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MCID: ACT238
MIFTS: 48

Acth Deficiency, Isolated

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

Aliases & Classifications for Acth Deficiency, Isolated

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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:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare endocrine diseases


External Ids:

OMIM 57 201400
Disease Ontology 12 DOID:0080150
Orphanet 59 ORPHA199296
ICD10 via Orphanet 34 E23.6
MeSH 44 D007018
KEGG 37 H01011
Sources

Summaries for Acth Deficiency, Isolated

About this section
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 lymphocytic hypophysitis and hypothyroidism. 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 Butyric Acid 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 : 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.

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 61)
# Related Disease Score Top Affiliating Genes
1 lymphocytic hypophysitis 30.5 POMC TBX19
2 hypothyroidism 29.7 IGSF1 POMC TRHR
3 hypopituitarism 29.6 CRH POMC
4 late-onset isolated acth deficiency 12.2
5 idiopathic ductopenia 10.9
6 thyroid gland disease 10.2 IGSF1 POMC
7 thyroiditis 10.2
8 hypothalamic disease 10.2 CRH POMC
9 pituitary carcinoma 10.2 CRH POMC
10 nelson syndrome 10.2 CRH POMC
11 sheehan syndrome 10.2 CRH POMC
12 hypoadrenalism 10.2 CRH POMC
13 fasting hypoglycemia 10.1 CRH POMC
14 adrenal cortical hypofunction 10.1 CRH POMC
15 withdrawal disorder 10.1 CRH POMC
16 adrenal cortex disease 10.1 CRH POMC
17 adrenal gland disease 10.1 CRH POMC
18 ectopic cushing syndrome 10.1 CRH POMC
19 persistent fetal circulation syndrome 10.1 CRH POMC
20 pituitary adenoma, prolactin-secreting 10.1 POMC TRHR
21 premenstrual tension 10.1 CRH POMC
22 pituitary-dependent cushing's disease 10.1 CRH POMC
23 endocrine organ benign neoplasm 10.1 CRH POMC
24 endogenous depression 10.1 CRH POMC
25 hypoadrenocorticism, familial 10.1 CRH POMC
26 adrenal gland hyperfunction 10.1 CRH POMC
27 mental depression 10.1 CRH POMC
28 pituitary gland disease 10.0 CRH POMC
29 adrenal adenoma 10.0 CRH POMC
30 gonadal disease 10.0 CRH POMC
31 adrenal carcinoma 10.0 CRH POMC
32 diabetes insipidus 10.0 CRH POMC
33 amenorrhea 10.0 CRH POMC
34 eating disorder 10.0 CRH POMC
35 drug dependence 9.9 CRH POMC
36 cholestasis 9.9
37 dermatitis 9.9
38 gastric cancer 9.9
39 common variable immunodeficiency 9.9
40 growth hormone deficiency 9.9
41 depression 9.9
42 chronic fatigue syndrome 9.9 CRH POMC
43 urinary system disease 9.9 CRH POMC
44 disease of mental health 9.8 CRH POMC
45 west syndrome 9.8 CRH POMC
46 lung cancer 9.8
47 major depressive disorder 9.8
48 leukemia, acute lymphoblastic 9.8
49 hyperprolactinemia 9.8
50 diabetes mellitus 9.8

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

About this section

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

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 TBX19 TRHR CRH IGSF1 NFKB2 POMC
3 homeostasis/metabolism MP:0005376 9.43 CRH IGSF1 NFKB2 POMC TBX19 TRHR
4 integument MP:0010771 8.92 CRH NFKB2 POMC 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 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
2
Butyric Acid Experimental, Investigational Phase 4 107-92-6 264
3 Cortisol succinate Phase 4
4 Hydrocortisone 17-butyrate 21-propionate Phase 4
5 Hydrocortisone acetate Phase 4
6 Anti-Inflammatory Agents Phase 4
7 Hydrocortisone-17-butyrate Phase 4
8
Cosyntropin Approved 16960-16-0 16129617
9
Epinephrine Approved, Vet_approved 51-43-4 5816
10
Racepinephrine Approved 329-65-7 838
11 Adrenocorticotropic Hormone Not Applicable
12 Antibodies Not Applicable
13 beta-endorphin Not Applicable
14 Hormone Antagonists Not Applicable
15 Hormones Not Applicable
16 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
17 Immunoglobulins Not Applicable
18 Melanocyte-Stimulating Hormones Not Applicable
19 Adrenergic Agents
20 Adrenergic Agonists
21 Adrenergic alpha-Agonists
22 Adrenergic beta-Agonists
23 Anti-Asthmatic Agents
24 Autonomic Agents
25 Bronchodilator Agents
26 Epinephryl borate
27 Mydriatics
28 Neurotransmitter Agents
29 Peripheral Nervous System Agents
30 Respiratory System Agents
31 Vasoconstrictor Agents
32 Complement Factor I
33 insulin
34 Insulin, Globin Zinc
35 Mitogens

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Modified-release Compared to Conventional Hydrocortisone on Diurnal Fatigue in Secondary Hypoadrenalism Enrolling by invitation NCT02282150 Phase 4 Hydrocortisone;Plenadren
2 Isolated ACTH Deficiency in Patients With Hashimoto Thyroiditis Completed NCT00552487 Not Applicable synacthen
3 Adrenal Function in Critical Illness Completed NCT00156767
4 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 29 TBX19
Sources

Anatomical Context for Acth Deficiency, Isolated

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MalaCards organs/tissues related to Acth Deficiency, Isolated:

41
Pituitary, Thyroid, Lung, Testes, Heart
Sources

Publications for Acth Deficiency, Isolated

About this section

Articles related to Acth Deficiency, Isolated:

