MCID: STR081
MIFTS: 49

Stormorken Syndrome

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Stormorken Syndrome

MalaCards integrated aliases for Stormorken Syndrome:

Name: Stormorken Syndrome 53 12 49 24 55 71 28 41 14 69
Thrombocytopathy, Asplenia, and Miosis 53 24 71
Stormorken-Sjaastad-Langslet Syndrome 49 24 55
York Platelet Syndrome 53 71
Strmk 53 71
Yps 53 71
Thrombocytopathy-Asplenia-Miosis Syndrome 55
Thrombocytopathy, Asplenia and Miosis 12
Thrombocytopathy Asplenia Miosis 49
York Platelet Syndrome; Yps 53
Miosis Disorder 69
Miosis 41

Characteristics:

Orphanet epidemiological data:

55
stormorken-sjaastad-langslet syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset of bleeding symptoms in childhood or young adulthood


HPO:

31
stormorken syndrome:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Stormorken Syndrome

Genetics Home Reference : 24 Stormorken syndrome is a rare condition that affects many body systems. Affected individuals usually have thrombocytopenia, in which there are abnormally low numbers of blood cell fragments called platelets. Platelets are involved in normal blood clotting; a shortage of platelets typically results in easy bruising and abnormal bleeding. In addition, affected individuals often have a muscle disorder, called tubular aggregate myopathy, that leads to muscle weakness. Another feature of Stormorken syndrome is permanent constriction of the pupils of the eyes (miosis), which may be caused by abnormalities in the muscles that control the size of the pupils. Other features include lack of a functioning spleen (asplenia), scaly skin (ichthyosis), headaches, and difficulty with reading and spelling (dyslexia).

MalaCards based summary : Stormorken Syndrome, also known as thrombocytopathy, asplenia, and miosis, is related to myopathy and isochromosome yp, and has symptoms including neurological speech impairment, short stature and ichthyosis. An important gene associated with Stormorken Syndrome is STIM1 (Stromal Interaction Molecule 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Cardiac conduction. Affiliated tissues include eye, skin and spleen, and related phenotypes are hematopoietic system and homeostasis/metabolism

OMIM : 53 Stormorken syndrome is an autosomal dominant disorder characterized by mild bleeding tendency due to platelet dysfunction, thrombocytopenia, anemia, asplenia, tubular aggregate myopathy, congenital miosis, and ichthyosis. Additional features may include headache or recurrent stroke-like episodes (summary by Misceo et al., 2014). (185070)

UniProtKB/Swiss-Prot : 71 Stormorken syndrome: A rare autosomal dominant disease characterized by mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis.

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3204Disease definitionStormorken-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 dominanttrait.Visit the Orphanet disease page for more resources. Last updated: 8/22/2007

Disease Ontology : 12 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.

Related Diseases for Stormorken Syndrome

Diseases related to Stormorken Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 myopathy 29.7 DMD DYSF ORAI1 STIM1
2 isochromosome yp 12.2
3 ophthalmoplegia totalis with ptosis and miosis 11.9
4 microcoria, congenital 11.7
5 spastic ataxia 7, autosomal dominant 11.2
6 horner's syndrome 11.0
7 horner syndrome, congenital 10.9
8 hemicrania continua 10.9
9 isolated congenital megalocornea 10.9
10 localized lipodystrophy 10.4 DMD DYSF
11 muscular dystrophy, limb-girdle, type 2c 10.4 DMD DYSF
12 muscular dystrophy, limb-girdle, type 2f 10.4 DMD DYSF
13 muscular dystrophy, limb-girdle, type 2b 10.3 DMD DYSF
14 distal muscular dystrophy 10.3 DMD DYSF
15 muscular dystrophy, becker type 10.3 DMD DYSF
16 myoglobinuria, recurrent 10.2 COX5A DMD
17 autosomal recessive limb-girdle muscular dystrophy 10.2 DMD DYSF
18 anterior compartment syndrome 10.1 DYSF F2
19 ptosis 10.1
20 gonadal dysgenesis 10.1
21 rigid spine muscular dystrophy 1 10.0 DMD DYSF
22 anhidrosis 10.0
23 myopathy, tubular aggregate, 1 10.0 ORAI1 STIM1 STIM2
24 blood protein disease 10.0 COX5A F2
25 hepatitis 9.9
26 corpus callosum, agenesis of 9.9
27 bethlem myopathy 1 9.9 DMD DYSF
28 leukocyte adhesion deficiency, type iii 9.9 RASGRP2 SELP
29 immunodeficiency-centromeric instability-facial anomalies syndrome 1 9.8
30 melanosis, neurocutaneous 9.8
31 pancreatic cancer 9.8
32 spermatogenic failure, x-linked, 1 9.8
33 gonadoblastoma 9.8
34 mixed gonadal dysgenesis 9.8
35 melanoma 9.8
36 pancreatitis 9.8
37 infertility 9.8
38 gray platelet syndrome 9.8 NBEAL2 SELP
39 qualitative platelet defect 9.8 F2 SELP
40 retinal vascular occlusion 9.7 F2 SELP
41 portal vein thrombosis 9.7 F2 SELP
42 thrombasthenia 9.7 F2 SELP
43 griscelli syndrome, type 1 9.7 COX5A SELP
44 venous insufficiency 9.7 F2 SELP
45 intermittent claudication 9.6 F2 SELP
46 von willebrand's disease 9.5 F2 SELP
47 blood platelet disease 9.4 COX5A F2 SELP

