ORPHA:3204
Stormorken-Sjaastad-Langslet syndrome
Synonyms: Stormorken syndrome · Thrombocytopathy-asplenia-miosis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Stormorken-Sjaastad-Langslet syndrome | Stormorken syndrome · Thrombocytopathy-asplenia-miosis syndrome |
| fr | Syndrome de Stormorken-Sjaastad-Langslet | Syndrome de Stormorken · Syndrome de thrombocytopathie-asplénie-myosis |
| de | Stormorken-Sjaastad-Langslet-Syndrom | Thrombozytopathie-Asplenie-Miosis-Syndrom · Stormorken-Syndrom |
| es | Síndrome de Stormorken-Sjaastad-Langslet | Síndrome de Stormorken · Síndrome de trombocitopatía-asplenia-miosis |
| it | Sindrome di Stormorken-Sjaastad-Langslet | Trombocitopatia - asplenia - miosi |
| nl | Syndroom van Stormorken-Sjaastad-Langslet | Syndroom van Stormorken · Trombocytopathie - asplenie - miosis-syndroom |
| pt | Síndrome Stormorken-Sjaastad-Langslet | Síndrome de trombocitopatia-asplenia-miose |
| pl | Zespół Stormorkena, Sjaastada i Langsleta | Trombocytopatia - brak śledziony - mioza |
| cs | Stormorkenův-Sjaastadův-Langsletův syndrom | Syndrom zahrnující trombocytopatii, asplenii a miózu · Stormorken-Sjaastad-Langsletův syndrom |
| uk | Синдром Сторморкена-Сяастада-Лангслета | Синдром Сторморкена · Синдром тромбоцитопатії-аспленії-міозу |
| zh | Stormorken-Sjaastad-Langslet综合征 | 血小板病-无脾-瞳孔缩小综合征 |
| tr | Stormorken-Sjaastad-Langslet sendromu | Stormorken sendromu · Trombositopati-aspleni-miyozis sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 185070 | E | validated | |
| ICD-10 | D69.8 | NTBT | attributed | validated |
| ICD-11 | 3B62.Y | NTBT | index | validated |
| MONDO | 0008497 | E | validated | |
| MeSH | C566108 | E | validated | |
| UMLS | C1861451 | E | validated | |
| GARD | 5188 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:519286Rare disorder of the pupil
rare ophthalmic disorders - ORPHA:522568Rare genetic disorder of the pupil
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:477794Syndromic constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ORAI1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:25896 | ENSG00000276045 | 610277 | 12q24.31 | ORAI calcium release-activated calcium modulator 1 | 24591628[PMID] |
| STIM1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:11386 | ENSG00000167323 | 605921 | 11p15.4 | stromal interaction molecule 1 | 24591628[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 25044882[PMID]_25577287[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25044882[PMID]_25577287[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001928 | Abnormality of coagulation | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0003011 | Abnormality of the musculature | |
| HP:0001872 | Abnormality of thrombocytes | |
| HP:0001903 | Anemia | |
| HP:0001746 | Asplenia | |
| HP:0000490 | Deeply set eye | |
| HP:0000348 | High forehead | |
| HP:0008064 | Ichthyosis | |
| HP:0000616 | Miosis | |
| HP:0000979 | Purpura | |
| HP:0004322 | Short stature | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3204
- This record as JSON: /data/d/3204.json