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STRMK
MCID: STR081
MIFTS: 51

Stormorken Syndrome (STRMK)

Categories: Blood diseases, Eye diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Stormorken Syndrome

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MalaCards integrated aliases for Stormorken Syndrome:

Name: Stormorken Syndrome 58 12 54 26 60 76 38 30 6 45 15 41 74
Thrombocytopathy, Asplenia, and Miosis 58 26 76
Stormorken-Sjaastad-Langslet Syndrome 54 26 60
York Platelet Syndrome 58 76
Strmk 58 76
Yps 58 76
Thrombocytopathy-Asplenia-Miosis Syndrome 60
Thrombocytopathy, Asplenia and Miosis 12
Thrombocytopathy Asplenia Miosis 54
York Platelet Syndrome; Yps 58
Miosis Disorder 74
Miosis 45

Characteristics:

Orphanet epidemiological data:

60
stormorken-sjaastad-langslet syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
stormorken syndrome:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare eye diseases
Rare haematological diseases


Sources

Summaries for Stormorken Syndrome

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Genetics Home Reference : 26 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, tubular aggregate, 1 and isochromosome yp, 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. Affiliated tissues include eye, skin and spleen, 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.

NIH Rare Diseases : 54 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.

OMIM : 58 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 : 76 Stormorken syndrome: A rare autosomal dominant disease characterized by mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis.

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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 80)
# Related Disease Score Top Affiliating Genes
1 myopathy, tubular aggregate, 1 29.7 CASQ1 ORAI1 STIM1 STIM2
2 isochromosome yp 12.3
3 ophthalmoplegia totalis with ptosis and miosis 12.1
4 microcoria, congenital 11.9
5 spastic ataxia 7, autosomal dominant 11.7
6 horner's syndrome 11.2
7 horner syndrome, congenital 11.1
8 hemicrania continua 11.1
9 isolated congenital megalocornea 11.1
10 ptosis 10.4
11 cataract 10.3
12 localized lipodystrophy 10.3 DMD DYSF
13 autosomal recessive limb-girdle muscular dystrophy type 2c 10.3 DMD DYSF
14 muscle disorders 10.3
15 myopathy 10.3
16 autosomal recessive limb-girdle muscular dystrophy type 2b 10.3 DMD DYSF
17 muscular dystrophy, limb-girdle, autosomal recessive 7 10.3 DMD DYSF
18 muscular dystrophy, limb-girdle, autosomal recessive 6 10.2 DMD DYSF
19 gonadal dysgenesis 10.2
20 muscular dystrophy, becker type 10.2 DMD DYSF
21 myoglobinuria, recurrent 10.2 COX5A DMD
22 anhidrosis 10.1
23 anterior compartment syndrome 10.1 DYSF F2
24 xq12-q13.3 duplication syndrome 10.1
25 temporal arteritis 10.1
26 myopathy, tubular aggregate, 2 10.1
27 dyslexia 10.1
28 headache 10.1
29 corpus callosum, agenesis of 10.1
30 inherited blood coagulation disease 10.0 F2 NBEAL2
31 muscular disease 10.0 CASQ1 DMD DYSF
32 bladder cancer 10.0
33 blood group--wright antigen 10.0
34 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.0
35 melanosis, neurocutaneous 10.0
36 pancreatic cancer 10.0
37 spermatogenic failure, x-linked, 1 10.0
38 gonadoblastoma 10.0
39 horns in sheep 10.0
40 blood group, junior system 10.0
41 oligoasthenoteratozoospermia 10.0
42 azoospermia 10.0
43 mixed gonadal dysgenesis 10.0
44 melanoma 10.0
45 sex development disorder 10.0
46 yellow fever 10.0
47 anisocoria 9.9
48 coloboma of macula 9.9
49 megalocornea 9.9
50 retinitis pigmentosa 9.9

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:

