STRMK
MCID: STR081
MIFTS: 55

Stormorken Syndrome (STRMK)

Categories: Blood diseases, Eye diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Stormorken Syndrome

MalaCards integrated aliases for Stormorken Syndrome:

Name: Stormorken Syndrome 57 11 19 42 58 73 28 5 43 14 71
Thrombocytopathy, Asplenia, and Miosis 57 42 73
Stormorken-Sjaastad-Langslet Syndrome 19 42 58
York Platelet Syndrome 57 73
Strmk 57 73
Yps 57 73
Thrombocytopathy-Asplenia-Miosis Syndrome 58
Thrombocytopathy, Asplenia and Miosis 11
Thrombocytopathy Asplenia Miosis 19
Miosis Disorder 71

Characteristics:


Inheritance:

Stormorken Syndrome: Autosomal dominant 57
Stormorken-Sjaastad-Langslet Syndrome: Autosomal dominant 58

Prevelance:

Stormorken-Sjaastad-Langslet Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Stormorken-Sjaastad-Langslet Syndrome: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
progressive disorder
onset of bleeding symptoms in childhood or young adulthood


HPO:

30
stormorken syndrome:
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare haematological diseases


Summaries for Stormorken Syndrome

MedlinePlus Genetics: 42 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 thrombocytopenia, 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 Response to elevated platelet cytosolic Ca2+ and Cardiac conduction. Affiliated tissues include eye, spleen and skin, and related phenotypes are neurological speech impairment and short stature

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 08-Dec-2022)

Disease Ontology: 11 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: 19 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.

Orphanet: 58 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.

UniProtKB/Swiss-Prot: 73 A rare autosomal dominant disease characterized by mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis.

Related Diseases for Stormorken Syndrome

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 myopathy, tubular aggregate, 1 30.8 STIM2 STIM1 ORAI1 CASQ1
2 thrombocytopenia 30.0 TUBB1 STIM1 SLFN14 NBEAL2 ANKRD26
3 immunodeficiency 10 29.7 TRPC3 TRPC1 STIM2 STIM1 ORAI3 ORAI2
4 myopathy 10.4
5 ichthyosis 10.4
6 dyslexia 10.3
7 immunodeficiency 9 10.2 STIM1 ORAI1
8 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
9 right atrial isomerism 10.2
10 anhidrosis 10.2 STIM2 STIM1 ORAI1
11 qualitative platelet defect 10.1
12 blood platelet disease 10.1
13 bleeding disorder, platelet-type, 18 10.1 SLFN14 NBEAL2
14 amelogenesis imperfecta, type iiia 10.1 STIM2 STIM1 ORAI3 ORAI2
15 brody disease 10.0 RYR1 CASQ1
16 acquired thrombocytopenia 10.0 NBEAL2 ANKRD26
17 scabies 10.0
18 thrombocytopenic purpura, autoimmune 10.0
19 corpus callosum, agenesis of 10.0
20 combined immunodeficiency 10.0
21 purpura 10.0
22 pseudo-von willebrand disease 10.0 NBEAL2 ANKRD26
23 bronchiectasis 9.9
24 thrombocytopenia-absent radius syndrome 9.9 PRKACG NBEAL2 ANKRD26
25 mutilating palmoplantar keratoderma with periorificial keratotic plaques 9.9 TRPC3 TRPC1
26 gray platelet syndrome 9.9
27 batten-turner congenital myopathy 9.9
28 mitochondrial myopathy 9.9
29 glanzmann thrombasthenia 1 9.8 TUBB1 NBEAL2 ANKRD26
30 mucolipidosis iv 9.8 TRPC3 TRPC1
31 myh-9 related disease 9.7 TUBB1 SLFN14 NBEAL2 ANKRD26
32 malignant hyperthermia 9.7 TRPC3 STIM1 RYR1 JPH4 CASQ1
33 amegakaryocytic thrombocytopenia, congenital 9.7 TUBB1 SLFN14 NBEAL2 ANKRD26
34 bernard-soulier syndrome 9.7 TUBB1 SLFN14 NBEAL2 ANKRD26
35 t cell and nk cell immunodeficiency 9.7 TRPC3 TRPC1 STIM2 STIM1 ORAI3 ORAI2

