National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

SERKAL syndrome


Other Names:
Sex reversion-kidneys, adrenal and lung dysgenesis syndrome
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 139466

Definition
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.

Epidemiology
The syndrome is lethal and has been described in three foetuses.

Etiology
It is caused by homozygous missense mutations in the WNT4 gene.

Genetic counseling
It is transmitted as an autosomal recessive trait.

Visit the Orphanet disease page for more resources.
Last updated: 5/1/2008

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.

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Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] 		0001510
Oligohydramnios
Low levels of amniotic fluid
0001562
Pulmonary hypoplasia
Small lung
Underdeveloped lung
[ more ] 		0002089
Renal agenesis
Absent kidney
Missing kidney
[ more ] 		0000104
Sex reversal 0012245
30%-79% of people have these symptoms
Abnormality of the adrenal glands
Adrenal abnormalities
0000834
Congenital diaphragmatic hernia 0000776
Hypoplasia of the bladder
Underdeveloped bladder
0005343
Hypospadias 0000047
Malrotation of small bowel 0004794
Oral cleft
Cleft of the mouth
0000202
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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

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