MCID: ACT087
MIFTS: 35

Acth Deficiency malady

Endocrine diseases category

Summaries for Acth Deficiency

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MalaCards: Acth Deficiency, also known as adrenocorticotropic hormone deficiency, is related to hypothyroidism and hypoglycemia. An important gene associated with Acth Deficiency is TBX19 (T-box 19), and among its related pathways are Glucocorticoid Pathway (HPA Axis), Pharmacodynamics and Syndecan-3-mediated signaling events. The compounds acth 1-24 and ptx1 have been mentioned in the context of this disorder. Related mouse phenotypes are endocrine/exocrine gland and adipose tissue.

Aliases & Classifications for Acth Deficiency

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20GeneTests, 22GTR, 44Novoseek, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine diseases


Aliases & Descriptions:

acth deficiency 20 22 44
adrenocorticotropic hormone deficiency 60


Related Diseases for Acth Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Acth Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 125)
idRelated DiseaseScoreTop Affiliating Genes
1hypothyroidism30.6GH1, HESX1, LHX3, PRL, PCSK1, POMC
2hypoglycemia30.5CRH, GH1, PRL, TRH, POMC
3thyroiditis30.3POMC, TRH
4hyperprolactinemia30.3CRH, GH1, PRL, TRH, POMC
5diabetes mellitus30.3HSD11B1, GH1, NR3C2, POMC, MC4R
6hypertension30.1HSD11B1, CRH, NR3C2, POMC
7hypopituitarism30.1POMC, POU1F1, TRH, PROP1, PRL, GH1
8thyrotoxicosis29.9TRH
9gynecomastia29.9PRL, NR3C2
10addison's disease29.9CRH, POMC, PCSK1
11acromegaly29.9GH1, PRL
12dwarfism29.9GH1, PROP1, POU1F1
13cushing's syndrome29.9POMC, NR3C2, GH1, CRH
14panhypopituitarism29.9GH1, HESX1, LHX3, PRL, PROP1, POMC
15obesity29.8HSD11B1, HESX1, CRH, GH1, PROP1, NR3C2
16isolated acth deficiency10.4
17thyroid crisis10.2
18common variable immunodeficiency10.2
19hepatitis10.1
20adrenocorticotropic hormone deficiency10.1
21late-onset isolated acth deficiency10.1
22fibromyalgia10.0CRH
23hypogonadotropism10.0PRL
24seasonal affective disorder10.0CRH
25carney complex10.0POMC
26anovulation10.0PRL
27cocaine dependence10.0POMC
28bulimia nervosa10.0MC4R
29anxiety disorder10.0CRH
30substance abuse10.0CRH
31morbid obesity10.0MC4R
32dementia10.0TRH
33infertility10.0PRL
34irritable bowel syndrome10.0CRH
35adrenal carcinoma10.0POMC
36obesity with impaired prohormone processing10.0PCSK1
37chronic fatigue syndrome10.0POMC, CRH
38hyperthyroxinemia10.0TRH
39pituitary cancer10.0POMC, PRL
40euthyroid sick syndrome10.0TRH
41exophthalmos10.0TRH, PITX1
42neurogenic diabetes insipidus10.0POMC, PRL
43infantile epileptic encephalopathy10.0POMC, CRH
44endogenous depression10.0CRH, TRH
45panic disorder10.0POMC, CRH
46gastrinoma10.0GH1
47schizophrenia10.0TRH, PRL
48nelson syndrome10.0CRH, PRL, POMC
49sheehan syndrome10.0CRH, PRL, POMC
50goiter10.0TRH

Graphical network of the top 20 diseases related to Acth Deficiency:



Diseases related to acth deficiency

Clinical Features for Acth Deficiency

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Drugs & Therapeutics for Acth Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Acth Deficiency

Drug clinical trials:

Search ClinicalTrials for Acth Deficiency

Search NIH Clinical Center for Acth Deficiency

Search CenterWatch for Acth Deficiency

Genetic Tests for Acth Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Acth Deficiency:

id Genetic test Affiliating Genes
1 Acth Deficiency20 22 TBX19

Anatomical Context for Acth Deficiency

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Animal Models for Acth Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Acth Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.7PCSK1, POU1F1, PROP1, HESX1, LHX3
2MP:00053758.3HSD11B1, PITX1, GH1, POMC, PCSK1, MC4R
3MP:00053977.6CRH, NR3C2, POU1F1, POMC, PCSK1, MC4R
4MP:00053897.5LHX3, GH1, PRL, PROP1, TBX19, POU1F1
5MP:00053867.0HSD11B1, CRH, PRL, PROP1, NR3C2, POMC
6MP:00107686.5LHX3, HESX1, PITX1, PROP1, NR3C2, POU1F1
7MP:00053785.2HSD11B1, LHX3, PITX1, CRH, GH1, PROP1
8MP:00053765.0PROP1, PRL, GH1, CRH, LHX3, HSD11B1
9MP:00036314.9GH1, CRH, PITX1, HESX1, LHX3, HSD11B1

Publications for Acth Deficiency

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Genetic Variations for Acth Deficiency

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Expression for genes affiliated with Acth Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Acth Deficiency

Search GEO for disease gene expression data for Acth Deficiency.

