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fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fibrosis, neurodegeneration, and cerebral angiomatosis

MONDO:0032651

Also known as:FINCAFINCA syndromefibrosis-neurodegeneration-cerebral angiomatosis syndrome

Overview

Any syndromic disease caused by a mutation in the NHLRC2 gene and is characterized by severe progressive cerebropulmonary symptoms, resulting in death in infancy from respiratory failure. Features include malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia, and transient liver dysfunction.

GeneticsAutosomal recessive · NHLRC2 (chr 10)

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: Strabismus, Dystonia, Enlarged liver (hepatomegaly), and Motor delay and others; and common findings: Seizure, Enlarged heart (cardiomegaly), and Microvesicular hepatic steatosis. 42 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	7	Decreased mean corpuscular volume, Recurrent infections, Increased immature red blood cells (reticulocytosis)

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.

NHLRC2 encodes NHL repeat containing 2 (726 aa). Required for normal embryonic development Highest expression in Cervix Ectocervix (17.4 TPM) and Ovary (17.1 TPM).

Fibrosis, neurodegeneration, and cerebral angiomatosis is associated with mutations in the NHLRC2 gene on chromosome 10.

NHLRC2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NHLRC2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for fibrosis, neurodegeneration, and cerebral angiomatosis has been reported in the published literature.

Prognosis

Phenotype severity distribution: 30 always present features, 3 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 fibrosis, neurodegeneration, and cerebral angiomatosis.

114 publications have been identified in PubMed for fibrosis, neurodegeneration, and cerebral angiomatosis. Research spans Review / Meta-Analysis (37%), Case Report / Case Series (36%), and Epidemiology / Natural History (9%).

Research Type	Count	% of Total
Research summaries	42	37%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618278

Orphanet

European rare disease database

Orphanet:621758

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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Kisho

fibrosis, neurodegeneration, and cerebral angiomatosis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

fibrosis, neurodegeneration, and cerebral angiomatosis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications