Rare Hematology News

Disease Profile

Yorifuji Okuno syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

All ages

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ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease; Hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease

Categories

Congenital and Genetic Diseases; Endocrine Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2255

Definition
Pancreatic hypoplasia-diabetescongenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).

Epidemiology
It has been described in one Japanese family, in which the mother and at least two of her four children were affected (another two children died shortly after birth).

Genetic counseling
The syndrome appears to be inherited as an autosomal dominant trait.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Exocrine pancreatic insufficiency
Inability to properly digest food due to lack of pancreatic digestive enzymes
0001738
Neonatal insulin-dependent diabetes mellitus
0000857
Patent foramen ovale
0001655
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
30%-79% of people have these symptoms
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Intermittent diarrhea
0002254
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Pancreatic aplasia
Absent pancreas
0100801
Pancreatic hypoplasia
Underdeveloped pancreas
0002594
Small for gestational age
Birth weight less than 10th percentile
Low birth weight

[ more ]

0001518
5%-29% of people have these symptoms
Congenital hypothyroidism
Underactive thyroid gland from birth
0000851
Double outlet left ventricle
0011581
Hypoplasia of right ventricle
Small right heart chamber
Underdeveloped right heart chamber

[ more ]

0004762
Hypoplastic tricuspid valve
0011573
Inguinal hernia
0000023
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Microcolon
0004388
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Oligohydramnios
Low levels of amniotic fluid
0001562
Patent ductus arteriosus
0001643
Prolonged partial thromboplastin time
0003645
Pulmonary artery stenosis
Narrowing of lung artery
0004415
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Respiratory distress
Breathing difficulties
Difficulty breathing

[ more ]

0002098
Seizure
0001250
Tetralogy of Fallot
0001636
Transposition of the great arteries
0001669
1%-4% of people have these symptoms
Absent gallbladder
0011467
Anterior pituitary agenesis
Absent pituitary gland
0010626
Aplasia of the left hemidiaphragm
0009112
Aplasia/Hypoplasia of the gallbladder
Absent/small gallbladder
Absent/underdeveloped gallbladder

[ more ]

0011466
Biliary atresia
0005912
Cervical ribs
0000891
Colon perforation
0031369
Congenital defect of the pericardium
0011628
Congenital diaphragmatic hernia
0000776
Global developmental delay
0001263
Interrupted aortic arch
0011611
Intestinal malrotation
0002566
Mild microcephaly
0040196
Perimembranous ventricular septal defect
0011682
Single umbilical artery
Only one artery in umbilical cord instead of two
0001195
Total absence of the pericardium
0011629
Truncus arteriosus
0001660
Umbilical hernia
0001537
Ureteral duplication
Double ureter
0000073
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Diabetes mellitus
0000819
Glycosuria
Glucose in urine
0003076
Hyperglycemia
High blood sugar
0003074

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Yorifuji Okuno syndrome. Click on the link to view a sample search on this topic.