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



Diseases related to Stormorken Syndrome

Symptoms & Phenotypes for Stormorken Syndrome

Human phenotypes related to Stormorken Syndrome:

58 30 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002167
2 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
3 ichthyosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008064
4 anemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001903
5 deeply set eye 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000490
6 purpura 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000979
7 abnormality of thrombocytes 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001872
8 high forehead 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000348
9 abnormality of coagulation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001928
10 asplenia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001746
11 miosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000616
12 abnormality of the musculature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003011
13 stroke-like episode 30 Occasional (7.5%) HP:0002401
14 myopathy 30 HP:0003198
15 thrombocytopenia 30 HP:0001873
16 elevated circulating creatine kinase concentration 30 HP:0003236
17 myalgia 30 HP:0003326
18 epistaxis 30 HP:0000421
19 migraine 30 HP:0002076
20 dyslexia 30 HP:0010522
21 hypotelorism 30 HP:0000601
22 abnormal bleeding 30 HP:0001892
23 prominent nose 30 HP:0000448
24 proximal muscle weakness 30 HP:0003701
25 increased muscle fatiguability 30 HP:0003750
26 howell-jolly bodies 30 HP:0032550

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

UMLS symptoms related to Stormorken Syndrome:


myalgia; headache; mydriasis; tonic pupil

MGI Mouse Phenotypes related to Stormorken Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 ANKRD26 CASQ1 CRACR2A JPH4 NBEAL2 ORAI1
2 immune system MP:0005387 9.7 CRACR2A JPH4 NBEAL2 ORAI1 ORAI2 RYR1
3 hematopoietic system MP:0005397 9.44 CRACR2A JPH4 NBEAL2 ORAI1 ORAI2 RYR1

Drugs & Therapeutics for Stormorken Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of APX 100 Device for Expansion of Small Pupil in Cataract Surgery and Management of Intraoperative Floppy-iris Syndrome Completed NCT01693575

Search NIH Clinical Center for Stormorken Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Flurbiprofen
Flurbiprofen sodium

Cochrane evidence based reviews: stormorken syndrome

Genetic Tests for Stormorken Syndrome

Genetic tests related to Stormorken Syndrome:

# Genetic test Affiliating Genes
1 Stormorken Syndrome 28 STIM1

Anatomical Context for Stormorken Syndrome

Organs/tissues related to Stormorken Syndrome:

MalaCards : Eye, Spleen, Skin, Bone Marrow, Bone, Skeletal Muscle
ODiseA: Blood And Bone Marrow

Publications for Stormorken Syndrome

Articles related to Stormorken Syndrome:

(show all 49)
# Title Authors PMID Year
1
York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. 62 57 5
25577287 2015
2
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome. 62 57 5
25044882 2014
3
A dominant STIM1 mutation causes Stormorken syndrome. 62 57 5
24619930 2014
4
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. 62 57 5
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. 57 5
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 5
12944247 2003
7
Giant electron-dense chains, clusters and granules in megakaryocytes and platelets with normal dense bodies: an inherited thrombocytopenic disorder. 57 5
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 5
12623447 2003
9
A new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis. 57 5
4085141 1985
10
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains. 62 5
28624464 2017
11
The York platelet syndrome: a fourth case with unusual pathologic features. 62 57
22757654 2013
12
The York Platelet Syndrome: a third case. 62 57
21117861 2011
13
Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1. 5
27066587 2016
14
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations. 5
24570283 2014
15
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. 5
23332920 2013
16
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. 5
20876309 2010
17
STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. 5
19420366 2009
18
[Muscle involvement of Stormorken's syndrome]. 57
11257789 2000
19
STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39. 62
35636153 2022
20
Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice. 62
35805973 2022
21
Combination of thrombocytopenia and hypocalcemia may indicate the possibility of Stormorken Syndrome with STIM1 mutation. 62
34702682 2022
22
Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement. 62
35812399 2022
23
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1. 62
34368974 2021
24
Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure. 62
34359900 2021
25
Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report. 62
34408715 2021
26
Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome. 62
33073872 2020
27
Clinical and muscle MRI features in a family with tubular aggregate myopathy and novel STIM1 mutation. 62
32893083 2020
28
Optical Control of CRAC Channels Using Photoswitchable Azopyrazoles. 62
32330031 2020
29
Chronic Thrombocytopenia as the Initial Manifestation of STIM1-Related Disorders. 62
32234795 2020
30
STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases. 62
33250786 2020
31
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation. 62
31448844 2020
32
STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone. 62
31785581 2020
33
The inactivation domain of STIM1 acts through intramolecular binding to the coiled-coil domain in the resting state. 62
31831524 2020
34
CRAC channels and disease - From human CRAC channelopathies and animal models to novel drugs. 62
31009822 2019
35
Stormorken Syndrome: A Rare Cause of Myopathy With Tubular Aggregates and Dystrophic Features. 62
30761937 2019
36
STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice. 62
30576443 2019
37
Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome. 62
30243034 2018
38
STIM1 R304W causes muscle degeneration and impaired platelet activation in mice. 62
30390422 2018
39
[Tubular aggregate myopathy and Stormorken syndrome]. 62
30418142 2018
40
A dual mechanism promotes switching of the Stormorken STIM1 R304W mutant into the activated state. 62
29483506 2018
41
Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome. 62
29356264 2018
42
Myopathy in the York Platelet Syndrome: An Underrecognized Complication. 62
30159190 2018
43
Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature. 62
30374325 2018
44
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy. 62
28058752 2017
45
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation. 62
27876257 2017
46
Inherited disorders of platelet function: selected updates. 62
26149024 2015
47
Stormorken syndrome or York platelet syndrome: A clinician's dilemma. 62
28649531 2015
48
Procoagulant expression in platelets and defects leading to clinical disorders. 62
10591659 1999
49
Studies on the haemostatic defect in a complicated syndrome. An inverse Scott syndrome platelet membrane abnormality? 62
8607103 1995

Variations for Stormorken Syndrome

ClinVar genetic disease variations for Stormorken Syndrome:

