MCID: ISL005
MIFTS: 30

Isolated Acth Deficiency malady

Endocrine diseases category

Summaries for Isolated Acth Deficiency

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32MalaCards
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MalaCards: Isolated Acth Deficiency, also known as isolated adrenocorticotropic hormone deficiency, is related to hypothyroidism and diabetes mellitus. An important gene associated with Isolated Acth Deficiency is TBX19 (T-box 19), and among its related pathways are Glucocorticoid Pathway (HPA Axis), Pharmacodynamics and Development Leptin signaling via JAK/STAT and MAPK cascades. The compounds hcrh and pitressin have been mentioned in the context of this disorder. Related mouse phenotypes are integument and homeostasis/metabolism.

Aliases & Classifications for Isolated Acth Deficiency

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42NIH Rare Diseases, 60UMLS
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Classifications:

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


Aliases & Descriptions:

isolated acth deficiency 42
isolated adrenocorticotropic hormone deficiency 42
adrenocorticotropic hormone deficiency 60
congenital isolated acth deficiency 42
isolated corticotropin deficiency 60
acth deficiency, isolated 42


Related Diseases for Isolated Acth Deficiency

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

(show top 50)    (show all 98)
idRelated DiseaseScoreTop Affiliating Genes
1hypothyroidism30.8POMC, TRH, PRL
2diabetes mellitus30.6POMC
3hypoglycemia30.5POMC, TRH, PRL, CRH
4thyroiditis30.5TRH, POMC
5hyperprolactinemia30.4POMC, TRH, PRL, CRH
6acth deficiency30.2POMC, TBX19, PRL, CRH
7gynecomastia30.1PRL
8addison's disease30.1POMC, CRH
9hypopituitarism30.1CRH, PRL, TRH, POMC
10late-onset isolated acth deficiency10.2
11thyroid crisis10.2
12common variable immunodeficiency10.2
13factor viii deficiency10.1
14alopecia universalis10.1
15ulcerative colitis10.1
16alopecia10.1
17crohn's disease10.1
18focal segmental glomerulosclerosis10.1
19hypoglycemic coma10.1
20autoimmune thyroiditis10.1
21citrullinemia10.1
22autoimmune hepatitis10.1
23type 1 diabetes mellitus10.1
24hypercalcemia10.1
25frozen shoulder10.1
26focal glomerulosclerosis10.1
27graves' disease10.1
28hepatitis10.1
29thyrotoxicosis10.1
30adrenocorticotropic hormone deficiency10.1
31fibromyalgia10.0CRH
32seasonal affective disorder10.0CRH
33substance abuse10.0CRH
34irritable bowel syndrome10.0CRH
35anovulation10.0PRL
36hyperthyroxinemia10.0TRH
37euthyroid sick syndrome10.0TRH
38alcohol dependence10.0CRH
39infertility10.0PRL
40dementia10.0TRH
41leukemia10.0ASS1
42cocaine dependence10.0POMC
43anxiety disorder10.0CRH
44systemic lupus erythematosus10.0PRL
45adrenal carcinoma10.0POMC
46exophthalmos10.0PITX1, TRH
47carney complex10.0POMC
48prion disease10.0POMC
49hypogonadotropism10.0PRL
50hypothalamic disease10.0CRH, PRL

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



Diseases related to isolated acth deficiency

Clinical Features for Isolated Acth Deficiency

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Drugs & Therapeutics for Isolated Acth Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Isolated Acth Deficiency

Search CenterWatch for Isolated Acth Deficiency

Genetic Tests for Isolated Acth Deficiency

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Anatomical Context for Isolated Acth Deficiency

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Animal Models for Isolated Acth Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Isolated Acth Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.4CRH, PRL, TBX19, POMC, ASS1
2MP:00053767.2ASS1, POMC, TRH, TBX19, PRL, CRH
3MP:00036316.6ASS1, POMC, TRH, TBX19, PRL, CRH

Publications for Isolated Acth Deficiency

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Genetic Variations for Isolated Acth Deficiency

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Expression for genes affiliated with Isolated Acth Deficiency

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

Search GEO for disease gene expression data for Isolated Acth Deficiency.

