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STRMK
MCID: STR081
MIFTS: 56

Stormorken Syndrome (STRMK)

Categories: Blood diseases, Eye diseases, Genetic diseases, Muscle diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Stormorken Syndrome

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MalaCards integrated aliases for Stormorken Syndrome:

Name: Stormorken Syndrome 57 12 20 43 58 72 36 29 6 44 15 70
Thrombocytopathy, Asplenia, and Miosis 57 43 72
Stormorken-Sjaastad-Langslet Syndrome 20 43 58
York Platelet Syndrome 57 72
Strmk 57 72
Yps 57 72
Thrombocytopathy-Asplenia-Miosis Syndrome 58
Thrombocytopathy, Asplenia and Miosis 12
Thrombocytopathy Asplenia Miosis 20
York Platelet Syndrome; Yps 57
Syndrome, Stormorken 39
Miosis Disorder 70
Miosis 44

Characteristics:

Orphanet epidemiological data:

58
stormorken-sjaastad-langslet syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Blood diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare eye diseases
Rare haematological diseases


Sources

Summaries for Stormorken Syndrome

About this section
MedlinePlus Genetics : 43 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 cells 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, tubular aggregate, 1 and combined immunodeficiency due to crac channel dysfunction, and has symptoms including myalgia, headache and mydriasis. An important gene associated with Stormorken Syndrome is STIM1 (Stromal Interaction Molecule 1), and among its related pathways/superpathways are Calcium signaling pathway and Platelet activation. The drugs Hyaluronic acid and Bromfenac have been mentioned in the context of this disorder. Affiliated tissues include eye, spleen and skeletal muscle, and related phenotypes are neurological speech impairment and short stature

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.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3204 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.

OMIM® : 57 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) (Updated 20-May-2021)

KEGG : 36 Stormorken syndrome is a rare autosomal dominant disease with mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. The STIM1 mutation found in Stormorken syndrome patients is located in the coiled-coil 1 domain, which might play a role in keeping STIM1 inactive. STIM1 encodes a major calcium sensor of the endoplasmic reticulum.

UniProtKB/Swiss-Prot : 72 Stormorken syndrome: A rare autosomal dominant disease characterized by mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis.

Sources

Related Diseases for Stormorken Syndrome

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

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 myopathy, tubular aggregate, 1 30.7 STIM2 STIM1 ORAI1 CASQ1
2 combined immunodeficiency due to crac channel dysfunction 30.5 STIM1 ORAI1
3 immunodeficiency 10 30.0 SYPL2 STIM2 STIM1 ORAI3 ORAI2 ORAI1
4 microcoria, congenital 11.5
5 spastic ataxia 7, autosomal dominant 11.3
6 horner's syndrome 11.2
7 ophthalmoplegia totalis with ptosis and miosis 10.9
8 cluster headache 10.9
9 horner syndrome, congenital 10.9
10 aromatic l-amino acid decarboxylase deficiency 10.9
11 hemicrania continua 10.9
12 paroxysmal hemicrania 10.9
13 cataract 10.4
14 myopathy 10.4
15 ichthyosis 10.3
16 ptosis 10.3
17 thrombocytopenia 10.3
18 dyslexia 10.3
19 alacrima, achalasia, and mental retardation syndrome 10.1
20 skeletal muscle disease 10.1 RYR1 CASQ1
21 ocular motor apraxia 10.1
22 intraocular pressure quantitative trait locus 10.1
23 anhidrosis 10.1
24 amelogenesis imperfecta, type iiia 10.1 STIM2 STIM1 ORAI3 ORAI2
25 atrophic muscular disease 10.1 RYR1 CASQ1
26 migraine with or without aura 1 10.0
27 sleep apnea 10.0
28 open-angle glaucoma 10.0
29 headache 10.0
30 malignant hyperthermia susceptibility 10.0 RYR1 CASQ1
31 brody myopathy 10.0 RYR1 CASQ1
32 corpus callosum, agenesis of 10.0
33 combined immunodeficiency 10.0
34 anisocoria 9.9
35 temporal arteritis 9.9
36 ataxia and polyneuropathy, adult-onset 9.9
37 kearns-sayre syndrome 9.9
38 myopathy, tubular aggregate, 2 9.9
39 cycloplegia 9.9
40 migraine without aura 9.9
41 refractive error 9.9
42 gray platelet syndrome 9.9
43 batten-turner congenital myopathy 9.9
44 mitochondrial myopathy 9.9
45 central core myopathy 9.9 RYR1 CASQ1 ASPH
46 t cell and nk cell immunodeficiency 9.9 SYPL2 STIM2 STIM1 ORAI3 ORAI2 ORAI1
47 catecholaminergic polymorphic ventricular tachycardia 9.8 RYR1 MYH7 CASQ1 ASPH
48 coloboma of macula 9.8
49 fibrosis of extraocular muscles, congenital, 1 9.8
50 glaucoma, primary open angle 9.8

