Human Phenotype Ontology 
Grandparent Node:
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Abnormal respiratory system physiology (HP:0002795)help
Parent Node:
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Abnormality on pulmonary function testing (HP:0030878)help
..Starting node
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Abnormal DLCO (HP:0045049)help
Term ID: 45049
Name: Abnormal DLCO
Synonym: Abnormal diffusing capacity; Abnormal TLCO; Abnormal transfer factor of the lung for carbon monoxide
Definition: An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs.
Comments:
Reference: HP:0045049
Genes and Diseases:
 
       Child Nodes:
........expandIncreased DLCO (HP:0045050) help
........expandDecreased DLCO (HP:0045051) help

 Sister Nodes: 
..expandobsolete Restrictive deficit on pulmonary function testing (HP:0002111) help
..expandReduced FEV1/FVC ratio (HP:0030877) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0045049HP:0045049Abnormal DLCO0ABCC6 CL E G H36857OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE415
HP:0045049HP:0045049Abnormal DLCO0COPA CL E G H13142230OMIM:616414AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK5
HP:0045049HP:0045049Abnormal DLCO0CSF2RA CL E G H14382435OMIM:300770SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP415
HP:0045049HP:0045049Abnormal DLCO0EIF2AK4 CL E G H44027519687ORPHA:199241Pulmonary capillary hemangiomatosis40
HP:0045049HP:0045049Abnormal DLCO0EIF2AK4 CL E G H44027519687OMIM:234810PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD240
HP:0045049HP:0045049Abnormal DLCO0HLA-DRB1 CL E G H31234948ORPHA:747Autoimmune pulmonary alveolar proteinosis2
HP:0045049HP:0045049Abnormal DLCO0MUC5B CL E G H7278977516OMIM:178500Pulmonary fibrosis, idiopathic133
HP:0045049HP:0045049Abnormal DLCO0NDUFAF6 CL E G H13768228625OMIM:618913FANCONI RENOTUBULAR SYNDROME 5; FRTS539
HP:0045049HP:0045049Abnormal DLCO0PARN CL E G H50738609OMIM:616371PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT426
HP:0045049HP:0045049Abnormal DLCO0RTEL1 CL E G H5175015888OMIM:616373PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT377
HP:0045049HP:0045049Abnormal DLCO0SFTPA1 CL E G H65350910798OMIM:619611INTERSTITIAL LUNG DISEASE 1; ILD119
HP:0045049HP:0045049Abnormal DLCO0SFTPA2 CL E G H72923810799OMIM:178500Pulmonary fibrosis, idiopathic10
HP:0045049HP:0045049Abnormal DLCO0SFTPC CL E G H644010802OMIM:178500Pulmonary fibrosis, idiopathic33
HP:0045049HP:0045049Abnormal DLCO0SFTPC CL E G H644010802OMIM:610913Surfactant metabolism dysfunction, pulmonary, 233
HP:0045049HP:0045049Abnormal DLCO0SMPD1 CL E G H660911120OMIM:607616Niemann-pick disease, type B164
HP:0045049HP:0045049Abnormal DLCO0TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0045049HP:0045049Abnormal DLCO0TERT CL E G H701511730OMIM:178500Pulmonary fibrosis, idiopathic238
HP:0045049HP:0045049Abnormal DLCO0TINF2 CL E G H2627711824OMIM:613990Dyskeratosis congenita, autosomal dominant 360
HP:0045049HP:0045049Abnormal DLCO0XYLT1 CL E G H6413115516OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE14
HP:0045049HP:0045049Abnormal DLCO0XYLT2 CL E G H6413215517OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE5
HP:0045049HP:0045050Increased DLCO1 CL E G H
HP:0045049HP:0045051Decreased DLCO1ABCC6 CL E G H36857OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE415
HP:0045049HP:0045051Decreased DLCO1COPA CL E G H13142230OMIM:616414AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK5
HP:0045049HP:0045051Decreased DLCO1CSF2RA CL E G H14382435OMIM:300770SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP415
HP:0045049HP:0045051Decreased DLCO1EIF2AK4 CL E G H44027519687ORPHA:199241Pulmonary capillary hemangiomatosisHP:0040281 - Very frequent40
HP:0045049HP:0045051Decreased DLCO1EIF2AK4 CL E G H44027519687OMIM:234810PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD240
HP:0045049HP:0045051Decreased DLCO1HLA-DRB1 CL E G H31234948ORPHA:747Autoimmune pulmonary alveolar proteinosisHP:0040282 - Frequent2
HP:0045049HP:0045051Decreased DLCO1MUC5B CL E G H7278977516OMIM:178500Pulmonary fibrosis, idiopathic133
HP:0045049HP:0045051Decreased DLCO1NDUFAF6 CL E G H13768228625OMIM:618913FANCONI RENOTUBULAR SYNDROME 5; FRTS539
HP:0045049HP:0045051Decreased DLCO1PARN CL E G H50738609OMIM:616371PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT426
HP:0045049HP:0045051Decreased DLCO1RTEL1 CL E G H5175015888OMIM:616373PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT377
HP:0045049HP:0045051Decreased DLCO1SFTPA1 CL E G H65350910798OMIM:619611INTERSTITIAL LUNG DISEASE 1; ILD119
HP:0045049HP:0045051Decreased DLCO1SFTPA2 CL E G H72923810799OMIM:178500Pulmonary fibrosis, idiopathic10
HP:0045049HP:0045051Decreased DLCO1SFTPC CL E G H644010802OMIM:178500Pulmonary fibrosis, idiopathic33
HP:0045049HP:0045051Decreased DLCO1SFTPC CL E G H644010802OMIM:610913Surfactant metabolism dysfunction, pulmonary, 233
HP:0045049HP:0045051Decreased DLCO1SMPD1 CL E G H660911120OMIM:607616Niemann-pick disease, type B164
HP:0045049HP:0045051Decreased DLCO1TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0045049HP:0045051Decreased DLCO1TERT CL E G H701511730OMIM:178500Pulmonary fibrosis, idiopathic238
HP:0045049HP:0045051Decreased DLCO1TINF2 CL E G H2627711824OMIM:613990Dyskeratosis congenita, autosomal dominant 360
HP:0045049HP:0045051Decreased DLCO1XYLT1 CL E G H6413115516OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE14
HP:0045049HP:0045051Decreased DLCO1XYLT2 CL E G H6413215517OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE5


Genes (17) :ABCC6 COPA CSF2RA EIF2AK4 HLA-DRB1 MUC5B NDUFAF6 PARN RTEL1 SFTPA1 SFTPA2 SFTPC SMPD1 TERT TINF2 XYLT1 XYLT2

Diseases (15) :OMIM:264800 OMIM:616414 OMIM:300770 ORPHA:199241 OMIM:234810 ORPHA:747 OMIM:178500 OMIM:618913 OMIM:616371 OMIM:616373 OMIM:619611 OMIM:610913 OMIM:607616 OMIM:614742 OMIM:613990
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.