5 (show top 50) (show all 421)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STIM1 NC_000011.9:g.(?_3988762)_(4113028_?)del DEL Pathogenic
1371047 GRCh37: 11:3988762-4113028
GRCh38:
2 STIM1 NM_001382567.1(STIM1):c.869_887del (p.Ile290fs) DEL Pathogenic
1365102 GRCh37: 11:4095807-4095825
GRCh38: 11:4074577-4074595
3 STIM1 NM_001382567.1(STIM1):c.1189del (p.Ala397fs) DEL Pathogenic
1457776 GRCh37: 11:4104162-4104162
GRCh38: 11:4082932-4082932
4 STIM1 NC_000011.9:g.(?_4076736)_(4076887_?)del DEL Pathogenic
1459002 GRCh37: 11:4076736-4076887
GRCh38:
5 STIM1 NM_001382567.1(STIM1):c.163_164del (p.Leu55fs) DEL Pathogenic
1452705 GRCh37: 11:3988805-3988806
GRCh38: 11:3967575-3967576
6 STIM1 and overlap with 3 gene(s) NC_000011.10:g.(?_3856251)_(4091818_?)del DEL Pathogenic
Pathogenic
665042 GRCh37: 11:3877481-4113048
GRCh38: 11:3856251-4091818
7 STIM1 NC_000011.10:g.(?_4059271)_(4059406_?)del DEL Pathogenic
832877 GRCh37: 11:4080501-4080636
GRCh38:
8 STIM1 NM_001382567.1(STIM1):c.343A>T (p.Ile115Phe) SNV Pathogenic
Pathogenic
143191 rs527236030 GRCh37: 11:4045175-4045175
GRCh38: 11:4023945-4023945
9 STIM1 NM_001382567.1(STIM1):c.1452del (p.Ile484fs) DEL Pathogenic
572186 rs1565171115 GRCh37: 11:4104705-4104705
GRCh38: 11:4083475-4083475
10 STIM1 NM_001382567.1(STIM1):c.262A>G (p.Ser88Gly) SNV Pathogenic
Uncertain Significance
1395833 GRCh37: 11:3988904-3988904
GRCh38: 11:3967674-3967674
11 STIM1 NM_001382567.1(STIM1):c.700_707del (p.Asn234fs) DEL Pathogenic
643831 rs1590688717 GRCh37: 11:4091342-4091349
GRCh38: 11:4070112-4070119
12 STIM1 NM_001382567.1(STIM1):c.326A>G (p.His109Arg) SNV Pathogenic
41483 rs397514677 GRCh37: 11:4045158-4045158
GRCh38: 11:4023928-4023928
13 STIM1 NM_001382567.1(STIM1):c.910C>T (p.Arg304Trp) SNV Pathogenic
Pathogenic
Pathogenic
132887 rs483352867 GRCh37: 11:4095850-4095850
GRCh38: 11:4074620-4074620
14 STIM1 NM_001382567.1(STIM1):c.1681C>T (p.Arg561Cys) SNV Likely Pathogenic
Uncertain Significance
461723 rs142239530 GRCh37: 11:4112558-4112558
GRCh38: 11:4091328-4091328
15 STIM1 NM_001382567.1(STIM1):c.563A>G (p.Gln188Arg) SNV Likely Pathogenic
1703798 GRCh37: 11:4080576-4080576
GRCh38: 11:4059346-4059346
16 STIM1 NM_001382567.1(STIM1):c.386-1G>A SNV Likely Pathogenic
1476711 GRCh37: 11:4076755-4076755
GRCh38: 11:4055525-4055525
17 STIM1 NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr) SNV Likely Pathogenic
189363 rs748277951 GRCh37: 11:3988881-3988881
GRCh38: 11:3967651-3967651
18 STIM1 NM_001382567.1(STIM1):c.1378T>G (p.Trp460Gly) SNV Uncertain Significance
863348 rs2094475504 GRCh37: 11:4104632-4104632
GRCh38: 11:4083402-4083402
19 STIM1 NM_001382567.1(STIM1):c.1901C>T (p.Ala634Val) SNV Uncertain Significance
864286 rs749622475 GRCh37: 11:4112778-4112778
GRCh38: 11:4091548-4091548
20 STIM1 NM_001382567.1(STIM1):c.658A>G (p.Ile220Val) SNV Uncertain Significance
834741 rs2094394322 GRCh37: 11:4091300-4091300
GRCh38: 11:4070070-4070070
21 STIM1 NM_001382567.1(STIM1):c.1355C>G (p.Ala452Gly) SNV Uncertain Significance
835703 rs114915823 GRCh37: 11:4104609-4104609
GRCh38: 11:4083379-4083379
22 STIM1 NM_001382567.1(STIM1):c.623A>G (p.His208Arg) SNV Uncertain Significance
836604 rs2094394104 GRCh37: 11:4091265-4091265
GRCh38: 11:4070035-4070035
23 STIM1 NM_001382567.1(STIM1):c.1252G>A (p.Glu418Lys) SNV Uncertain Significance
837525 rs774565443 GRCh37: 11:4104506-4104506
GRCh38: 11:4083276-4083276
24 STIM1 NM_001382567.1(STIM1):c.1675A>G (p.Ser559Gly) SNV Uncertain Significance
842745 rs2094523397 GRCh37: 11:4112552-4112552
GRCh38: 11:4091322-4091322
25 STIM1 NM_001382567.1(STIM1):c.304A>G (p.Thr102Ala) SNV Uncertain Significance
848609 rs2093978275 GRCh37: 11:4045136-4045136
GRCh38: 11:4023906-4023906