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



Diseases related to Stormorken Syndrome
Sources

Symptoms & Phenotypes for Stormorken Syndrome

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Human phenotypes related to Stormorken Syndrome:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 ichthyosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008064
4 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
5 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
6 purpura 58 31 hallmark (90%) Very frequent (99-80%) HP:0000979
7 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
8 abnormality of coagulation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001928
9 asplenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001746
10 miosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000616
11 abnormality of the musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003011
12 abnormal thrombocyte morphology 31 hallmark (90%) HP:0001872
13 stroke-like episode 31 occasional (7.5%) HP:0002401
14 myopathy 31 HP:0003198
15 thrombocytopenia 31 HP:0001873
16 elevated serum creatine kinase 31 HP:0003236
17 myalgia 31 HP:0003326
18 abnormality of thrombocytes 58 Very frequent (99-80%)
19 epistaxis 31 HP:0000421
20 migraine 31 HP:0002076
21 dyslexia 31 HP:0010522
22 hypotelorism 31 HP:0000601
23 abnormal bleeding 31 HP:0001892
24 prominent nose 31 HP:0000448
25 proximal muscle weakness 31 HP:0003701
26 increased muscle fatiguability 31 HP:0003750
27 howell-jolly bodies 31 HP:0032550

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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

Head And Neck Eyes:
hypotelorism
miosis
deep-set eyes

Laboratory Abnormalities:
increased serum creatine kinase
decreased serum calcium

Skin Nails Hair Skin:
ichthyosis

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

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

Abdomen Spleen:
asplenia
splenic aplasia
functional asplenia

Cardiovascular Vascular:
intracranial bleeding (in some patients)

Clinical features from OMIM®:

185070 (Updated 20-May-2021)

UMLS symptoms related to Stormorken Syndrome:


myalgia; headache; mydriasis; tonic pupil

MGI Mouse Phenotypes related to Stormorken Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.44 ASPH CASQ1 CRACR2A EGR4 ERP44 MICU2
Sources

