MCID: STR081
MIFTS: 48

Stormorken Syndrome

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Stormorken Syndrome

MalaCards integrated aliases for Stormorken Syndrome:

Name: Stormorken Syndrome 57 12 53 25 59 75 29 6 44 15 40 73
Thrombocytopathy, Asplenia, and Miosis 57 25 75
Stormorken-Sjaastad-Langslet Syndrome 53 25 59
York Platelet Syndrome 57 75
Strmk 57 75
Yps 57 75
Thrombocytopathy-Asplenia-Miosis Syndrome 59
Thrombocytopathy, Asplenia and Miosis 12
Thrombocytopathy Asplenia Miosis 53
York Platelet Syndrome; Yps 57
Miosis Disorder 73
Miosis 44

Characteristics:

Orphanet epidemiological data:

59
stormorken-sjaastad-langslet syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
stormorken syndrome:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Stormorken Syndrome

Genetics Home Reference : 25 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 mydriasis, tonic pupil and headache. 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 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)

UniProtKB/Swiss-Prot : 75 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 : 53 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.

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 28.6 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 10.6 DMD DYSF
11 muscular dystrophy, limb-girdle, type 2c 10.6 DMD DYSF
12 muscular dystrophy, limb-girdle, type 2f 10.6 DMD DYSF
13 muscular dystrophy, limb-girdle, type 2b 10.5 DMD DYSF
14 muscular dystrophy, becker type 10.5 DMD DYSF
15 distal muscular dystrophy 10.5 DMD DYSF
16 autosomal recessive limb-girdle muscular dystrophy 10.4 DMD DYSF
17 myoglobinuria, recurrent 10.3 COX5A DMD
18 anterior compartment syndrome 10.2 DYSF F2
19 ptosis 10.1
20 gonadal dysgenesis 10.0
21 myopathy, tubular aggregate, 1 10.0 ORAI1 STIM1 STIM2
22 anhidrosis 10.0
23 blood protein disease 10.0 COX5A F2
24 hepatitis 10.0
25 corpus callosum, agenesis of 9.9
26 immunodeficiency-centromeric instability-facial anomalies syndrome 1 9.8
27 melanosis, neurocutaneous 9.8
28 pancreatic cancer 9.8
29 spermatogenic failure, x-linked, 1 9.8
30 gonadoblastoma 9.8
31 azoospermia 9.8
32 mixed gonadal dysgenesis 9.8
33 melanoma 9.8
34 pancreatitis 9.8
35 infertility 9.8
36 leukocyte adhesion deficiency, type iii 9.8 RASGRP2 SELP
37 qualitative platelet defect 9.6 F2 SELP
38 retinal vascular occlusion 9.6 F2 SELP
39 gray platelet syndrome 9.5 NBEAL2 SELP
40 portal vein thrombosis 9.5 F2 SELP
41 griscelli syndrome, type 1 9.5 COX5A SELP
42 venous insufficiency 9.5 F2 SELP
43 factor v deficiency 9.5 COX5A F2 NBEAL2
44 thrombasthenia 9.4 F2 SELP
45 intermittent claudication 9.2 F2 SELP
46 blood coagulation disease 9.1 F2 SELP
47 blood platelet disease 9.0 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:

57
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
increased bleeding tendency due to platelet dysfunction
howell-jolly bodies

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

AbdomenSpleen:
asplenia
splenic aplasia
functional asplenia

Cardiovascular Vascular:
intracranial bleeding (in some patients)


Clinical features from OMIM:

185070

Human phenotypes related to Stormorken Syndrome:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
2 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
3 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064
4 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
5 deeply set eye 59 32 hallmark (90%) Very frequent (99-80%) HP:0000490
6 abnormality of the musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003011
7 purpura 59 32 hallmark (90%) Very frequent (99-80%) HP:0000979
8 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
9 abnormality of coagulation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001928
10 asplenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001746
11 miosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000616
12 myopathy 32 HP:0003198
13 elevated serum creatine phosphokinase 32 HP:0003236
14 abnormal bleeding 32 HP:0001892
15 thrombocytopenia 32 HP:0001873
16 migraine 32 HP:0002076
17 stroke-like episode 32 occasional (7.5%) HP:0002401
18 myalgia 32 HP:0003326
19 abnormality of thrombocytes 59 Very frequent (99-80%)
20 epistaxis 32 HP:0000421
21 dyslexia 32 HP:0010522
22 hypotelorism 32 HP:0000601
23 prominent nose 32 HP:0000448
24 proximal muscle weakness 32 HP:0003701
25 increased muscle fatiguability 32 HP:0003750
26 abnormal thrombocyte morphology 32 hallmark (90%) HP:0001872

