HDAC6 gene related symptoms and diseases
All the information presented here about the HDAC6 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 HDAC6 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Platyspondyly | Very Common - Between 80% and 100% cases |
Metaphyseal cupping of proximal phalanges | Very Common - Between 80% and 100% cases |
Abnormality of the calcaneus | Very Common - Between 80% and 100% cases |
Distal shortening of limbs | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with HDAC6 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Metaphyseal cupping of metacarpals
- Severe platyspondyly
- Metaphyseal chondrodysplasia
- 11 pairs of ribs
- Decreased skull ossification
- Hypoplastic iliac wing
- Thin ribs
- Rhizomelia
And 20 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HDAC6 gene
Here you will find a list of rare diseases related to the HDAC6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE
Alternate names
X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE Is also known as x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
Description
X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.
Most common symptoms of X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE
- Intellectual disability
- Short stature
- Growth delay
- Micrognathia
- Low-set ears
More info about X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE
Search interest in HDAC6
Potential gene panels for HDAC6 gene
Hydrocephalus Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hydrocephalus Sequencing Panel with CNV Detection that also includes the following genes: ZIC3 HDAC6 CCND2 CRB2 CCDC88C FLVCR2 WDR81 DNAI1 EML1 AKT3
More info about this panelHDAC6 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HDAC6 gene.
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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 BUB1B NAA15 ESPN CEP152 KLF1 RARB DVL1