Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandBlood Platelet Disorders (D001791)
Parent Node:
expandDyslexia (D004410)
Parent Node:
expandIchthyosis (D007057)
Parent Node:
expandMigraine Disorders (D008881)
Parent Node:
expandMiosis (D015877)
..Starting node
..expandStormorken Syndrome (C566108)

       Child Nodes:



 Sister Nodes: 
..expandAtaxia, Spastic, with Congenital Miosis (C566247)
..expandHorner Syndrome (D006732) Child1
..expandOphthalmoplegia Totalis with Ptosis and Miosis (C564927)
..expandStormorken Syndrome (C566108)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10693
Name:Stormorken Syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D001791|MESH:D004410|MESH:D007057|MESH:D008881|MESH:D015877
TreeNumbers:C10.228.140.546.399.750/C566108 |C10.597.606.150.500.300/C566108 |C10.597.606.150.550.200/C566108 |C10.597.690.362/C566108 |C11.710.528/C566108 |C15.378.140/C566108 |C16.131.831.512/C566108 |C16.614.492/C566108 |C17.800.428.333/C566108 |C17.800.804.512/C566108 |C2
Synonyms:Thrombocytopathy, Asplenia, and Miosis
Slim Mappings:Blood disease|Congenital abnormality|Eye disease|Infant-newborn disease|Mental disorder|Nervous system disease|Signs and symptoms|Skin disease
Reference: MedGen: C566108
MeSH: C566108
OMIM: 185070;

Genes: STIM1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001892Abnormal bleeding
3 HP:0001903Anemia
4 HP:0001746Asplenia
5 HP:0000490Deeply set eye
6 HP:0010522Dyslexia
7 HP:0003236Elevated circulating creatine kinase concentration
8 HP:0000421Epistaxis
9 HP:0000601Hypotelorism
10 HP:0008064Ichthyosis
11 HP:0003750Increased muscle fatiguability
12 HP:0002076Migraine
13 HP:0000616Miosis
14 HP:0003326Myalgia
15 HP:0003198Myopathy
16 HP:0003676Progressive
17 HP:0000448Prominent nose
18 HP:0003701Proximal muscle weakness
19 HP:0004322Short stature
20 HP:0002401Stroke-like episodeHP:0040283
21 HP:0001873Thrombocytopenia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_003156.3(STIM1):c.343A>T (p.Ile115Phe)6786STIM1Pathogenic527236030RCV000144069; RCV000132725; RCV000169763; NMedGen:C0410207,OMIM:160565,ORPHA:2593,SNOMED CT:240087000; MedGen:C1861451,OMIM:185070,ORPHA:3204; MedGen:CN2218091140451754045175NM_003156.3:c.343A>TNP_003147.2:p.Ile115PheNC_000011.9:g.4045175A>TOMIM Allelic Variant:605921.0009C0410207 160565 Myopathy with tubular aggregates; CN221809 not provided; C1861451 185070 Stormorken syndrome
NM_003156.3(STIM1):c.910C>T (p.Arg304Trp)6786STIM1Pathogenic483352867RCV000128580; NMedGen:C1861451,OMIM:185070,ORPHA:32041140958504095850NM_003156.3:c.910C>TNP_003147.2:p.Arg304TrpNC_000011.9:g.4095850C>TOMIM Allelic Variant:605921.0008C1861451 185070 Stormorken syndrome