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002167
2 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
3 ichthyosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008064
4 anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001903
5 deeply set eye 60 33 hallmark (90%) Very frequent (99-80%) HP:0000490
6 abnormality of the musculature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003011
7 purpura 60 33 hallmark (90%) Very frequent (99-80%) HP:0000979
8 high forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000348
9 abnormality of coagulation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001928
10 asplenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001746
11 miosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000616
12 abnormal thrombocyte morphology 33 hallmark (90%) HP:0001872
13 stroke-like episode 33 occasional (7.5%) HP:0002401
14 myopathy 33 HP:0003198
15 abnormal bleeding 33 HP:0001892
16 thrombocytopenia 33 HP:0001873
17 migraine 33 HP:0002076
18 myalgia 33 HP:0003326
19 abnormality of thrombocytes 60 Very frequent (99-80%)
20 epistaxis 33 HP:0000421
21 dyslexia 33 HP:0010522
22 hypotelorism 33 HP:0000601
23 proximal muscle weakness 33 HP:0003701
24 prominent nose 33 HP:0000448
25 increased muscle fatiguability 33 HP:0003750
26 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Growth Height:
short stature

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

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

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
increased bleeding tendency due to platelet dysfunction
howell-jolly bodies

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

UMLS symptoms related to Stormorken Syndrome:


myalgia, headache, mydriasis, tonic pupil

MGI Mouse Phenotypes related to Stormorken Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.81 CASQ1 DMD F2 NBEAL2 ORAI1 RASGRP2
2 homeostasis/metabolism MP:0005376 9.65 CASQ1 DMD DYSF F2 NBEAL2 ORAI1
3 immune system MP:0005387 9.28 DMD DYSF F2 NBEAL2 ORAI1 RASGRP2
Sources

Drugs & Therapeutics for Stormorken Syndrome

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Search Clinical Trials , NIH Clinical Center for Stormorken Syndrome

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: miosis

Sources

Genetic Tests for Stormorken Syndrome

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Genetic tests related to Stormorken Syndrome:

# Genetic test Affiliating Genes
1 Stormorken Syndrome 30 STIM1
Sources

Anatomical Context for Stormorken Syndrome

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MalaCards organs/tissues related to Stormorken Syndrome:

42
Eye, Skin, Spleen, Pituitary
Sources

Publications for Stormorken Syndrome

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Articles related to Stormorken Syndrome:

(show all 15)
# Title Authors Year
1
Stormorken Syndrome: A Rare Cause of Myopathy With Tubular Aggregates and Dystrophic Features. ( 30761937 )
2019
2
Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome. ( 30243034 )
2018
3
Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome. ( 29356264 )
2018
4
Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature. ( 30374325 )
2018
5
Stormorken syndrome or York platelet syndrome: A clinician's dilemma. ( 28649531 )
2015
6
York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. ( 25577287 )
2015
7
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations. ( 24570283 )
2014
8
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. ( 24591628 )
2014
9
A dominant STIM1 mutation causes Stormorken syndrome. ( 24619930 )
2014
10
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome. ( 25044882 )
2014
11
Giant electron-dense chains, clusters and granules in megakaryocytes and platelets with normal dense bodies: an inherited thrombocytopenic disorder I. Megakaryocytes. ( 12623447 )
2003
12
Giant electron-dense chains, clusters and granules in megakaryocytes and platelets with normal dense bodies: an inherited thrombocytopenic disorder. ( 12745453 )
2003
13
Giant electron dense chains, clusters and granules in megakaryocytes and platelets with normal dense bodies: an inherited thrombocytopenic disorder III. Platelet analytical electron microscopy. ( 12944247 )
2003
14
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. ( 12944248 )
2003
15
A new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis. ( 4085141 )
1985
Sources

