IAD
MCID: ACT238
MIFTS: 48

Acth Deficiency, Isolated (IAD)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Acth Deficiency, Isolated

MalaCards integrated aliases for Acth Deficiency, Isolated:

Name: Acth Deficiency, Isolated 57 53 75 73
Adrenocorticotropic Hormone Deficiency 57 12 75 37 29 13 6 15
Congenital Isolated Acth Deficiency 53 59
Iad 57 75
Isolated Adrenocorticotropic Hormone Deficiency 53
Adrenocorticotropic Hormone Deficiency 73
Isolated Acth Deficiency 53

Characteristics:

Orphanet epidemiological data:

59
congenital isolated acth deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
approximately 25% of patients die in infancy


HPO:

32
acth deficiency, isolated:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Acth Deficiency, Isolated

OMIM : 57 Congenital isolated adrenocorticotropic hormone deficiency is characterized by severe hypoglycemia in the neonatal period, associated with seizures in about half of cases; prolonged cholestatic jaundice; and very low plasma ACTH levels with no significant response to CRH (122560). Plasma cortisol levels are also extremely low (Vallette-Kasic et al., 2005). TBX19 is required for initiation of transcription of the POMC gene (176830), which produces the precursor peptide from which ACTH is derived (Lamolet et al., 2001). (201400)

MalaCards based summary : Acth Deficiency, Isolated, also known as adrenocorticotropic hormone deficiency, is related to hypothyroidism and lymphocytic hypophysitis. An important gene associated with Acth Deficiency, Isolated is TBX19 (T-Box 19), and among its related pathways/superpathways are G alpha (s) signalling events and Corticotropin-releasing hormone signaling pathway. The drugs Melanocyte-Stimulating Hormones and Hormones have been mentioned in the context of this disorder. Affiliated tissues include pituitary, thyroid and cortex, and related phenotypes are hypotension and fatigue

Disease Ontology : 12 A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.

UniProtKB/Swiss-Prot : 75 ACTH deficiency, isolated: An autosomal recessive disorder that is characterized by adrenal insufficiency symptoms, such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting and low blood pressure (hypotension). The pituitary hormone ACTH is decreased or absent, and other cortisol and other steroid hormone levels in the blood are abnormally low.

Wikipedia : 76 Adrenocorticotropic hormone deficiency (ACTH deficiency) is a result of a decreased or absent production... more...

Related Diseases for Acth Deficiency, Isolated

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

(show top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism 30.3 IGSF1 POMC TRHR
2 lymphocytic hypophysitis 30.3 POMC TBX19
3 hypopituitarism 29.8 CRH POMC
4 hypothyroidism, congenital, nongoitrous, 4 29.8 CRH POMC
5 late-onset isolated acth deficiency 12.4
6 idiopathic ductopenia 11.1
7 dermatitis 10.4
8 thyroiditis 10.2
9 diabetes mellitus 10.1
10 melanoma 10.1
11 hypoglycemia 10.1
12 hypothalamic disease 10.0 CRH POMC
13 gangliocytoma 10.0 CRH POMC
14 pituitary carcinoma 10.0 CRH POMC
15 nelson syndrome 10.0 CRH POMC
16 gastric cancer 10.0
17 cholestasis 10.0
18 lymphadenitis 10.0
19 sheehan syndrome 10.0 CRH POMC
20 common variable immunodeficiency 10.0
21 growth hormone deficiency 10.0
22 hypoadrenalism 10.0 CRH POMC
23 pituitary adenoma, prolactin-secreting 10.0 POMC TRHR
24 acth-secreting pituitary adenoma 10.0 CRH POMC
25 fasting hypoglycemia 10.0 CRH POMC
26 hypothyroidism, central, and testicular enlargement 10.0 IGSF1 TRHR
27 adrenal cortical hypofunction 10.0 CRH POMC
28 withdrawal disorder 10.0 CRH POMC
29 ectopic cushing syndrome 10.0 CRH POMC
30 persistent fetal circulation syndrome 10.0 CRH POMC
31 premenstrual tension 10.0 CRH POMC
32 adrenal cortex disease 10.0 CRH POMC
33 pituitary-dependent cushing's disease 10.0 CRH POMC
34 adrenal gland disease 10.0 CRH POMC
35 hypoadrenocorticism, familial 10.0 CRH POMC
36 mental depression 10.0 CRH POMC
37 adrenal adenoma 10.0 CRH POMC
38 pituitary gland disease 10.0 CRH POMC
39 diabetes insipidus 10.0 CRH POMC
40 cell type benign neoplasm 10.0 CRH POMC
41 amenorrhea 10.0 CRH POMC
42 adrenal carcinoma 10.0 CRH POMC
43 drug dependence 10.0 CRH POMC
44 eating disorder 10.0 CRH POMC
45 chronic fatigue syndrome 10.0 CRH POMC
46 gonadal disease 10.0 CRH POMC
47 hypoaldosteronism 10.0
48 disease of mental health 10.0 CRH POMC
49 adrenocortical carcinoma, hereditary 9.9 CRH POMC
50 mood disorder 9.9 CRH POMC

