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autosomal recessive cutis laxa type 2C - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive cutis laxa type 2C

MONDO:0027462

Also known as:ARCL2Cautosomal recessive cutis laxa type IICcutis laxa, autosomal recessive, type 2C

Overview

An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.

GeneticsAutosomal recessive · ATP6V1E1 (chr 22)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Strabismus, Low muscle tone (hypotonia), Type II transferrin isoform profile, and Overlapping toe and others; and very common findings: Hypertelorism and Cutis laxa. 63 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	5	Low muscle tone (hypotonia), Gowers sign, Muscle weakness

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ATP6V1E1 encodes ATPase H+ transporting V1 subunit E1 (226 aa). Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. Highest expression in Brain Frontal Cortex BA9 (326.3 TPM) and Brain Cerebellar Hemisphere (264.6 TPM).

Autosomal recessive cutis laxa type 2C has limited evidence linking it to mutations in the ATP6V1E1 gene on chromosome 22.

The ATP6V1E1 protein participates in MITF-M-dependent ATP6V1E1 gene expression pathway.

ATP6V1E1 is classified as a druggable target (Enzyme and Transporter categories) with score 5.8.

Diagnosis

Genetic testing for ATP6V1E1 is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 20 always present features, 2 very common features, 19 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal recessive cutis laxa type 2C.

2 publications have been identified in PubMed for autosomal recessive cutis laxa type 2C. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Prendergast A (2025). [PMID: 40066353](https://pubmed.ncbi.nlm.nih.gov/40066353/). *Front Cardiovasc Med*. [Review / Meta-Analysis]
Kopp J (2024). [PMID: 39680136](https://pubmed.ncbi.nlm.nih.gov/39680136/). *Cell Mol Life Sci*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 12:31 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617402

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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autosomal recessive cutis laxa type 2C

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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