Graphical network of the top 20 diseases related to Stormorken Syndrome:



Diseases related to Stormorken Syndrome

Symptoms & Phenotypes for Stormorken Syndrome

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
headache
learning difficulties (in some patients)
stroke-like episodes (in some patients)

Skin Nails Hair Skin:
ichthyosis

Hematology:
anemia
thrombocytopenia
increased bleeding tendency due to platelet dysfunction
howell-jolly bodies

Head And Neck Eyes:
hypotelorism
miosis
deep-set eyes

Laboratory Abnormalities:
increased serum creatine kinase
decreased serum calcium

Growth Height:
short stature

Muscle Soft Tissue:
myopathy
proximal muscle weakness
muscle pain
tubular aggregates seen on biopsy

Head And Neck Nose:
epistaxis
prominent nose

Abdomen Spleen:
asplenia
splenic aplasia
functional asplenia

Cardiovascular Vascular:
intracranial bleeding (in some patients)


Clinical features from OMIM:

185070

Human phenotypes related to Stormorken Syndrome:

55 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0002167
2 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 ichthyosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008064
4 anemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001903
5 deeply set eye 55 31 hallmark (90%) Very frequent (99-80%) HP:0000490
6 abnormality of the musculature 55 31 hallmark (90%) Very frequent (99-80%) HP:0003011
7 purpura 55 31 hallmark (90%) Very frequent (99-80%) HP:0000979
8 high forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0000348
9 abnormality of coagulation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001928
10 asplenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001746
11 miosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000616
12 myalgia 31 HP:0003326
13 myopathy 31 HP:0003198
14 elevated serum creatine phosphokinase 31 HP:0003236
15 thrombocytopenia 31 HP:0001873
16 migraine 31 HP:0002076
17 stroke-like episode 31 occasional (7.5%) HP:0002401
18 abnormality of thrombocytes 55 Very frequent (99-80%)
19 epistaxis 31 HP:0000421
20 dyslexia 31 HP:0010522
21 hypotelorism 31 HP:0000601
22 prominent nose 31 HP:0000448
23 proximal muscle weakness 31 HP:0003701
24 increased muscle fatiguability 31 HP:0003750
25 abnormal thrombocyte morphology 31 hallmark (90%) HP:0001872

UMLS symptoms related to Stormorken Syndrome:


myalgia, headache, tonic pupil, mydriasis

MGI Mouse Phenotypes related to Stormorken Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.86 DMD F2 NBEAL2 ORAI1 RASGRP2 SELP
2 homeostasis/metabolism MP:0005376 9.81 RASGRP2 SELP STIM1 STIM2 DMD DYSF
3 immune system MP:0005387 9.61 DMD DYSF F2 NBEAL2 ORAI1 RASGRP2
4 nervous system MP:0003631 9.17 DMD F2 NBEAL2 ORAI1 SELP STIM1

Drugs & Therapeutics for Stormorken Syndrome

Search Clinical Trials , NIH Clinical Center for Stormorken Syndrome

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: miosis

Genetic Tests for Stormorken Syndrome

Genetic tests related to Stormorken Syndrome:

# Genetic test Affiliating Genes
1 Stormorken Syndrome 28

Anatomical Context for Stormorken Syndrome

MalaCards organs/tissues related to Stormorken Syndrome:

38
Eye, Skin, Spleen

Publications for Stormorken Syndrome

Articles related to Stormorken Syndrome:

# Title Authors Year
1
Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome. ( 29356264 )
2018
2
Stormorken syndrome or York platelet syndrome: A clinician's dilemma. ( 28649531 )
2015
3
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome. ( 25044882 )
2014
4
A dominant STIM1 mutation causes Stormorken syndrome. ( 24619930 )
2014

Variations for Stormorken Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Stormorken Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 STIM1 p.Arg304Trp VAR_071476 rs483352867
2 STIM1 p.Ile115Phe VAR_074037 rs527236030

ClinVar genetic disease variations for Stormorken Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 STIM1 NM_003156.3(STIM1): c.910C> T (p.Arg304Trp) single nucleotide variant Pathogenic rs483352867 GRCh38 Chromosome 11, 4074620: 4074620
2 STIM1 NM_003156.3(STIM1): c.343A> T (p.Ile115Phe) single nucleotide variant Pathogenic rs527236030 GRCh38 Chromosome 11, 4023945: 4023945

Expression for Stormorken Syndrome

Search GEO for disease gene expression data for Stormorken Syndrome.

Pathways for Stormorken Syndrome

GO Terms for Stormorken Syndrome

Cellular components related to Stormorken Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.28 DMD DYSF F2 NBEAL2 ORAI1 RASGRP2

Biological processes related to Stormorken Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion transmembrane transport GO:0070588 9.33 ORAI1 STIM1 STIM2
2 regulation of calcium ion transport GO:0051924 9.32 ORAI1 STIM1
3 positive regulation of calcium ion transport GO:0051928 9.26 ORAI1 STIM2
4 activation of store-operated calcium channel activity GO:0032237 8.96 STIM1 STIM2
5 store-operated calcium entry GO:0002115 8.8 ORAI1 STIM1 STIM2

Molecular functions related to Stormorken Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.43 DYSF F2 RASGRP2 SELP STIM1 STIM2
2 lipopolysaccharide binding GO:0001530 9.26 F2 SELP
3 calcium channel regulator activity GO:0005246 9.16 STIM1 STIM2
4 store-operated calcium channel activity GO:0015279 8.8 ORAI1 STIM1 STIM2

Sources for Stormorken Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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