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IAD
MCID: ACT238
MIFTS: 50

Acth Deficiency, Isolated (IAD)

Categories: Endocrine diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Acth Deficiency, Isolated

About this section

MalaCards integrated aliases for Acth Deficiency, Isolated:

Name: Acth Deficiency, Isolated 58 54 76 74
Adrenocorticotropic Hormone Deficiency 58 12 76 38 30 13 6 15 17
Congenital Isolated Acth Deficiency 54 60
Iad 58 76
Isolated Adrenocorticotropic Hormone Deficiency 54
Adrenocorticotropic Hormone Deficiency 74
Isolated Acth Deficiency 54

Characteristics:

Orphanet epidemiological data:

60
congenital isolated acth deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
acth deficiency, isolated:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare endocrine diseases


Sources

Summaries for Acth Deficiency, Isolated

About this section
OMIM : 58 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 lymphocytic hypophysitis and hypothyroidism, congenital, nongoitrous, 4. An important gene associated with Acth Deficiency, Isolated is TBX19 (T-Box 19), and among its related pathways/superpathways are Corticotropin-releasing hormone signaling pathway and Glucocorticoid Pathway (HPA Axis), Pharmacodynamics. The drugs Hydrocortisone and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include pituitary, thyroid and lung, and related phenotypes are neonatal hypoglycemia and decreased circulating cortisol level

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

UniProtKB/Swiss-Prot : 76 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 : 77 Adrenocorticotropic hormone deficiency is a result of a decreased or absent production of... more...

Sources

Related Diseases for Acth Deficiency, Isolated

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

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 lymphocytic hypophysitis 30.5 POMC TBX19
2 hypothyroidism, congenital, nongoitrous, 4 30.0 CRH POMC
3 hypopituitarism 29.7 CRH LHX4 POMC
4 hypothyroidism 29.2 IGSF1 POMC TRHR
5 late-onset isolated acth deficiency 12.4
6 idiopathic ductopenia 11.1
7 dermatitis 10.5
8 thyroiditis 10.3
9 allergic encephalomyelitis 10.2 CRH POMC
10 hypothalamic disease 10.2 CRH POMC
11 gangliocytoma 10.2 CRH POMC
12 pituitary carcinoma 10.2 CRH POMC
13 nelson syndrome 10.2 CRH POMC
14 sheehan syndrome 10.2 CRH POMC
15 hypoadrenalism 10.2 CRH POMC
16 acth-secreting pituitary adenoma 10.2 CRH POMC
17 fasting hypoglycemia 10.2 CRH POMC
18 adrenal cortical hypofunction 10.2 CRH POMC
19 withdrawal disorder 10.2 CRH POMC
20 ectopic cushing syndrome 10.2 CRH POMC
21 persistent fetal circulation syndrome 10.2 CRH POMC
22 premenstrual tension 10.2 CRH POMC
23 adrenal cortex disease 10.2 CRH POMC
24 pituitary-dependent cushing's disease 10.1 CRH POMC
25 adrenal gland disease 10.1 CRH POMC
26 diabetes mellitus 10.1
27 melanoma 10.1
28 hypoadrenocorticism, familial 10.1 CRH POMC
29 mental depression 10.1 CRH POMC
30 adrenal adenoma 10.1 CRH POMC
31 pituitary gland disease 10.1 CRH POMC
32 diabetes insipidus 10.1 CRH POMC
33 cell type benign neoplasm 10.1 CRH POMC
34 pituitary hormone deficiency, combined, 2 10.1 LHX4 POMC
35 gastric cancer 10.1
36 cholestasis 10.1
37 lymphadenitis 10.1
38 amenorrhea 10.1 CRH POMC
39 adrenal carcinoma 10.1 CRH POMC
40 pituitary adenoma, prolactin-secreting 10.1 POMC TRHR
41 drug dependence 10.1 CRH POMC
42 lung cancer 10.1
43 common variable immunodeficiency 10.1
44 growth hormone deficiency 10.1
45 eating disorder 10.1 CRH POMC
46 chronic fatigue syndrome 10.0 CRH POMC
47 gonadal disease 10.0 CRH POMC
48 panic disorder 10.0 CRH POMC
49 ocular motor apraxia 10.0
50 hypoaldosteronism 10.0

