HR gene related symptoms and diseases

All the information presented here about the HR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HR gene

Symptoms // Phenotype % Cases
Alopecia universalis Common - Between 50% and 80% cases
Alopecia Common - Between 50% and 80% cases
Alopecia areata Uncommon - Between 30% and 50% cases
Hypotrichosis Uncommon - Between 30% and 50% cases
Sparse eyebrow Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with HR gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Sparse and thin eyebrow
  • Sparse eyelashes
  • Coarse hair
  • Polycystic ovaries
  • Aplasia/Hypoplasia of the eyebrow
  • Sparse body hair
  • Hirsutism
  • Pili torti

And 20 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HR gene

Here you will find a list of rare diseases related to the HR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ATRICHIA WITH PAPULAR LESIONS


Alternate names

ATRICHIA WITH PAPULAR LESIONS Is also known as papular atrichia

Description

Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.

Most common symptoms of ATRICHIA WITH PAPULAR LESIONS

  • Global developmental delay
  • Alopecia
  • Hyperhidrosis
  • Papule
  • Hypotrichosis


More info about ATRICHIA WITH PAPULAR LESIONS

SOURCES: ORPHANET OMIM MESH

ALOPECIA UNIVERSALIS


Description

Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.

Most common symptoms of ALOPECIA UNIVERSALIS

  • Absent eyebrow
  • Absent eyelashes
  • Alopecia universalis
  • Alopecia areata


More info about ALOPECIA UNIVERSALIS

SOURCES: ORPHANET

MARIE UNNA HEREDITARY HYPOTRICHOSIS


Alternate names

MARIE UNNA HEREDITARY HYPOTRICHOSIS Is also known as hypotrichosis, marie unna type, marie unna hereditary hypotrichosis 1, muhh, muhh1, hypotrichosis, marie unna type, 1, marie unna congenital hypotrichosis

Description

Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.

Most common symptoms of MARIE UNNA HEREDITARY HYPOTRICHOSIS

  • Alopecia
  • Cleft lip
  • Hypotrichosis
  • Oral cleft
  • Hirsutism


More info about MARIE UNNA HEREDITARY HYPOTRICHOSIS

SOURCES: ORPHANET OMIM

ALOPECIA UNIVERSALIS CONGENITA; ALUNC


Alternate names

ALOPECIA UNIVERSALIS CONGENITA; ALUNC Is also known as atrichia, generalized

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.

Most common symptoms of ALOPECIA UNIVERSALIS CONGENITA; ALUNC

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


More info about ALOPECIA UNIVERSALIS CONGENITA; ALUNC

SOURCES: OMIM


Potential gene panels for HR gene

HR. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the HR gene.

More info about this panel

Alopecia universalis (sequence analysis of HR gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the HR gene.

More info about this panel

Hypotrichosis (NGS panel of 10 genes) Panel

Portugal.

By CGC Genetics Hypotrichosis (NGS panel of 10 genes) that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 CDSN LIPH DSG4 KRT71 KRT74 HR

More info about this panel

Hypotrichosis (NGS panel of 10 genes) Panel

Portugal.

By CGC Genetics Hypotrichosis (NGS panel of 10 genes) that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 CDSN LIPH DSG4 KRT71 KRT74 HR

More info about this panel

Hypotrichosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Hypotrichosis Comprehensive panel that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 CDSN LIPH DSG4 KRT71 KRT74 HR

More info about this panel

Hypotrichosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Hypotrichosis NGS panel that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 CDSN LIPH DSG4 KRT71 KRT74 HR

More info about this panel

Hypotrichosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Hypotrichosis Deletion / Duplication panel that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 CDSN LIPH DSG4 KRT71 KRT74 HR

More info about this panel

Alopecia universalis congenita and Atrichia with papular lesions Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the HR gene.

More info about this panel

Alopecia universalis congenita and Atrichia with papular lesions Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the HR gene.

More info about this panel

Alopecia universalis congenita and Atrichia with papular lesions NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the HR gene.

More info about this panel

Atrichia with papular lesions Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HR gene.

More info about this panel

Alopecia universalis Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HR gene.

More info about this panel

Hypotrichosis type 4 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HR gene.

More info about this panel

Nonsyndromic hypotrichosis panel Panel

Germany.

By Centogene AG - the Rare Disease Company Nonsyndromic hypotrichosis panel that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 CDSN LIPH DSG4 KRT71 KRT74 HR

More info about this panel

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel

Germany.

By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6

More info about this panel

HR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HR gene.

More info about this panel

Ectodermal Dysplasia Panel Panel

Finland.

By Blueprint Genetics Ectodermal Dysplasia Panel that also includes the following genes: RMRP BCS1L IFT122 WNT10A EDARADD TP63 MPLKIP CDH3 PORCN EVC2

More info about this panel

ALOPECIA UNIVERSALIS CONGENITA; ALUNC Panel

Spain.

By Bioarray

This panel specifically test the HR gene.

More info about this panel

ATRICHIA WITH PAPULAR LESIONS Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the HR gene.

More info about this panel

Alopecia Universalis, Sequencing HR Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the HR gene.

More info about this panel

Atrichia with Papular Lesions , Sequencing HR Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the HR gene.

More info about this panel

Hypotricosis , Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

By Reference Laboratory Genetics Hypotricosis , Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: RPL21 LPAR6 APCDD1 CDSN LIPH DSG4 KRT74 HR

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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