retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
Findings
No curated finding names retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.
Definition from the Mondo Disease Ontology (MONDO:0013999), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AnhidrosisHPOHP:0000970
- 13 of 13 reported patients
- PancytopeniaHPOHP:0001876
- 12 of 14 reported patients
- SplenomegalyHPOHP:0001744
- 12 of 14 reported patients
- MigraineHPOHP:0002076
- 6 of 14 reported patients
- Cone/cone-rod dystrophyHPOHP:0000548
- 6 of 15 reported patients
- Recurrent feverHPOHP:0001954
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ALPK1HGNC:20917
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
- Also called
- optic nerve edema-splenomegaly syndromeretinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headacheROSAHROSAH syndrome