Drugs & Therapeutics for Stormorken Syndrome

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Drugs for Stormorken Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
2
Bromfenac Approved Phase 4 91714-94-2 60726
3 Adjuvants, Immunologic Phase 4
4 Viscosupplements Phase 4
5 Protective Agents Phase 4
6 Immunologic Factors Phase 4
7
Ketorolac Approved Phase 2, Phase 3 74103-06-3, 66635-83-4 3826
8 Analgesics Phase 2, Phase 3
9 Antirheumatic Agents Phase 2, Phase 3
10 Anti-Inflammatory Agents Phase 2, Phase 3
11 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
12 Analgesics, Non-Narcotic Phase 2, Phase 3
13 Cyclooxygenase Inhibitors Phase 2, Phase 3
14 Ketorolac Tromethamine Phase 2, Phase 3
15
Nepafenac Approved, Investigational Phase 2 78281-72-8 151075
16
Cyclopentolate Approved Phase 2 512-15-2 2905
17 Neurotransmitter Agents Phase 2
18 Cholinergic Antagonists Phase 2
19 Cholinergic Agents Phase 2
20 Muscarinic Antagonists Phase 2
21 Parasympatholytics Phase 2
22 Ophthalmic Solutions Phase 2
23 Mydriatics Phase 2
24
Quinidine Approved, Investigational Phase 1 56-54-2 441074
25
Morphine Approved, Investigational Phase 1 57-27-2 5288826
26
Naloxegol Approved Phase 1 854601-70-0
27
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
28
Bupivacaine Approved, Investigational Phase 1 38396-39-3, 2180-92-9 2474
29 Sodium Channel Blockers Phase 1
30 Anti-Arrhythmia Agents Phase 1
31 Narcotics Phase 1
32 Adrenergic Antagonists Phase 1
33 Diuretics, Potassium Sparing Phase 1
34 Antiparasitic Agents Phase 1
35 Quinidine gluconate Phase 1
36 Adrenergic alpha-Antagonists Phase 1
37 Adrenergic Agents Phase 1
38 Analgesics, Opioid Phase 1
39 Anti-Infective Agents Phase 1
40 Antimalarials Phase 1
41 Antiprotozoal Agents Phase 1
42 Cytochrome P-450 Enzyme Inhibitors Phase 1
43
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
44
Methylcobalamin Approved, Investigational 13422-55-4
45
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
46
Ropivacaine Approved 84057-95-4 71273 175805
47 Anesthetics

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Topical 0,09% Bromfenac for Intraoperative Miosis and Pain Reduction in Femtosecond Laser-assisted Cataract Surgery Unknown status NCT03831984 Phase 4 0,09% Bromfenac;0,1% sodium hyaluronate
2 Topical 0.4% Ketorolac for the Inhibition of Miosis During Vitreoretinal Surgery: a Randomized, Placebo-controlled, Double-masked Study Completed NCT00576329 Phase 2, Phase 3 Ketorolac
3 Nepafenac Versus Ketorolac Eye Drops in Prevention of Intraoperative Miosis During Cataract Surgery Unknown status NCT03851172 Phase 2 Ketorolac Ophthalmic;Nepafenac Ophthalmic;Cyclopentolate Ophthalmic
4 A Randomized, 2-Part, Crossover, Single Center Study to Evaluate Effect of Quinidine on the Pharmacokinetics of NKTR-118 and the Concomitant Effect of Quinidine and NKTR-118 on Morphine-induced Miosis Completed NCT01533155 Phase 1 Nektar 118;Quinidine;Quinidine placebo;Morphine
5 Percutaneous Inferior Cervical Sympathetic Block for Treatment of Refractory Ventricular Tachycardia Not yet recruiting NCT04770051 Phase 1
6 Methods to Manage Intra-operative Floppy-iris Syndrome and Poor Pupil Dilation in Cataract Surgery: an Exploratory Study Unknown status NCT01778959
7 Use of APX 100 Device for Expansion of Small Pupil in Cataract Surgery and Management of Intraoperative Floppy-iris Syndrome Completed NCT01693575
8 Evaluation of an Iris Dilatation Ring in Cataract Surgery Completed NCT02434588
9 Clinical Factors Associated With Floppy Iris Signs: a Prospective Study From Two Centers Completed NCT00472888
10 Efficacy of the Canabrava/s Pupil Expansion Device in Cataract Surgery With Small Pupils: The First 30 Cases Completed NCT03206983
11 Effect of Stellate Ganglion Block Combined With Facial Nerve Block on the Treatment of Idiopathic Facial Paralysis Recruiting NCT04800666 Mecobalamin Tablets
12 Efficacy of an Ocular Bandage Contact Lens for the Treatment of Dry Eye After Complicated and Combined Cataract Surgery Recruiting NCT04120389
13 Stellate Ganglion Block and Cerebral Vasospasm After Aneurysmal Subarachnoid Hemorrhage: a Randomized Controlled Trial (BLOCK-CVS) Not yet recruiting NCT04691271

