MCID: STR081
MIFTS: 47

Stormorken Syndrome

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Stormorken Syndrome

MalaCards integrated aliases for Stormorken Syndrome:

Name: Stormorken Syndrome 54 12 50 25 56 71 29 42 14 69
Stormorken-Sjaastad-Langslet Syndrome 50 25 56
Thrombocytopathy, Asplenia, and Miosis 25 71
Thrombocytopathy-Asplenia-Miosis Syndrome 56
Thrombocytopathy, Asplenia and Miosis 12
Thrombocytopathy Asplenia Miosis 50
York Platelet Syndrome 71
Miosis Disorder 69
Miosis 42
Strmk 71
Yps 71

Characteristics:

Orphanet epidemiological data:

56
stormorken-sjaastad-langslet syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
stormorken syndrome:
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 stormorken-sjaastad-langslet syndrome, is related to isochromosome yp and microcoria, congenital, and has symptoms including short stature, high forehead and anemia. An important gene associated with Stormorken Syndrome is STIM1 (Stromal Interaction Molecule 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Cardiac conduction. Affiliated tissues include eye, skin and spleen, and related phenotypes are hematopoietic system and homeostasis/metabolism

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 3204disease definitionstormorken-sjaastad-langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. it has been described in six members of one family. it is transmitted as an autosomal dominanttrait.visit the orphanet disease page for more resources. last updated: 8/22/2007

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

OMIM : 54
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)

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 top 50) (show all 52)
id Related Disease Score Top Affiliating Genes
1 isochromosome yp 12.0
2 microcoria, congenital 11.5
3 horner's syndrome 10.9
4 megalocornea 1, x-linked 10.9
5 spastic ataxia 7, autosomal dominant 10.8
6 hemicrania continua 10.7
7 isolated congenital megalocornea 10.7
8 horner syndrome, congenital 10.7
9 lopes gorlin syndrome 10.6 DMD DYSF
10 pulmonary hypertension, primary, 2 10.6 DMD DYSF
11 scn1b-related generalized epilepsy with febrile seizures plus 10.6 DMD DYSF
12 lyme disease 10.5 DMD DYSF
13 autosomal recessive limb-girdle muscular dystrophy type 2e 10.4 DMD DYSF
14 craniofrontonasal dysplasia 10.4 DMD DYSF
15 myosin storage myopathy 10.4 COX5A DMD
16 adrenal carcinoma 10.4 DYSF F2
17 muscular dystrophy, rigid spine, 1 10.4 DMD DYSF
18 ullrich congenital muscular dystrophy 1 10.3 DMD DYSF
19 cryptosporidiosis 10.0 F2 SELP
20 dysgammaglobulinemia 10.0 F2 SELP
21 osteogenesis imperfecta, type vii 10.0 NBEAL2 SELP
22 ptosis 10.0
23 thrombomodulin anomalies, familial 10.0 F2 SELP
24 griscelli syndrome, type 2 10.0 COX5A SELP
25 gonadal dysgenesis 10.0
26 psychosexual disorder 10.0 F2 SELP
27 anhidrosis 9.9
28 clear cell sarcoma 9.9 DMD DYSF ORAI1 STIM1
29 ischemic heart disease 9.9 F2 SELP
30 myopathy 9.8
31 hepatitis 9.8
32 microcephalic osteodysplastic primordial dwarfism, type ii 9.7 RASGRP2 SELP
33 sertoli cell-only syndrome 9.7
34 mixed gonadal dysgenesis 9.7
35 melanoma 9.7
36 pancreatic cancer 9.7
37 pancreatitis 9.7
38 gonadoblastoma 9.7
39 infertility 9.7
40 atrophic nonflaccid tympanic membrane 9.7 F2 SELP
41 esotropia 9.7
42 oculomotor nerve paralysis 9.7
43 aneurysm 9.7
44 accommodative spasm 9.7
45 coloboma 9.7
46 pituitary adenoma 9.7
47 aortic aneurysm 9.7
48 adenoma 9.7
49 scotoma 9.7
50 immunodeficiency 21 9.6 F2 NBEAL2

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:

54

Growth- Height:
short stature

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

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

Head And Neck- Nose:
prominent nose
epistaxis

Abdomen- Spleen:
asplenia
functional asplenia
splenic aplasia

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

Laboratory- Abnormalities:
increased serum creatine kinase
decreased serum calcium

Head And Neck- Eyes:
deep-set eyes
hypotelorism
miosis

Skin Nails & Hair- Skin:
ichthyosis

Cardiovascular- Vascular:
intracranial bleeding (in some patients)


Clinical features from OMIM:

185070

Human phenotypes related to Stormorken Syndrome:

56 32 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 high forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0000348
3 anemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001903
4 ichthyosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0008064
5 purpura 56 32 hallmark (90%) Very frequent (99-80%) HP:0000979
6 asplenia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001746
7 miosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000616
8 neurological speech impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0002167
9 deeply set eye 56 32 hallmark (90%) Very frequent (99-80%) HP:0000490
10 abnormality of the musculature 56 32 hallmark (90%) Very frequent (99-80%) HP:0003011
11 abnormality of thrombocytes 56 32 hallmark (90%) Very frequent (99-80%) HP:0001872
12 abnormality of coagulation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001928
13 migraine 32 HP:0002076
14 thrombocytopenia 32 HP:0001873
15 myopathy 32 HP:0003198
16 myalgia 32 HP:0003326
17 prominent nose 32 HP:0000448
18 epistaxis 32 HP:0000421
19 hypotelorism 32 HP:0000601
20 proximal muscle weakness 32 HP:0003701
21 dyslexia 32 HP:0010522
22 elevated serum creatine phosphokinase 32 HP:0003236
23 increased muscle fatiguability 32 HP:0003750
24 stroke-like episode 32 occasional (7.5%) HP:0002401

UMLS symptoms related to Stormorken Syndrome:


mydriasis, tonic pupil, headache, myalgia

MGI Mouse Phenotypes related to Stormorken Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.86 DMD F2 NBEAL2 ORAI1 RASGRP2 SELP
2 homeostasis/metabolism MP:0005376 9.81 STIM2 DMD DYSF F2 NBEAL2 ORAI1
3 immune system MP:0005387 9.61 DMD DYSF F2 NBEAL2 ORAI1 RASGRP2
4 nervous system MP:0003631 9.17 DMD F2 NBEAL2 ORAI1 SELP STIM1

Drugs & Therapeutics for Stormorken Syndrome

Search Clinical Trials , NIH Clinical Center for Stormorken Syndrome

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: miosis

Genetic Tests for Stormorken Syndrome

Genetic tests related to Stormorken Syndrome:

id Genetic test Affiliating Genes
1 Stormorken Syndrome 29

Anatomical Context for Stormorken Syndrome

MalaCards organs/tissues related to Stormorken Syndrome:

39
Eye, Skin, Spleen

Publications for Stormorken Syndrome

Articles related to Stormorken Syndrome:

id Title Authors Year
1
Stormorken syndrome or York platelet syndrome: A clinician's dilemma. ( 28649531 )
2015
2
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome. ( 25044882 )
2014
3
A dominant STIM1 mutation causes Stormorken syndrome. ( 24619930 )
2014

Variations for Stormorken Syndrome

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

71
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 STIM1 NM_003156.3(STIM1): c.910C> T (p.Arg304Trp) single nucleotide variant Pathogenic rs483352867 GRCh38 Chromosome 11, 4074620: 4074620
2 STIM1 NM_003156.3(STIM1): c.343A> T (p.Ile115Phe) single nucleotide variant Pathogenic rs527236030 GRCh38 Chromosome 11, 4023945: 4023945

Expression for Stormorken Syndrome

Search GEO for disease gene expression data for Stormorken Syndrome.

Pathways for Stormorken Syndrome

GO Terms for Stormorken Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.23 DMD DYSF F2 NBEAL2 RASGRP2 SELP

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

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

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

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.35 DYSF F2 RASGRP2 STIM1 STIM2
2 lipopolysaccharide binding GO:0001530 9.26 F2 SELP
3 calcium channel regulator activity GO:0005246 9.16 STIM1 STIM2
4 store-operated calcium channel activity GO:0015279 8.8 ORAI1 STIM1 STIM2

Sources for Stormorken Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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