KRT74 gene related symptoms and diseases

All the information presented here about the KRT74 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KRT74 gene

Symptoms // Phenotype % Cases
Hypotrichosis Common - Between 50% and 80% cases
Hyperhidrosis Common - Between 50% and 80% cases
Alopecia Common - Between 50% and 80% cases
Brittle hair Common - Between 50% and 80% cases
Hair-nail ectodermal dysplasia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with KRT74 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Onycholysis
  • Sparse body hair
  • Palmoplantar hyperkeratosis
  • Ectodermal dysplasia
  • Nail dystrophy
  • Sparse hair
  • Hyperkeratosis
  • Hypotrichosis of the scalp

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

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Rare diseases associated to KRT74 gene

Here you will find a list of rare diseases related to the KRT74. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPOTRICHOSIS SIMPLEX OF THE SCALP


Alternate names

HYPOTRICHOSIS SIMPLEX OF THE SCALP Is also known as hypotrichosis, spanish type, htss1, hypotrichosis simplex of the scalp 1, htss, hereditary hypotrichosis simplex of the scalp

Description

Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.

Most common symptoms of HYPOTRICHOSIS SIMPLEX OF THE SCALP

  • Alopecia
  • Hypotrichosis
  • Sparse scalp hair
  • Hypotrichosis of the scalp


More info about HYPOTRICHOSIS SIMPLEX OF THE SCALP

SOURCES: OMIM ORPHANET MESH

PURE HAIR AND NAIL ECTODERMAL DYSPLASIA


Alternate names

PURE HAIR AND NAIL ECTODERMAL DYSPLASIA Is also known as hair-nail ectodermal dysplasia, hned, phned, ectodermal dysplasia, 'pure' hair/nail type

Description

Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.

Most common symptoms of PURE HAIR AND NAIL ECTODERMAL DYSPLASIA

  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis
  • Sparse hair
  • Papule


More info about PURE HAIR AND NAIL ECTODERMAL DYSPLASIA

SOURCES: MESH OMIM ORPHANET

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

ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE; ECTD7


Description

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.

Most common symptoms of ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE; ECTD7

  • Alopecia
  • Hyperhidrosis
  • Nail dystrophy
  • Hypotrichosis
  • Ectodermal dysplasia


More info about ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE; ECTD7

SOURCES: OMIM

HYPOTRICHOSIS 3; HYPT3


Alternate names

HYPOTRICHOSIS 3; HYPT3 Is also known as hypotrichosis simplex of the scalp 2, htss2

Description

Hypotrichosis simplex can affect all body hair (generalized; see {605389}) or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from patients with early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by Betz et al., 2000).For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (OMIM ).

Most common symptoms of HYPOTRICHOSIS 3; HYPT3

  • Hyperhidrosis
  • Sparse hair
  • Hypotrichosis
  • Sparse scalp hair
  • Hypotrichosis of the scalp


More info about HYPOTRICHOSIS 3; HYPT3

SOURCES: OMIM


Potential gene panels for KRT74 gene

Hypotrichosis 3 (sequence analysis of KRT74 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KRT74 gene.

More info about this panel

Ectodermal dysplasia (NGS panel for 8 genes) Panel

Portugal.

By CGC Genetics Ectodermal dysplasia (NGS panel for 8 genes) that also includes the following genes: EDARADD KRT74 EDAR EDA GJB6 HOXC13 KRT85 MSX1

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

Ectodermal dysplasia (NGS panel for 8 genes) Panel

Portugal.

By CGC Genetics Ectodermal dysplasia (NGS panel for 8 genes) that also includes the following genes: EDARADD KRT74 EDAR EDA GJB6 HOXC13 KRT85 MSX1

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

Ectodermal dysplasia Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Ectodermal dysplasia Comprehensive panel that also includes the following genes: EDARADD KDF1 KRT74 EDAR EDA GJB6 HOXC13 KRT85 MSX1

More info about this panel

Ectodermal dysplasia Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Ectodermal dysplasia Deletion / Duplication panel that also includes the following genes: EDARADD KDF1 KRT74 EDAR EDA GJB6 HOXC13 KRT85 MSX1

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

Ectodermal dysplasia NGS panel Panel

United States.

By Connective Tissue Gene Tests Ectodermal dysplasia NGS panel that also includes the following genes: EDARADD KDF1 KRT74 EDAR EDA GJB6 HOXC13 KRT85 MSX1

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

Autosomal dominant woolly hair with hypotrichosis Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KRT74 gene.

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

KRT74 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KRT74 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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