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Disease Profile

PAGOD 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

Neonatal

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.

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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)

Pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia; Kennerknecht Sorgo Oberhoffer syndrome; Agonadism with multiple internal malformations;

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases;

Summary

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

Orpha Number: 991

Definition
PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.

Epidemiology
Since the first publication in 1991, only 11 patients have been described.

Clinical description
Neonates with PAGOD syndrome present with several visceral anomalies: hypoplasia of right or left lung, diaphragmatic hernia, omphalocele, various cardiac anomalies including, amongst others, atrial septal defect, left ventricular hypoplasia or ventricular septal defect, and great vessels anomalies such as aortic hypoplasia and pulmonary artery hypoplasia or atresia. Cardiac and mediastinal structures may be in dextroposition. Ambiguous external genitalia can be observed in some cases and all patients present gonadal agenesis or hypoplasia and developmental anomalies of Wolffian and Mullerian duct structures.

Etiology
Etiology is unknown but vitamin A deficiency has been suggested to play a role in the development of the syndrome.

Genetic counseling
Almost all cases are sporadic, except for 2 siblings, suggesting autosomal recessive inheritance.

Prognosis
Life expectancy is reduced due to cardiac and respiratory complications.

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
Pulmonary artery hypoplasia
Underdeveloped lung artery
0004971
Pulmonary hypoplasia
Small lung
Underdeveloped lung

[ more ]

0002089
30%-79% of people have these symptoms
Abnormal testis morphology
Abnormality of the testis
0000035
Abnormality of the uterus
Uterine abnormalities
Uterine malformations

[ more ]

0000130
Agonadism
0008633
Ambiguous genitalia
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia

[ more ]

0000062
Congenital diaphragmatic hernia
0000776
Death in infancy
Infantile death
Lethal in infancy

[ more ]

0001522
Female pseudohermaphroditism
0010458
Hypoplastic left heart
Underdeveloped left heart
0004383
Multicystic kidney dysplasia
0000003
Omphalocele
0001539
Renal hypoplasia/aplasia
Absent/small kidney
Absent/underdeveloped kidney

[ more ]

0008678
5%-29% of people have these symptoms
Abnormal aortic morphology
0001679
Abnormal clavicle morphology
Abnormal collarbone
0000889
Abnormality of neuronal migration
0002269
Abnormality of the ribs
Rib abnormalities
0000772
Abnormality of the spleen
0001743
Asymmetric growth
Uneven or disproportionate growth of one body part compared to another
0100555
Encephalocele
0002084
Meningocele
0002435
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Optic atrophy
0000648
Short stature
Decreased body height
Small stature

[ more ]

0004322
Situs inversus totalis
All organs on wrong side of body
0001696
Sudden cardiac death
Premature sudden cardiac death
0001645

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 PAGOD syndrome. Click on the link to view a sample search on this topic.