PedAM

Pediatric Disease Annotations & Medicines


	farber lipogranulomatosis

Disease ID	1102
Disease	farber lipogranulomatosis
Definition	A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous deposits in tissues. It results from the accumulation of CERAMIDES in various tissues due to an inherited deficiency of ACID CERAMIDASE.
Synonym	ac deficiency acid ceramidase deficiencies acid ceramidase deficiency acylsphingosine deacylase deficiency ceramidase deficiencies ceramidase deficiency ceramidase deficiency, acid deficiencies, ceramidase deficiencies, n-laurylsphingosine deacylase deficiency, acid ceramidase deficiency, ceramidase deficiency, n-laurylsphingosine deacylase disease farber s disease farbers disease, farber's diseases, farber's disseminated lipogranulomatosis farber disease farber lipogranulomatosis [disease/finding] farber's disease farber's diseases farber's lipogranulomatosis farber's lipogranulomatosis (disorder) farber-uzman syndrome farbers disease frbrl lipogranulomatosis, farber n laurylsphingosine deacylase deficiency n-laurylsphingosine deacylase deficiencies n-laurylsphingosine deacylase deficiency
Orphanet	ORPHANET:333
OMIM	OMIM:228000
DOID	DOID:0050464
UMLS	C0268255
MeSH	D055577
SNOMED-CT	SNOMEDCT_US_2016_09_01:79935000
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) SOD2 \| 6648 \| CTD_human ASAH1 \| 427 \| CLINVAR;CTD_human;UNIPROT;ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:24) 4074 \| M6PR \| DISEASES 8935 \| SKAP2 \| DISEASES 1179 \| CLCA1 \| DISEASES 125981 \| ACER1 \| DISEASES 4323 \| MMP14 \| DISEASES 10432 \| RBM14 \| DISEASES 2629 \| GBA \| DISEASES 6609 \| SMPD1 \| DISEASES 54681 \| P4HTM \| DISEASES 340485 \| ACER2 \| DISEASES 355 \| FAS \| DISEASES 26503 \| SLC17A5 \| DISEASES 22802 \| CLCA4 \| DISEASES 9635 \| CLCA2 \| DISEASES 5476 \| CTSA \| DISEASES 6606 \| SMN1 \| DISEASES 6607 \| SMN2 \| DISEASES 427 \| ASAH1 \| DISEASES 5660 \| PSAP \| DISEASES 56624 \| ASAH2 \| DISEASES 4668 \| NAGA \| DISEASES 10715 \| CERS1 \| DISEASES 1316 \| KLF6 \| DISEASES 55331 \| ACER3 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1102
Disease	farber lipogranulomatosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1102
Disease	farber lipogranulomatosis
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:7)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137853593	NA	427	ASAH1	umls:C0268255	CLINVAR	NA	0.564885954	NA	ASAH1	8	18061724	G	T,C
rs137853594	NA	427	ASAH1	umls:C0268255	CLINVAR	NA	0.564885954	NA	ASAH1	8	18064501	T	A
rs137853595	NA	427	ASAH1	umls:C0268255	CLINVAR	NA	0.564885954	NA	ASAH1	8	18075559	T	C
rs137853596	NA	427	ASAH1	umls:C0268255	CLINVAR	NA	0.564885954	NA	ASAH1	8	18059424	T	C
rs137853597	NA	427	ASAH1	umls:C0268255	CLINVAR	NA	0.564885954	NA	ASAH1	8	18062383	G	C
rs28934273	10610716	427	ASAH1	umls:C0268255	UNIPROT	A deficiency in human AC activity leads to the lysosomal storage disorder, Farber disease (FD).	0.564885954	1999	NA	NA	NA	NA	NA
rs397509415	NA	427	ASAH1	umls:C0268255	CLINVAR	NA	0.564885954	NA	ASAH1	8	18059568	T	C

