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proximal symphalangism 1A - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

proximal symphalangism 1A

MONDO:0020733

Also known as:Cushing symphalangismSYM1ASym1

Overview

GeneticsAutosomal dominant · NOG (chr 17)

ResearchLimited published research (1 article)

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: Proximal symphalangism of hands; and common findings: Stapes ankylosis, Conductive hearing impairment, Tarsal synostosis, and Carpal synostosis. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Aplasia/Hypoplasia of the middle phalanges of the toes, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phalanges of the hand

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.

NOG encodes noggin (232 aa). Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite. Essential for cartilage morphogenesis and joint formation. Highest expression in Cervix Ectocervix (8.8 TPM) and Cervix Endocervix (7.4 TPM).

Proximal symphalangism 1A is associated with mutations in the NOG gene on chromosome 17.

The NOG protein participates in p75NTR interacts with the NOGO receptor and Formation of paraxial mesoderm pathways.

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

Diagnosis

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

Prognosis

Phenotype severity distribution: 1 always present feature, 4 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 proximal symphalangism 1A.

1 publication has been identified in PubMed for proximal symphalangism 1A. Research spans Basic Science / Preclinical (100%).

Recent Publications

Woods JP (2025). [PMID: 40301343](https://pubmed.ncbi.nlm.nih.gov/40301343/). *Nature communications*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:185800

Questions for Your Care Team

→Should I pursue genetic testing for NOG, and what would the results mean for my family?
→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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proximal symphalangism 1A

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

Questions for Your Care Team

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