Pathways for genes affiliated with Acth Deficiency

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Sources:
49PharmGKB, 37NCBI BioSystems Database, 53Reactome, 29KEGG
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Compounds for genes affiliated with Acth Deficiency

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44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Acth Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 109)
idCompoundScoreTop Affiliating Genes
1acth 1-244410.0POMC, PRL, CRH
2ptx1449.8PITX1, POMC, POU1F1
3alpha msh449.8CRH, POMC, MC4R
4hexarelin44 2810.6POMC, PRL, GH1, CRH
5fenfluramine28 44 1111.6POMC, TRH, CRH, PRL
6naltrexone44 49 28 1112.6CRH, GH1, PRL, POMC
7forskolin44 49 1111.6POMC, POU1F1, CRH, HSD11B1
85-hydroxytryptophan449.5CRH, PRL, GH1
9bromocriptine28 44 1111.5POMC, POU1F1, TRH, PRL
10dehydroepiandrosterone sulfate449.5POMC, GH1, PRL, CRH
11mirtazapine49 44 1111.5POMC, CRH, PRL
12betamethasone44 1110.4CRH, POMC, GH1
13pyridostigmine44 1110.4TRH, CRH, GH1, PRL
14sulpiride44 28 1111.3CRH, TRH, PRL, GH1
1511 deoxycortisol449.3CRH, PRL, NR3C2, POMC
16ghrp449.3TRH, PRL, GH1
17opiate449.3CRH, PRL, GH1, MC4R, POMC
18cocaine44 1110.2PRL, CRH, TRH, POMC, MC4R
19metoclopramide44 1110.2GH1, PRL, TRH
20cortisol28 2410.2HSD11B1, POMC, NR3C2
21clonidine44 28 1111.1POMC, GH1, TRH, PRL
22androstenedione44 2410.1PRL, POMC, GH1, HSD11B1, CRH
23naloxone44 49 28 1112.1POMC, CRH, GH1, TRH, PRL
24octreotide44 59 28 1112.1GH1, TRH, POMC, PRL, CRH
25metyrapone59 44 1111.1HSD11B1, CRH, NR3C2, POMC
26thyroxine44 2410.0POMC, GH1, PRL, CRH, TRH
27mifepristone44 59 28 1111.8CRH, PRL, HSD11B1, NR3C2, POMC
28melatonin44 59 28 11 2412.8PCSK1, PRL, GH1, TRH
29haloperidol44 28 2 49 1112.6PRL, NR3C2, TRH, MC4R, POMC
30cortisone44 249.6POMC, NR3C2, HSD11B1, CRH, GH1
3111beta-hydroxysteroid448.6HSD11B1, GH1, NR3C2, POMC, CRH
32dhea448.4NR3C2, HSD11B1, CRH, POMC, PRL, GH1
33norepinephrine44 11 2410.2CRH, GH1, NR3C2, PRL, POMC, TRH
34adenylate448.2MC4R, POMC, ASS1, PCSK1, TRH, GH1
35triiodothyronine448.1POMC, GH1, PRL, TRH, NR3C2, HSD11B1
36corticosterone44 59 2410.1CRH, GH1, PRL, NR3C2, POMC, MC4R
37hydrocortisone44 2 59 1110.9TRH, HSD11B1, GH1, CRH, PRL, NR3C2
38estradiol44 11 249.8TRH, NR3C2, PRL, GH1, CRH, HSD11B1
39dopamine44 28 11 2410.6CRH, GH1, PRL, NR3C2, MC4R, POMC
40ribonucleic acid447.6PRL, PCSK1, POMC, GH1, POU1F1, HSD11B1
41testosterone44 59 11 2410.5HSD11B1, CRH, NR3C2, PRL, GH1, PROP1
42alanine447.5HSD11B1, POU1F1, CRH, ASS1, MC4R, GH1
43steroid447.4HSD11B1, GH1, MC4R, POMC, POU1F1, NR3C2
44gnrh447.3TRH, POMC, PCSK1, PROP1, PRL, GH1
45glucose447.2TRH, PCSK1, POMC, MC4R, NR3C2, PRL
46dexamethasone44 49 28 1110.1HSD11B1, NR3C2, GH1, PRL, ASS1, POMC
47progesterone44 59 28 11 2411.1GH1, CRH, HSD11B1, NR3C2, TRH, POU1F1
48estrogen447.1POU1F1, PRL, POMC, TRH, GH1, CRH
49arginine446.9POMC, POU1F1, TRH, ASS1, PCSK1, NR3C2
50acth446.4NR3C2, PRL, GH1, CRH, HESX1, HSD11B1

GO Terms for genes affiliated with Acth Deficiency

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16Gene Ontology
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Cellular components related to Acth Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secretory granule lumenGO:0347749.8PCSK1, POMC
2secretory granuleGO:0301419.2POMC, TRH, PRL

Biological processes related to Acth Deficiency according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1parturitionGO:00756710.1PRL, CRH
2glucocorticoid biosynthetic processGO:0067049.9CRH, HSD11B1
3peptide hormone processingGO:0164869.7POMC, PCSK1
4positive regulation of JAK-STAT cascadeGO:0464279.7PRL, GH1
5JAK-STAT cascade involved in growth hormone signaling pathwayGO:0603979.7PRL, GH1
6response to ethanolGO:0454719.6CRH, PRL, TRH
7pituitary gland developmentGO:0219839.6TBX19, PITX1, LHX3
8response to corticosterone stimulusGO:0514129.4TRH, CRH
9positive regulation of transcription from RNA polymerase II promoterGO:0459448.7LHX3, PITX1, PROP1, TBX19, POU1F1, POMC

Molecular functions related to Acth Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuropeptide hormone activityGO:0051849.7TRH, CRH
2prolactin receptor bindingGO:0051489.6PRL, GH1
3hormone activityGO:0051799.3POMC, PRL, GH1, CRH
4sequence-specific DNA bindingGO:0435657.8LHX3, HESX1, PITX1, NR3C2, POU1F1
5sequence-specific DNA binding transcription factor activityGO:0037007.6LHX3, HESX1, PITX1, PROP1, NR3C2, TBX19

Products for genes affiliated with Acth Deficiency

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Sources for Acth Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet