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.
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
OCCIPITAL ENCEPHALOCELE
Search interest in DACT1
Potential gene panels for DACT1 gene
DACT1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DACT1 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 PGR SMIM1 ANKK1 CLCN1 SGSH ADAMTSL4 ZNF507