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



Diseases related to Acth Deficiency, Isolated

Symptoms & Phenotypes for Acth Deficiency, Isolated

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
jaundice

Metabolic Features:
fasting hypoglycemia

Endocrine Features:
acth deficiency
cortisol deficiency

Abdomen Liver:
cholestasis

Neurologic Central Nervous System:
normal development in patients who are treated and survive infancy
seizures (due to hypoglycemia, in some patients)
normal pituitary imaging

Laboratory Abnormalities:
low serum cortisol


Clinical features from OMIM:

201400

Human phenotypes related to Acth Deficiency, Isolated:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypotension 59 32 hallmark (90%) Very frequent (99-80%) HP:0002615
2 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
3 hepatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012115
4 hyponatremia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002902
5 prolonged neonatal jaundice 59 32 frequent (33%) Frequent (79-30%) HP:0006579
6 neonatal hypoglycemia 59 32 obligate (100%) Obligate (100%) HP:0001998
7 adrenal hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000835
8 decreased circulating cortisol level 59 32 obligate (100%) Obligate (100%) HP:0008163
9 adrenocorticotropin deficient adrenal insufficiency 59 32 obligate (100%) Obligate (100%) HP:0011735
10 hypoglycemic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002173
11 seizures 32 HP:0001250
12 hyperkalemia 59 Excluded (0%)
13 adrenocorticotropic hormone deficiency 32 HP:0011748
14 fasting hypoglycemia 32 HP:0003162

MGI Mouse Phenotypes related to Acth Deficiency, Isolated:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.73 CRH IGSF1 NFKB2 POMC TBX19 TRHR
2 growth/size/body region MP:0005378 9.63 CRH IGSF1 NFKB2 POMC TBX19 TRHR
3 homeostasis/metabolism MP:0005376 9.43 CRH IGSF1 NFKB2 POMC TBX19 TRHR
4 integument MP:0010771 8.92 CRH NFKB2 POMC TBX19

Drugs & Therapeutics for Acth Deficiency, Isolated

Drugs for Acth Deficiency, Isolated (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Melanocyte-Stimulating Hormones Not Applicable
2 Hormones Not Applicable
3 beta-endorphin Not Applicable
4 Antibodies Not Applicable
5 Immunoglobulins Not Applicable
6 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
7 Hormone Antagonists Not Applicable
8 Adrenocorticotropic Hormone Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Isolated ACTH Deficiency in Patients With Hashimoto Thyroiditis Completed NCT00552487 Not Applicable synacthen

Search NIH Clinical Center for Acth Deficiency, Isolated

Genetic Tests for Acth Deficiency, Isolated

Genetic tests related to Acth Deficiency, Isolated:

# Genetic test Affiliating Genes
1 Adrenocorticotropic Hormone Deficiency 29 TBX19

Anatomical Context for Acth Deficiency, Isolated

MalaCards organs/tissues related to Acth Deficiency, Isolated:

41
Pituitary, Thyroid, Cortex, Lung, Heart, Adrenal Gland, Adrenal Cortex

Publications for Acth Deficiency, Isolated

Articles related to Acth Deficiency, Isolated:

