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.
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
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
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
Search interest in HR
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 Spain.
Alopecia universalis (sequence analysis of HR gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the HR gene.
More info about this panel Portugal.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
Alopecia universalis Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HR gene.
More info about this panel Germany.
Hypotrichosis type 4 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HR gene.
More info about this panel Germany.
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 Germany.
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 Germany.
HR Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HR gene.
More info about this panel United States.
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 Finland.
ALOPECIA UNIVERSALIS CONGENITA; ALUNC Panel
Spain.
By Bioarray
This panel specifically test the HR gene.
More info about this panel Spain.
ATRICHIA WITH PAPULAR LESIONS Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the HR gene.
More info about this panel Spain.
Alopecia Universalis, Sequencing HR Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the HR gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 United States.
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