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geroderma osteodysplastica - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

geroderma osteodysplastica

MONDO:0009271

Also known as:GERODERMA OSTEODYSPLASTICUMGOGerodermia osteodysplastica

Overview

Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.

GeneticsAutosomal recessive · GORAB (chr 1)

OnsetCONGENITAL

ResearchLimited published research (4 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: Mild bone density loss (osteopenia), Hyperextensibility of the finger joints, Premature skin wrinkling, and Hypoplasia of the maxilla and others; and very common findings: Recurrent fractures and Intellectual disability. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	12	Femoral bowing, Biconcave vertebral bodies, Weak and brittle bones (osteoporosis)

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.

GORAB encodes golgin, RAB6 interacting (369 aa). Highest expression in Cervix Endocervix (17.6 TPM) and Cervix Ectocervix (15.7 TPM).

Geroderma osteodysplastica is caused by mutations in the GORAB gene on chromosome 1.

GORAB is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 5 always present features, 2 very common features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 geroderma osteodysplastica.

4 publications have been identified in PubMed for geroderma osteodysplastica. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

Li Y (2026). [PMID: 41869872](https://pubmed.ncbi.nlm.nih.gov/41869872/). *Animal Model Exp Med*. [Basic Science / Preclinical]
Slaiby N (2026). [PMID: 41457302](https://pubmed.ncbi.nlm.nih.gov/41457302/). *Clin Genet*. [Review / Meta-Analysis]
Chan WL (2024). [PMID: 39234801](https://pubmed.ncbi.nlm.nih.gov/39234801/). *Aging Cell*. [Basic Science / Preclinical]
Saad C (2024). [PMID: 39619733](https://pubmed.ncbi.nlm.nih.gov/39619733/). *Case Rep Genet*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 1:26 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:231070

Orphanet

European rare disease database

Orphanet:2078

GARD

Genetic and Rare Diseases Info Center

GARD:413

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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geroderma osteodysplastica

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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