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anencephaly 1 (ANPH) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

anencephaly 1

MONDO:0008791

Also known as:ANPHanencephalyisolated anencephaly/exencephaly

Overview

Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

GeneticsAutosomal recessive · TRIM36 (chr 5)

OnsetCONGENITAL

Clinical Presentation

Features include always present findings: Anencephaly and Spina bifida.

Age of onset: at birth.

Explore clinical features

Genetic Landscape

TRIM36 function has not been fully characterized.

Anencephaly 1 is associated with mutations in the TRIM36 gene on chromosome 5.

Diagnosis

Genetic testing for TRIM36 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for anencephaly 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features.

Estimated prevalence: 1-9 in 1,000,000 (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 anencephaly 1.

101 publications have been identified in PubMed for anencephaly 1. Research spans Epidemiology / Natural History (40%), Review / Meta-Analysis (18%), and Case Report / Case Series (18%).

Research Type	Count	% of Total
Disease patterns and progression	36	40%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 5:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:206500

Orphanet

European rare disease database

Orphanet:1048

GARD

Genetic and Rare Diseases Info Center

GARD:5808

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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anencephaly 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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