MCID: LTN011
MIFTS: 17

Late-Onset Isolated Acth Deficiency

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Late-Onset Isolated Acth Deficiency

Summaries for Late-Onset Isolated Acth Deficiency

MalaCards based summary : Late-Onset Isolated Acth Deficiency is related to acth deficiency, isolated and autosomal dominant nocturnal frontal lobe epilepsy. An important gene associated with Late-Onset Isolated Acth Deficiency is TBX19 (T-Box Transcription Factor 19). Affiliated tissues include pituitary and bone, and related phenotypes are adrenocorticotropic hormone deficiency and adrenocorticotropin deficient adrenal insufficiency

Related Diseases for Late-Onset Isolated Acth Deficiency

Diseases related to Late-Onset Isolated Acth Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acth deficiency, isolated 10.1
2 autosomal dominant nocturnal frontal lobe epilepsy 10.1

Symptoms & Phenotypes for Late-Onset Isolated Acth Deficiency

Human phenotypes related to Late-Onset Isolated Acth Deficiency:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adrenocorticotropic hormone deficiency 58 31 obligate (100%) Obligate (100%) HP:0011748
2 adrenocorticotropin deficient adrenal insufficiency 58 31 obligate (100%) Obligate (100%) HP:0011735
3 decreased circulating cortisol level 31 obligate (100%) HP:0008163
4 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
5 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
6 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
7 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
8 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
9 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
10 anorexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002039
11 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
12 lethargy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001254
13 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
14 decreased circulating acth level 58 31 hallmark (90%) Very frequent (99-80%) HP:0002920
15 type i diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0100651
16 hyperuricemia 58 31 frequent (33%) Frequent (79-30%) HP:0002149
17 hashimoto thyroiditis 58 31 frequent (33%) Frequent (79-30%) HP:0000872
18 hyponatremia 58 31 frequent (33%) Frequent (79-30%) HP:0002902
19 low-grade fever 58 31 frequent (33%) Frequent (79-30%) HP:0011134
20 macrocytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001972
21 graves disease 58 31 frequent (33%) Frequent (79-30%) HP:0100647
22 normocytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001897
23 premature ovarian insufficiency 31 frequent (33%) HP:0008209
24 hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001943
25 hepatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012115
26 dry skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000958
27 vitiligo 58 31 occasional (7.5%) Occasional (29-5%) HP:0001045
28 celiac disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0002608
29 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
30 arthralgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002829
31 hypoparathyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000829
32 hypercalcemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003072
33 eosinophilia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001880
34 orthostatic hypotension 58 31 occasional (7.5%) Occasional (29-5%) HP:0001278
35 generalized bone demineralization 58 31 occasional (7.5%) Occasional (29-5%) HP:0006462
36 seizure 31 occasional (7.5%) HP:0001250
37 sepsis 58 31 very rare (1%) Very rare (<4-1%) HP:0100806
38 pituitary adenoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002893
39 seizures 58 Occasional (29-5%)
40 hypotension 58 Very frequent (99-80%)
41 autoimmunity 58 Very frequent (99-80%)
42 hyperkalemia 58 Excluded (0%)
43 primary ovarian failure 58 Frequent (79-30%)
44 hypocortisolemia 58 Obligate (100%)

Drugs & Therapeutics for Late-Onset Isolated Acth Deficiency

Search Clinical Trials , NIH Clinical Center for Late-Onset Isolated Acth Deficiency

Genetic Tests for Late-Onset Isolated Acth Deficiency

Anatomical Context for Late-Onset Isolated Acth Deficiency

MalaCards organs/tissues related to Late-Onset Isolated Acth Deficiency:

40
Pituitary, Bone

Publications for Late-Onset Isolated Acth Deficiency

Articles related to Late-Onset Isolated Acth Deficiency:

# Title Authors PMID Year
1
Late-onset isolated adrenocorticotropic hormone deficiency caused by nivolumab: a case report. 61
30782163 2019
2
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. 61
15476446 2004

Variations for Late-Onset Isolated Acth Deficiency

Expression for Late-Onset Isolated Acth Deficiency

Search GEO for disease gene expression data for Late-Onset Isolated Acth Deficiency.

Pathways for Late-Onset Isolated Acth Deficiency

GO Terms for Late-Onset Isolated Acth Deficiency

Sources for Late-Onset Isolated Acth Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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