Stormorken-Sjaastad-Langslet syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS Thrombocytopathy - asplenia - miosis |
| Number of Symptoms | 30 |
| OrphanetNr: | 3204 |
| OMIM Id: |
185070
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| ICD-10: |
D69.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 6 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare hemorrhagic disorder due to a constitutional thrombocytopenia
-Rare genetic disease -Rare hematologic disease |
Symptom Information:
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(HPO:0000448) | Prominent nose | 56 / 7739 | ||||
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(HPO:0000348) | High forehead | Very frequent [Orphanet] | 157 / 7739 | |||
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(HPO:0000601) | Hypotelorism | 83 / 7739 | ||||
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(HPO:0000490) | Deeply set eye | Very frequent [Orphanet] | 131 / 7739 | |||
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(HPO:0000421) | Epistaxis | 85 / 7739 | ||||
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(HPO:0000615) | Abnormality of the pupil | Very frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0000616) | Miosis | 11 / 7739 | ||||
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(HPO:0002076) | Migraine | 41 / 7739 | ||||
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(HPO:0010522) | Dyslexia | 7 / 7739 | ||||
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(HPO:0002167) | Neurological speech impairment | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0001746) | Asplenia | 19 / 7739 | ||||
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(HPO:0001743) | Abnormality of the spleen | Very frequent [Orphanet] | 37 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0008064) | Ichthyosis | Very frequent [Orphanet] | 108 / 7739 | |||
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(HPO:0001933) | Subcutaneous hemorrhage | Very frequent [Orphanet] | 50 / 7739 | |||
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(HPO:0002401) | Stroke-like episodes | rare [HPO:skoehler] | 10 / 7739 | |||
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(HPO:0001903) | Anemia | Very frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0001892) | Abnormal bleeding | 85 / 7739 | ||||
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(HPO:0001928) | Abnormality of coagulation | Very frequent [Orphanet] | 44 / 7739 | |||
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(HPO:0001873) | Thrombocytopenia | 224 / 7739 | ||||
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(HPO:0001872) | Abnormality of thrombocytes | Very frequent [Orphanet] | 20 / 7739 | |||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
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(HPO:0003326) | Myalgia | 143 / 7739 | ||||
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(HPO:0003750) | Increased muscle fatiguability | 8 / 7739 | ||||
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(HPO:0003198) | Myopathy | 151 / 7739 | ||||
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(HPO:0003011) | Abnormality of the musculature | Very frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0003701) | Proximal muscle weakness | 105 / 7739 | ||||
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(OMIM) | Absent spleen by computerized tomography | 1 / 7739 | ||||
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(OMIM) | Howell-Jolly bodies | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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