DCHS1 gene related symptoms and diseases

All the information presented here about the DCHS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DCHS1 gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Joint laxity Uncommon - Between 30% and 50% cases
Heterotopia Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with DCHS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Mitral regurgitation
  • Mitral valve prolapse
  • Hypoplasia of the corpus callosum
  • Congestive heart failure
  • Growth delay
  • High palate
  • Micrognathia
  • Rarely - Less than 30% cases

  • Downturned corners of mouth

And 104 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to DCHS1 gene

Here you will find a list of rare diseases related to the DCHS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL MITRAL VALVE PROLAPSE


Alternate names

FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1, barlow syndrome, pmv, mmvp1, floppy mitral valve, myxomatous valvular disease, familial, mitral regurgitation, familial, mvp prolapsed mitral valve, mitral valve prolapse, myxomatous 1, click-murmur syndrome, mitral valve prolaps

Description

Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

Most common symptoms of FAMILIAL MITRAL VALVE PROLAPSE

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Pain


More info about FAMILIAL MITRAL VALVE PROLAPSE

SOURCES: OMIM ORPHANET

CEREBROFACIOARTICULAR SYNDROME


Alternate names

CEREBROFACIOARTICULAR SYNDROME Is also known as cerebrofacioarticular syndrome, van maldergem syndrome

Description

Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.

Most common symptoms of CEREBROFACIOARTICULAR SYNDROME

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


More info about CEREBROFACIOARTICULAR SYNDROME

SOURCES: OMIM ORPHANET

PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM


Alternate names

PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM Is also known as heterotopia, periventricular, autosomal recessive, periventricular nodular heterotopia 2, pvnh2

Most common symptoms of PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM

SOURCES: OMIM MESH

MITRAL VALVE PROLAPSE 2; MVP2


Alternate names

MITRAL VALVE PROLAPSE 2; MVP2 Is also known as myxomatous mitral valve prolapse 2, mitral valve prolapse, myxomatous 2, mmvp2

Description

Patients with MVP2 have nonsyndromic MVP of variable severity inherited as an autosomal dominant trait.For a general phenotypic description and discussion of genetic heterogeneity of mitral valve prolapse, see MVP1 (OMIM ).

Most common symptoms of MITRAL VALVE PROLAPSE 2; MVP2

  • Congestive heart failure
  • Mitral valve prolapse
  • Mitral regurgitation


More info about MITRAL VALVE PROLAPSE 2; MVP2

SOURCES: MESH OMIM


Potential gene panels for DCHS1 gene

Periventricular nodular heterotopia (NGS panel of 8 genes) Panel

Portugal.

By CGC Genetics Periventricular nodular heterotopia (NGS panel of 8 genes) that also includes the following genes: DCHS1 ARFGEF2 ERMARD FAT4 FLNA FMR1 LRP2 NEDD4L

More info about this panel

Periventricular nodular heterotopia (NGS panel of 8 genes) Panel

Portugal.

By CGC Genetics Periventricular nodular heterotopia (NGS panel of 8 genes) that also includes the following genes: DCHS1 ARFGEF2 ERMARD FAT4 FLNA FMR1 LRP2 NEDD4L

More info about this panel

Van Maldergem Syndrome (Cerebro-Facio-Articular Syndrome) via DCHS1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the DCHS1 gene.

More info about this panel

Van Maldergem syndrome 1 Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the DCHS1 gene.

More info about this panel

Van Maldergem syndrome 1 NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the DCHS1 gene.

More info about this panel

Mitral valve prolapse 2 Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the DCHS1 gene.

More info about this panel

Mitral valve prolapse 2 Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the DCHS1 gene.

More info about this panel

Van Maldergem syndrome 1 Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the DCHS1 gene.

More info about this panel

Mitral valve prolapse 2 NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the DCHS1 gene.

More info about this panel

Connective tissue disorder Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Connective tissue disorder Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2

More info about this panel

Connective tissue disorder Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Connective tissue disorder Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2

More info about this panel

Connective tissue disorder NGS panel Panel

United States.

By Connective Tissue Gene Tests Connective tissue disorder NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Neuronal Migration Disorders Panel Panel

Germany.

By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1

More info about this panel

Neuronal Migration Disorders Panel Panel

Germany.

By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1

More info about this panel

DCHS1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DCHS1 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TOMM40 TRPC6 CNGA2 EPHA3 PIK3R5 AVPR2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more