PedAM

Pediatric Disease Annotations & Medicines


	mannosidosis

Disease ID	1251
Disease	mannosidosis
Definition	An autosomal recessive lysosomal storage disease characterized by deficient activity of the enzyme alpha-D-mannosidase. There is a wide range of signs and symptoms including hepatomegaly, splenomegaly, hearing loss, respiratory infections, mental retardation, skeletal abnormalities, leveled nasal bridge and protruding forehead.
Synonym	alpha mannosidase b deficiency alpha mannosidase deficiency alpha mannosidosis alpha-d-mannosidase deficiencies, lysosomal alpha-d-mannosidase deficiency, lysosomal alpha-d-mannosidosis alpha-mannosidase b deficiency alpha-mannosidase deficiencies alpha-mannosidase deficiency alpha-mannosidoses alpha-mannosidosis alpha-mannosidosis [disease/finding] alpha-mannosidosis, type i deficiencies, alpha-mannosidase deficiencies, lysosomal alpha-d-mannosidase deficiency of alpha-mannosidase deficiency of alpha-mannosidase (disorder) deficiency, alpha-mannosidase deficiency, lysosomal alpha-d-mannosidase lysosomal alpha b mannosidosis lysosomal alpha d mannosidase deficiency lysosomal alpha-d-mannosidase deficiencies lysosomal alpha-d-mannosidase deficiency mannosidosis, alpha b lysosomal mannosidosis, alpha b, lysosomal mansa
Orphanet	ORPHANET:61
OMIM	OMIM:248500
DOID	DOID:3413 DOID:3414
UMLS	C0024748
MeSH	D008363
SNOMED-CT	SNOMEDCT_US_2016_09_01:124466001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0024748 \| alpha-mannosidase deficiency \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) MAN2B1 \| 4125 \| CLINVAR;CTD_human;UNIPROT;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:21) 4074 \| M6PR \| DISEASES 410 \| ARSA \| DISEASES 11045 \| UPK1A \| DISEASES 4669 \| NAGLU \| DISEASES 4126 \| MANBA \| DISEASES 3337 \| DNAJB1 \| DISEASES 4124 \| MAN2A1 \| DISEASES 57192 \| MCOLN1 \| DISEASES 175 \| AGA \| DISEASES 4123 \| MAN2C1 \| DISEASES 3073 \| HEXA \| DISEASES 26060 \| APPL1 \| DISEASES 2548 \| GAA \| DISEASES 3052 \| HCCS \| DISEASES 3916 \| LAMP1 \| DISEASES 1508 \| CTSB \| DISEASES 26503 \| SLC17A5 \| DISEASES 60 \| ACTB \| DISEASES 5476 \| CTSA \| DISEASES 4125 \| MAN2B1 \| DISEASES 57000 \| GSN-AS1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1251
Disease	mannosidosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1251
Disease	mannosidosis
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:12)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121434331	NA	4125	MAN2B1	umls:C0024748	CLINVAR	NA	0.443528744	NA	MAN2B1	19	12649418	G	A
rs121434332	NA	4125	MAN2B1	umls:C0024748	CLINVAR	NA	0.443528744	NA	MAN2B1	19	12652376	G	A
rs121434333	NA	4125	MAN2B1	umls:C0024748	CLINVAR	NA	0.443528744	NA	MAN2B1	19	12658470	G	C
rs387906261	NA	4125	MAN2B1	umls:C0024748	CLINVAR	NA	0.443528744	NA	MAN2B1;WDR83	19	12665750	T	G,A
rs775200333	NA	4125	MAN2B1	umls:C0024748	CLINVAR	NA	0.443528744	NA	MAN2B1	19	12657482	G	A,C,T
rs786204715	NA	4125	MAN2B1	umls:C0024748	CLINVAR	NA	0.443528744	NA	MAN2B1	19	12658428	C	T
rs797044680	NA	4125	MAN2B1	umls:C0024748	CLINVAR	NA	0.443528744	NA	MAN2B1	19	12649169	-	C
rs80338677	NA	4125	MAN2B1	umls:C0024748	CLINVAR	NA	0.443528744	NA	MAN2B1	19	12655693	C	G
rs80338678	NA	4125	MAN2B1	umls:C0024748	CLINVAR	NA	0.443528744	NA	MAN2B1	19	12652462	T	C
rs80338679	NA	4125	MAN2B1	umls:C0024748	CLINVAR	NA	0.443528744	NA	MAN2B1	19	12650103	C	T
rs80338680	NA	4125	MAN2B1	umls:C0024748	CLINVAR	NA	0.443528744	NA	MAN2B1	19	12649932	G	T,A
rs80338681	NA	4125	MAN2B1	umls:C0024748	CLINVAR	NA	0.443528744	NA	MAN2B1	19	12649146	A	G

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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