(show all 46)
# Title Authors Year
1
Isolated Adrenocorticotropic Hormone Deficiency and Severe Hypercalcemia After Destructive Thyroiditis in a Patient on Nivolumab Therapy With a Malignant Melanoma. ( 29511426 )
2018
2
Isolated Adrenocorticotropic Hormone Deficiency in Melanoma Patients Treated with Nivolumab. ( 29405244 )
2018
3
Isolated adrenocorticotropic hormone deficiency as a form of paraneoplastic syndrome. ( 30008158 )
2018
4
A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections. ( 28458651 )
2017
5
Isolated Adrenocorticotropic Hormone Deficiency Following Chronic Subdural Hematoma in an Elderly Man: Is There a Connection? ( 28768968 )
2017
6
Isolated Adrenocorticotropic Hormone Deficiency Caused by Nivolumab in a Patient with Metastatic Lung Cancer. ( 28824067 )
2017
7
Petrified Ear Auricles with Isolated Adrenocorticotropic Hormone Deficiency. ( 29021427 )
2017
8
Treatable Bedridden Elderly -Recovery from Flexion Contracture after Cortisol Replacement in a Patient with Isolated Adrenocorticotropic Hormone Deficiency. ( 27746435 )
2016
9
NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature. ( 27749582 )
2016
10
Isolated adrenocorticotropic hormone deficiency possibly caused by nivolumab in a metastatic melanoma patient. ( 27440178 )
2016
11
Isolated adrenocorticotropic hormone deficiency associated with nivolumab therapy. ( 27608187 )
2016
12
A case of isolated adrenocorticotropic hormone deficiency: a rare but possible cause of hypercalcemia. ( 25870516 )
2015
13
Long QT Syndrome Associated with Adrenal Insufficiency in a Patient with Isolated Adrenocorticotropic Hormone Deficiency. ( 25318797 )
2014
14
Isolated adrenocorticotropic hormone deficiency development during chemotherapy for gastric cancer: a case report. ( 24597969 )
2014
15
Heart Failure Caused by Atrial Fibrillation in a Patient with Isolated Adrenocorticotropic Hormone Deficiency and Hashimoto's Thyroiditis. ( 25774257 )
2014
16
Isolated adrenocorticotropic hormone deficiency due to probable lymphocytic hypophysitis in a woman. ( 24251125 )
2013
17
Depressive state due to isolated adrenocorticotropic hormone deficiency underlies school refusal. ( 22443249 )
2012
18
Isolated adrenocorticotropic hormone deficiency associated with Hashimoto's disease and thyroid crisis triggered by head trauma. Case report. ( 22278027 )
2012
19
Case of isolated adrenocorticotropic hormone deficiency mimicking major depressive disorder. ( 21507142 )
2011
20
Is adrenocorticotropic hormone deficiency really rare in patients with idiopathic growth hormone deficiency and normal thyroid function tests? ( 21042000 )
2011
21
Isolated adrenocorticotropic hormone deficiency accompanied with delirium. ( 19566778 )
2009
22
Improved response of growth hormone to growth hormone-releasing hormone and reversible chronic thyroiditis after hydrocortisone replacement in isolated adrenocorticotropic hormone deficiency. ( 21318995 )
2009
23
