Epidermolysis Bullosa Simplex With Muscular Dystrophy

Description

Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.

Clinical Features

Top most frequent phenotypes and symptoms related to Epidermolysis Bullosa Simplex With Muscular Dystrophy

  • Short stature
  • Growth delay
  • Muscle weakness
  • Ptosis
  • Anemia
  • Fatigue
  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Alopecia

And another 45 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 neonatal onset .

Alternative names

Epidermolysis Bullosa Simplex With Muscular Dystrophy Is also known as epidermolysis bullosa simplex and limb-girdle muscular dystrophy, md-ebs, ebs-md, mdebs, limb-girdle muscular dystrophy with epidermolysis bullosa simplex.

Researches and researchers

Doctors, researchs, and experts related to Epidermolysis Bullosa Simplex With Muscular Dystrophy extracted from public data.

Epidermolysis Bullosa Simplex With Muscular Dystrophy Experts map



Current Researchs and researchers

  • WIEN — Pr Gerhard WICHE

    Investigator of research project - Director of department

    • Institution/s:
      — Max F. Perutz Laboratories (MFPL) / Center for Molecular Biology of the University of Vienna, Vienna Biocenter
    • Research area/topic::

      Knockout mice and cell models for muscular plectinopathies



Mendelian

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Epidermolysis Bullosa Simplex With Muscular Dystrophy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Limb Girdle Muscular Dystrophy Advanced Evaluation.

By Athena Diagnostics Inc (United States).

SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CAPN3, DNAJB6, CAV3, TRIM32, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5, DES, DYSF, FKTN , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Muscular Dystrophy Advanced Evaluation.

By Athena Diagnostics Inc (United States).

SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CCDC78, CAPN3, DNAJB6, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Comprehensive Neuromuscular Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR1, RYR2, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, VRK1, ACTA1, CAPN3 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Limb-Girdle Muscular Dystrophy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, VCP, CAPN3, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, COL6A1, COL6A2, COL6A3, GNE , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
EBSeq Epidermolysis Bullosa Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
PLEC1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

PLEC
Specificity
100 %
Genes
100 %
PLEC1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

PLEC
Specificity
100 %
Genes
100 %

We have 81 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Genetic Syndrome Finder

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