LPAR6 gene related symptoms and diseases

All the information presented here about the LPAR6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LPAR6 gene

Symptoms // Phenotype % Cases
Hyperhidrosis Very Common - Between 80% and 100% cases
Sparse body hair Very Common - Between 80% and 100% cases
Alopecia Common - Between 50% and 80% cases
Hyperkeratosis Common - Between 50% and 80% cases
Dry hair Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with LPAR6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Woolly hair
  • Fair hair
  • Curly hair
  • Brittle hair
  • Coarse hair
  • Palmoplantar hyperkeratosis
  • Trichorrhexis nodosa
  • Sparse axillary hair

And 31 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LPAR6 gene

Here you will find a list of rare diseases related to the LPAR6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPOTRICHOSIS SIMPLEX


Alternate names

HYPOTRICHOSIS SIMPLEX Is also known as hhs, hereditary hypotrichosis simplex, hts, hypotrichosis simplex, generalized, hereditary

Description

Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.

Most common symptoms of HYPOTRICHOSIS SIMPLEX

  • Alopecia
  • Hyperhidrosis
  • Sparse hair
  • Hypotrichosis
  • Sparse and thin eyebrow


More info about HYPOTRICHOSIS SIMPLEX

SOURCES: ORPHANET OMIM

HYPOTRICHOSIS 8; HYPT8


Alternate names

HYPOTRICHOSIS 8; HYPT8 Is also known as lah3, hypotrichosis, localized, autosomal recessive 3

Description

Hypotrichosis simplex refers to a group of hereditary isolated alopecias characterized by diffuse and progressive hair loss, usually beginning in early childhood (Pasternack et al., 2008). Localized autosomal recessive hypotrichosis (LAH) is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas (summary by Schaffer et al., 2006).Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends (summary by Petukhova et al., 2009). Several families have been reported in which some affected individuals exhibit features of hypotrichosis and others have woolly scalp hair (Khan et al., 2011).Woolly hair is also a feature of several syndromes, such as Naxos disease (OMIM ) and cardiofaciocutaneous syndrome (OMIM ) (Petukhova et al., 2009), or the palmoplantar keratoderma and cardiomyopathy syndrome (OMIM ) (Carvajal-Huerta, 1998). Genetic Heterogeneity of Hypotrichosis and Woolly HairFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (OMIM ).For a discussion of genetic heterogeneity of localized hypotrichosis, see LAH1 (HYPT6 ).Another form of autosomal recessive woolly hair with or without hypotrichosis (ARWH2 ) is caused by mutation in the LIPH gene (OMIM ) and is allelic to autosomal recessive localized hypotrichosis (LAH2). ARWH3 (OMIM ) is caused by mutation in the KRT25 gene (OMIM ) on chromosome 17q21.An autosomal dominant form of woolly hair with hypotrichosis (HYPT13 ) is caused by mutation in the KRT71 gene (OMIM ) on chromosome 12q13. Another autosomal dominant form of woolly hair (ADWH ) with normal hair density is caused by mutation in the KRT74 gene (OMIM ) on chromosome 12q13, and is allelic to an autosomal dominant form of hypotrichosis simplex of the scalp (HYPT3 ) as well as an ectodermal dysplasia of the hair/nail type (ECTD7 ).

Most common symptoms of HYPOTRICHOSIS 8; HYPT8

  • Cardiomyopathy
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema


More info about HYPOTRICHOSIS 8; HYPT8

SOURCES: OMIM MESH

WOOLLY HAIR


Alternate names

WOOLLY HAIR Is also known as wooly hair, familial woolly hair syndrome, hereditary woolly hair syndrome, familial wooly hair syndrome, hereditary wooly hair syndrome

Description

Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.

Most common symptoms of WOOLLY HAIR

  • Strabismus
  • Cataract
  • Hyperhidrosis
  • Hyperkeratosis
  • Nevus


More info about WOOLLY HAIR

SOURCES: OMIM ORPHANET


Potential gene panels for LPAR6 gene

Hypotrichosis simplex, type 8 (sequence analysis of LPAR6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LPAR6 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

Hypotrichosis type 8 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LPAR6 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

LPAR6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LPAR6 gene.

More info about this panel

HYPOTRICHOSIS SIMPLEX Panel

Spain.

By Laboratorio de Genetica Clinica SL HYPOTRICHOSIS SIMPLEX that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 LIPH DSG4 KRT71 KRT74 KRT25

More info about this panel

Woolly hair Panel

Spain.

By Laboratorio de Genetica Clinica SL Woolly hair that also includes the following genes: LPAR6 LIPH KRT71 KRT74 KRT25

More info about this panel

Woolly hair/Hypothricosis Simplex: NGS Panel Panel

Spain.

By Laboratorio de Genetica Clinica SL Woolly hair/Hypothricosis Simplex: NGS Panel that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 CDSN LIPH DSG4 KRT71 KRT74 KRT25

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


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