(show all 36)
# Title Authors Year
1
A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections. ( 28458651 )
2017
2
Isolated Adrenocorticotropic Hormone Deficiency Following Chronic Subdural Hematoma in an Elderly Man: Is There a Connection? ( 28768968 )
2017
3
Isolated Adrenocorticotropic Hormone Deficiency Caused by Nivolumab in a Patient with Metastatic Lung Cancer. ( 28824067 )
2017
4
Treatable Bedridden Elderly -Recovery from Flexion Contracture after Cortisol Replacement in a Patient with Isolated Adrenocorticotropic Hormone Deficiency. ( 27746435 )
2016
5
NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature. ( 27749582 )
2016
6
Isolated adrenocorticotropic hormone deficiency possibly caused by nivolumab in a metastatic melanoma patient. ( 27440178 )
2016
7
Isolated adrenocorticotropic hormone deficiency associated with nivolumab therapy. ( 27608187 )
2016
8
A case of isolated adrenocorticotropic hormone deficiency: a rare but possible cause of hypercalcemia. ( 25870516 )
2015
9
Long QT Syndrome Associated with Adrenal Insufficiency in a Patient with Isolated Adrenocorticotropic Hormone Deficiency. ( 25318797 )
2014
10
Isolated adrenocorticotropic hormone deficiency development during chemotherapy for gastric cancer: a case report. ( 24597969 )
2014
11
Heart Failure Caused by Atrial Fibrillation in a Patient with Isolated Adrenocorticotropic Hormone Deficiency and Hashimoto's Thyroiditis. ( 25774257 )
2014
12
Isolated adrenocorticotropic hormone deficiency due to probable lymphocytic hypophysitis in a woman. ( 24251125 )
2013
13
Depressive state due to isolated adrenocorticotropic hormone deficiency underlies school refusal. ( 22443249 )
2012
14
Isolated adrenocorticotropic hormone deficiency associated with Hashimoto's disease and thyroid crisis triggered by head trauma. Case report. ( 22278027 )
2012
15
Case of isolated adrenocorticotropic hormone deficiency mimicking major depressive disorder. ( 21507142 )
2011
16
Is adrenocorticotropic hormone deficiency really rare in patients with idiopathic growth hormone deficiency and normal thyroid function tests? ( 21042000 )
2011
17
Isolated adrenocorticotropic hormone deficiency accompanied with delirium. ( 19566778 )
2009
18
Improved response of growth hormone to growth hormone-releasing hormone and reversible chronic thyroiditis after hydrocortisone replacement in isolated adrenocorticotropic hormone deficiency. ( 21318995 )
2009
19
Type 2 diabetes mellitus accompanied by isolated adrenocorticotropic hormone deficiency and gastric cancer. ( 19525593 )
2009
20
Gene symbol: TBX19. Disease: ACTH deficiency, isolated? ( 20960606 )
2008
21
Isolated adrenocorticotropic hormone deficiency presenting as an acute neurologic emergency in a peripubertal girl. ( 18825881 )
2008
22
Isolated adrenocorticotropic hormone deficiency presenting with psychomotor retardation. ( 17587281 )
2007
23
Isolated adrenocorticotropic hormone deficiency with transient thyroiditis inducing an adrenal crisis. ( 17409760 )
2007
24
Isolated adrenocorticotropic hormone deficiency presenting with delirium. ( 17728437 )
2007
25
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
26
Isolated adrenocorticotropic hormone deficiency presenting with hypercalcemia in a patient on long-term hemodialysis. ( 12900850 )
2003
27
Development of growth hormone and adrenocorticotropic hormone deficiencies in patients with prenatal or perinatal-onset hypothalamic hypopituitarism having invisible or thin pituitary stalk on magnetic resonance imaging. ( 11523907 )
2001
28
Isolated adrenocorticotropic hormone deficiency, thyroid autoimmunity, and transient hyperprolactinemia. ( 11421554 )
2001
29
Reversibly increased lymphocyte response to mitogens in a young man with isolated adrenocorticotropic hormone deficiency. ( 9144012 )
1997
30
Isolated adrenocorticotropic hormone deficiency: an autopsy case of adrenal crisis. A case report. ( 9185943 )
1997
31
Acute lymphoblastic leukemia with isolated adrenocorticotropic hormone deficiency. ( 9392357 )
1997
32
Linkage of congenital isolated adrenocorticotropic hormone deficiency to the corticotropin releasing hormone locus using simple sequence repeat polymorphisms. ( 8882784 )
1996
33
Isolated adrenocorticotropic hormone deficiency associated with growth hormone deficiency and empty sella. ( 7496087 )
1995
34
Isolated adrenocorticotropic hormone deficiency due to probable lymphocytic hypophysitis in a man. ( 8006333 )
1994
35
Isolated adrenocorticotropic hormone deficiency secondary to hypothalamic deficit of corticotropin releasing hormone. ( 1313844 )
1992
36
Isolated adrenocorticotropic hormone deficiency associated with common variable immunodeficiency. ( 1645668 )
1991
Sources

Variations for Acth Deficiency, Isolated

About this section

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 117)
# 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 GRCh37 Chromosome 1, 168282861: 168282863
44 TBX19 NM_005149.2(TBX19): c.*621_*623delCTC deletion Uncertain significance rs886045517 GRCh38 Chromosome 1, 168313623: 168313625
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
10.77 CRH POMC TBX19
2
Glucocorticoid Pathway (HPA Axis), Pharmacodynamics 61
9.8 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 signal transduction GO:0007165 9.02 CRH IGSF1 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 8.96 CRH POMC
2 neuropeptide hormone activity GO:0005184 8.62 CRH POMC
Sources

Sources for Acth Deficiency, Isolated

About this section
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
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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