1. Mendelian
  2. Rare Disease Genes
  3. KRT71

KRT71 gene related symptoms and diseases

All the information presented here about the KRT71 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to KRT71 gene

Symptoms // Phenotype % Cases
Hyperhidrosis Very Common - Between 80% and 100% cases
Woolly hair Very Common - Between 80% and 100% cases
Abnormal retinal morphology Uncommon - Between 30% and 50% cases
Trichorrhexis nodosa Uncommon - Between 30% and 50% cases
Slow-growing hair Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with KRT71 gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Dry hair
  • Abnormal pupil morphology
  • Sparse lateral eyebrow
  • Fair hair
  • Hypopigmentation of hair
  • Curly hair
  • Sparse body hair
  • Coarse hair

And 12 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to KRT71 gene

Here you will find a list of rare diseases related to the KRT71. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPOTRICHOSIS 13; HYPT13

Alternate names

HYPOTRICHOSIS 13; HYPT13 Is also known as hypotrichosis with woolly hair

Most common symptoms of HYPOTRICHOSIS 13; HYPT13

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


More info about HYPOTRICHOSIS 13; HYPT13

SOURCES: OMIM

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 KRT71 gene

Hypotrichosis 13 (sequence analysis of KRT71 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KRT71 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.

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.

Autosomal dominant woolly hair with hypotrichosis Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KRT71 gene.

More info about this panel
Germany.

KRT71 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KRT71 gene.

More info about this panel
United States.

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
Spain.

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
Spain.

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
Spain.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SOX9 OTX2 RHCE ALG3 USF1 IL1RAPL1