ATP6V0A2 gene related symptoms and diseases

All the information presented here about the ATP6V0A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to ATP6V0A2 gene

Symptoms // Phenotype	% Cases
Carious teeth	Very Common - Between 80% and 100% cases
Motor delay	Very Common - Between 80% and 100% cases
Postnatal growth retardation	Very Common - Between 80% and 100% cases
Dandy-Walker malformation	Very Common - Between 80% and 100% cases
Lipodystrophy	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ATP6V0A2 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Inguinal hernia
High myopia
Long philtrum
Abnormal isoelectric focusing of serum transferrin
Downslanted palpebral fissures
Intrauterine growth retardation
Global developmental delay
High palate

And 113 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ATP6V0A2 gene

Here you will find a list of rare diseases related to the ATP6V0A2. 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 IIA; ARCL2A

Alternate names

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay, cutis laxa, debre type, cutis laxa with bone dystrophy, cutis laxa with joint laxity and retarded development, arcl2, cutis laxa with congenital disorder of glycosylation

Description

Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

Most common symptoms of CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

SOURCES: OMIM

WRINKLY SKIN SYNDROME

Alternate names

WRINKLY SKIN SYNDROME Is also known as wrinkled skin syndrome, wss

Description

Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).

Most common symptoms of WRINKLY SKIN SYNDROME

Intellectual disability
Global developmental delay
Short stature
Microcephaly
Scoliosis

More info about WRINKLY SKIN SYNDROME

SOURCES: OMIM MESH ORPHANET

Search interest in ATP6V0A2

Potential gene panels for ATP6V0A2 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

ATP6V0A2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ATP6V0A2 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to ATP6V0A2 gene

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE

Alternate names

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

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

Alternate names

Description

Most common symptoms of CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

WRINKLY SKIN SYNDROME

Alternate names

Description

Most common symptoms of WRINKLY SKIN SYNDROME

Search interest in ATP6V0A2

Potential gene panels for ATP6V0A2 gene

MitoMet®Plus aCGH Analysis Panel

Congenital Disorders of Glycosylation Panel Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders Panel

NGS Connective Tissue Disorders Panel Panel

Congenital Disorders of Glycosylation Panel

Cerebral Cortical Malformation Sequencing Panel Panel

Lissencephaly Sequencing Panel Panel

Comprehensive Lissencephaly Panel Panel

Cobblestone Lissencephaly Panel Panel

Cerebral Cortical Malformations Deletion/Duplication Panel Panel

Lissencephaly Panel Panel

Connective Tissue Disorders Panel Panel

Cutis Laxa Panel Panel

ATP6V0A2. Complete sequencing Panel

Autosomal recessive cutis laxa type 2A (sequence analysis of ATP6V0A2 gene) Panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

ATP6V0A2 Sequence Analysis Panel

Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel

Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection Panel

Autosomal Recessive Cutis Laxa Type IIA (ARCL2A) and Wrinkly Skin Syndrome (WSS) via ATP6V0A2 Gene Sequencing with CNV Detection Panel

Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel

Cutis laxa Deletion / Duplication panel Panel

Cutis laxa NGS panel Panel

Cutis laxa Comprehensive panel Panel

Lissencephaly and related disorders NGS test Panel

Lissencephaly and related disorders Deletion / Duplication test Panel

Lissencephaly and related disorders Comprehensive test Panel

Mental retardation - different panels Panel

Cutis laxa panel Panel

Cutis laxa type 2A, autosomal recessive Panel

AllNeuro panel Panel

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel

Chondrodysplasia punctata Panel Panel

Brain malformations Panel

Ehlers-Danlos Syndrome Panel

ATP6V0A2 mutational analysis Panel

Cutis laxa gene panel Panel

Invitae Congenital Disorders of Glycosylation Panel Panel

Congenital disorder of multiple glycosylation (CDG) Panel

Congenital Disorder of Glycosylation, ATP6V0A2-Related: ATP6V0A2 Gene Sequencing Panel

Congenital Disorder of Glycosylation, ATP6V0A2-Related: ATP6V0A2 Gene Deletion/Duplication Panel

Congenital Disorders of Glycosylation: Sequencing Panel Panel

Connective Tissue Disorders: Sequencing Panel Panel

Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel Panel

Skeletal Dysplasia: Sequencing Panel Panel

Connective Tissue Disorders: Deletion/Duplication Panel Panel

Congenital Disorders of Glycosylation: Deletion/Duplication Panel Panel

Congenital Disorders of Glycosylation NGS Panel Panel

Connective Tissue NGS Panel Panel

Epilepsy NGS Panel Panel

Skeletal Dysplasias NGS panel Panel

ATP6V0A2 Panel

Comprehensive Epilepsy NGS Panel Panel

Cutis Laxa Panel Panel

Lissencephaly Panel Panel

Ehlers-Danlos Syndrome Panel Panel

Congenital Disorders of Glycosylation Panel Panel

Comprehensive Metabolism Panel Panel

Neuronal Migration Disorder Panel Panel