About: transcobalamin II deficiency

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About: transcobalamin II deficiency Goto Sponge NotDistinct Permalink

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vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII

Attributes	Values
rdf:type	Item
description	Krankheit (de) хвороба (uk) vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII (en)
exact match	wds:Q18553496-BE740BAB-B5EB-4F4D-9BA9-8724BF952494 wds:Q18553496-C74CF5BB-E9C0-40F0-9641-E35DD45E8754 wds:Q18553496-E53BE851-A4D3-4374-A9CE-5C9E8B7A65A5
exact match	http://purl.obolibrary.org/obo/DOID_0050818 http://identifiers.org/doid/DOID:0050818 http://www.orpha.net/ORDO/Orphanet_859
Mondo ID	wds:Q18553496-CCE71310-2AFB-4199-8A38-6684757F10C4
Disease Ontology ID	wds:Q18553496-8704F65D-89A4-4F84-B5B5-0C443B640193
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010149
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0050818
Mondo ID	MONDO_0010149
Disease Ontology ID	DOID:0050818
rdfs:label	Déficit en transcobalamine 2 (fr) transcobalamin II deficiency (en)
skos:prefLabel	Déficit en transcobalamine 2 (fr) transcobalamin II deficiency (en)
name	Déficit en transcobalamine 2 (fr) transcobalamin II deficiency (en)
instance of	wds:Q18553496-32C1125B-7290-4FA8-BF12-139AA1CFE415 wds:Q18553496-7E55984A-3C6A-475C-AA3D-13E39FC55EF4
instance of	class of disease rare disease
subclass of	wds:Q18553496-19A054B8-F915-4032-8954-CDE882C1AF86 wds:Q18553496-E5DDC5A5-DD1F-4E92-9073-88F9EBA173D3 wds:Q18553496-F49ED7DB-9D17-441A-B5DA-0414B83CD7D2 wds:Q18553496-F9EDE95F-F3AA-429F-BF35-087E00446941
subclass of	vitamin B12 deficiency vitamin B12 deficiency anemia syndrome with combined immunodeficiency inborn disorder of cobalamin metabolism and transport
KEGG ID	wds:Q18553496-EADB96EA-96A4-4388-816C-56A730B48B5F
KEGG ID	http://www.kegg.jp/entry/H01190
KEGG ID	H01190
UniProt disease ID	wds:Q18553496-6290705a-4041-6fb0-5e4f-a72ea371d3f2
Orphanet ID	wds:Q18553496-e2550397-43cf-7d54-e398-2d29d0fb23a8
genetic association	wds:Q18553496-97614E63-8F79-4736-A71D-5560C8D6A531
ICD-10-CM	wds:Q18553496-2FC239A6-E22A-4C51-9E72-B35C269D0FC0
GARD rare disease ID	wds:Q18553496-29798821-E9BB-4806-8B4E-9BD4BD4FB24B
OMIM ID	wds:Q18553496-3ADD3F44-00C3-401F-A229-6C1DBC0E78E6
UniProt disease ID	DI-02378
Orphanet ID	859
genetic association	TCN2
ICD-10-CM	D51.2
GARD rare disease ID	12338
OMIM ID	275350
skos:altLabel	Inherited deficiency of transcobalamin (en) TCN2 deficiency (en) TRANSCOBALAMIN II DEFICIENCY (en) Tc 2 Deficiency (en) Transcobalamin deficiency (en)
NCI Thesaurus ID	wds:Q18553496-2b513762-41f8-fa12-a7b8-a9173d815e38
UMLS CUI	wds:Q18553496-28B3D38A-4983-4EA5-BB74-6190680D6ACB wds:Q18553496-9D42B0DC-640E-46FD-8FC9-49CBF99C4BD7
on focus list of Wikimedia project	wds:Q18553496-3B1278B8-4B7E-49D5-A37A-F49057E3FDF5
NCI Thesaurus ID	C142806
UMLS CUI	C0342701 C1420653
on focus list of Wikimedia project	WikiProject Medicine
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q18553496
is main subject of	Hereditary transcobalamin II deficiency: clinical findings in a new family Neonatal Megaloblastic Anemia Due to Inherited Transcobalamin II Deficiency in Two Siblings Transcobalamin II deficiency: case report and review of the literature. Transcobalamin II deficiency: long-term follow-up of two cases Congenital transcobalamin II deficiency presenting atypically with a low serum cobalamin level: studies demonstrating the coexistence of a circulating transcobalamin I (R binder) complex Hereditary transcobalamin II deficiency: the role of transcobalamin II in vitamin B 12 -mediated reactions Transcobalamin II deficiency at birth. Nonsense mutations in human transcobalamin II deficiency Congenital transcobalamin II deficiency due to errors in RNA editing Transcobalamin II deficiency associated with unusual bone marrow findings and chromosomal abnormalities Transcobalamin II Deficiency in Four Cases with Novel Mutations Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin Uptake and metabolism of free cyanocobalamin by cultured human fibroblasts from controls and a patient with transcobalamin II deficiency Transcobalamin II deficiency with methylmalonic aciduria in three sisters Hereditary transcobalamin II deficiency: a 22 year follow up Different Presentations of Patients with Transcobalamin II Deficiency: A Single-Center Experience from Turkey Transcobalamin II deficiency and oral cobalamin therapy Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation Congenital Transcobalamin II Deficiency: A Rare Entity with a Broad Differential. Transcobalamin II deficiency in infancy and the diagnostic value of serum B12 binders Hereditary partial transcobalamin II deficiency with neurologic, mental and hematologic abnormalities in children and adults Granulocyte dysfunction in transcobalamin II deficiency responding to leucovorin or hydroxocobalamin-plasma transfusion Defective adenosylcobalamin synthesis in a case of transcobalamin II deficiency Vacuolization of Myeloid Lineage and Multilineage Dysplasia in a Case of Transcobalamin II Deficiency [Hereditary transcobalamin II deficiency] Homozygous transcobalamin II deficiency maintained on oral hydroxocobalamin. Hereditary transcobalamin II deficiency presenting as red cell hypoplasia Hereditary transcobalamin II deficiency with subnormal serum cobalamin levels [Hereditary transcobalamin II deficiency] Novel Mutation in an Indian Patient with Transcobalamin II Deficiency Granulocyte dysfunction in transcobalamin II deficiency Correction: Congenital Transcobalamin II Deficiency: A Rare Entity with a Broad Differential Favorable long-term outcome of a patient with transcobalamin II deficiency Cytogenetic findings of a child with transcobalamin II deficiency Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature
is main subject of	wds:Q56689441-F553D9C8-0D22-4B21-8E76-BC4B748BE051 wds:Q57971919-621ECF81-11AB-4FDE-8974-F95FC7041EFB

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