UMLS symptoms related to Stormorken Syndrome:


mydriasis, tonic pupil, headache, myalgia

MGI Mouse Phenotypes related to Stormorken Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.76 SELP STIM1 STIM2 DMD F2 NBEAL2
2 homeostasis/metabolism MP:0005376 9.61 DMD DYSF F2 NBEAL2 ORAI1 RASGRP2
3 immune system MP:0005387 9.28 DMD DYSF F2 NBEAL2 ORAI1 RASGRP2

Drugs & Therapeutics for Stormorken Syndrome

Search Clinical Trials , NIH Clinical Center for Stormorken Syndrome

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: miosis

Genetic Tests for Stormorken Syndrome

Genetic tests related to Stormorken Syndrome:

# Genetic test Affiliating Genes
1 Stormorken Syndrome 29 STIM1

Anatomical Context for Stormorken Syndrome

MalaCards organs/tissues related to Stormorken Syndrome:

41
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:

75
# 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 92)
# 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 rs199512211 GRCh37 Chromosome 11, 4107750: 4107750
14 STIM1 NM_003156.3(STIM1): c.1518A> G (p.Pro506=) single nucleotide variant 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 Likely benign rs140080199 GRCh38 Chromosome 11, 4091668: 4091668
20 STIM1 NM_003156.3(STIM1): c.1928G> A (p.Arg643His) single nucleotide variant Likely benign rs140080199 GRCh37 Chromosome 11, 4112898: 4112898
21 STIM1 NM_003156.3(STIM1): c.57G> C (p.Gln19His) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 3856327: 3856327
22 STIM1 NM_003156.3(STIM1): c.57G> C (p.Gln19His) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 3877557: 3877557
23 STIM1 NM_003156.3(STIM1): c.488C> A (p.Ala163Asp) single nucleotide variant Uncertain significance rs199893056 GRCh38 Chromosome 11, 4055628: 4055628
24 STIM1 NM_003156.3(STIM1): c.488C> A (p.Ala163Asp) single nucleotide variant Uncertain significance rs199893056 GRCh37 Chromosome 11, 4076858: 4076858
25 STIM1 NM_003156.3(STIM1): c.597C> A (p.Leu199=) single nucleotide variant Benign/Likely benign rs189905382 GRCh38 Chromosome 11, 4059380: 4059380
26 STIM1 NM_003156.3(STIM1): c.597C> A (p.Leu199=) single nucleotide variant Benign/Likely benign rs189905382 GRCh37 Chromosome 11, 4080610: 4080610
27 STIM1 NM_003156.3(STIM1): c.1238+9C> T single nucleotide variant Likely benign rs375604403 GRCh37 Chromosome 11, 4104221: 4104221
28 STIM1 NM_003156.3(STIM1): c.1238+9C> T single nucleotide variant Likely benign rs375604403 GRCh38 Chromosome 11, 4082991: 4082991
29 STIM1 NM_003156.3(STIM1): c.1425C> T (p.Asp475=) single nucleotide variant Likely benign rs200776986 GRCh37 Chromosome 11, 4104679: 4104679
30 STIM1 NM_003156.3(STIM1): c.1425C> T (p.Asp475=) single nucleotide variant Likely benign rs200776986 GRCh38 Chromosome 11, 4083449: 4083449
31 STIM1 NM_003156.3(STIM1): c.1541+287G> A single nucleotide variant Benign rs562406813 GRCh38 Chromosome 11, 4086830: 4086830
32 STIM1 NM_003156.3(STIM1): c.1541+287G> A single nucleotide variant Benign rs562406813 GRCh37 Chromosome 11, 4108060: 4108060
33 STIM1 NM_003156.3(STIM1): c.1712A> G (p.Lys571Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 4091452: 4091452
34 STIM1 NM_003156.3(STIM1): c.1712A> G (p.Lys571Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 4112682: 4112682
35 STIM1 NM_003156.3(STIM1): c.2049T> A (p.Leu683=) single nucleotide variant Likely benign rs199935070 GRCh37 Chromosome 11, 4113019: 4113019
36 STIM1 NM_003156.3(STIM1): c.2049T> A (p.Leu683=) single nucleotide variant Likely benign rs199935070 GRCh38 Chromosome 11, 4091789: 4091789
37 STIM1 NM_003156.3(STIM1): c.234T> C (p.Asp78=) single nucleotide variant Benign rs146126071 GRCh38 Chromosome 11, 3967646: 3967646
38 STIM1 NM_003156.3(STIM1): c.234T> C (p.Asp78=) single nucleotide variant Benign rs146126071 GRCh37 Chromosome 11, 3988876: 3988876
39 STIM1 NM_003156.3(STIM1): c.861C> T (p.Arg287=) single nucleotide variant Benign rs16929446 GRCh38 Chromosome 11, 4074571: 4074571
40 STIM1 NM_003156.3(STIM1): c.861C> T (p.Arg287=) single nucleotide variant Benign rs16929446 GRCh37 Chromosome 11, 4095801: 4095801
41 STIM1 NM_003156.3(STIM1): c.1185C> T (p.His395=) single nucleotide variant Likely benign rs1027836784 GRCh38 Chromosome 11, 4082929: 4082929
42 STIM1 NM_003156.3(STIM1): c.1185C> T (p.His395=) single nucleotide variant Likely benign rs1027836784 GRCh37 Chromosome 11, 4104159: 4104159
43 STIM1 NM_003156.3(STIM1): c.1299C> T (p.Ile433=) single nucleotide variant Likely benign rs200738706 GRCh37 Chromosome 11, 4104553: 4104553
44 STIM1 NM_003156.3(STIM1): c.1299C> T (p.Ile433=) single nucleotide variant Likely benign rs200738706 GRCh38 Chromosome 11, 4083323: 4083323
45 STIM1 NM_003156.3(STIM1): c.1511C> T (p.Thr504Met) single nucleotide variant Benign rs146873551 GRCh38 Chromosome 11, 4086513: 4086513
46 STIM1 NM_003156.3(STIM1): c.1511C> T (p.Thr504Met) single nucleotide variant Benign rs146873551 GRCh37 Chromosome 11, 4107743: 4107743
47 STIM1 NM_003156.3(STIM1): c.1763A> G (p.His588Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 4091503: 4091503
48 STIM1 NM_003156.3(STIM1): c.1763A> G (p.His588Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 4112733: 4112733
49 STIM1 NM_003156.3(STIM1): c.1844G> A (p.Arg615His) single nucleotide variant Uncertain significance rs145197758 GRCh38 Chromosome 11, 4091584: 4091584
50 STIM1 NM_003156.3(STIM1): c.1844G> A (p.Arg615His) single nucleotide variant Uncertain significance rs145197758 GRCh37 Chromosome 11, 4112814: 4112814

