expression for genes affiliated with Pancreatic Agenesis and Congenital Heart Defects

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

Pathways for genes affiliated with Pancreatic Agenesis and Congenital Heart Defects

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GO Terms for genes affiliated with Pancreatic Agenesis and Congenital Heart Defects

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Sources for Pancreatic Agenesis and Congenital Heart Defects

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet