PedAM

Pediatric Disease Annotations & Medicines


	fucosidosis

Disease ID	291
Disease	fucosidosis
Definition	An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)
Synonym	a-fucosidase deficiency alpha fucosidase defic dis alpha fucosidase deficiency alpha fucosidase deficiency disease alpha l fucosidase defic dis alpha l fucosidase deficiency disease alpha-fucosidase deficiency alpha-fucosidase deficiency disease alpha-fucosidase deficiency diseases alpha-l-fucosidase deficiency alpha-l-fucosidase deficiency disease alpha-l-fucosidase deficiency diseases defic dis alpha fucosidase defic dis alpha l fucosidase deficiency disease, alpha fucosidase deficiency disease, alpha l fucosidase deficiency disease, alpha-fucosidase deficiency disease, alpha-l-fucosidase deficiency disease, fucosidase deficiency diseases, alpha-fucosidase deficiency diseases, alpha-l-fucosidase deficiency diseases, fucosidase disease, alpha-fucosidase deficiency disease, alpha-l-fucosidase deficiency disease, fucosidase deficiency diseases, alpha-fucosidase deficiency diseases, alpha-l-fucosidase deficiency diseases, fucosidase deficiency fucosidase defic dis fucosidase deficiency fucosidase deficiency disease fucosidase deficiency diseases fucosidosis (disorder) fucosidosis [disease/finding] fucosidosis, nos
Orphanet	ORPHANET:349
OMIM	OMIM:230000
DOID	DOID:14500
UMLS	C0016788
MeSH	D005645
SNOMED-CT	SNOMEDCT_US_2016_09_01:64716005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0085078 \| lysosomal storage disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) FUCA1 \| 2517 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:35) 4074 \| M6PR \| DISEASES 2519 \| FUCA2 \| DISEASES 3956 \| LGALS1 \| DISEASES 4669 \| NAGLU \| DISEASES 4057 \| LTF \| DISEASES 8452 \| CUL3 \| DISEASES 175 \| AGA \| DISEASES 1356 \| CP \| DISEASES 839 \| CASP6 \| DISEASES 3073 \| HEXA \| DISEASES 5354 \| PLP1 \| DISEASES 2548 \| GAA \| DISEASES 2720 \| GLB1 \| DISEASES 4118 \| MAL \| DISEASES 653499 \| LGALS7B \| DISEASES 3052 \| HCCS \| DISEASES 25834 \| MGAT4C \| DISEASES 3916 \| LAMP1 \| DISEASES 54681 \| P4HTM \| DISEASES 26503 \| SLC17A5 \| DISEASES 3482 \| IGF2R \| DISEASES 2526 \| FUT4 \| DISEASES 1201 \| CLN3 \| DISEASES 10724 \| MGEA5 \| DISEASES 93377 \| OPALIN \| DISEASES 5476 \| CTSA \| DISEASES 2517 \| FUCA1 \| DISEASES 1203 \| CLN5 \| DISEASES 3963 \| LGALS7 \| DISEASES 5268 \| SERPINB5 \| DISEASES 4099 \| MAG \| DISEASES 4668 \| NAGA \| DISEASES 3109 \| HLA-DMB \| DISEASES 2632 \| GBE1 \| DISEASES 80012 \| PHC3 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) FUCA1 \| 1p36.11

Disease ID	291
Disease	fucosidosis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:31) HP:0002808 \| Kyphosis HP:0008155 \| Mucopolysacchariduria HP:0010864 \| Intellectual disability, severe HP:0000164 \| Abnormality of the teeth HP:0001263 \| Global developmental delay HP:0005595 \| Generalized hyperkeratosis HP:0008430 \| Anterior beaking of lumbar vertebrae HP:0011220 \| Prominent forehead HP:0003199 \| Decreased muscle mass HP:0011276 \| Vascular skin abnormality HP:0001250 \| Seizures HP:0001626 \| Abnormality of the cardiovascular system HP:0007957 \| Corneal opacity HP:0000365 \| Hearing impairment HP:0000280 \| Coarse facial features HP:0001257 \| Spasticity HP:0001252 \| Muscular hypotonia HP:0007256 \| Abnormal pyramidal signs HP:0002240 \| Hepatomegaly HP:0001640 \| Cardiomegaly HP:0001063 \| Acrocyanosis HP:0001999 \| Abnormal facial shape HP:0001597 \| Abnormality of the nail HP:0100578 \| Lipoatrophy HP:0000975 \| Hyperhidrosis HP:0000821 \| Hypothyroidism HP:0002510 \| Spastic tetraplegia HP:0000943 \| Dysostosis multiplex HP:0005264 \| Abnormality of the gallbladder HP:0001508 \| Failure to thrive HP:0000248 \| Brachycephaly
Text Mined Phenotype	(Waiting for update.)

Disease ID	291
Disease	fucosidosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C2718077 \| alpha-l-fucosidase deficiency C0002986 \| angiokeratoma corporis diffusum
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:9)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs118204450	NA	2517	FUCA1	umls:C0016788	CLINVAR	NA	0.481357209	NA	FUCA1	1	23845837	G	A
rs587779398	NA	2517	FUCA1	umls:C0016788	CLINVAR	NA	0.481357209	NA	FUCA1	1	23865551	G	A
rs587779399	NA	2517	FUCA1	umls:C0016788	CLINVAR	NA	0.481357209	NA	FUCA1	1	23854539	G	A
rs794727774	NA	2517	FUCA1	umls:C0016788	CLINVAR	NA	0.481357209	NA	FUCA1	1	23848684	C	T
rs80358195	NA	2517	FUCA1	umls:C0016788	CLINVAR	NA	0.481357209	NA	FUCA1	1	23848671	C	G,A
rs80358196	NA	2517	FUCA1	umls:C0016788	CLINVAR	NA	0.481357209	NA	FUCA1	1	23868043	G	A
rs80358197	NA	2517	FUCA1	umls:C0016788	CLINVAR	NA	0.481357209	NA	FUCA1	1	23848649	C	T
rs80358198	NA	2517	FUCA1	umls:C0016788	CLINVAR	NA	0.481357209	NA	FUCA1	1	23863148	G	T,A
rs80358199	NA	2517	FUCA1	umls:C0016788	CLINVAR	NA	0.481357209	NA	FUCA1	1	23846105	A	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

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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