Search NIH Clinical Center for Stormorken Syndrome

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Flurbiprofen
Flurbiprofen sodium

Cochrane evidence based reviews: miosis

Sources

Genetic Tests for Stormorken Syndrome

About this section

Genetic tests related to Stormorken Syndrome:

# Genetic test Affiliating Genes
1 Stormorken Syndrome 29 STIM1
Sources

Anatomical Context for Stormorken Syndrome

About this section

MalaCards organs/tissues related to Stormorken Syndrome:

40
Eye, Spleen, Skeletal Muscle, Liver, Pituitary, Bone, Skin
Sources

Publications for Stormorken Syndrome

About this section

Articles related to Stormorken Syndrome:

(show all 50)
# Title Authors PMID Year
1
York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. 61 57 6
25577287 2015
2
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome. 61 6 57
25044882 2014
3
A dominant STIM1 mutation causes Stormorken syndrome. 6 57 61
24619930 2014
4
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. 61 6 57
24591628 2014
5
Giant electron dense chains, clusters and granules in megakaryocytes and platelets with normal dense bodies: an inherited thrombocytopenic disorder IV. Ultrastructural cytochemistry and analytical electron microscopy. 6 57
12944248 2003
6
Giant electron dense chains, clusters and granules in megakaryocytes and platelets with normal dense bodies: an inherited thrombocytopenic disorder III. Platelet analytical electron microscopy. 57 6
12944247 2003
7
Giant electron-dense chains, clusters and granules in megakaryocytes and platelets with normal dense bodies: an inherited thrombocytopenic disorder. 57 6
12745453 2003
8
Giant electron-dense chains, clusters and granules in megakaryocytes and platelets with normal dense bodies: an inherited thrombocytopenic disorder I. Megakaryocytes. 57 6
12623447 2003
9
A new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis. 6 57
4085141 1985
10
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains. 6 61
28624464 2017
11
Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1. 6
27066587 2016
12
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. 6
26436962 2015
13
Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy. 6
25666907 2015
14
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1. 6
25326555 2014
15
Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy. 6
25132132 2014
16
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations. 6
24570283 2014
17
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. 6
23299917 2013
18
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 6
23283745 2013
19
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. 6
23332920 2013
20
The York platelet syndrome: a fourth case with unusual pathologic features. 57
22757654 2013
21
Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. 6
23290139 2013
22
The York Platelet Syndrome: a third case. 57
21117861 2011
23
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. 6
19336582 2009
24
Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy. 6
17372140 2007
25
Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32. 6
14659406 2004
26
[Muscle involvement of Stormorken's syndrome]. 57
11257789 2000
27
Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation. 6
10750581 1999
28
Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome. 61
33073872 2020
29
Clinical and muscle MRI features in a family with tubular aggregate myopathy and novel STIM1 mutation. 61
32893083 2020
30
Optical Control of CRAC Channels Using Photoswitchable Azopyrazoles. 61
32330031 2020
31
Chronic Thrombocytopenia as the Initial Manifestation of STIM1-Related Disorders. 61
32234795 2020
32
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation. 61
31448844 2020
33
STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone. 61
31785581 2020
34
The inactivation domain of STIM1 acts through intramolecular binding to the coiled-coil domain in the resting state. 61
31831524 2020
35
STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases. 61
33250786 2020
36
CRAC channels and disease - From human CRAC channelopathies and animal models to novel drugs. 61
31009822 2019
37
STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice. 61
30576443 2019
38
Stormorken Syndrome: A Rare Cause of Myopathy With Tubular Aggregates and Dystrophic Features. 61
30761937 2019
39
STIM1 R304W causes muscle degeneration and impaired platelet activation in mice. 61
30390422 2018
40
Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome. 61
30243034 2018
41
[Tubular aggregate myopathy and Stormorken syndrome]. 61
30418142 2018
42
A dual mechanism promotes switching of the Stormorken STIM1 R304W mutant into the activated state. 61
29483506 2018
43
Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome. 61
29356264 2018
44
Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature. 61
30374325 2018
45
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy. 61
28058752 2017
46
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation. 61
27876257 2017
47
Inherited disorders of platelet function: selected updates. 61
26149024 2015
48
Stormorken syndrome or York platelet syndrome: A clinician's dilemma. 61
28649531 2015
49
Procoagulant expression in platelets and defects leading to clinical disorders. 61
10591659 1999
50
Studies on the haemostatic defect in a complicated syndrome. An inverse Scott syndrome platelet membrane abnormality? 61
8607103 1995
Sources

Variations for Stormorken Syndrome

About this section

ClinVar genetic disease variations for Stormorken Syndrome:

6 (show top 50) (show all 252)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYH7 NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys) SNV Pathogenic 14121 rs121913652 GRCh37: 14:23883224-23883224
GRCh38: 14:23414015-23414015
2 STIM1 NM_003156.3(STIM1):c.910C>T (p.Arg304Trp) SNV Pathogenic 132887 rs483352867 GRCh37: 11:4095850-4095850
GRCh38: 11:4074620-4074620
3 STIM1 NM_003156.3(STIM1):c.343A>T (p.Ile115Phe) SNV Pathogenic 143191 rs527236030 GRCh37: 11:4045175-4045175
GRCh38: 11:4023945-4023945
4 MYH7 NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp) SNV Pathogenic 181282 rs145734640 GRCh37: 14:23884305-23884305
GRCh38: 14:23415096-23415096
5 MYH7 NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) SNV Pathogenic 42874 rs397516127 GRCh37: 14:23896043-23896043
GRCh38: 14:23426834-23426834
6 STIM1 NM_003156.3(STIM1):c.343A>T (p.Ile115Phe) SNV Pathogenic 143191 rs527236030 GRCh37: 11:4045175-4045175
GRCh38: 11:4023945-4023945
7 STIM1 NM_003156.3(STIM1):c.910C>T (p.Arg304Trp) SNV Pathogenic 132887 rs483352867 GRCh37: 11:4095850-4095850
GRCh38: 11:4074620-4074620
8 STIM1 NM_003156.3(STIM1):c.1452del (p.Ile484fs) Deletion Pathogenic 572186 rs1565171115 GRCh37: 11:4104705-4104705
GRCh38: 11:4083475-4083475
9 MYH7 NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) SNV Pathogenic 14088 rs3218713 GRCh37: 14:23900677-23900677
GRCh38: 14:23431468-23431468
10 STIM1 NM_003156.3(STIM1):c.700_707del (p.Asn234fs) Deletion Pathogenic 643831 rs1590688717 GRCh37: 11:4091342-4091349
GRCh38: 11:4070112-4070119
11 STIM1 NM_003156.3(STIM1):c.326A>G (p.His109Arg) SNV Pathogenic 41483 rs397514677 GRCh37: 11:4045158-4045158
GRCh38: 11:4023928-4023928
12 STIM1 and overlap with 1 gene(s) NC_000011.10:g.(?_3856251)_(4091818_?)del Deletion Pathogenic 665042 GRCh37: 11:3877481-4113048
GRCh38: 11:3856251-4091818
13 STIM1 NM_003156.3(STIM1):c.910C>T (p.Arg304Trp) SNV Pathogenic 132887 rs483352867 GRCh37: 11:4095850-4095850
GRCh38: 11:4074620-4074620
14 STIM1 NC_000011.10:g.(?_4059271)_(4059406_?)del Deletion Pathogenic 832877 GRCh37: 11:4080501-4080636
GRCh38:
15 MYH7 NM_000257.4(MYH7):c.1988G>A (p.Arg663His) SNV Pathogenic 42875 rs371898076 GRCh37: 14:23896042-23896042
GRCh38: 14:23426833-23426833
16 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) SNV Pathogenic 42901 rs3218716 GRCh37: 14:23894525-23894525
GRCh38: 14:23425316-23425316
