APCDD1 gene related symptoms and diseases

All the information presented here about the APCDD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to APCDD1 gene

Symptoms // Phenotype % Cases
Alopecia Very Common - Between 80% and 100% cases
Hyperhidrosis Very Common - Between 80% and 100% cases
Sparse hair Very Common - Between 80% and 100% cases
Hypotrichosis Very Common - Between 80% and 100% cases
Sparse and thin eyebrow Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with APCDD1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Sparse eyelashes
  • Sparse eyebrow
  • Sparse body hair
  • Sparse axillary hair
  • Sparse pubic hair
  • Hypotrichosis of the scalp
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to APCDD1 gene

Here you will find a list of rare diseases related to the APCDD1. 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


Potential gene panels for APCDD1 gene

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 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the APCDD1 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

APCDD1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the APCDD1 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/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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NNT

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more