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
12.58 F2 MIR4687 ORAI1 PRKACG RASGRP2 SELP
2
Show member pathways
12.38 DMD DYSF MIR4687 ORAI1 STIM1
3
Show member pathways
11.89 MIR4687 ORAI1 STIM1
4
Show member pathways
11.73 ORAI1 PRKACG STIM1 STIM2
5
Show member pathways
11.58 ORAI1 RASGRP2 STIM1
6
Show member pathways
11.52 MIR4687 ORAI1 STIM1
7 11.01 ORAI1 PRKACG RASGRP2 STIM1
8 10.61 PRKACG RASGRP2

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 transport GO:0006816 9.43 ORAI1 STIM1 STIM2
2 regulation of calcium ion transport GO:0051924 9.37 ORAI1 STIM1
3 calcium ion transmembrane transport GO:0070588 9.33 ORAI1 STIM1 STIM2
4 positive regulation of calcium ion transport GO:0051928 9.32 ORAI1 STIM2
5 activation of store-operated calcium channel activity GO:0032237 8.96 STIM1 STIM2
6 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 lipopolysaccharide binding GO:0001530 9.26 F2 SELP
2 calcium channel regulator activity GO:0005246 9.16 STIM1 STIM2
3 calcium ion binding GO:0005509 9.1 DYSF F2 RASGRP2 SELP STIM1 STIM2
4 store-operated calcium channel activity GO:0015279 8.96 ORAI1 STIM2

Sources for Stormorken Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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