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Stormorken syndrome
ICD-10 Codes
Related ICD-10:
Description
Stormorken syndrome, also known as Stormorken-Sjaastad-Langslet syndrome, is a rare genetic disorder that affects multiple body systems.
Characteristics of the condition
- Thrombocytopenia: Affected individuals usually have thrombocytopenia, which is a low platelet count in the blood [1][3].
- Platelet dysfunction: The condition is characterized by mild bleeding tendency due to platelet dysfunction [4][6][8].
- Asplenia: Individuals with Stormorken syndrome often have asplenia, which means they are born without a spleen or have a non-functional spleen [2][5][7].
- Muscle fatigue and other symptoms: The condition is also associated with muscle fatigue, migraine, dyslexia, ichthyosis, miosis, and other symptoms [2][5].
Genetic inheritance
Stormorken syndrome is an autosomal dominant disorder, which means that a single copy of the mutated gene is enough to cause the condition. This means that if one parent has the condition, each child has a 50% chance of inheriting it.
References
- [1] Stormorken syndrome is a rare condition that affects many body systems.
- [2] Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis.
- [3] Aug 1, 2014 — Stormorken syndrome is a rare condition that affects many body systems. Affected individuals usually have thrombocytopenia.
- [4] Stormorken syndrome is an autosomal dominant disorder characterized by mild bleeding tendency due to platelet dysfunction, thrombocytopenia, anemia, asplenia.
- [5] Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis.
- [6] Stormorken syndrome is an autosomal dominant disorder characterized by mild bleeding tendency due to platelet dysfunction, thrombocytopenia, anemia, asplenia.
- [7] by O Borsani · 2018 · Cited by 24 — Stormorken syndrome is a rare autosomal dominant disease that is characterized by a complex phenotype that includes tubular aggregate myopathy (TAM), bleeding ...
- [8] Stormorken syndrome is an autosomal dominant disorder characterized by mild bleeding tendency due to platelet dysfunction, thrombocytopenia, anemia, asplenia.
Additional Characteristics
- Platelet dysfunction
- Thrombocytopenia
- Asplenia
- Muscle fatigue and other symptoms
Signs and Symptoms
Stormorken Syndrome Signs and Symptoms
Stormorken syndrome, also known as Stormorken-Sjaastad-Langslet syndrome, is a rare autosomal dominant disorder characterized by several signs and symptoms.
- Thrombocytopathy: A bleeding tendency due to platelet dysfunction [1][3]
- Asplenia: The absence of the spleen [2][3]
- Miosis: Constricted pupils [7]
- Muscle fatigue: Weakness and tiredness in muscles [5]
- Migraine: Recurring headaches [3]
- Dyslexia: Difficulty with reading and writing [3]
- Ichthyosis: A skin condition characterized by dry, scaly skin [1][3]
Additionally, some patients may experience:
- Anemia: Low red blood cell count [2][6]
- Thrombocytopenia: Low platelet count [2][6]
- Epistaxis: Nosebleeds [4]
- Howell-Jolly bodies: Abnormalities in the spleen [4]
- Prominent nose: A distinctive facial feature [4]
- Short philtrum: A short upper lip [4]
It's worth noting that Stormorken syndrome is a rare condition, and not all patients may exhibit all of these signs and symptoms.
Additional Symptoms
- Migraine
- Thrombocytopathy
- Ichthyosis
- Dyslexia
- Asplenia
- Muscle fatigue
- Howell-Jolly bodies
- Prominent nose
- Short philtrum
- thrombocytopenia
- anemia
- miosis
- epistaxis
Diagnostic Tests
Diagnostic Tests for Stormorken Syndrome
Stormorken syndrome, also known as Stormorken-Sjaastad-Langslet syndrome, is a rare genetic disorder characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. Diagnostic tests are essential to confirm the presence of this condition.
Blood Tests
- Thrombocytopenia: Affected individuals usually have abnormally low numbers of blood cells called platelets [2][5].
- Anemia: Blood tests may reveal anemia (HGB 84 g/L) and low platelet counts (12 × 10^9/L) [7].
Genetic Testing
- STIM1 gene analysis: This test is carried out using a Bleeding and Platelet Gene Panel to identify mutations in the STIM1 gene [9].
- Genetic tests from US labs around the world are available, providing information on genetic variants associated with Stormorken syndrome.
Other Diagnostic Tests
- Histologic, histochemical, and electron microscopy studies may be performed on muscle specimens to document accumulation of tubular structures [4].
It is essential to consult a healthcare professional for accurate diagnosis and treatment. They will determine the best course of action based on individual symptoms and medical history.
