U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome

Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome

Synonyms
Optic nerve edema-splenomegaly syndrome; ROSAH syndrome; Splenomegaly, cytopenia, and vision loss
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: ALPK1-Related Autoinflammatory Disease
ALPK1-related autoinflammatory disease (ALPK1-AD) is characterized by clinical findings that can include intraocular inflammation, retinal degeneration, recurrent fever, deforming arthritis, and headaches. Anhidrosis/hypohidrosis, dental caries, short dental roots, and hyposalivation are common. While most adults have ophthalmologic manifestations, vision loss is not universal. Although significant intrafamilial variability can occur, most individuals with ALPK1-AD exhibit at least one clinical or laboratory feature (such as episodic low-grade fever or episodic elevation of serum markers of inflammation such as C-reactive protein). To date, 41 individuals from 19 families with a pathogenic variant in ALPK1 have been described.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Christina Kozycki
Dan Kastner
Laryssa Huryn
view full author information

Available tests

4 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 8430410J10Rik, LAK, ROSAH, ALPK1
    Summary: alpha kinase 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.