Pathways for genes affiliated with Isolated Acth Deficiency

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Sources:
49PharmGKB, 12EMD Millipore, 53Reactome, 29KEGG
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Pathways related to Isolated Acth Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4POMC, CRH
2
Development Leptin signaling via JAK/STAT and MAPK cascades
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9.3POMC, TRH
3
Hide members
8.1POMC, TRH, PRL, CRH

Compounds for genes affiliated with Isolated Acth Deficiency

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

(show top 50)    (show all 78)
idCompoundScoreTop Affiliating Genes
1hcrh449.8POMC, CRH
2pitressin449.8POMC, CRH
3antalarmin44 2810.7POMC, CRH
4ptx1449.7PITX1, POMC
5proliferin449.5CRH, PRL
6alpha msh449.5CRH, POMC
7allopregnanolone449.5POMC, CRH
8flesinoxan449.4PRL, POMC
9ghrp449.3TRH, PRL
10ipsapirone44 2810.3POMC, PRL
11diazepam44 49 28 1112.3TRH, CRH, POMC
12domperidone44 28 1111.1PRL, TRH
13pyridostigmine44 1110.1PRL, CRH, TRH
14sulpiride44 28 1111.1PRL, TRH, CRH
155-hydroxytryptophan449.1CRH, PRL
16acth 1-24449.0PRL, POMC, CRH
1711 deoxycortisol449.0POMC, CRH, PRL
18hexarelin44 2810.0CRH, PRL, POMC
19mirtazapine49 44 1111.0POMC, CRH, PRL
20naltrexone44 49 28 1112.0CRH, PRL, POMC
2117-hydroxyprogesterone44 2410.0POMC, PRL, CRH
22dehydroepiandrosterone sulfate449.0POMC, PRL, CRH
23carbamazepine44 49 1111.0POMC, PRL, CRH
24opiate448.9CRH, PRL, POMC
25dhea448.9POMC, PRL, CRH
26bromocriptine28 44 1110.9PRL, TRH, POMC
27androstenedione44 249.9PRL, POMC, CRH
28mhpg448.9CRH, PRL
29clonidine44 28 1110.9PRL, TRH, POMC
30corticosterone44 59 2410.9CRH, POMC, PRL
31mifepristone44 59 28 1111.9CRH, PRL, POMC
32triiodothyronine448.9POMC, TRH, PRL
33haloperidol44 28 2 49 1112.8TRH, POMC, PRL
345-hydroxytryptamine448.8POMC, PRL, CRH
35adenylate448.6ASS1, CRH, TRH, POMC
36fenfluramine28 44 1110.5CRH, PRL, TRH, POMC
37naloxone44 49 28 1111.5CRH, PRL, TRH, POMC
38octreotide44 59 28 1111.5POMC, TRH, PRL, CRH
39hydrocortisone44 2 59 1111.5CRH, TRH, PRL, POMC
40cocaine44 119.5POMC, TRH, PRL, CRH
41thyroxine44 249.5CRH, POMC, PRL, TRH
42norepinephrine44 11 2410.4PRL, TRH, POMC, CRH
43estradiol44 11 2410.4CRH, POMC, TRH, PRL
44dopamine44 28 11 2411.3CRH, PRL, TRH, POMC
45progesterone44 59 28 11 2412.2POMC, TRH, PRL, CRH
46acth448.1TRH, POMC, CRH, PRL, TBX19
47gnrh448.1POMC, TRH, PRL, CRH, PITX1
48testosterone44 59 11 2411.1TRH, POMC, PRL, CRH
49dexamethasone44 49 28 1110.9CRH, TRH, POMC, ASS1, PRL
50arginine447.9ASS1, POMC, TRH, PRL, CRH

GO Terms for genes affiliated with Isolated Acth Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1secretory granuleGO:0301418.5POMC, TRH, PRL

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

idNameGO IDScoreTop Affiliating Genes
1pituitary gland developmentGO:0219839.7TBX19, PITX1
2response to corticosterone stimulusGO:0514129.2TRH, CRH
3parturitionGO:0075679.1PRL, CRH
4response to ethanolGO:0454718.7TRH, PRL, CRH

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

idNameGO IDScoreTop Affiliating Genes
1neuropeptide hormone activityGO:0051849.5TRH, CRH
2hormone activityGO:0051798.3POMC, PRL, CRH

Products for genes affiliated with Isolated Acth Deficiency

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  • Antibodies
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Sources for Isolated 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