Type 2 diabetes mellitus accompanied by isolated adrenocorticotropic hormone deficiency and gastric cancer. ( 19525593 )
2009
24
Gene symbol: TBX19. Disease: ACTH deficiency, isolated? ( 20960606 )
2008
25
Isolated adrenocorticotropic hormone deficiency presenting as an acute neurologic emergency in a peripubertal girl. ( 18825881 )
2008
26
Isolated adrenocorticotropic hormone deficiency presenting with psychomotor retardation. ( 17587281 )
2007
27
Isolated adrenocorticotropic hormone deficiency with transient thyroiditis inducing an adrenal crisis. ( 17409760 )
2007
28
Isolated adrenocorticotropic hormone deficiency presenting with delirium. ( 17728437 )
2007
29
Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene. ( 16390921 )
2006
30
Isolated adrenocorticotropic hormone deficiency presenting with hypercalcemia in a patient on long-term hemodialysis. ( 12900850 )
2003
31
Isolated adrenocorticotropic hormone deficiency, thyroid autoimmunity, and transient hyperprolactinemia. ( 11421554 )
2001
32
Reversibly increased lymphocyte response to mitogens in a young man with isolated adrenocorticotropic hormone deficiency. ( 9144012 )
1997
33
Isolated adrenocorticotropic hormone deficiency: an autopsy case of adrenal crisis. A case report. ( 9185943 )
1997
34
Acute lymphoblastic leukemia with isolated adrenocorticotropic hormone deficiency. ( 9392357 )
1997
35
Linkage of congenital isolated adrenocorticotropic hormone deficiency to the corticotropin releasing hormone locus using simple sequence repeat polymorphisms. ( 8882784 )
1996
36
Serial electroencephalograms and somatosensory evoked potentials in a patient with isolated adrenocorticotropic hormone deficiency. ( 8785460 )
1996
37
Isolated adrenocorticotropic hormone deficiency associated with growth hormone deficiency and empty sella. ( 7496087 )
1995
38
Isolated adrenocorticotropic hormone deficiency due to probable lymphocytic hypophysitis in a man. ( 8006333 )
1994
39
Isolated adrenocorticotropic hormone deficiency secondary to hypothalamic deficit of corticotropin releasing hormone. ( 1313844 )
1992
40
Isolated adrenocorticotropic hormone deficiency associated with common variable immunodeficiency. ( 1645668 )
1991
41
Role of antidiuretic hormone in hyponatremia in patients with isolated adrenocorticotropic hormone deficiency. ( 1665414 )
1991
42
Detection of antibodies to anterior pituitary cell surface membrane with insulin dependent diabetes mellitus and adrenocorticotropic hormone deficiency. ( 3034474 )
1987
43
Heterogeneity of anterior pituitary cell antibodies detected in insulin-dependent diabetes mellitus and adrenocorticotropic hormone deficiency. ( 3011344 )
1986
44
Isolated adrenocorticotropic hormone deficiency with antepartum pituitary infarction in a type I diabetic. ( 2983276 )
1985
45
Lymphoid hypophysitis with selective adrenocorticotropic hormone deficiency. ( 6250507 )
1980
46
Familial moniliasis, defective delayed hypersensitivity, and adrenocorticotropic hormone deficiency. ( 5091270 )
1971

