Disease #01783 (FRBRL (Farber lipogranulomatosis), OMIM:228000)

Official abbreviation FRBRL
Name Farber lipogranulomatosis
OMIM ID 228000
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 12
Phenotype entries for this disease 12
Associated with 1 gene ASAH1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2025-10-22 08:51:09 +02:00 (CEST)


Individuals

12 entries on 1 page. Showing entries 1 - 12.
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00081021 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - FRBRL Farber lipogranulomatosis (OMIM:228000) ASAH1 ASAH1 1 1 Daniel Trujillano
00301342 Fam7 PubMed: Mahmoud 2020 3-generation family, 1 affected, unaffected parents M yes (Egypt) - 01y07m - - - FRBRL see paper; ..., severe; 22m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; pulmonary disease, no cardiac disease; no organomegaly; developmental delay, no seizures ASAH1 ASAH1 1 1 Mohamed A. Elmonem
00467560 Fam1 PubMed: Mahmoud 2020 3-generation family, 1 affected, unaffected parents F yes Egypt - 2y7m - - - FRBRL see paper; ..., severe; 31m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; pulmonary disease, cardiac disease; hepatosplenomegaly; normal fundus; developmental delay, no seizures ASAH1 ASAH1 1 1 Mohamed A. Elmonem
00467561 Fam2 PubMed: Mahmoud 2020 5-generation family, 1 affected, unaffected parents M yes Egypt - - - - - FRBRL see paper; ..., moderate; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; pulmonary disease, no cardiac disease; no organomegaly; normal fundus; developmental delay, no seizures ASAH1 ASAH1 1 1 Mohamed A. Elmonem
00467562 Fam3 PubMed: Mahmoud 2020 4-generation family, 1 affected, unaffected parents F yes Egypt - - - - - FRBRL see paper; ..., moderate; hoarseness of voice; joint pain, no joint contractures; subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; normal fundus; no developmental delay, no seizures ASAH1 ASAH1 1 1 Mohamed A. Elmonem
00467563 Fam4 PubMed: Mahmoud 2020 5-generation family, 6 affected sisters/brothers (2F, 4M), unaffected parents M yes Egypt - 2y10m - - - FRBRL see paper; ..., severe; 34m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; pulmonary disease, cardiac disease; palpable liver; normal fundus; developmental delay, no seizures ASAH1 ASAH1 1 6 Mohamed A. Elmonem
00467564 Fam5 PubMed: Mahmoud 2020 3-generation family, affected brother/sister, unaffected parents F yes Egypt - - - - - FRBRL see paper; ..., moderate; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; pulmonary disease, cardiac disease; no organomegaly; normal fundus; no developmental delay, no seizures ASAH1 ASAH1 1 2 Mohamed A. Elmonem
00467565 Fam6 PubMed: Mahmoud 2020 3-generation family, 2 affected sisters, unaffected parents F yes Egypt - 1y10m - - - FRBRL see paper; ..., severe; 22m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; normal fundus; no developmental delay, no seizures ASAH1 ASAH1 1 2 Mohamed A. Elmonem
00467566 Fam8 PubMed: Mahmoud 2020 2-generation family, 1 affected, unaffected parents M yes Egypt - - - - - FRBRL see paper; ..., severe; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; developmental delay, no seizures ASAH1 ASAH1 1 1 Mohamed A. Elmonem
00467567 Fam10 PubMed: Mahmoud 2020 5-generation family, 2 affected sisters, unaffected parents F yes Egypt - 2y7m - - - FRBRL see paper; ..., severe; 31m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; normal fundus; no developmental delay, no seizures ASAH1 ASAH1 1 2 Mohamed A. Elmonem
00467568 Fam11 PubMed: Mahmoud 2020 4-generation family, 1 affected, unaffected parents F yes Egypt - 2y3m - - - FRBRL see paper; ..., severe; 27m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; no pulmonary disease, no cardiac disease; palpable liver; normal fundus; developmental delay, no seizures ASAH1 ASAH1 1 1 Mohamed A. Elmonem
00467569 Fam12 PubMed: Mahmoud 2020 4-generation family, 1 affected, unaffected parents M yes Egypt - 3y - - - FRBRL see paper; ..., severe; 3y-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; normal fundus; developmental delay, no seizures ASAH1 ASAH1 1 1 Mohamed A. Elmonem
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