26 STIM1 NM_001382567.1(STIM1):c.1393C>T (p.Arg465Cys) SNV Uncertain Significance
849806 rs749694629 GRCh37: 11:4104647-4104647
GRCh38: 11:4083417-4083417
27 STIM1 NM_001382567.1(STIM1):c.1598G>A (p.Arg533His) SNV Uncertain Significance
852471 rs555016539 GRCh37: 11:4107737-4107737
GRCh38: 11:4086507-4086507
28 STIM1 NM_001382567.1(STIM1):c.2020C>T (p.Arg674Cys) SNV Uncertain Significance
855253 rs779108452 GRCh37: 11:4112897-4112897
GRCh38: 11:4091667-4091667
29 STIM1 NM_001382567.1(STIM1):c.1285C>T (p.Arg429Cys) SNV Uncertain Significance
41464 rs397514671 GRCh37: 11:4104539-4104539
GRCh38: 11:4083309-4083309
30 STIM1 NM_001382567.1(STIM1):c.1447G>A (p.Glu483Lys) SNV Uncertain Significance
858407 rs1449184284 GRCh37: 11:4104701-4104701
GRCh38: 11:4083471-4083471
31 STIM1 NM_001382567.1(STIM1):c.1700A>G (p.Lys567Arg) SNV Uncertain Significance
859464 rs140122024 GRCh37: 11:4112577-4112577
GRCh38: 11:4091347-4091347
32 STIM1 NM_001382567.1(STIM1):c.1459C>T (p.Pro487Ser) SNV Uncertain Significance
860737 rs2094476134 GRCh37: 11:4104713-4104713
GRCh38: 11:4083483-4083483
33 STIM1 NM_001382567.1(STIM1):c.1873C>T (p.His625Tyr) SNV Uncertain Significance
860940 rs201838782 GRCh37: 11:4112750-4112750
GRCh38: 11:4091520-4091520
34 STIM1 NM_001382567.1(STIM1):c.2125A>T (p.Ile709Phe) SNV Uncertain Significance
1359954 GRCh37: 11:4113002-4113002
GRCh38: 11:4091772-4091772
35 STIM1 NM_001382567.1(STIM1):c.871A>G (p.Asn291Asp) SNV Uncertain Significance
992279 rs201523207 GRCh37: 11:4095811-4095811
GRCh38: 11:4074581-4074581
36 STIM1 NM_001382567.1(STIM1):c.710C>T (p.Ser237Phe) SNV Uncertain Significance
1372035 GRCh37: 11:4091352-4091352
GRCh38: 11:4070122-4070122
37 STIM1 NM_001382567.1(STIM1):c.2093C>G (p.Ser698Cys) SNV Uncertain Significance
1376063 GRCh37: 11:4112970-4112970
GRCh38: 11:4091740-4091740
38 STIM1 NM_001382567.1(STIM1):c.383A>T (p.Glu128Val) SNV Uncertain Significance
1363361 GRCh37: 11:4045215-4045215
GRCh38: 11:4023985-4023985
39 STIM1 NM_001382567.1(STIM1):c.1010C>G (p.Ser337Cys) SNV Uncertain Significance
1408388 GRCh37: 11:4103454-4103454
GRCh38: 11:4082224-4082224
40 STIM1 NM_001382567.1(STIM1):c.2012G>T (p.Arg671Leu) SNV Uncertain Significance
1400818 GRCh37: 11:4112889-4112889
GRCh38: 11:4091659-4091659
41 STIM1 NM_001382567.1(STIM1):c.515C>T (p.Thr172Ile) SNV Uncertain Significance
1398687 GRCh37: 11:4080528-4080528
GRCh38: 11:4059298-4059298
42 STIM1 NM_001382567.1(STIM1):c.1774G>A (p.Glu592Lys) SNV Uncertain Significance
1411176 GRCh37: 11:4112651-4112651
GRCh38: 11:4091421-4091421
43 STIM1 NM_001382567.1(STIM1):c.1981G>C (p.Val661Leu) SNV Uncertain Significance
1362297 GRCh37: 11:4112858-4112858
GRCh38: 11:4091628-4091628
44 STIM1 NM_001382567.1(STIM1):c.101C>T (p.Thr34Ile) SNV Uncertain Significance
1402094 GRCh37: 11:3877601-3877601
GRCh38: 11:3856371-3856371
45 STIM1 NM_001382567.1(STIM1):c.2131AAG[1] (p.Lys712del) MICROSAT Uncertain Significance
1401627 GRCh37: 11:4113008-4113010
GRCh38: 11:4091778-4091780
46 STIM1 NM_001382567.1(STIM1):c.62A>G (p.Gln21Arg) SNV Uncertain Significance
1426521 GRCh37: 11:3877562-3877562
GRCh38: 11:3856332-3856332
47 STIM1 NM_001382567.1(STIM1):c.704G>A (p.Arg235His) SNV Uncertain Significance
1427074 GRCh37: 11:4091346-4091346
GRCh38: 11:4070116-4070116
48 STIM1 NM_001382567.1(STIM1):c.1943A>T (p.His648Leu) SNV Uncertain Significance
1469273 GRCh37: 11:4112820-4112820
GRCh38: 11:4091590-4091590
49 STIM1 NM_001382567.1(STIM1):c.1251C>T (p.Ser417=) SNV Uncertain Significance
1468249 GRCh37: 11:4104505-4104505
GRCh38: 11:4083275-4083275
50 STIM1 NM_001382567.1(STIM1):c.1999C>A (p.Leu667Met) SNV Uncertain Significance
1472835 GRCh37: 11:4112876-4112876
GRCh38: 11:4091646-4091646