GWASdb Annotation(Total Genotypes:5)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
8	17930999	rs3753116	NM_177924,ASAH1	NM_001127505,ASAH1	NM_004315,ASAH1	ENST00000417108,ENSG00000104763	ENST00000262097,ENSG00000104763	ENST00000381733,ENSG00000104763	ENST00000520781,ENSG00000104763	ENST00000314146,ENSG00000104763	ENST00000519468,ENSG00000104763	ENST00000523593,ENSG00000104763	ENST00000519545,ENSG00000104763	ENST00000518087,ENSG00000104763	ENST00000520051,ENSG00000104763	MCV-3	TFP.GATA2	NA	NA	NA	LM139,2.5054	LM174,11.5557	LM175,3.7399	HLF,17.1315	HLF,1.3871	NA	NA	NA	NA	NA	NA	0.001	0.065	0.225	GM0	A	NA
8	17935642	rs7833836	NM_177924,ASAH1	NM_001127505,ASAH1	NM_004315,ASAH1	ENST00000417108,ENSG00000104763	ENST00000262097,ENSG00000104763	ENST00000381733,ENSG00000104763	ENST00000520781,ENSG00000104763	ENST00000314146,ENSG00000104763	ENST00000519468,ENSG00000104763	ENST00000523593,ENSG00000104763	ENST00000518087,ENSG00000104763	ENST00000520051,ENSG00000104763	MCV-3	NA	NA	NA	Cep3-primary,2.727	Cutl1_3494,2.3594	Cutl1_3494,2.4865	Cutl1_3494,1.6624	Hmbox1_2674,1.3104	NA	NA	NA	NA	NA	NA	0.011	0.250	0.999	GM0	A	NA	NA	NA
8	17936029	rs13282042	NM_177924,ASAH1	NM_001127505,ASAH1	NM_004315,ASAH1	ENST00000417108,ENSG00000104763	ENST00000262097,ENSG00000104763	ENST00000381733,ENSG00000104763	ENST00000520781,ENSG00000104763	ENST00000314146,ENSG00000104763	ENST00000519468,ENSG00000104763	ENST00000523593,ENSG00000104763	ENST00000518087,ENSG00000104763	ENST00000520051,ENSG00000104763	NA	NA	NA	NA	Hoxd11_3873,4.4759	Leu3-primary,1.9523	Oct-1,1.7437	Oct-1,3.6138	Pou2f2_3748,1.7327	NA	NA	NA	NA	NA	NA	0.040	0.802	2.4	GM0	A	NA	NA	NA
8	17937313	rs7824280	NM_177924,ASAH1	NM_001127505,ASAH1	NM_004315,ASAH1	ENST00000417108,ENSG00000104763	ENST00000262097,ENSG00000104763	ENST00000381733,ENSG00000104763	ENST00000520781,ENSG00000104763	ENST00000314146,ENSG00000104763	ENST00000519468,ENSG00000104763	ENST00000523593,ENSG00000104763	ENST00000518087,ENSG00000104763	ENST00000520051,ENSG00000104763	MCV-2	NA	NA	NA	LM119,15.2266	LM146,8.6707	LM170,5.4875	TBP,24.7092	TATA-Box,24.7092	NA	NA	NA	NA	NA	NA	0.000	-0.593	-2.22	R4	G	NA	NA	NA
8	17937530	rs11986226	NM_177924,ASAH1	NM_001127505,ASAH1	NM_004315,ASAH1	ENST00000417108,ENSG00000104763	ENST00000262097,ENSG00000104763	ENST00000381733,ENSG00000104763	ENST00000520781,ENSG00000104763	ENST00000314146,ENSG00000104763	ENST00000519468,ENSG00000104763	ENST00000523593,ENSG00000104763	ENST00000518087,ENSG00000104763	ENST00000520051,ENSG00000104763	MCV-1	NA	NA	NA	LM149,1.5412	Hand1-Tcfe2a,2.6377	GAANYNYGACNY,1.6148	NA	NA	NA	NA	NA	NA	0.000	-1.053	-3.92	GM0	G	NA	NA	NA	0.330	0.230

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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