17 MYH7 NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) SNV Pathogenic 14102 rs3218714 GRCh37: 14:23898488-23898488
GRCh38: 14:23429279-23429279
18 MYH7 NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) SNV Pathogenic 14092 rs121913628 GRCh37: 14:23893268-23893268
GRCh38: 14:23424059-23424059
19 MYH7 NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) SNV Pathogenic 14125 rs267606908 GRCh37: 14:23893321-23893321
GRCh38: 14:23424112-23424112
20 MYH7 NM_000257.4(MYH7):c.1988G>A (p.Arg663His) SNV Pathogenic 42875 rs371898076 GRCh37: 14:23896042-23896042
GRCh38: 14:23426833-23426833
21 STIM1 NM_003156.3(STIM1):c.239A>C (p.Asn80Thr) SNV Likely pathogenic 189363 rs748277951 GRCh37: 11:3988881-3988881
GRCh38: 11:3967651-3967651
22 MYH7 NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr) SNV Likely pathogenic 179272 rs727504753 GRCh37: 14:23898554-23898554
GRCh38: 14:23429345-23429345
23 MYH7 NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) SNV Likely pathogenic 43100 rs397516264 GRCh37: 14:23900811-23900811
GRCh38: 14:23431602-23431602
24 STIM1 NM_003156.3(STIM1):c.1588C>T (p.Arg530Cys) SNV Likely pathogenic 461723 rs142239530 GRCh37: 11:4112558-4112558
GRCh38: 11:4091328-4091328
25 MYH7 NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) SNV Likely pathogenic 164312 rs397516171 GRCh37: 14:23893250-23893250
GRCh38: 14:23424041-23424041
26 STIM1 NM_003156.3(STIM1):c.1334C>T (p.Pro445Leu) SNV Uncertain significance 461719 rs925534511 GRCh37: 11:4104588-4104588
GRCh38: 11:4083358-4083358
27 STIM1 NM_003156.3(STIM1):c.458C>T (p.Thr153Ile) SNV Uncertain significance 461734 rs144602692 GRCh37: 11:4076828-4076828
GRCh38: 11:4055598-4055598
28 STIM1 NM_001277962.2(STIM1):c.*177A>G SNV Uncertain significance 461725 rs1176059435 GRCh37: 11:4112733-4112733
GRCh38: 11:4091503-4091503
29 STIM1 NM_003156.3(STIM1):c.1588C>T (p.Arg530Cys) SNV Uncertain significance 461723 rs142239530 GRCh37: 11:4112558-4112558
GRCh38: 11:4091328-4091328
30 STIM1 NM_003156.3(STIM1):c.488C>A (p.Ala163Asp) SNV Uncertain significance 461735 rs199893056 GRCh37: 11:4076858-4076858
GRCh38: 11:4055628-4055628
31 STIM1 NM_003156.3(STIM1):c.340C>T (p.Leu114Phe) SNV Uncertain significance 461732 rs201767533 GRCh37: 11:4045172-4045172
GRCh38: 11:4023942-4023942
32 STIM1 NM_001277962.2(STIM1):c.*258G>A SNV Uncertain significance 461727 rs145197758 GRCh37: 11:4112814-4112814
GRCh38: 11:4091584-4091584
33 STIM1 NM_003156.3(STIM1):c.57G>C (p.Gln19His) SNV Uncertain significance 461736 rs1554949765 GRCh37: 11:3877557-3877557
