Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.

American journal of medical genetics. Part A - 1 Nov 2016

Kim Soo Yeon, Choi Sun Ah, Lee Sangmoon, Lee Jin Sook, Hong Che Ry, Lim Byung Chan, Kang Hyoung Jin, Kim Ki Joong, Park Sung-Hye, Choi Murim, Chae Jong-Hee

Abstract excerpt

Farber disease is a very rare autosomal recessive disease caused by mutation of ASAH1 that results in the accumulation of ceramide in various tissues. Clinical symptoms of classic Farber disease comprise painful joint deformity, hoarseness of voice, and subcutaneous nodules. Here, we describe a patient with Farber disease with atypical presentation of early onset hypotonia, sacral mass, congenital heart disease,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Infant
Share to Age of Onset

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Amino Acid Substitution

Share to High-Throughput Nucleotide Sequencing

Share to Infant, Newborn

Share to Magnetic Resonance Imaging

Source

Identifiers

PMID: 27411168
DOI: 10.1002/ajmg.a.37846

Genes

ASAH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.PMID 27411168Read ↗

A novel mutation in an atypical presentation of the rare infantile Farber disease.Semantic proximity Read ↗

Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.Semantic proximity Read ↗

[A case report of childhood Farber's disease and literature review].Semantic proximity Read ↗

ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.Semantic proximity Read ↗

Farber disease in a patient from China.Semantic proximity Read ↗

ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.Semantic proximity Read ↗

Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.Semantic proximity Read ↗

Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.Semantic proximity Read ↗

Functional analysis of a novel splice site variant in the ASAH1 gene.Semantic proximity Read ↗

Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.Semantic proximity Read ↗

Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.Semantic proximity Read ↗

Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.