Variations for Acth Deficiency, Isolated

UniProtKB/Swiss-Prot genetic disease variations for Acth Deficiency, Isolated:

75
# Symbol AA change Variation ID SNP ID
1 TBX19 p.Ser128Phe VAR_018387 rs74315377

ClinVar genetic disease variations for Acth Deficiency, Isolated:

6 (show top 50) (show all 131)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBX19 NM_005149.2(TBX19): c.856C> T (p.Arg286Ter) single nucleotide variant Pathogenic rs74315376 GRCh37 Chromosome 1, 168274374: 168274374
2 TBX19 NM_005149.2(TBX19): c.856C> T (p.Arg286Ter) single nucleotide variant Pathogenic rs74315376 GRCh38 Chromosome 1, 168305136: 168305136
3 TBX19 NM_005149.2(TBX19): c.383C> T (p.Ser128Phe) single nucleotide variant Pathogenic rs74315377 GRCh37 Chromosome 1, 168260577: 168260577
4 TBX19 NM_005149.2(TBX19): c.383C> T (p.Ser128Phe) single nucleotide variant Pathogenic rs74315377 GRCh38 Chromosome 1, 168291339: 168291339
5 TBX19 NM_005149.2(TBX19): c.257T> G (p.Met86Arg) single nucleotide variant Pathogenic rs74315378 GRCh37 Chromosome 1, 168260451: 168260451
6 TBX19 NM_005149.2(TBX19): c.257T> G (p.Met86Arg) single nucleotide variant Pathogenic rs74315378 GRCh38 Chromosome 1, 168291213: 168291213
7 TBX19 NM_005149.2(TBX19): c.782delA (p.Asn261Ilefs) deletion Pathogenic rs730880274 GRCh37 Chromosome 1, 168274300: 168274300
8 TBX19 NM_005149.2(TBX19): c.782delA (p.Asn261Ilefs) deletion Pathogenic rs730880274 GRCh38 Chromosome 1, 168305062: 168305062
9 TBX19 NM_005149.2(TBX19): c.105C> T (p.Asp35=) single nucleotide variant Likely benign rs34284181 GRCh38 Chromosome 1, 168281195: 168281195
10 TBX19 NM_005149.2(TBX19): c.105C> T (p.Asp35=) single nucleotide variant Likely benign rs34284181 GRCh37 Chromosome 1, 168250433: 168250433
11 TBX19 NM_005149.2(TBX19): c.194A> G (p.Lys65Arg) single nucleotide variant Uncertain significance rs886045509 GRCh38 Chromosome 1, 168281284: 168281284
12 TBX19 NM_005149.2(TBX19): c.194A> G (p.Lys65Arg) single nucleotide variant Uncertain significance rs886045509 GRCh37 Chromosome 1, 168250522: 168250522
13 TBX19 NM_005149.2(TBX19): c.603+10_603+11insTT insertion Likely benign rs746785887 GRCh38 Chromosome 1, 168293288: 168293289
14 TBX19 NM_005149.2(TBX19): c.603+10_603+11insTT insertion Likely benign rs746785887 GRCh37 Chromosome 1, 168262526: 168262527
15 TBX19 NM_005149.2(TBX19): c.603+10_603+11insTTGT insertion Benign rs746785887 GRCh38 Chromosome 1, 168293288: 168293289
16 TBX19 NM_005149.2(TBX19): c.603+10_603+11insTTGT insertion Benign rs746785887 GRCh37 Chromosome 1, 168262526: 168262527
17 TBX19 NM_005149.2(TBX19): c.603+43_603+48dupGTGTGT duplication Uncertain significance rs57039241 GRCh37 Chromosome 1, 168262559: 168262564
18 TBX19 NM_005149.2(TBX19): c.603+43_603+48dupGTGTGT duplication Uncertain significance rs57039241 GRCh38 Chromosome 1, 168293321: 168293326
19 TBX19 NM_005149.2(TBX19): c.603+45_603+48delGTGT deletion Uncertain significance rs886045511 GRCh37 Chromosome 1, 168262561: 168262564
20 TBX19 NM_005149.2(TBX19): c.603+45_603+48delGTGT deletion Uncertain significance rs886045511 GRCh38 Chromosome 1, 168293323: 168293326
21 TBX19 NM_005149.2(TBX19): c.*21T> A single nucleotide variant Benign rs3885717 GRCh37 Chromosome 1, 168282261: 168282261
22 TBX19 NM_005149.2(TBX19): c.*21T> A single nucleotide variant Benign rs3885717 GRCh38 Chromosome 1, 168313023: 168313023
23 TBX19 NM_005149.2(TBX19): c.*251T> C single nucleotide variant Benign rs1000533 GRCh37 Chromosome 1, 168282491: 168282491
24 TBX19 NM_005149.2(TBX19): c.*251T> C single nucleotide variant Benign rs1000533 GRCh38 Chromosome 1, 168313253: 168313253
25 TBX19 NM_005149.2(TBX19): c.*544G> A single nucleotide variant Uncertain significance rs144304383 GRCh38 Chromosome 1, 168313546: 168313546
26 TBX19 NM_005149.2(TBX19): c.*544G> A single nucleotide variant Uncertain significance rs144304383 GRCh37 Chromosome 1, 168282784: 168282784
27 TBX19 NM_005149.2(TBX19): c.*1109dupC duplication Uncertain significance rs886045519 GRCh38 Chromosome 1, 168314111: 168314111
