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.

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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

SOURCES: OMIM ORPHANET


Potential gene panels for HDAC6 gene

Hydrocephalus Sequencing Panel with CNV Detection Panel

United States.

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 panel

HDAC6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HDAC6 gene.

More info about this panel

Tempus xO assay Panel

United States.

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 panel


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