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

73
# Symbol AA change Variation ID SNP ID
1 STIM1 p.Arg304Trp VAR_071476 rs483352867
2 STIM1 p.Ile115Phe VAR_074037 rs527236030

Expression for Stormorken Syndrome

Search GEO for disease gene expression data for Stormorken Syndrome.

Pathways for Stormorken Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.94 TUBB1 TRPC3 STIM1 PRKACG ORAI2 ORAI1
2
Show member pathways
12.17 TRPC1 STIM1 RYR1 ORAI2 ORAI1 CASQ1
3
Show member pathways
12.09 TRPC3 TRPC1 RYR1 CASQ1
4
Show member pathways
11.72 TRPC3 STIM1 ORAI2 ORAI1
5 11.64 STIM2 STIM1 RYR1
6 10.88 TRPC3 TRPC1
7
Show member pathways
10.52 TRPC1 STIM1 ORAI2 ORAI1
8 10.34 TRPC1 RYR1

GO Terms for Stormorken Syndrome

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 10.34 STIMATE STIM2 STIM1 SARAF NBEAL2 JPH4
2 membrane GO:0016020 10.15 ESYT1 JPH4 ORAI1 ORAI2 ORAI3 RYR1
3 membrane GO:0016021 10.15 ESYT1 JPH4 ORAI1 ORAI2 ORAI3 RYR1
4 endoplasmic reticulum-plasma membrane contact site GO:0140268 9.78 STIMATE SARAF
5 sarcoplasmic reticulum GO:0016529 9.77 STIM1 RYR1 CASQ1
6 cation channel complex GO:0034703 9.76 TRPC1 TRPC3
7 sarcoplasmic reticulum membrane GO:0033017 9.73 CASQ1 RYR1 STIM1
8 junctional sarcoplasmic reticulum membrane GO:0014701 9.71 RYR1 JPH4
9 cortical endoplasmic reticulum GO:0032541 9.62 STIMATE STIM1
10 obsolete integral component of endoplasmic reticulum membrane GO:0030176 9.61 STIM1 SARAF ESYT1
11 terminal cisterna GO:0014802 9.33 RYR1 CASQ1
12 smooth endoplasmic reticulum GO:0005790 9.1 RYR1 JPH4 CASQ1

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 10.07 ORAI1 ORAI2 ORAI3 RYR1 STIM2 TRPC1
2 monoatomic ion transport GO:0006811 9.97 TRPC3 TRPC1 STIM2 STIM1 SARAF RYR1
3 regulation of store-operated calcium entry GO:2001256 9.92 STIM1 SARAF JPH4 CASQ1
4 regulation of cytosolic calcium ion concentration GO:0051480 9.91 TRPC3 TRPC1 RYR1
5 positive regulation of calcium ion transport GO:0051928 9.88 STIM2 ORAI1 CRACR2A
6 positive regulation of adenylate cyclase activity GO:0045762 9.78 STIM1 ORAI1
7 activation of store-operated calcium channel activity GO:0032237 9.76 STIMATE STIM2 STIM1 CRACR2A
8 calcium ion transport GO:0006816 9.73 TRPC3 TRPC1 STIM2 STIM1 SARAF RYR1
9 manganese ion transport GO:0006828 9.46 TRPC3 TRPC1
10 store-operated calcium entry GO:0002115 9.4 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 channel regulator activity GO:0005246 9.63 STIMATE STIM2 STIM1
2 inositol 1,4,5 trisphosphate binding GO:0070679 9.56 TRPC1 TRPC3
3 calcium channel activity GO:0005262 9.56 TRPC3 TRPC1 RYR1 ORAI1
4 store-operated calcium channel activity GO:0015279 9.4 TRPC3 TRPC1 STIM2 ORAI3 ORAI2 ORAI1

Sources for Stormorken Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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