Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Human Phenotype Ontology

Grandparent Node:
Abnormality of metabolism/homeostasis (HP:0001939)

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Parent Node:
Abnormal circulating protein concentration (HP:0010876)

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..Starting node
..Abnormal insulin like growth factor binding protein acid labile subunit level (HP:0031034)

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Term ID:

31034

Name:

Abnormal insulin like growth factor binding protein acid labile subunit level

Synonym:

Definition:

A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier.

Comments:

Reference:

Genes and Diseases:

Child Nodes:

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Reduced insulin like growth factor binding protein acid labile subunit level (HP:0045046)

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Sister Nodes:

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Abnormal B-type natriuretic peptide level (HP:0031138)

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Abnormal circulating albumin concentration (HP:0012116)

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Abnormal circulating apolipoprotein concentration (HP:0025201)

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Abnormal circulating beta globulin level (HP:0025465)

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Abnormal circulating beta-C-terminal telopeptide concentration (HP:0031424)

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Abnormal circulating thyroglobulin level (HP:0025483)

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Abnormal hepcidin level (HP:0031875)

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Abnormal levels of alpha-fetoprotein (HP:0045056)

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Abnormal retinol-binding protein level (HP:0031031)

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Abnormality of circulating enzyme level (HP:0011021)

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Abnormality of the kinin-kallikrein system (HP:0005559)

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Decreased prealbumin level (HP:0031085)

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Elevated carcinoembryonic antigen level (HP:0031029)

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Elevated carcinoma antigen 125 level (HP:0031030)

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Elevated circulating C-reactive protein concentration (HP:0011227)

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Elevated prostate-specific antigen level (HP:0025020)

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Hyperpepsinogenemia I (HP:0003238)

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Hyperproteinemia (HP:0002152)

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Hypoproteinemia (HP:0003075)

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Increased circulating thyroxine-binding globulin level (HP:0031222)

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Reduced growth-hormone binding protein level (HP:0031036)

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Reduced insulin-like factor 3 level (HP:0031037)

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Reduced sex -hormone binding protein level (HP:0031419)

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Reduced thyroxin-binding globulin (HP:0012509)

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Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	HGMD variants	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031034	HP:0031034	Abnormal insulin like growth factor binding protein acid labile subunit level	0	IGFALS CL E G H	3483	5468	OMIM:615961	ACID-LABILE SUBUNIT DEFICIENCY; ACLSD				53
HP:0031034	HP:0031034	Abnormal insulin like growth factor binding protein acid labile subunit level	0	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA				2
HP:0031034	HP:0045046	Reduced insulin like growth factor binding protein acid labile subunit concentration	1	IGFALS CL E G H	3483	5468	OMIM:615961	ACID-LABILE SUBUNIT DEFICIENCY; ACLSD				53
HP:0031034	HP:0034184	Increased insulin like growth factor binding protein acid labile subunit concentration	1	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA				2

Genes (2) :IGFALS PAPPA2

Diseases (2) :OMIM:615961 OMIM:619489

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

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