Epidermolysis Bullosa Simplex With Mottled Pigmentation; Ebsmp

Clinical Features

Top most frequent phenotypes and symptoms related to Epidermolysis Bullosa Simplex With Mottled Pigmentation; Ebsmp

  • Nail dystrophy
  • Bruising susceptibility
  • Hypopigmentation of the skin
  • Nail dysplasia
  • Abnormal blistering of the skin
  • Fragile skin
  • Thick nail
  • Mottled pigmentation
  • Mottled pigmentation of the trunk and proximal extremities
  • Discrete 2 to 5-mm hyper- and hypopigmented macules

And another 1 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

Epidermolysis Bullosa Simplex With Mottled Pigmentation; Ebsmp Is also known as speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering.

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.


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Epidermolysis Bullosa Simplex With Mottled Pigmentation; Ebsmp Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
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 %
KRT5 Gene Sequencing.

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

KRT5
Specificity
100 %
Genes
100 %
KRT5 Deletion/duplication analysis.

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

KRT5
Specificity
100 %
Genes
100 %
EB (Epidermolysis Bullosa) Deletion/Duplication 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, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC
Specificity
5 %
Genes
100 %
KRT5.

By Institute for Human Genetics University Clinic Freiburg (Germany).

KRT5
Specificity
100 %
Genes
100 %
KRT5. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KRT5
Specificity
100 %
Genes
100 %
KRT5. Sequencing of the exons 1, 5 and 7.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KRT5
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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