28 TBX19 NM_005149.2(TBX19): c.*1109dupC duplication Uncertain significance rs886045519 GRCh37 Chromosome 1, 168283349: 168283349
29 TBX19 NM_005149.2(TBX19): c.*1325T> C single nucleotide variant Uncertain significance rs886045520 GRCh38 Chromosome 1, 168314327: 168314327
30 TBX19 NM_005149.2(TBX19): c.*1325T> C single nucleotide variant Uncertain significance rs886045520 GRCh37 Chromosome 1, 168283565: 168283565
31 TBX19 NM_005149.2(TBX19): c.315C> T (p.Asn105=) single nucleotide variant Uncertain significance rs143801899 GRCh38 Chromosome 1, 168291271: 168291271
32 TBX19 NM_005149.2(TBX19): c.315C> T (p.Asn105=) single nucleotide variant Uncertain significance rs143801899 GRCh37 Chromosome 1, 168260509: 168260509
33 TBX19 NM_005149.2(TBX19): c.603+15G> T single nucleotide variant Uncertain significance rs886045513 GRCh37 Chromosome 1, 168262531: 168262531
34 TBX19 NM_005149.2(TBX19): c.603+15G> T single nucleotide variant Uncertain significance rs886045513 GRCh38 Chromosome 1, 168293293: 168293293
35 TBX19 NM_005149.2(TBX19): c.603+47_603+48delGT deletion Uncertain significance rs886045510 GRCh37 Chromosome 1, 168262563: 168262564
36 TBX19 NM_005149.2(TBX19): c.603+47_603+48delGT deletion Uncertain significance rs886045510 GRCh38 Chromosome 1, 168293325: 168293326
37 TBX19 NM_005149.2(TBX19): c.728-7A> G single nucleotide variant Uncertain significance rs752195406 GRCh37 Chromosome 1, 168274239: 168274239
38 TBX19 NM_005149.2(TBX19): c.728-7A> G single nucleotide variant Uncertain significance rs752195406 GRCh38 Chromosome 1, 168305001: 168305001
39 TBX19 NM_005149.2(TBX19): c.761T> C (p.Val254Ala) single nucleotide variant Uncertain significance rs77425733 GRCh37 Chromosome 1, 168274279: 168274279
40 TBX19 NM_005149.2(TBX19): c.761T> C (p.Val254Ala) single nucleotide variant Uncertain significance rs77425733 GRCh38 Chromosome 1, 168305041: 168305041
41 TBX19 NM_005149.2(TBX19): c.1053-11dupT duplication Uncertain significance rs886045514 GRCh37 Chromosome 1, 168281935: 168281935
42 TBX19 NM_005149.2(TBX19): c.1053-11dupT duplication Uncertain significance rs886045514 GRCh38 Chromosome 1, 168312697: 168312697
43 TBX19 NM_005149.2(TBX19): c.*621_*623delCTC deletion Uncertain significance rs886045517 GRCh38 Chromosome 1, 168313623: 168313625
44 TBX19 NM_005149.2(TBX19): c.*621_*623delCTC deletion Uncertain significance rs886045517 GRCh37 Chromosome 1, 168282861: 168282863
45 TBX19 NM_005149.2(TBX19): c.*654T> G single nucleotide variant Uncertain significance rs886045518 GRCh38 Chromosome 1, 168313656: 168313656
46 TBX19 NM_005149.2(TBX19): c.*654T> G single nucleotide variant Uncertain significance rs886045518 GRCh37 Chromosome 1, 168282894: 168282894
47 TBX19 NM_005149.2(TBX19): c.*746A> G single nucleotide variant Uncertain significance rs553418600 GRCh38 Chromosome 1, 168313748: 168313748
48 TBX19 NM_005149.2(TBX19): c.*746A> G single nucleotide variant Uncertain significance rs553418600 GRCh37 Chromosome 1, 168282986: 168282986
49 TBX19 NM_005149.2(TBX19): c.*781A> G single nucleotide variant Uncertain significance rs575063780 GRCh38 Chromosome 1, 168313783: 168313783
50 TBX19 NM_005149.2(TBX19): c.*781A> G single nucleotide variant Uncertain significance rs575063780 GRCh37 Chromosome 1, 168283021: 168283021

Expression for Acth Deficiency, Isolated

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

Pathways for Acth Deficiency, Isolated

Pathways related to Acth Deficiency, Isolated according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.32 CRH POMC
2 10.77 CRH POMC TBX19
3 9.8 CRH POMC

GO Terms for Acth Deficiency, Isolated

Biological processes related to Acth Deficiency, Isolated according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 8.92 CRH NFKB2 POMC TRHR

Molecular functions related to Acth Deficiency, Isolated according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.62 CRH POMC

Sources for Acth Deficiency, Isolated

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
Content
Loading form....