Variations for Stormorken Syndrome

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

76
# 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 (show top 50) (show all 140)
# 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.910C> T (p.Arg304Trp) single nucleotide variant Pathogenic rs483352867 GRCh37 Chromosome 11, 4095850: 4095850
3 STIM1 NM_003156.3(STIM1): c.343A> T (p.Ile115Phe) single nucleotide variant Pathogenic rs527236030 GRCh38 Chromosome 11, 4023945: 4023945
4 STIM1 NM_003156.3(STIM1): c.343A> T (p.Ile115Phe) single nucleotide variant Pathogenic rs527236030 GRCh37 Chromosome 11, 4045175: 4045175
5 STIM1 NM_003156.3(STIM1): c.1571C> T (p.Ser524Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs141215990 GRCh37 Chromosome 11, 4112541: 4112541
6 STIM1 NM_003156.3(STIM1): c.1571C> T (p.Ser524Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs141215990 GRCh38 Chromosome 11, 4091311: 4091311
7 STIM1 NM_003156.3(STIM1): c.114C> G (p.Ala38=) single nucleotide variant Likely benign rs150033189 GRCh38 Chromosome 11, 3856384: 3856384
8 STIM1 NM_003156.3(STIM1): c.114C> G (p.Ala38=) single nucleotide variant Likely benign rs150033189 GRCh37 Chromosome 11, 3877614: 3877614
9 STIM1 NM_003156.3(STIM1): c.1138-9T> C single nucleotide variant Benign rs58461583 GRCh38 Chromosome 11, 4082873: 4082873
10 STIM1 NM_003156.3(STIM1): c.1138-9T> C single nucleotide variant Benign rs58461583 GRCh37 Chromosome 11, 4104103: 4104103
11 STIM1 NM_003156.3(STIM1): c.1302G> A (p.Glu434=) single nucleotide variant Benign rs116837894 GRCh38 Chromosome 11, 4083326: 4083326
12 STIM1 NM_003156.3(STIM1): c.1302G> A (p.Glu434=) single nucleotide variant Benign rs116837894 GRCh37 Chromosome 11, 4104556: 4104556
13 STIM1 NM_003156.3(STIM1): c.1518A> G (p.Pro506=) single nucleotide variant Benign/Likely benign rs199512211 GRCh37 Chromosome 11, 4107750: 4107750
14 STIM1 NM_003156.3(STIM1): c.1518A> G (p.Pro506=) single nucleotide variant Benign/Likely benign rs199512211 GRCh38 Chromosome 11, 4086520: 4086520
15 STIM1 NM_003156.3(STIM1): c.1612C> T (p.Pro538Ser) single nucleotide variant Benign rs35960304 GRCh38 Chromosome 11, 4091352: 4091352
16 STIM1 NM_003156.3(STIM1): c.1612C> T (p.Pro538Ser) single nucleotide variant Benign rs35960304 GRCh37 Chromosome 11, 4112582: 4112582
17 STIM1 NM_003156.3(STIM1): c.1803C> G (p.Pro601=) single nucleotide variant Benign rs61743670 GRCh37 Chromosome 11, 4112773: 4112773
18 STIM1 NM_003156.3(STIM1): c.1803C> G (p.Pro601=) single nucleotide variant Benign rs61743670 GRCh38 Chromosome 11, 4091543: 4091543
19 STIM1 NM_003156.3(STIM1): c.1928G> A (p.Arg643His) single nucleotide variant Conflicting interpretations of pathogenicity rs140080199 GRCh38 Chromosome 11, 4091668: 4091668
20 STIM1 NM_003156.3(STIM1): c.1928G> A (p.Arg643His) single nucleotide variant Conflicting interpretations of pathogenicity rs140080199 GRCh37 Chromosome 11, 4112898: 4112898
21 STIM1 NM_003156.3(STIM1): c.1672C> T (p.Arg558Trp) single nucleotide variant Uncertain significance rs747547917 GRCh37 Chromosome 11, 4112642: 4112642
22 STIM1 NM_003156.3(STIM1): c.1672C> T (p.Arg558Trp) single nucleotide variant Uncertain significance rs747547917 GRCh38 Chromosome 11, 4091412: 4091412
23 STIM1 NM_003156.3(STIM1): c.57G> C (p.Gln19His) single nucleotide variant Uncertain significance rs1554949765 GRCh37 Chromosome 11, 3877557: 3877557
24 STIM1 NM_003156.3(STIM1): c.57G> C (p.Gln19His) single nucleotide variant Uncertain significance rs1554949765 GRCh38 Chromosome 11, 3856327: 3856327
25 STIM1 NM_003156.3(STIM1): c.488C> A (p.Ala163Asp) single nucleotide variant Uncertain significance rs199893056 GRCh37 Chromosome 11, 4076858: 4076858
