Farber's lipogranulomatosis

disorder

SNOMED 79935000CUI C0268255

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Farber Lipogranulomatosis" from the MEDLINE/PubMed database.

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A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features.

[object Object], [object Object], [object Object] et al. · Genet Med · 2018

PMID: 29048419Meta-Analysis

[Genetic analysis of a fetus with Farber lipogranulomatosis caused by ASAH1 gene variant].

[object Object], [object Object], [object Object] et al. · Zhonghua Yi Xue Yi Chuan Xue Za Zhi · 2025

PMID: 40350404Case Report

[Therapeutic perspectives for lysosomal storage disorders caused by acid ceramidase deficiency].

[object Object], [object Object], [object Object] et al. · Med Sci (Paris) · 2024

PMID: 39555879Review

Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions.

[object Object], [object Object], [object Object] et al. · Biomolecules · 2023

PMID: 36830643ReviewFull text (PMC)

Acid ceramidase deficiency: Farber disease and SMA-PME.

[object Object], [object Object], [object Object] et al. · Orphanet J Rare Dis · 2018

PMID: 30029679ReviewFull text (PMC)

Ceramidases, roles in sphingolipid metabolism and in health and disease.

[object Object], [object Object], [object Object] et al. · Adv Biol Regul · 2017

PMID: 27771292ReviewFull text (PMC)

Acid ceramidase and the treatment of ceramide diseases: The expanding role of enzyme replacement therapy.

[object Object] · Biochim Biophys Acta · 2016

PMID: 27155573Review

Spinal muscular atrophy associated with progressive myoclonus epilepsy.

[object Object], [object Object] · Epileptic Disord · 2016

PMID: 27647482Review

Cardiac dysfunction and altered gene expression in acid ceramidase-deficient mice.

[object Object], [object Object], [object Object] et al. · Am J Physiol Heart Circ Physiol · 2025

PMID: 39665198PreclinicalFull text (PMC)

Hematopoietic stem cell transplantation leads to biochemical and functional correction in two mouse models of acid ceramidase deficiency.

[object Object], [object Object], [object Object] et al. · Mol Ther · 2024

PMID: 39108096PreclinicalFull text (PMC)

Search all PubMed articles for Farber's lipogranulomatosis

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Hyperextensible fingers

Always present (100%)HP:0001187

Limited knee movement

Always present (100%)HP:0010501

Multiple, subcutaneous nodules

Always present (100%)HP:0001482

Osteolysis involving bones of the feet

Always present (100%)HP:0009134

Osteolytic defects of the phalanges of the hand

Always present (100%)HP:0009771

Ulnar deviation of the wrist

Always present (100%)HP:0003049

Abnormal circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Flexion contractures

Very frequent (80-99%)HP:0001371

Husky voice

Very frequent (80-99%)HP:0001609

Joint inflammation

Very frequent (80-99%)HP:0001369

Joint swelling

Very frequent (80-99%)HP:0001386

Periarticular subcutaneous nodules

Very frequent (80-99%)HP:0007470

Abnormal skeletal morphology

Frequent (30-79%)HP:0011842

Abnormality of the respiratory system

Frequent (30-79%)HP:0002086

Arthralgias

Frequent (30-79%)HP:0002829

Behavioral symptoms

Frequent (30-79%)HP:0000708

Brain and/or spinal cord issue

Frequent (30-79%)HP:0000707

CNS foam cells

Frequent (30-79%)HP:0003640

EMG: chronic denervation signs

Frequent (30-79%)HP:0003444

Hoarse cry

Frequent (30-79%)HP:0001615

Hypotonia, early

Frequent (30-79%)HP:0008947

Macular cherry red spot

Frequent (30-79%)HP:0010729

Poor school performance

Frequent (30-79%)HP:0001249

Poor weight gain

Frequent (30-79%)HP:0001508

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Abnormal conjunctiva morphology

Occasional (5-29%)HP:0000502

Abnormal hands

Occasional (5-29%)HP:0001155

Abnormal larynx morphology

Occasional (5-29%)HP:0025423

Abnormality of the elbow

Occasional (5-29%)HP:0009811

Abnormality of the epiglottis

Occasional (5-29%)HP:0005483

Related Conditions

Disorder of lipid storage and metabolism(parent)

Panniculitis(parent)

Disorder of lysosomal enzyme(parent)

Congenital connective tissue disorder(parent)

Fetal and/or neonatal disorder of integument(parent)

Quick Facts

SNOMED CT: 79935000
UMLS CUI: C0268255
Fully Specified Name: Farber's lipogranulomatosis (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.