Pancreatic hypoplasia - diabetes - congenital heart disease

General Information (adopted from Orphanet):

Synonyms, Signs: PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE
PACHD
Yorifuji-Okuno syndrome
Number of Symptoms 49
OrphanetNr: 2255
OMIM Id: 600001
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 10 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Other rare diabetes mellitus
 -Rare endocrine disease
Rare genetic diabetes mellitus
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003076) Glycosuria 32 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0001249) Intellectual disability 1089 / 7739
4
 (HPO:0001270) Motor delay 322 / 7739
5
 (HPO:0001263) Global developmental delay 853 / 7739
6
 (HPO:0001250) Seizures 1245 / 7739
7
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
8
 (HPO:0000819) Diabetes mellitus 131 / 7739
9
 (HPO:0005242) Extrahepatic biliary duct atresia 9 / 7739
10
 (HPO:0005912) Biliary atresia 5 / 7739
11
 (HPO:0001537) Umbilical hernia 206 / 7739
12
 (HPO:0002566) Intestinal malrotation 89 / 7739
13
 (HPO:0000023) Inguinal hernia 181 / 7739
14
 (HPO:0005210) Hypoplastic colon 2 / 7739
15
 (HPO:0001539) Omphalocele 102 / 7739
16
 (HPO:0004388) Microcolon 5 / 7739
17
 (HPO:0002594) Pancreatic hypoplasia 5 / 7739
18
 (HPO:0001508) Failure to thrive 454 / 7739
19
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
20
 (HPO:0001510) Growth delay 295 / 7739
21
 (HPO:0001629) Ventricular septal defect 316 / 7739
22
 (HPO:0001642) Pulmonic stenosis 89 / 7739
23
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
24
 (HPO:0001669) Transposition of the great arteries 36 / 7739
25
 (HPO:0011682) Perimembranous ventricular septal defect 6 / 7739
26
 (HPO:0011648) Patent ductus arteriosus after birth at term 18 / 7739
27
 (HPO:0004971) Pulmonary artery hypoplasia 15 / 7739
28
 (HPO:0004415) Pulmonary artery stenosis 25 / 7739
29
 (HPO:0001631) Atria septal defect 274 / 7739
30
 (HPO:0001636) Tetralogy of Fallot 104 / 7739
31
 (HPO:0011623) Muscular ventricular septal defect 2 / 7739
32
 (HPO:0001655) Patent foramen ovale 31 / 7739
33
 (HPO:0001660) Truncus arteriosus 21 / 7739
34
 (HPO:0011611) Interrupted aortic arch 10 / 7739
35
 (HPO:0011581) Double outlet left ventricle 1 / 7739
36
 (HPO:0003074) Hyperglycemia 37 / 7739
37
 (OMIM) Gall bladder agenesis 1 / 7739
38
 (OMIM) Tricuspid valve hypoplasia 1 / 7739
39
 (OMIM) Pancreatic agenesis or severe hypoplasia 1 / 7739
40
 (OMIM) Pituitary agenesis 3 / 7739
41
 (OMIM) Pulmonary artery stenosis, bilateral branch 1 / 7739
42
 (OMIM) Diaphragmatic hernia, left (rare) 1 / 7739
43
 (OMIM) Hepatic inflammation 1 / 7739
44
 (OMIM) Right ventricular hypoplasia 1 / 7739
45
 (OMIM) Exocrine pancreatic deficiency 6 / 7739
46
 (OMIM) Transient hypothyroidism (in some patients) 1 / 7739
47
 (OMIM) Pulmonary valvular stenosis 4 / 7739
48
 (OMIM) Colon perforation (rare) 1 / 7739
49
 (OMIM) Hypoplastic pulmonary artery 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wildling et al. (1993) reported agenesis of the dorsal pancreas in a woman with diabetes mellitus and in both of her sons.

Yorifuji et al. (1994) described a nonconsanguineous Japanese family in which the mother had ...
Molecular genetics OMIM Allen et al. (2011) performed exome sequencing in 2 unrelated patients with pancreatic agenesis and their unaffected parents and identified heterozygosity for a de novo mutation in the GATA6 gene (601656.0006 and 601656.0007) in each proband. Subsequent analysis ...