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



Diseases related to Acth Deficiency, Isolated
Sources

Symptoms & Phenotypes for Acth Deficiency, Isolated

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Human phenotypes related to Acth Deficiency, Isolated:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neonatal hypoglycemia 60 33 obligate (100%) Obligate (100%) HP:0001998
2 decreased circulating cortisol level 60 33 obligate (100%) Obligate (100%) HP:0008163
3 adrenocorticotropin deficient adrenal insufficiency 60 33 obligate (100%) Obligate (100%) HP:0011735
4 hypotension 60 33 hallmark (90%) Very frequent (99-80%) HP:0002615
5 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
6 hyponatremia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002902
7 adrenal hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000835
8 prolonged neonatal jaundice 60 33 frequent (33%) Frequent (79-30%) HP:0006579
9 hypoglycemic seizures 60 33 frequent (33%) Frequent (79-30%) HP:0002173
10 hepatitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0012115
11 seizures 33 HP:0001250
12 hyperkalemia 60 Excluded (0%)
13 fasting hypoglycemia 33 HP:0003162
14 adrenocorticotropic hormone deficiency 33 HP:0011748

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Acth Deficiency, Isolated:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.87 CRH IGSF1 LHX4 NFKB2 POMC TBX19
2 homeostasis/metabolism MP:0005376 9.76 CRH IGSF1 LHX4 NFKB2 POMC RPE65
3 growth/size/body region MP:0005378 9.73 CRH IGSF1 NFKB2 POMC TBX19 TRHR
4 nervous system MP:0003631 9.43 CRH IGSF1 LHX4 POMC RPE65 TBX19
5 pigmentation MP:0001186 8.8 POMC RPE65 TBX19
Sources

Drugs & Therapeutics for Acth Deficiency, Isolated

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

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
2
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
3
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
4
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
7
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
8 Hydrocortisone hemisuccinate Phase 4
9 Anti-Inflammatory Agents Phase 4
10 Hydrocortisone-17-butyrate Phase 4
11 Hydrocortisone 17-butyrate 21-propionate Phase 4
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Not Applicable
13 Antineoplastic Agents, Hormonal Phase 4
14 Peripheral Nervous System Agents Phase 4
15 Antiemetics Phase 4
16 Gastrointestinal Agents Phase 4
17 glucocorticoids Phase 4
18 Hormones Phase 4,Not Applicable
19 Autonomic Agents Phase 4
20 Methylprednisolone Acetate Phase 4
21 Neuroprotective Agents Phase 4
22 Protective Agents Phase 4
23 Prednisolone acetate Phase 4
24 Hormone Antagonists Phase 4,Not Applicable
25
Cosyntropin Approved 16960-16-0 16129617
26
Racepinephrine Approved 329-65-7 838
27
Epinephrine Approved, Vet_approved 51-43-4 5816
28 Adrenocorticotropic Hormone Not Applicable
29 beta-endorphin Not Applicable
30 Antibodies Not Applicable
31 Melanocyte-Stimulating Hormones Not Applicable
32 Immunoglobulins Not Applicable
33 Vasoconstrictor Agents
34 Adrenergic alpha-Agonists
35 Sympathomimetics
36 Epinephryl borate
37 Adrenergic Agonists
38 Adrenergic Agents
39 Adrenergic beta-Agonists
40 Bronchodilator Agents
41 Neurotransmitter Agents
42 Respiratory System Agents
43 Anti-Asthmatic Agents
44 Mydriatics
45 Mitogens
46 Complement Factor I
47 Insulin, Globin Zinc
48 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Modified-release Compared to Conventional Hydrocortisone on Diurnal Fatigue in Secondary Hypoadrenalism Unknown status NCT02282150 Phase 4 Hydrocortisone;Plenadren
2 Ramadan Fasting in Patients With Corticotrope Deficiency Treated Either by Hydrocortisone or by Prednisolone Completed NCT03585829 Phase 4 Hydrocortisone;Prednisolone
3 Isolated ACTH Deficiency in Patients With Hashimoto Thyroiditis Completed NCT00552487 Not Applicable synacthen
4 Adrenal Function in Critical Illness Completed NCT00156767
5 Drug Use Investigation of Somatropin for GHD-ADULTS. Completed NCT00601419 Somatropin

Search NIH Clinical Center for Acth Deficiency, Isolated

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Genetic Tests for Acth Deficiency, Isolated

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Genetic tests related to Acth Deficiency, Isolated:

# Genetic test Affiliating Genes
1 Adrenocorticotropic Hormone Deficiency 30 TBX19
Sources

Anatomical Context for Acth Deficiency, Isolated

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MalaCards organs/tissues related to Acth Deficiency, Isolated:

42
Pituitary, Thyroid, Lung, Heart, Testes, Cortex, Adrenal Gland
Sources

Publications for Acth Deficiency, Isolated

About this section

Articles related to Acth Deficiency, Isolated:

(show top 50) (show all 57)
# Title Authors Year
1
Isolated adrenocorticotropic hormone deficiency and thyroiditis associated with nivolumab therapy in a patient with advanced lung adenocarcinoma: a case report and review of the literature. ( 30909965 )
2019
2
Isolated adrenocorticotropic hormone deficiency potentially induced by nivolumab following pseudo-progression in clear cell renal cell carcinoma: A case report. ( 30680212 )
2019
3
Idiopathic and isolated adrenocorticotropic hormone deficiency presenting as continuous epigastric discomfort without symptoms of hypoglycemia: a case report. ( 31036085 )
2019
4
A case of small-cell lung cancer with adrenocorticotropic hormone deficiency induced by nivolumab. ( 30988622 )
2019
5
A Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Caused by Two Novel Mutations in the TBX19 Gene. ( 31057487 )
2019
6
Late-onset isolated adrenocorticotropic hormone deficiency caused by nivolumab: a case report. ( 30782163 )
2019
7
Isolated Adrenocorticotropic Hormone Deficiency and Severe Hypercalcemia After Destructive Thyroiditis in a Patient on Nivolumab Therapy With a Malignant Melanoma. ( 29511426 )
2018
8
Isolated adrenocorticotropic hormone deficiency as a form of paraneoplastic syndrome. ( 30008158 )
2018
9
Isolated Adrenocorticotropic Hormone Deficiency in Melanoma Patients Treated with Nivolumab. ( 29405244 )
2018
10
Petrified Ear Auricles with Isolated Adrenocorticotropic Hormone Deficiency. ( 29021427 )
2017
11
Isolated Adrenocorticotropic Hormone Deficiency Caused by Nivolumab in a Patient with Metastatic Lung Cancer. ( 28824067 )
2017
12
Isolated Adrenocorticotropic Hormone Deficiency Following Chronic Subdural Hematoma in an Elderly Man: Is There a Connection? ( 28768968 )
2017
13
A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections. ( 28458651 )
2017
14
Isolated adrenocorticotropic hormone deficiency associated with nivolumab therapy. ( 27608187 )
2017
15
Isolated adrenocorticotropic hormone deficiency possibly caused by nivolumab in a metastatic melanoma patient. ( 27440178 )
2017
16
NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature. ( 27749582 )
2016
17
Treatable Bedridden Elderly -Recovery from Flexion Contracture after Cortisol Replacement in a Patient with Isolated Adrenocorticotropic Hormone Deficiency. ( 27746435 )
2016
18
A case of isolated adrenocorticotropic hormone deficiency: a rare but possible cause of hypercalcemia. ( 25870516 )
2015
19
Long QT syndrome associated with adrenal insufficiency in a patient with isolated adrenocorticotropic hormone deficiency. ( 25318797 )
2014
20
Heart Failure Caused by Atrial Fibrillation in a Patient with Isolated Adrenocorticotropic Hormone Deficiency and Hashimoto's Thyroiditis. ( 25774257 )
2014
21
Isolated adrenocorticotropic hormone deficiency development during chemotherapy for gastric cancer: a case report. ( 24597969 )
2014
22
Isolated adrenocorticotropic hormone deficiency due to probable lymphocytic hypophysitis in a woman. ( 24251125 )
2013
23
Isolated adrenocorticotropic hormone deficiency associated with Hashimoto's disease and thyroid crisis triggered by head trauma. Case report. ( 22278027 )
2012
24
Depressive state due to isolated adrenocorticotropic hormone deficiency underlies school refusal. ( 22443249 )
2012
25
Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations. ( 22170728 )
2012
26
Case of isolated adrenocorticotropic hormone deficiency mimicking major depressive disorder. ( 21507142 )
2011
27
Is adrenocorticotropic hormone deficiency really rare in patients with idiopathic growth hormone deficiency and normal thyroid function tests? ( 21042000 )
2011
28
Improved response of growth hormone to growth hormone-releasing hormone and reversible chronic thyroiditis after hydrocortisone replacement in isolated adrenocorticotropic hormone deficiency. ( 21318995 )
2009
29
Type 2 diabetes mellitus accompanied by isolated adrenocorticotropic hormone deficiency and gastric cancer. ( 19525593 )
2009
30
Isolated adrenocorticotropic hormone deficiency accompanied with delirium. ( 19566778 )
2009
31
Gene symbol: TBX19. Disease: ACTH deficiency, isolated? ( 20960606 )
2008
32
Isolated adrenocorticotropic hormone deficiency presenting as an acute neurologic emergency in a peripubertal girl. ( 18825881 )
2008
33
Isolated adrenocorticotropic hormone deficiency with transient thyroiditis inducing an adrenal crisis. ( 17409760 )
2007
34
Isolated adrenocorticotropic hormone deficiency presenting with psychomotor retardation. ( 17587281 )
2007
35
Isolated adrenocorticotropic hormone deficiency presenting with delirium. ( 17728437 )
2007
36
The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: protein interactions. ( 17652218 )
2007
37
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
38
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. ( 15476446 )
2004
39
Isolated adrenocorticotropic hormone deficiency presenting with hypercalcemia in a patient on long-term hemodialysis. ( 12900850 )
2003
40
Isolated adrenocorticotropic hormone deficiency, thyroid autoimmunity, and transient hyperprolactinemia. ( 11421554 )
2001
41
A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins. ( 11290323 )
2001
42
Reversibly increased lymphocyte response to mitogens in a young man with isolated adrenocorticotropic hormone deficiency. ( 9144012 )
1997
43
Isolated adrenocorticotropic hormone deficiency: an autopsy case of adrenal crisis. A case report. ( 9185943 )
1997
44
Acute lymphoblastic leukemia with isolated adrenocorticotropic hormone deficiency. ( 9392357 )
1997
45
Serial electroencephalograms and somatosensory evoked potentials in a patient with isolated adrenocorticotropic hormone deficiency. ( 8785460 )
1996
46
Linkage of congenital isolated adrenocorticotropic hormone deficiency to the corticotropin releasing hormone locus using simple sequence repeat polymorphisms. ( 8882784 )
1996
47
Isolated adrenocorticotropic hormone deficiency associated with growth hormone deficiency and empty sella. ( 7496087 )
1995
48
Isolated adrenocorticotropic hormone deficiency due to probable lymphocytic hypophysitis in a man. ( 8006333 )
1994
49
Isolated adrenocorticotropic hormone deficiency secondary to hypothalamic deficit of corticotropin releasing hormone. ( 1313844 )
1992
50
Role of antidiuretic hormone in hyponatremia in patients with isolated adrenocorticotropic hormone deficiency. ( 1665414 )
1991
Sources

