MCID: LTN011
MIFTS: 18

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 An important gene associated with Late-Onset Isolated Acth Deficiency is TBX19 (T-Box 19). Affiliated tissues include pituitary, skin and thyroid, and related phenotypes are adrenocorticotropin deficient adrenal insufficiency and adrenocorticotropic hormone deficiency

Related Diseases for Late-Onset Isolated Acth Deficiency

Symptoms & Phenotypes for Late-Onset Isolated Acth Deficiency

Human phenotypes related to Late-Onset Isolated Acth Deficiency:

59 32 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adrenocorticotropin deficient adrenal insufficiency 59 32 obligate (100%) Obligate (100%) HP:0011735
2 adrenocorticotropic hormone deficiency 59 32 obligate (100%) Obligate (100%) HP:0011748
3 lethargy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001254
4 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
5 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
6 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
7 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
8 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
9 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
10 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
11 anorexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002039
12 decreased circulating acth level 59 32 hallmark (90%) Very frequent (99-80%) HP:0002920
13 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
14 hashimoto thyroiditis 59 32 frequent (33%) Frequent (79-30%) HP:0000872
15 normocytic anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001897
16 macrocytic anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001972
17 hyperuricemia 59 32 frequent (33%) Frequent (79-30%) HP:0002149
18 hyponatremia 59 32 frequent (33%) Frequent (79-30%) HP:0002902
19 low-grade fever 59 32 frequent (33%) Frequent (79-30%) HP:0011134
20 graves disease 59 32 frequent (33%) Frequent (79-30%) HP:0100647
21 type i diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0100651
22 hypoparathyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000829
23 dry skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000958
24 vitiligo 59 32 occasional (7.5%) Occasional (29-5%) HP:0001045
25 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
26 orthostatic hypotension 59 32 occasional (7.5%) Occasional (29-5%) HP:0001278
27 eosinophilia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001880
28 hypoglycemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001943
29 vertigo 59 32 occasional (7.5%) Occasional (29-5%) HP:0002321
30 celiac disease 59 32 occasional (7.5%) Occasional (29-5%) HP:0002608
31 arthralgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002829
32 hypercalcemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003072
33 generalized bone demineralization 59 32 occasional (7.5%) Occasional (29-5%) HP:0006462
34 hepatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012115
35 pituitary adenoma 59 32 very rare (1%) Very rare (<4-1%) HP:0002893
36 sepsis 59 32 very rare (1%) Very rare (<4-1%) HP:0100806
37 hypocortisolemia 59 Obligate (100%)
38 hypotension 59 Very frequent (99-80%)
39 autoimmunity 59 Very frequent (99-80%)
40 primary ovarian failure 59 Frequent (79-30%)
41 hyperkalemia 59 Excluded (0%)
42 decreased circulating cortisol level 32 obligate (100%) HP:0008163
43 premature ovarian insufficiency 32 frequent (33%) HP:0008209

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:

41
Pituitary, Skin, Thyroid, Bone

Publications for Late-Onset Isolated Acth Deficiency

Articles related to Late-Onset Isolated Acth Deficiency:

# Title Authors Year
1
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. ( 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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