ATP6V1E1 gene related symptoms and diseases

All the information presented here about the ATP6V1E1 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 ATP6V1E1 gene

Symptoms // Phenotype % Cases
Long philtrum Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases
Hypertelorism Very Common - Between 80% and 100% cases
Low-set ears Very Common - Between 80% and 100% cases
High palate Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ATP6V1E1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Cutis laxa
  • Broad nasal tip
  • Not very common - Between 30% and 50% cases

  • Seizures
  • Convex nasal ridge
  • Hip dysplasia
  • Triangular face
  • Joint laxity
  • Pes planus

And 80 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ATP6V1E1 gene

Here you will find a list of rare diseases related to the ATP6V1E1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE


Alternate names

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE Is also known as arcl2, classic type, arcl2, debrÉ type, autosomal recessive cutis laxa type 2, debrÉ type

Most common symptoms of AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE

SOURCES: ORPHANET

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C


Description

Autosomal recessive cutis laxa type IIC (ARCL2C) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Most common symptoms of CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Nystagmus


More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C

SOURCES: OMIM


Potential gene panels for ATP6V1E1 gene

Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection that also includes the following genes: SPARC TGFBR1 TGFBR2 TNFRSF1A TNXB C1R C1S LZTS1 ADAMTSL2 B3GALT6

More info about this panel

Cutis laxa Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Cutis laxa Deletion / Duplication panel that also includes the following genes: ATP6V0A2 EFEMP2 ELN FBLN5 LTBP4 ATP6V1A ATP6V1E1 PYCR1 ALDH18A1

More info about this panel

Cutis laxa NGS panel Panel

United States.

By Connective Tissue Gene Tests Cutis laxa NGS panel that also includes the following genes: ATP6V0A2 EFEMP2 ELN FBLN5 LTBP4 ATP6V1A ATP6V1E1 PYCR1 ALDH18A1

More info about this panel

Cutis laxa Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Cutis laxa Comprehensive panel that also includes the following genes: ATP6V0A2 EFEMP2 ELN FBLN5 LTBP4 ATP6V1A ATP6V1E1 PYCR1 ALDH18A1

More info about this panel

ATP6V1E1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATP6V1E1 gene.

More info about this panel


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