Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

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

Rare Disease

cutis laxa, autosomal recessive, type 2E

MONDO:0030337

Also known as:ARCL2Ecutis laxa, autosomal recessive, type IIE

Overview

GeneticsAutosomal recessive · LTBP1 (chr 2)

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: Short stature, Broad nasal tip, Cutis laxa, and Wide nasal bridge and others; and very common findings: Long philtrum, Brachydactyly, Coarse facial features, and Deep palmar crease and others. 33 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	4	Coarse facial features, High palate, Thick lower lip vermilion

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.

LTBP1 encodes latent transforming growth factor beta binding protein 1 (1,721 aa). Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Highest expression in Artery Aorta (576.9 TPM) and Artery Tibial (380.4 TPM).

Cutis laxa, autosomal recessive, type 2E is associated with mutations in the LTBP1 gene on chromosome 2.

The LTBP1 protein participates in LTBP1:TGFB1:LAP1:LAP1-binding integrins and LTBP1, LTBP3 bind TGF-Beta pathways.

LTBP1 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for LTBP1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 9 very common features, 13 common features.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619451

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?

← Back to All Diseases

cutis laxa, autosomal recessive, type 2E

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features