Stormorken syndrome
Findings
No curated finding names Stormorken syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.
Definition from the Mondo Disease Ontology (MONDO:0008497), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
25 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.
- AnemiaHPOHP:0001903
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Deeply set eyeHPOHP:0000490
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- 6 of 6 reported patients
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 3 of 3 reported patients
- MiosisHPOHP:0000616
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Prominent noseHPOHP:0000448
- 6 of 6 reported patients
Show the remaining 13
- AspleniaHPOHP:0001746
- 3 of 6 reported patients
- Very frequent (80% to 99% of cases)
- High foreheadHPOHP:0000348
- Very frequent (80% to 99% of cases)
- IchthyosisHPOHP:0008064
- 4 of 5 reported patients
- Very frequent (80% to 99% of cases)
- PurpuraHPOHP:0000979
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- EpistaxisHPOHP:0000421
Genes
2 genes
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.
Where it sits
Other names
1 name
Resolves to: Stormorken syndrome
- Also called
- Thrombocytopathy-asplenia-miosis syndrome