Hereditary Acrokeratotic Poikiloderma, Weary Type

Clinical Features

Top most frequent phenotypes and symptoms related to Hereditary Acrokeratotic Poikiloderma, Weary Type

  • Short stature
  • Hearing impairment
  • Abnormality of the skeletal system
  • Abnormality of the dentition
  • Narrow mouth
  • Erythema
  • Camptodactyly of finger
  • Finger syndactyly
  • Papule
  • Nail dystrophy

And another 37 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Hereditary Acrokeratotic Poikiloderma, Weary Type Is also known as congenital poikiloderma with bullae, weary type.

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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Hereditary Acrokeratotic Poikiloderma, Weary Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
FERMT1 Gene Sequencing.

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

FERMT1
Specificity
100 %
Genes
100 %
FERMT1 Deletion/duplication analysis.

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

FERMT1
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 %
FERMT1.

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

FERMT1
Specificity
100 %
Genes
100 %
Kindler syndrome (sequence analysis of FERMT1 gene).

By CGC Genetics (Portugal).

FERMT1
Specificity
100 %
Genes
100 %
Epidermolysis bullosa (NGS panel for 18 genes).

By CGC Genetics (Portugal).

DST, FERMT1, COL17A1, COL7A1, DSP, EXPH5, ITGA3, ITGA6, ITGB4, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PLEC
Specificity
6 %
Genes
100 %
Kindler syndrome (deletion/duplication analysis of FERMT1 gene).

By CGC Genetics (Portugal).

FERMT1
Specificity
100 %
Genes
100 %

We have 18 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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