pyruvate decarboxylase deficiency

ପ୍ରସଙ୍ଗଟିଏ ଗଢ଼ନ୍ତୁ

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carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex

External resources

WikiProjectMed ID	Pyruvate dehydrogenase deficiency
Genetics Home Reference Conditions ID	pyruvate-dehydrogenase-deficiency
Experimental Factor Ontology ID	0007459^[୧]
MeSH descriptor ID	D015325^[୨] subject named as: Pyruvate Dehydrogenase Complex Deficiency Disease
Mondo ID	MONDO_0010717
Orphanet ID	79243^[୨]
eMedicine ID	948360
KEGG ID	H00072
UMLS CUI	C1839413^[୩] mapping relation type: close match C0034345^[୨]
DiseasesDB	30060
GARD rare disease ID	4620^[୨] 7513^[୨]
UniProt disease ID	DI-02238
ICD-11 ID (Foundation)	1124597954
OMIM ID	245348^[୨] 245349^[୨] 608782^[୨] 614111^[୨] 312170^[୨]
Microsoft Academic ID	2780502208
ICD-10-CM	E74.4^[୨]^[୩]
ICD-11 ID (MMS)	5C53.02 subject named as: Pyruvate dehydrogenase complex deficiency
Disease Ontology ID	DOID:3649^[୪]
MeSH tree code	C10.228.140.163.100.750 C10.597.606.360.455.875 C16.320.322.500.875 C16.320.400.525.875 C16.320.565.189.750 C16.320.565.202.810.766 C18.452.132.100.750 C18.452.648.189.750 C18.452.648.202.810.766 C18.452.660.710

ଦୃଷ୍ଟାନ୍ତ

ଭୃଣ ତିଆରି ସମୟରେ ବିକାଶ ତୃଟି^[୩]

rare disease

class of disease

ଏହାର ମୁଖ୍ୟଶ୍ରେଣୀ

carbohydrate metabolic disorder^[୪]

ଚିକିତ୍ସା ଶ୍ରେଣୀ

endocrinology

genetic association

PDHA1^[୫]^[୬]^[୭]

PDHB^[୮]

DLAT^[୯]

PDP1^[୧୦]

PDX1^[୧୧]

on focus list of Wikimedia project

ଉଇକିପିଡ଼ିଆ:ଉଇକିପ୍ରକଳ୍ପ ଚିକିତ୍ସାବିଜ୍ଞାନ

ICD-9-CM

277.6^[୩]

NCI Thesaurus ID

C103968^[୨]

exact match

http://purl.obolibrary.org/obo/DOID_3649^[୪]

http://identifiers.org/doid/DOID:3649^[୧୨]

http://www.orpha.net/ORDO/Orphanet_765

http://www.orpha.net/ORDO/Orphanet_79243

ଆଧାର

↑ inferred by common DOID mappings on source and on Wikidata
↑ ^୨.୦୦ ^୨.୦୧ ^୨.୦୨ ^୨.୦୩ ^୨.୦୪ ^୨.୦୫ ^୨.୦୬ ^୨.୦୭ ^୨.୦୮ ^୨.୦୯ ^୨.୧୦ ^୨.୧୧ Disease Ontology, ୧୫ ମଇ 2019, DOID:3649
↑ ^୩.୦ ^୩.୧ ^୩.୨ ^୩.୩ Monarch Disease Ontology release 2018-06-29, ୨୮ ଜୁଲାଇ 2018, MONDO_0010717
↑ ^୪.୦ ^୪.୧ ^୪.୨ Disease Ontology, ୩୦ ନଭେମ୍ବର 2020, DOID:3649
↑ P08559, ୧୩ ଅଗଷ୍ଟ 2019, UniProt
↑ Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift
↑ Open Targets Platform, ୨୪ ଅଗଷ୍ଟ 2023, inferred from an Open Targets association score over 0.7, https://platform.opentargets.org/evidence/ENSG00000131828/MONDO_0010717
↑ Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency
↑ Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency
↑ Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation
↑ Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis
↑ Identifiers.org, https://registry.identifiers.org/registry/doid

[re1e1f026-1] rred by common DOID mappings on source and on Wikidata

[r93dc2a3a-2] ୨.୦୦ ^୨.୦୧ ^୨.୦୨ ^୨.୦୩ ^୨.୦୪ ^୨.୦୫ ^୨.୦୬ ^୨.୦୭ ^୨.୦୮ ^୨.୦୯ ^୨.୧୦ ^୨.୧୧ Disease Ontology, ୧୫ ମଇ 2019, DOID:3649

[rd7841720-3] ୩.୦ ^୩.୧ ^୩.୨ ^୩.୩ Monarch Disease Ontology release 2018-06-29, ୨୮ ଜୁଲାଇ 2018, MONDO_0010717

[rd84ce4ad-4] ୪.୦ ^୪.୧ ^୪.୨ Disease Ontology, ୩୦ ନଭେମ୍ବର 2020, DOID:3649

[r1efcbb8b-5] P08559, ୧୩ ଅଗଷ୍ଟ 2019, UniProt

[rcf7b983c-6] Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift

[r81eb0d57-7] Open Targets Platform, ୨୪ ଅଗଷ୍ଟ 2023, inferred from an Open Targets association score over 0.7, https://platform.opentargets.org/evidence/ENSG00000131828/MONDO_0010717

[rf93f676b-8] Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency

[rc21906f8-9] Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency

[rf80e4fed-10] Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation

[r291ac71f-11] Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis

[raccfa3a2-12] Identifiers.org, https://registry.identifiers.org/registry/doid

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