GRCh38: 11:3856327-3856327
34 STIM1 NM_003156.3(STIM1):c.1712A>G (p.Lys571Arg) SNV Uncertain significance 461724 rs1554972161 GRCh37: 11:4112682-4112682
GRCh38: 11:4091452-4091452
35 STIM1 NM_003156.3(STIM1):c.1919G>A (p.Arg640Gln) SNV Uncertain significance 530875 rs769001716 GRCh37: 11:4112889-4112889
GRCh38: 11:4091659-4091659
36 STIM1 NM_003156.3(STIM1):c.9A>G (p.Val3=) SNV Uncertain significance 530876 rs765248656 GRCh37: 11:3877509-3877509
GRCh38: 11:3856279-3856279
37 STIM1 NM_001277962.2(STIM1):c.*374G>A SNV Uncertain significance 530877 rs201466902 GRCh37: 11:4112930-4112930
GRCh38: 11:4091700-4091700
38 STIM1 NM_003156.3(STIM1):c.1291C>A (p.Gln431Lys) SNV Uncertain significance 530878 rs199666087 GRCh37: 11:4104545-4104545
GRCh38: 11:4083315-4083315
39 STIM1 NM_003156.3(STIM1):c.1382T>C (p.Met461Thr) SNV Uncertain significance 530879 rs1444907403 GRCh37: 11:4104636-4104636
GRCh38: 11:4083406-4083406
40 STIM1 NM_001277962.2(STIM1):c.*38C>T SNV Uncertain significance 530880 rs370846246 GRCh37: 11:4112594-4112594
GRCh38: 11:4091364-4091364
41 STIM1 NM_003156.3(STIM1):c.473A>C (p.Gln158Pro) SNV Uncertain significance 530881 rs899854132 GRCh37: 11:4076843-4076843
GRCh38: 11:4055613-4055613
42 STIM1 NM_003156.3(STIM1):c.1819G>A (p.Gly607Ser) SNV Uncertain significance 566360 rs200324378 GRCh37: 11:4112789-4112789
GRCh38: 11:4091559-4091559
43 STIM1 NM_003156.3(STIM1):c.1672C>T (p.Arg558Trp) SNV Uncertain significance 452077 rs747547917 GRCh37: 11:4112642-4112642
GRCh38: 11:4091412-4091412
44 STIM1 NM_001277962.2(STIM1):c.*15C>T SNV Uncertain significance 567209 rs1382628661 GRCh37: 11:4112571-4112571
GRCh38: 11:4091341-4091341
45 STIM1 NM_001277962.2(STIM1):c.*368G>T SNV Uncertain significance 567939 rs201992816 GRCh37: 11:4112924-4112924
GRCh38: 11:4091694-4091694
46 STIM1 NM_001277962.2(STIM1):c.*168C>T SNV Uncertain significance 568147 rs750326949 GRCh37: 11:4112724-4112724
GRCh38: 11:4091494-4091494
47 STIM1 NM_003156.3(STIM1):c.1867G>A (p.Asp623Asn) SNV Uncertain significance 568211 rs765041336 GRCh37: 11:4112837-4112837
GRCh38: 11:4091607-4091607
48 STIM1 NM_003156.3(STIM1):c.149G>A (p.Arg50Gln) SNV Uncertain significance 568734 rs201245746 GRCh37: 11:3988791-3988791
GRCh38: 11:3967561-3967561
49 STIM1 NM_003156.3(STIM1):c.1377C>G (p.Ser459Arg) SNV Uncertain significance 568947 rs1565171050 GRCh37: 11:4104631-4104631
GRCh38: 11:4083401-4083401
50 STIM1 NM_001277962.2(STIM1):c.*3G>A SNV Uncertain significance 569429 rs746517083 GRCh37: 11:4112559-4112559
GRCh38: 11:4091329-4091329

