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.
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
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
Search interest in HACD1
Potential gene panels for HACD1 gene
Neuromuscular Disorders Sequencing Panel Panel
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 panelCongenital Myopathy Sequencing Panel Panel
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 panelCongenital Myopathy Deletion/Duplication Panel Panel
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 panelCongenital and Distal Myopathies Panel Panel
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 panelHACD1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HACD1 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CLEC12B ERCC3 GCKR APOL1 USF1 PCSK1 GPAA1