Hereditary Acrokeratotic Poikiloderma, Weary Type

Table of contents:

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

Genes related to Hereditary Acrokeratotic Poikiloderma, Weary Type

FERMT1

View recommended genes panels

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

— 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

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.

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 Panel complete gene list DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC 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 %

You can get up to 18 more panels with our dedicated tool

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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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