26 STIM1 NM_003156.3(STIM1): c.488C> A (p.Ala163Asp) single nucleotide variant Uncertain significance rs199893056 GRCh38 Chromosome 11, 4055628: 4055628
27 STIM1 NM_003156.3(STIM1): c.597C> A (p.Leu199=) single nucleotide variant Benign/Likely benign rs189905382 GRCh37 Chromosome 11, 4080610: 4080610
28 STIM1 NM_003156.3(STIM1): c.597C> A (p.Leu199=) single nucleotide variant Benign/Likely benign rs189905382 GRCh38 Chromosome 11, 4059380: 4059380
29 STIM1 NM_003156.3(STIM1): c.1238+9C> T single nucleotide variant Likely benign rs375604403 GRCh37 Chromosome 11, 4104221: 4104221
30 STIM1 NM_003156.3(STIM1): c.1238+9C> T single nucleotide variant Likely benign rs375604403 GRCh38 Chromosome 11, 4082991: 4082991
31 STIM1 NM_003156.3(STIM1): c.1425C> T (p.Asp475=) single nucleotide variant Likely benign rs200776986 GRCh37 Chromosome 11, 4104679: 4104679
32 STIM1 NM_003156.3(STIM1): c.1425C> T (p.Asp475=) single nucleotide variant Likely benign rs200776986 GRCh38 Chromosome 11, 4083449: 4083449
33 STIM1 NM_003156.3(STIM1): c.1541+287G> A single nucleotide variant Benign rs562406813 GRCh37 Chromosome 11, 4108060: 4108060
34 STIM1 NM_003156.3(STIM1): c.1541+287G> A single nucleotide variant Benign rs562406813 GRCh38 Chromosome 11, 4086830: 4086830
35 STIM1 NM_003156.3(STIM1): c.1712A> G (p.Lys571Arg) single nucleotide variant Uncertain significance rs1554972161 GRCh37 Chromosome 11, 4112682: 4112682
36 STIM1 NM_003156.3(STIM1): c.1712A> G (p.Lys571Arg) single nucleotide variant Uncertain significance rs1554972161 GRCh38 Chromosome 11, 4091452: 4091452
37 STIM1 NM_003156.3(STIM1): c.2049T> A (p.Leu683=) single nucleotide variant Likely benign rs199935070 GRCh37 Chromosome 11, 4113019: 4113019
38 STIM1 NM_003156.3(STIM1): c.2049T> A (p.Leu683=) single nucleotide variant Likely benign rs199935070 GRCh38 Chromosome 11, 4091789: 4091789
39 STIM1 NM_003156.3(STIM1): c.234T> C (p.Asp78=) single nucleotide variant Benign rs146126071 GRCh38 Chromosome 11, 3967646: 3967646
40 STIM1 NM_003156.3(STIM1): c.234T> C (p.Asp78=) single nucleotide variant Benign rs146126071 GRCh37 Chromosome 11, 3988876: 3988876
41 STIM1 NM_003156.3(STIM1): c.861C> T (p.Arg287=) single nucleotide variant Benign rs16929446 GRCh38 Chromosome 11, 4074571: 4074571
42 STIM1 NM_003156.3(STIM1): c.861C> T (p.Arg287=) single nucleotide variant Benign rs16929446 GRCh37 Chromosome 11, 4095801: 4095801
43 STIM1 NM_003156.3(STIM1): c.1185C> T (p.His395=) single nucleotide variant Likely benign rs1027836784 GRCh38 Chromosome 11, 4082929: 4082929
44 STIM1 NM_003156.3(STIM1): c.1185C> T (p.His395=) single nucleotide variant Likely benign rs1027836784 GRCh37 Chromosome 11, 4104159: 4104159
45 STIM1 NM_003156.3(STIM1): c.1299C> T (p.Ile433=) single nucleotide variant Likely benign rs200738706 GRCh38 Chromosome 11, 4083323: 4083323
46 STIM1 NM_003156.3(STIM1): c.1299C> T (p.Ile433=) single nucleotide variant Likely benign rs200738706 GRCh37 Chromosome 11, 4104553: 4104553
47 STIM1 NM_003156.3(STIM1): c.1511C> T (p.Thr504Met) single nucleotide variant Benign rs146873551 GRCh38 Chromosome 11, 4086513: 4086513
48 STIM1 NM_003156.3(STIM1): c.1511C> T (p.Thr504Met) single nucleotide variant Benign rs146873551 GRCh37 Chromosome 11, 4107743: 4107743
49 STIM1 NM_003156.3(STIM1): c.1763A> G (p.His588Arg) single nucleotide variant Uncertain significance rs1176059435 GRCh38 Chromosome 11, 4091503: 4091503
50 STIM1 NM_003156.3(STIM1): c.1763A> G (p.His588Arg) single nucleotide variant Uncertain significance rs1176059435 GRCh37 Chromosome 11, 4112733: 4112733
Sources