References: [1] - Not available in context [2] Context 2: Affected individuals usually have thrombocytopenia, in which there are abnormally low numbers of blood cells called platelets. [4] Context 4: by A Li · 2019 · Cited by 11 — Histologic, histochemical, and electron microscopy studies were performed on the muscle specimen. It documented accumulation of tubular ... [5] Context 6: Affected individuals usually have thrombocytopenia, in which there are abnormally low numbers of blood cells called platelets. [7] Context 7: by LJ Jiang · 2021 · Cited by 4 — Blood tests revealed anemia (HGB 84 g/L), low platelet counts (12 × 10^9/L), elevated lactate dehydrogenase serum levels (670 U/L), elevated ... [9] Context 9: Feb 22, 2023 — Test details. This test, which analyses the STIM1 gene, is carried out using our Bleeding and Platelet Gene Panel.
Additional Diagnostic Tests
- Anemia
- Thrombocytopenia
- STIM1 gene analysis
- Histologic, histochemical, and electron microscopy studies
Treatment
Based on the available information, it appears that there is currently no specific treatment for Stormorken syndrome (also known as TAM/STRMK). However, researchers have been exploring potential therapeutic approaches.
- One possible direction is the use of SOCE (store-operated calcium entry) inhibitors, such as resveratrol. This compound has shown promise in preclinical studies and may be used to manipulate SOCE, which is amenable to manipulation in this condition [1][3][6].
- Another potential therapeutic approach is the use of ORAI1 inhibition, which has been identified as an efficient preclinical therapy for TAM/STRMK [4].
- Some researchers believe that resveratrol, as an inhibitor of SOCE, may be used to treat Stormorken syndrome [6].
It's essential to note that these potential therapeutic approaches are still in the early stages of research and have not been proven effective in humans. More studies are needed to determine their efficacy and safety.
References:
[1] Silva-Rojas, R., et al. (2024). ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome. [Context 4]
[3] Silva-Rojas, R., et al. (2024). There is currently no treatment for TAM/STRMK, but SOCE is amenable to manipulation... [Context 1]
[4] Silva-Rojas, R. (2023). There is currently no treatment for TAM/STRMK, but SOCE is amenable to manipulation... [Context 7]
[6] Jiang, L. J., et al. (2021). But at present, there is no specific drug for the disease. Some researchers believe that resveratrol... [Context 6]
Recommended Medications
- SOCE inhibitors
- ORAI1 inhibition
- resveratrol
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Stormorken syndrome is a rare autosomal dominant genetic disorder that affects multiple body systems, including hematological and muscular systems. When considering the differential diagnosis for Stormorken syndrome, several conditions should be taken into account.
- Tubular aggregate myopathy (TAM): This condition shares clinical overlap with Stormorken syndrome, characterized by muscle weakness associated with tubular aggregates in muscle fibers [9]. Missense mutations in the luminal domain have been associated with TAM, while cytosolic mutations can cause Stormorken syndrome [10].
- Asplenia: Individuals with Stormorken syndrome often present with asplenia, which is also a feature of other conditions such as Castleman disease and Gaucher disease [2][3].
- Thrombocytopenia: The presence of thrombocytopenia in Stormorken syndrome patients can be confused with other bleeding disorders, including platelet function defects [1][6].
- Hypocalcemia: Hypocalcemia is a feature of Stormorken syndrome that may also be present in other conditions such as hypoparathyroidism and vitamin D deficiency [3][4].
Other conditions that should be considered in the differential diagnosis for Stormorken syndrome include:
- Stormorken-Sjaastad-Langslet syndrome: This condition shares some clinical features with Stormorken syndrome, including thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis [8].
- Other bleeding disorders: Conditions such as platelet function defects, von Willebrand disease, and hemophilia should be considered in the differential diagnosis for Stormorken syndrome due to the presence of thrombocytopenia and bleeding tendency.
It is essential to note that a comprehensive evaluation, including genetic testing and clinical assessment, is necessary to confirm the diagnosis of Stormorken syndrome.
Additional Differential Diagnoses
- autosomal dominant macrothrombocytopenia TUBB1-related
- Hypocalcemia
- Asplenia
- Other bleeding disorders
- N syndrome
- tubular aggregate myopathy 2
- thrombocytopenia
Additional Information
- relatedICD
- http://example.org/icd10/T34.011
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1380
- owl#annotatedSource
- t341428
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#creation_date
- 2015-07-16T16:30:32Z
- oboInOwl#id
- DOID:0060354
- oboInOwl#created_by
- elvira
- oboInOwl#hasDbXref
- UMLS_CUI:C1861451
- oboInOwl#hasExactSynonym
- thrombocytopathy, asplenia and miosis
- IAO_0000115
- A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000147
- core#notation
- DOID:0060354
- rdf-schema#label
- Stormorken syndrome
- rdf-schema#subClassOf
- t340929
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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