Alopecia Universalis Congenita; Alunc

Table of contents:

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

Description

Alopecia universalis congenita is a severe autosomal recessive form of alopecia characterized by a complete absence of hair development affecting all scalp and body hair (Nothen et al., 1998).This rare disorder is clearly distinct from alopecia areata (AA1 ), which has an autoimmune basis with probable genetic predisposition.

Genes related to Alopecia Universalis Congenita; Alunc

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Alopecia Universalis Congenita; Alunc

Abnormality of metabolism/homeostasis
Alopecia
Neoplasm of the skin
Alopecia universalis
Alopecia areata

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

Alopecia Universalis Congenita; Alunc Is also known as atrichia, generalized.

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.

Alopecia Universalis Congenita; Alunc Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HR. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). HR Specificity 100 % Genes 100 %
Alopecia universalis (sequence analysis of HR gene). By CGC Genetics (Portugal). HR Specificity 100 % Genes 100 %
Hypotrichosis (NGS panel of 10 genes). By CGC Genetics (Portugal). RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR Specificity 10 % Genes 100 %
Hypotrichosis (NGS panel of 10 genes). By CGC Genetics (Portugal). RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR Specificity 10 % Genes 100 %
Hypotrichosis Comprehensive panel. By Connective Tissue Gene Tests (United States). RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR Specificity 10 % Genes 100 %
Hypotrichosis NGS panel. By Connective Tissue Gene Tests (United States). RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR Specificity 10 % Genes 100 %
Hypotrichosis Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR Specificity 10 % Genes 100 %
Alopecia universalis congenita and Atrichia with papular lesions Comprehensive Test. By Connective Tissue Gene Tests (United States). HR Specificity 100 % Genes 100 %

You can get up to 15 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SENIOR-LOKEN SYNDROME 5; SLSN5 REVESZ SYNDROME PARASTREMMATIC DWARFISM RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER; RALD CLEIDOCRANIAL DYSPLASIA; CCD ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 EHLERS-DANLOS SYNDROME TYPE 7A