DACT1 gene related symptoms and diseases

All the information presented here about the DACT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DACT1 gene

Symptoms // Phenotype % Cases
Anal atresia Common - Between 50% and 80% cases
Spina bifida Common - Between 50% and 80% cases
Arnold-Chiari malformation Uncommon - Between 30% and 50% cases
Preaxial hand polydactyly Uncommon - Between 30% and 50% cases
Bifid scrotum Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with DACT1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Cupped ear
  • Triphalangeal thumb
  • Chorioretinal coloboma
  • Overfolded helix
  • Abnormality of vision
  • Cranial nerve paralysis
  • Bowel incontinence
  • Spina bifida occulta

And 69 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DACT1 gene

Here you will find a list of rare diseases related to the DACT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CRANIORACHISCHISIS


Description

Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.

Most common symptoms of CRANIORACHISCHISIS

  • Anal atresia
  • Congenital diaphragmatic hernia
  • Omphalocele
  • Spina bifida
  • Anencephaly


More info about CRANIORACHISCHISIS

SOURCES: ORPHANET

TOWNES-BROCKS SYNDROME


Alternate names

TOWNES-BROCKS SYNDROME Is also known as renal-ear-anal-radial syndrome, tbs, rear syndrome, townes syndrome, imperforate anus with hand, foot and ear anomalies, sensorineural deafness with imperforate anus and hypoplastic thumbs

Description

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.

Most common symptoms of TOWNES-BROCKS SYNDROME

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Failure to thrive


More info about TOWNES-BROCKS SYNDROME

SOURCES: OMIM ORPHANET

OCCIPITAL ENCEPHALOCELE



More info about OCCIPITAL ENCEPHALOCELE

SOURCES: ORPHANET


Potential gene panels for DACT1 gene

DACT1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DACT1 gene.

More info about this panel


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