Alopecia Areata 1; Aa1

Description

Alopecia areata is a genetically determined, immune-mediated disorder of the hair follicle with an estimated lifetime risk of approximately 2%, making it one of the most common human autoimmune diseases. It shows a spectrum of severity that ranges from patchy localized hair loss on the scalp to the complete absence of hair everywhere on the body (Gilhar and Kalish, 2006).

Clinical Features

Phenotypes and symptoms related to Alopecia Areata 1; Aa1

  • Autoimmunity
  • Absent eyebrow
  • Absent eyelashes
  • Alopecia totalis
  • Alopecia universalis
  • Alopecia areata
  • Nail pits
  • Trachyonychia

Incidence and onset information

— Based on the latest data available Alopecia Areata 1; Aa1 have a estimated prevalence of 25 per 100k worldwide.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Alopecia Areata 1; Aa1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HR. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

HR
Specificity
100 %
Genes
100 %
Alopecia universalis (sequence analysis of HR gene).

By CGC Genetics in Portugal.

HR
Specificity
100 %
Genes
100 %
Hypotrichosis (NGS panel of 10 genes).

By CGC Genetics in Portugal.

CDSN, DSG4, HR, LPAR6, KRT71, KRT74, RPL21, SNRPE, APCDD1, LIPH
Specificity
10 %
Genes
100 %
Hypotrichosis (NGS panel of 10 genes).

By CGC Genetics in Portugal.

CDSN, DSG4, HR, LPAR6, KRT71, KRT74, RPL21, SNRPE, APCDD1, LIPH
Specificity
10 %
Genes
100 %
Hypotrichosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CDSN, DSG4, HR, LPAR6, KRT71, KRT74, RPL21, SNRPE, APCDD1, LIPH
Specificity
10 %
Genes
100 %
Hypotrichosis NGS panel.

By Connective Tissue Gene Tests in United States.

CDSN, DSG4, HR, LPAR6, KRT71, KRT74, RPL21, SNRPE, APCDD1, LIPH
Specificity
10 %
Genes
100 %
Hypotrichosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

CDSN, DSG4, HR, LPAR6, KRT71, KRT74, RPL21, SNRPE, APCDD1, LIPH
Specificity
10 %
Genes
100 %
Alopecia universalis congenita and Atrichia with papular lesions Comprehensive Test.

By Connective Tissue Gene Tests in United States.

HR
Specificity
100 %
Genes
100 %
Alopecia universalis congenita and Atrichia with papular lesions Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

HR
Specificity
100 %
Genes
100 %
Alopecia universalis congenita and Atrichia with papular lesions NGS Test.

By Connective Tissue Gene Tests in United States.

HR
Specificity
100 %
Genes
100 %
Atrichia with papular lesions.

By Centogene AG - the Rare Disease Company in Germany.

HR
Specificity
100 %
Genes
100 %
Alopecia universalis.

By Centogene AG - the Rare Disease Company in Germany.

HR
Specificity
100 %
Genes
100 %
Hypotrichosis type 4.

By Centogene AG - the Rare Disease Company in Germany.

HR
Specificity
100 %
Genes
100 %
Nonsyndromic hypotrichosis panel.

By Centogene AG - the Rare Disease Company in Germany.

CDSN, DSG4, HR, LPAR6, KRT71, KRT74, RPL21, SNRPE, APCDD1, LIPH
Specificity
10 %
Genes
100 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel.

By CeGaT GmbH in Germany.

BCS1L, DSP, FGFR3, GJB6, PORCN, SHOC2, FGFR2, OFD1, GRHL2, WDR35, SOX18, CTSC, TP63, CDH3, WDR19, FGF10, GJA1, IFT43, IFT122, AXIN2 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
HR.

By Fulgent Genetics Fulgent Genetics in United States.

HR
Specificity
100 %
Genes
100 %
Ectodermal Dysplasia Panel.

By Blueprint Genetics in Finland.

BCS1L, DSP, GJB2, GJB6, PORCN, RMRP, ERCC2, WDR35, TP63, CDH3, JUP, EVC, EVC2, IFT122, EDA, MPLKIP, EDAR, WNT10A, EDARADD, HR , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
ALOPECIA UNIVERSALIS CONGENITA; ALUNC.

By Bioarray in Spain.

HR
Specificity
100 %
Genes
100 %
ATRICHIA WITH PAPULAR LESIONS.

By Laboratorio de Genetica Clinica SL in Spain.

HR
Specificity
100 %
Genes
100 %
Alopecia Universalis, Sequencing HR Gene.

By Reference Laboratory Genetics in Spain.

HR
Specificity
100 %
Genes
100 %
Atrichia with Papular Lesions , Sequencing HR Gene.

By Reference Laboratory Genetics in Spain.

HR
Specificity
100 %
Genes
100 %
Hypotricosis , Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

CDSN, DSG4, HR, LPAR6, KRT74, RPL21, APCDD1, LIPH
Specificity
13 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TN POLYAGGLUTINATION SYNDROME; TNPS POLYCYSTIC KIDNEY DISEASE, INFANTILE SEVERE, WITH TUBEROUS SCLEROSIS; PKDTS HYPOSPADIAS 1, X-LINKED; HYSP1 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3; CMM3 DIAMOND-BLACKFAN ANEMIA 10; DBA10 TRITANOPIA

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more