Variations for Acth Deficiency, Isolated

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

76
# 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 139)
# 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 rs373712384 GRCh38 Chromosome 1, 168293288: 168293289
14 TBX19 NM_005149.2(TBX19): c.603+10_603+11insTT insertion Likely benign rs373712384 GRCh37 Chromosome 1, 168262526: 168262527
15 TBX19 NM_005149.2(TBX19): c.603+10_603+11insTTGT insertion Benign rs72294615 GRCh38 Chromosome 1, 168293288: 168293289
16 TBX19 NM_005149.2(TBX19): c.603+10_603+11insTTGT insertion Benign rs72294615 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 rs57039241 GRCh37 Chromosome 1, 168262561: 168262564
20 TBX19 NM_005149.2(TBX19): c.603+45_603+48delGTGT deletion Uncertain significance rs57039241 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 rs550552066 GRCh38 Chromosome 1, 168314111: 168314111
28 TBX19 NM_005149.2(TBX19): c.*1109dupC duplication Uncertain significance rs550552066 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 GRCh38 Chromosome 1, 168293293: 168293293
34 TBX19 NM_005149.2(TBX19): c.603+15G> T single nucleotide variant Uncertain significance rs886045513 GRCh37 Chromosome 1, 168262531: 168262531
35 TBX19 NM_005149.2(TBX19): c.603+47_603+48delGT deletion Uncertain significance rs57039241 GRCh37 Chromosome 1, 168262563: 168262564
36 TBX19 NM_005149.2(TBX19): c.603+47_603+48delGT deletion Uncertain significance rs57039241 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 rs138050448 GRCh37 Chromosome 1, 168281935: 168281935
42 TBX19 NM_005149.2(TBX19): c.1053-11dupT duplication Uncertain significance rs138050448 GRCh38 Chromosome 1, 168312697: 168312697
43 TBX19 NM_005149.2(TBX19): c.*621_*623delCTC deletion Uncertain significance rs780261050 GRCh38 Chromosome 1, 168313623: 168313625
44 TBX19 NM_005149.2(TBX19): c.*621_*623delCTC deletion Uncertain significance rs780261050 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
Sources

Expression for Acth Deficiency, Isolated

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

Pathways for Acth Deficiency, Isolated

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

# Super pathways Score Top Affiliating Genes
1
Corticotropin-releasing hormone signaling pathway 1
11.1 CRH POMC TBX19
2
Glucocorticoid Pathway (HPA Axis), Pharmacodynamics 62
9.47 CRH POMC
Sources

GO Terms for Acth Deficiency, Isolated

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 8.92 LHX4 NFKB2 POMC TBX19

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

Sources for Acth Deficiency, Isolated

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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