Multisystemic Smooth Muscle Dysfunction Syndrome

Table of contents:

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

Description

Multisystemic smooth muscle dysfunction syndrome is a rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease.

Genes related to Multisystemic Smooth Muscle Dysfunction Syndrome

ACTA2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Multisystemic Smooth Muscle Dysfunction Syndrome

Global developmental delay
Cryptorchidism
Hypertension
Hypoplasia of the corpus callosum
Edema
Dilatation
Patent ductus arteriosus
Stroke
Abnormality of the cerebral white matter
Asthma

And another 16 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.)
— The onset for some of the known clinical features related to this disease may vary, including congenital onset .

Alternative names

Multisystemic Smooth Muscle Dysfunction Syndrome Is also known as mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy.

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.

Multisystemic Smooth Muscle Dysfunction Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Aortic Dysfunction or Dilation and Related Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SKI, TGFB2, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, ELN, FBLN5, FBN1, FBN2, SMAD3, MYH11, MYLK, NOTCH1, PLOD1 Specificity 6 % Genes 100 %
NGS Connective Tissue Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...) View the complete list with 13 more genes Panel complete gene list SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14, ELN, FBLN5, FBN1, FBN2, ABCC6, SMAD3, MYH11, MYLK, NOTCH1, ATP7A, PKD2, PLOD1, PRDM5 Specificity 4 % Genes 100 %
Familial Aortic Aneurysms. By Center for Human Genetics, Inc (United States). TGFB2, TGFBR1, TGFBR2, ACTA2, SMAD3, MYH11, MYLK, PRKG1 Specificity 13 % Genes 100 %
Connective Tissue Disorders 22-gene panel. By Center for Human Genetics, Inc (United States). TGFB2, TGFBR1, TGFBR2, TGFBR3, ACTA2, NTM, COL11A1, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, SMAD3, MYH11, MYLK, NOTCH1, PRKG1 Specificity 5 % Genes 100 %
Thoracic aortic aneurysms and aortic dissection - full panel. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada). TGFB2, TGFBR1, TGFBR2, ACTA2, SLC2A10, COL3A1, FBN1, SMAD3, MYH11, MYLK, NOTCH1 Specificity 10 % Genes 100 %
Thoracic aortic aneurysms and aortic dissection - familial variant analysis. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada). TGFB2, TGFBR1, TGFBR2, ACTA2, SLC2A10, COL3A1, FBN1, SMAD3, MYH11, MYLK, NOTCH1 Specificity 10 % Genes 100 %
Familial Aneurysm Panel. By Collagen Diagnostic Laboratory University of Washington (United States). BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, MFAP5, FBN1, FBN2, FOXE3, LOX, SMAD2, SMAD3, SMAD4, MAT2A, MYH11 , (...) View the complete list with 3 more genes Panel complete gene list BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, MFAP5, FBN1, FBN2, FOXE3, LOX, SMAD2, SMAD3, SMAD4, MAT2A, MYH11, MYLK, PLOD3, PRKG1 Specificity 5 % Genes 100 %
Cardiomyopathy Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RYR2, SCN1B, SCN4B, SCN5A, SCO2, SGCD, SKI, BRAF, SNTA1, SOS1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3 , (...) View the complete list with 92 more genes Panel complete gene list RYR2, SCN1B, SCN4B, SCN5A, SCO2, SGCD, SKI, BRAF, SNTA1, SOS1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3, TNNT2, MED12, TPM1, TTN, TTR, VCL, ACTA2, MYOZ2, SLC2A10, CACNA1C, CACNB2, JPH2, ACTC1, CAV3, CBL, SHOC2, CBS, LDB3, OBSCN, ANKRD1, MYLK2, ACTN2, HCN4, NEBL, TRPM4, TXNRD2, SPRED1, SCN3B, PDLIM3, COL3A1, COL5A1, COL5A2, COX15, MYPN, CRYAB, CSRP3, CTF1, RBM20, DES, TMEM43, GPD1L, DMD, NEXN, GATAD1, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FBN1, FBN2, FKTN, FLNA, AKAP9, FXN, GAA, GLA, ANK2, HRAS, ABCC9, ILK, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KRAS, LAMA4, LAMP2, LMNA, SMAD3, MAP2K1, MAP2K2, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, NOTCH1, NRAS, PKP2, PLN, PLOD1, PRKAG2, BAG3, PTPN11, RAF1 Specificity 1 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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