HACD1 gene related symptoms and diseases

All the information presented here about the HACD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HACD1 gene

Symptoms // Phenotype % Cases
Neoplasm Uncommon - Between 30% and 50% cases
Joint laxity Uncommon - Between 30% and 50% cases
Generalized muscle weakness Uncommon - Between 30% and 50% cases
Pulmonary hypoplasia Uncommon - Between 30% and 50% cases
Long face Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with HACD1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Ophthalmoplegia
  • Dilated cardiomyopathy
  • Hyperlordosis
  • Kyphoscoliosis
  • Decreased fetal movement
  • Polyhydramnios
  • Recurrent respiratory infections
  • Pectus excavatum

And 62 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HACD1 gene

Here you will find a list of rare diseases related to the HACD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


POLYCYSTIC OVARY SYNDROME 1; PCOS1


Alternate names

POLYCYSTIC OVARY SYNDROME 1; PCOS1 Is also known as pco, pco1, hyperandrogenemia, stein-leventhal syndrome, pcos

Description

a health problem that can affect a woman's menstrual cycle, fertility, hormones, insulin production, heart, blood vessels, and appearance

Most common symptoms of POLYCYSTIC OVARY SYNDROME 1; PCOS1

  • Neoplasm
  • Abnormality of metabolism/homeostasis
  • Obesity
  • Diabetes mellitus
  • Apnea


More info about POLYCYSTIC OVARY SYNDROME 1; PCOS1

SOURCES: OMIM MESH

CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY


Alternate names

CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY Is also known as cftdm

Description

Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life.

Most common symptoms of CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Muscular hypotonia


More info about CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

SOURCES: ORPHANET


Potential gene panels for HACD1 gene

Neuromuscular Disorders Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2

More info about this panel

Congenital Myopathy Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON

More info about this panel

Congenital Myopathy Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Myopathy Deletion/Duplication Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON

More info about this panel

Congenital and Distal Myopathies Panel Panel

Germany.

By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3

More info about this panel

HACD1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HACD1 gene.

More info about this panel


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