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Features include always present findings: Laryngeal stenosis, Cryptophthalmos, and Enlarged fetal lungs; and common findings: Seizure, Cleft palate, Anophthalmia, and Conductive hearing impairment and others. 67 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 6 | Cleft ala nasi, Cleft palate, Microcephaly |
FRAS1 encodes Fraser extracellular matrix complex subunit 1 (4,008 aa). Involved in extracellular matrix organization. Required for the regulation of epidermal-basement membrane adhesion responsible for proper organogenesis during embryonic development. Highest expression in Thyroid (15.0 TPM) and Cells Cultured fibroblasts (11.0 TPM).
Fraser syndrome 1 is associated with mutations in the FRAS1 gene on chromosome 4.
FRAS1 is classified as a druggable target with score 0.0.
Genetic testing for FRAS1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Fraser syndrome 1 has been reported in the published literature.
Phenotype severity distribution: 3 always present features, 8 common features.
No clinical trials have been registered for Fraser syndrome 1.
110 publications have been identified in PubMed for Fraser syndrome 1. Research spans Basic Science / Preclinical (22%), Review / Meta-Analysis (21%), and Epidemiology / Natural History (19%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 24 | 22% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:03 PM UTC
Online Mendelian Inheritance in Man
Common questions about Fraser syndrome 1
Brain and nerves
4 |
Seizure, Hydrocephalus, Intellectual disability |
Eyes | 2 | Cloudy or opaque cornea (corneal opacity), Blindness |
Kidneys and urinary system | 2 | Renal hypoplasia, Renal hypoplasia/aplasia |
Arms and legs | 2 | Cutaneous finger syndactyly, Aplasia/Hypoplasia of the phalanges of the hand |
Lungs and breathing | 2 | Pulmonary hypoplasia, Enlarged fetal lungs |
Ears | 1 | Conductive hearing impairment |
Skin | 1 | Small nail |
Digestive system | 1 | Abnormal small intestine morphology |
Muscles | 1 | Tongue muscle weakness |
Blood and immune system | 1 | Severe T-cell immunodeficiency |
Pregnancy and birth | 1 | Enlarged fetal lungs |
Heart and blood vessels | 1 | Abnormal heart morphology |
Growth and development | 1 | Extension of hair growth on temples to lateral eyebrow |
Age of onset: before birth.
23 |
21% |
Disease patterns and progression | 21 | 19% |
Clinical study results | 16 | 15% |
Patient case studies | 15 | 14% |
Testing and diagnosis research | 8 | 7% |
New treatment approaches | 2 | 2% |
Other research | 1 | 1% |
McCain K (2026). [PMID: 41800449](https://pubmed.ncbi.nlm.nih.gov/41800449/). *Nat Health*. [Review / Meta-Analysis]
Malhotra D (2026). [PMID: 42144508](https://pubmed.ncbi.nlm.nih.gov/42144508/). *Infect Dis Ther*. [Review / Meta-Analysis]
Perros AJ (2026). [PMID: 42144144](https://pubmed.ncbi.nlm.nih.gov/42144144/). *Immunol Lett*. [Basic Science / Preclinical]
Nielsen JC (2026). [PMID: 41109977](https://pubmed.ncbi.nlm.nih.gov/41109977/). *Clin Pharmacol Drug Dev*. [Clinical Trial Publication]
Bhella S (2026). [PMID: 41592280](https://pubmed.ncbi.nlm.nih.gov/41592280/). *Blood Adv*. [Clinical Trial Publication]
Sahu D (2026). [PMID: 41947042](https://pubmed.ncbi.nlm.nih.gov/41947042/). *Clin Proteomics*. [Review / Meta-Analysis]
Ekwunife O (2026). [PMID: 42084873](https://pubmed.ncbi.nlm.nih.gov/42084873/). *JAMA Netw Open*. [Basic Science / Preclinical]
El-Dessouky SH (2026). [PMID: 41795876](https://pubmed.ncbi.nlm.nih.gov/41795876/). *Ophthalmic Genet*. [Basic Science / Preclinical]
Menon K (2026). [PMID: 41504575](https://pubmed.ncbi.nlm.nih.gov/41504575/). *Pediatr Crit Care Med*. [Clinical Trial Publication]
Butler CC (2026). [PMID: 42019019](https://pubmed.ncbi.nlm.nih.gov/42019019/). *N Engl J Med*. [Clinical Trial Publication]