Stormorken-sjaastad-langslet Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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.

Genes related to Stormorken-sjaastad-langslet Syndrome

ORAI1
STIM1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Stormorken-sjaastad-langslet Syndrome

Short stature
Muscle weakness
Anemia
Fatigue
Myopathy
Headache
Dilatation
Thrombocytopenia
Elevated serum creatine phosphokinase
Severe short stature

And another 31 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Stormorken-sjaastad-langslet Syndrome Is also known as thrombocytopathy-asplenia-miosis syndrome, york platelet syndrome, thrombocytopathy, asplenia, and miosis, yps, stormorken syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Stormorken-sjaastad-langslet Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). RMRP, STAT5B, STIM1, TBX1, FOXN1, ZAP70, CD3D, CD3E, DCLRE1C, ADA, NHEJ1, ORAI1, IL2RG, IL7R, JAK3, LIG4, PNP, PTPRC, RAG1, RAG2 Specificity 10 % Genes 100 %
ORAI1 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). ORAI1 Specificity 100 % Genes 50 %
Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). RMRP, STAT5B, STIM1, TBX1, FOXN1, ZAP70, CD3D, CD3E, ADA, NHEJ1, ORAI1, IL2RG, IL7R, JAK3, LIG4, PNP, PTPRC, RAG1, RAG2 Specificity 11 % Genes 100 %
ORAI1 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). ORAI1 Specificity 100 % Genes 50 %
Neuromuscular Disorders Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1 , (...) View the complete list with 91 more genes Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1, CCDC78, CAPN3, DNAJB6, CAV3, B4GAT1, LDB3, SELENON, LIMS2, TRIM32, SPEG, KLHL41, SYNE2, SYNE1, TNPO3, FKRP, FKBP14, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, POMT2, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, ALG2, GNE, CRYAB, CHST14, SIL1, TRAPPC11, ORAI1, POMK, DOK7, DAG1, ANO5, DES, ALG14, STAC3, TMEM43, B3GALNT2, DMD, MEGF10, DNM2, DPAGT1, DPM1, DPM2, DPM3, PREPL, KLHL40, DYSF, AGRN, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GBE1, GFPT1, HNRNPDL, HRAS, ITGA7, LAMA2, LAMB2, LAMP2, LARGE1, LMNA, LMOD3, LRP4, MTM1, MUSK, MYF6, MYH2, MYH7, MYL2, NEB, PLEC, BAG3, HACD1, PYGM, RAPSN Specificity 2 % Genes 100 %
Myopathy with Tubular Aggregates Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). STIM1, ORAI1 Specificity 100 % Genes 100 %
ORAI1. By Institute for Human Genetics University Clinic Freiburg (Germany). ORAI1 Specificity 100 % Genes 50 %
Muscle Weakness (Myopathy, Muscular Dystrophy). By MGZ Medical Genetics Center (Germany). RYR1, BIN1, SCN4A, SCO2, SDHA, SGCA, SGCB, SGCD, SGCG, SLC22A5, SLC25A3, SLC25A4, SLC6A5, SNAP25, STIM1, TAZ, TWNK, TCAP, TIA1, TK2 , (...) View the complete list with 159 more genes Panel complete gene list RYR1, BIN1, SCN4A, SCO2, SDHA, SGCA, SGCB, SGCD, SGCG, SLC22A5, SLC25A3, SLC25A4, SLC6A5, SNAP25, STIM1, TAZ, TWNK, TCAP, TIA1, TK2, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, TTR, UBA1, VCP, ACTA1, LPIN1, RXYLT1, GFM1, CACNA1S, CCDC78, SLC25A20, CAPN3, DNAJB6, CAV3, MICU1, PUS1, B4GAT1, LDB3, GDAP1, SELENON, LIMS2, SLC52A3, TRIM32, MFN2, SYNE2, SYNE1, TNPO3, BICD2, RRM2B, FKRP, TRPV4, FKBP14, CFL2, CHAT, POMGNT1, MTO1, KIF21A, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, POMT2, AARS, CLCN1, TUBB3, ABHD5, ACAD9, CNTN1, AGK, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, COX15, GMPPB, ALG2, MYH14, CPT1A, CPT2, GNE, CRYAB, SIL1, CUL4B, LAS1L, TRAPPC11, ORAI1, POMGNT2, TMEM70, MTMR14, POMK, PIEZO2, DOK7, ANO5, DES, ALG14, STAC3, TMEM43, B3GALNT2, SMCHD1, DMD, TOR1AIP1, DYNC1H1, MEGF10, DNM2, ISCU, DPAGT1, DPM2, PREPL, KLHL40, FDX2, PNPLA2, DYSF, AGL, EGR2, AGRN, EMD, ETFA, ETFB, ETFDH, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GARS, GBE1, GFPT1, GLRA1, GLRB, GOSR2, AMACR, AMPD1, HADH, HADHA, HADHB, HINT1, HNRNPU, HSPG2, IGHMBP2, ITGA7, LAMA2, LAMP2, LARGE1, LMNA, LRP4, MATR3, MPZ, SEPT9, MTM1, MUSK, MYBPC1, MYF6, MYH2, MYH7, NEB, NEFL, PFKM, PGK1, ACADM, PGM1, ACADS, PLEC, PHOX2B, POLG, POLG2, ACADVL, POMT1, BAG3, CAVIN1, PYGM, RAPSN Specificity 2 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Symptoms Checker

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