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

72
# Symbol AA change Variation ID SNP ID
1 STIM1 p.Arg304Trp VAR_071476 rs483352867
2 STIM1 p.Ile115Phe VAR_074037 rs527236030

Sources

Expression for Stormorken Syndrome

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Search GEO for disease gene expression data for Stormorken Syndrome.
Sources

Pathways for Stormorken Syndrome

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Pathways related to Stormorken Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Platelet activation hsa04611

Pathways related to Stormorken Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Cardiac conduction 65
Show member pathways
 12.28 STIM1 RYR1 ORAI2 ORAI1 ASPH
2
Ca, cAMP and Lipid Signaling 4
11.68 STIM2 STIM1 RYR1
3
Calcium signaling pathway 36
11.66 STIM2 STIM1 RYR1 PRKACG ORAI3 ORAI2
4
TCR signaling in naive CD4+ T cells 1
Show member pathways
 11.58 STIM1 RASGRP2 ORAI1
5
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers 65
Show member pathways
 11.52 STIM1 ORAI2 ORAI1
6
Platelet activation 36
11.35 STIM1 RASGRP2 PRKACG ORAI1
7
Rap1 signalling 65
10.46 RASGRP2 PRKACG
Sources

GO Terms for Stormorken Syndrome

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.39 SYPL2 STIMATE STIM2 STIM1 SARAF RYR1
2 endoplasmic reticulum membrane GO:0005789 9.98 STIMATE STIM2 STIM1 SARAF ESYT1 ERP44
3 endoplasmic reticulum GO:0005783 9.97 STIMATE STIM2 STIM1 SARAF NBEAL2 ESYT1
4 Z disc GO:0030018 9.67 RYR1 MYH7 CASQ1
5 integral component of endoplasmic reticulum membrane GO:0030176 9.67 STIM1 SARAF ESYT1 ASPH
6 sarcoplasmic reticulum GO:0016529 9.56 STIM1 RYR1 CASQ1 ASPH
7 smooth endoplasmic reticulum GO:0005790 9.54 RYR1 CASQ1
8 I band GO:0031674 9.52 RYR1 CASQ1
9 sarcoplasmic reticulum lumen GO:0033018 9.48 CASQ1 ASPH
10 junctional sarcoplasmic reticulum membrane GO:0014701 9.46 RYR1 ASPH
11 terminal cisterna GO:0014802 9.4 RYR1 CASQ1
12 cortical endoplasmic reticulum GO:0032541 9.33 STIMATE STIM1 ASPH
13 sarcoplasmic reticulum membrane GO:0033017 9.26 STIM1 RYR1 CASQ1 ASPH
14 calcium channel complex GO:0034704 8.92 RYR1 ORAI1 MICU2 ASPH

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.93 STIM2 STIM1 SARAF RYR1 ORAI1 CRACR2A
2 calcium ion transport GO:0006816 9.73 STIM2 STIM1 SARAF RYR1 ORAI1 CRACR2A
3 cellular calcium ion homeostasis GO:0006874 9.71 SYPL2 STIM2 STIM1 RYR1
4 muscle contraction GO:0006936 9.7 RYR1 MYH7 ASPH
5 calcium ion transmembrane transport GO:0070588 9.7 STIM2 STIM1 RYR1 ORAI3 ORAI2 ORAI1
6 cellular response to calcium ion GO:0071277 9.67 RYR1 RASGRP2 ASPH
7 regulation of cardiac conduction GO:1903779 9.62 STIM1 RYR1 CASQ1 ASPH
8 positive regulation of calcium ion transport GO:0051928 9.61 STIM2 ORAI1 CRACR2A
9 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.54 CASQ1 ASPH
10 regulation of store-operated calcium entry GO:2001256 9.54 STIM1 SARAF CASQ1
11 detection of calcium ion GO:0005513 9.51 STIM1 ASPH
12 positive regulation of adenylate cyclase activity GO:0045762 9.48 STIM1 ORAI1
13 activation of store-operated calcium channel activity GO:0032237 9.35 STIMATE STIM2 STIM1 CRACR2A ASPH
14 store-operated calcium entry GO:0002115 9.1 STIM2 STIM1 ORAI3 ORAI2 ORAI1 CRACR2A

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 9.61 STIM2 STIM1 RYR1 RASGRP2 MICU2 ESYT1
2 calcium channel regulator activity GO:0005246 9.33 STIMATE STIM2 STIM1
3 store-operated calcium channel activity GO:0015279 9.02 STIM2 STIM1 ORAI3 ORAI2 ORAI1
Sources

Sources for Stormorken Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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