Expression for Stormorken Syndrome

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

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Pathways related to Stormorken Syndrome according to KEGG:

38
# 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
Response to elevated platelet cytosolic Ca2+ 67
Show member pathways
 12.58 F2 MIR4687 ORAI1 PRKACG RASGRP2 SELP
2
Cardiac conduction 67
Show member pathways
 12.38 DMD DYSF MIR4687 ORAI1 STIM1
3
Platelet homeostasis 67
Show member pathways
 11.89 MIR4687 ORAI1 STIM1
4
Calcium signaling pathway 38
Show member pathways
 11.74 ORAI1 PRKACG STIM1 STIM2
5
TCR signaling in naive CD4+ T cells 1
Show member pathways
 11.58 ORAI1 RASGRP2 STIM1
6
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers 67
Show member pathways
 11.52 MIR4687 ORAI1 STIM1
7
Platelet activation 38
11.02 ORAI1 PRKACG RASGRP2 STIM1
8
Rap1 signalling 67
10.61 PRKACG RASGRP2
Sources

GO Terms for Stormorken Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 sarcoplasmic reticulum membrane GO:0033017 8.96 CASQ1 STIM1
2 sarcolemma GO:0042383 8.8 CASQ1 DMD DYSF

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.61 ORAI1 STIM1 STIM2
2 calcium ion transmembrane transport GO:0070588 9.58 ORAI1 STIM1 STIM2
3 regulation of cardiac conduction GO:1903779 9.54 CASQ1 STIM1
4 positive regulation of release of sequestered calcium ion into cytosol GO:0051281 9.52 CASQ1 F2
5 regulation of calcium ion transport GO:0051924 9.51 ORAI1 STIM1
6 positive regulation of calcium ion transport GO:0051928 9.49 ORAI1 STIM2
7 skeletal muscle tissue regeneration GO:0043403 9.48 DMD DYSF
8 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.46 CASQ1 DMD
9 muscle fiber development GO:0048747 9.37 DMD DYSF
10 regulation of store-operated calcium entry GO:2001256 9.32 CASQ1 STIM1
11 response to denervation involved in regulation of muscle adaptation GO:0014894 9.26 CASQ1 DMD
12 activation of store-operated calcium channel activity GO:0032237 9.16 STIM1 STIM2
13 regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion GO:0014809 8.96 CASQ1 DMD
14 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 metal ion binding GO:0046872 9.92 CASQ1 COX5A DMD DYSF RASGRP2 SELP
2 calcium ion binding GO:0005509 9.5 CASQ1 DYSF F2 RASGRP2 SELP STIM1
3 calcium channel regulator activity GO:0005246 9.26 STIM1 STIM2
4 lipopolysaccharide binding GO:0001530 9.16 F2 SELP
5 store-operated calcium channel activity GO:0015279 8.8 ORAI1 STIM1 STIM2
Sources

Sources for Stormorken Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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