Acth Deficiency, Isolated disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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) (Updated 08-Dec-2022)

MalaCards based summary: Acth Deficiency, Isolated, also known as adrenocorticotropic hormone deficiency, is related to premature ovarian failure 7 and hypogonadism. An important gene associated with Acth Deficiency, Isolated is TBX19 (T-Box Transcription Factor 19), and among its related pathways/superpathways are Corticotropin-releasing hormone signaling pathway and Glucocorticoid receptor regulatory network. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include pituitary, adrenal cortex and thyroid, and related phenotypes are neonatal hypoglycemia and adrenocorticotropin deficient adrenal insufficiency

UniProtKB/Swiss-Prot: ⁷³ 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.

GARD: ¹⁹ A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated.

Orphanet: ⁵⁸ A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated.

Disease Ontology: ¹¹ A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.

Wikipedia: ⁷⁵ Adrenocorticotropic hormone deficiency (ACTH deficiency) is a result of a decreased or absent production... more...

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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 282)

#	Related Disease	Score	Top Affiliating Genes
1	premature ovarian failure 7	31.4	POMC CRH
2	hypogonadism	30.3	PROP1 PRL POMC
3	graves disease 1	30.2	TRH POMC
4	pituitary tumors	30.1	PROP1 PRL
5	inappropriate adh syndrome	30.1	PRL POMC CRH
6	pituitary-dependent cushing's disease	29.9	TRH PRL POMC CRH
7	thyroid crisis	29.9	POMC MTUS2 MTUS1
8	hyperprolactinemia	29.9	TRH PRL POMC
9	hyperthyroidism	29.8	TRH PRL POMC
10	amenorrhea	29.8	TRH PRL POMC CRH
11	acromegaly	29.7	TRH PRL POMC CRH
12	hypothalamic disease	29.6	TRH PRL POMC CRH
13	hypoglycemia	29.6	TRH PRL POMC CRH
14	major depressive disorder	29.5	TRH PRL POMC CRH
15	pituitary infarct	29.5	TRH TBX19 PRL POMC CRH
16	conn's syndrome	29.5	TRH TBX19 PRL POMC CRH
17	hypothyroidism, congenital, nongoitrous, 4	29.4	PROP1 PRL POU1F1 POMC
18	empty sella syndrome	29.3	TRH PROP1 PRL POU1F1 POMC LHX3
19	prolactinoma	29.2	TRH PRL POU1F1 POMC
20	pituitary adenoma	29.1	TRH PRL POU1F1 POMC CRH
21	isolated growth hormone deficiency	29.0	PROP1 POU1F1 LHX4 LHX3 HESX1
22	functioning pituitary adenoma	28.9	TRH TBX19 PRL POU1F1 POMC CRH
23	hypothyroidism	28.6	TRH PROP1 PRL POU1F1 POMC LHX4
24	sheehan syndrome	28.4	TRH PROP1 PRL POU1F1 POMC LHX4
25	pituitary hormone deficiency, combined, 2	28.1	TRH PROP1 PRL POU1F1 POMC LHX4
26	pituitary gland disease	28.1	TRH TBX19 PROP1 PRL POU1F1 POMC
27	hypopituitarism	27.9	TRH TBX19 PROP1 PRL POU1F1 POMC
28	immunodeficiency, common variable, 10	11.3
29	idiopathic ductopenia	11.0
30	irritant dermatitis	10.5
31	dermatitis	10.5
32	thyroiditis	10.4
33	hashimoto thyroiditis	10.3
34	waterhouse-friderichsen syndrome	10.3	POMC CRH
35	mediastinal lipomatosis	10.3	POMC CRH
36	somatization disorder	10.3	POMC CRH
37	hypothyroidism, congenital, nongoitrous, 1	10.3
38	melanoma	10.3
39	secondary adrenal insufficiency	10.3
40	acute stress disorder	10.3	POMC CRH
41	chiasmal syndrome	10.3	PRL POMC
42	atypical depressive disorder	10.3	POMC CRH
43	ocular motor apraxia	10.3
44	hypereosinophilic syndrome	10.3
45	tuberculum sellae meningioma	10.3	PRL POMC
46	sella turcica neoplasm	10.3	PRL POMC
47	neurotic disorder	10.2	POMC CRH
48	prolactin producing pituitary tumor	10.2	PRL POMC
49	retrograde amnesia	10.2	POMC CRH
50	abducens palsy	10.2	PRL POMC

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

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Symptoms & Phenotypes for Acth Deficiency, Isolated

Human phenotypes related to Acth Deficiency, Isolated:

⁵⁸ ³⁰ (show all 15)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	neonatal hypoglycemia ⁵⁸ ³⁰	Obligate (100%)	Obligate (100%)	HP:0001998
2	adrenocorticotropin deficient adrenal insufficiency ⁵⁸ ³⁰	Obligate (100%)	Obligate (100%)	HP:0011735
3	decreased circulating cortisol level ⁵⁸ ³⁰	Obligate (100%)	Obligate (100%)	HP:0008163
4	hypotension ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002615
5	fatigue ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0012378
6	hyponatremia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002902
7	adrenal hypoplasia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000835
8	prolonged neonatal jaundice ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0006579
9	hypoglycemic seizures ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002173
10	hepatitis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0012115
11	seizure ³⁰			HP:0001250
12	jaundice ³⁰			HP:0000952
13	hyperkalemia ⁵⁸		Excluded (0%)
14	adrenocorticotropic hormone deficiency ³⁰			HP:0011748
15	fasting hypoglycemia ³⁰			HP:0003162

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Acth Deficiency, Isolated:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.9	CRH HESX1 LHX3 LHX4 POMC POU1F1
2	homeostasis/metabolism	MP:0005376	9.7	CRH LHX3 LHX4 NFKB2 POMC POU1F1
3	endocrine/exocrine gland	MP:0005379	9.4	CRH HESX1 LHX3 LHX4 MTUS1 NFKB2

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Drugs & Therapeutics for Acth Deficiency, Isolated

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

#	Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1	Immunoglobulins
2	Antibodies

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Isolated ACTH Deficiency in Patients With Hashimoto Thyroiditis	Completed	NCT00552487		synacthen

Search NIH Clinical Center for Acth Deficiency, Isolated

Cochrane evidence based reviews: adrenocorticotropic hormone deficiency

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Genetic Tests for Acth Deficiency, Isolated

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Anatomical Context for Acth Deficiency, Isolated

Organs/tissues related to Acth Deficiency, Isolated:

MalaCards : Pituitary, Adrenal Cortex, Thyroid, Lung, Brain, Pineal, Cortex

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Publications for Acth Deficiency, Isolated

Articles related to Acth Deficiency, Isolated:

(show top 50) (show all 485)

#	Title	Authors	PMID	Year
1	Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations. ⁶² ⁵⁷ ⁵	Couture C...Vallette S	22170728	2012
2	Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations. ⁶² ⁵⁷ ⁵	Vallette-Kasic S...Drouin J	15613420	2005
3	A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins. ⁵⁷ ⁵	Lamolet B...Drouin J	11290323	2001
4	Isolated familial adrenocorticotropin deficiency: prenatal diagnosis by maternal plasma estriol assay. ⁵⁷ ⁵	Malpuech G...Guiot F	2830787	1988
5	The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: protein interactions. ⁶² ⁵	Vallette-Kasic S...Drouin J	17652218	2007
6	TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. ⁶² ⁵	Metherell LA...Clark AJ	15476446	2004
7	Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. ⁶² ⁵	Pulichino AM...Drouin J	12651888	2003
8	Linkage of congenital isolated adrenocorticotropic hormone deficiency to the corticotropin releasing hormone locus using simple sequence repeat polymorphisms. ⁶² ⁵⁷	Kyllo JH...Donohoue PA	8882784	1996
9	Isolated ACTH deficiency: enzyme defect or chimaeric enzyme? ⁶² ⁵⁷	Funder JW...Smith AI	8222302	1993
10	Isolated congenital ACTH deficiency: a cleavage enzyme defect? ⁶² ⁵⁷	Nussey SS...Johnstone AP	8222301	1993
11	Isolated ACTH deficiency. Metabolic and endocrine studies in a 7-year-old boy. ⁶² ⁵⁷	Aynsley-Green A...Storrs CN	210721	1978
12	[Selective ACTH deficiency in two siblings (author's transl)]. ⁶² ⁵⁷	Lucking T...Wilig RP	173514	1975
13	Hypoglycemia in a two-year-old boy with adrenocorticotropic hormone (ACTH) deficiency (probably isolated) and adrenal medullary unresponsiveness to insulin-induced hypoglycemia. ⁶² ⁵⁷	Hung W...Migeon CJ	4295129	1968
14	Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. ⁵	Weisschuh N...Zobor D	30576320	2018
15	Isolated corticotropin deficiency. ⁵⁷	Ichiba Y...Goto T	6314808	1983
16	Hypoadrenotropism: the isolated deficiency of adrenotropic hormone. ⁵⁷	ODELL WD...WILLIAMS RH	14428277	1960
17	A Successful Case of Hepatocellular Carcinoma Treated with Atezolizumab Plus Bevacizumab with Multisystem Immune-related Adverse Events. ⁶²	Hayashi H...Fujiya M	35491133	2022
18	The late effects of cranial irradiation in childhood on the hypothalamic-pituitary axis: a radiotherapist's perspective. ⁶²	Lovgren I...van Herk M	36269600	2022
19	Natural course of Rathke's cleft cysts and risk factors for progression. ⁶²	Kinoshita Y...Horie N	36057119	2022
20	A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period. ⁶²	Vieira IH...Mirante A	36070412	2022
21	Delayed Diagnosis of Congenital Combined Pituitary Hormone Deficiency including Severe Growth Hormone Deficiency in Children with Persistent Neonatal Hypoglycemia-Case Reports and Review. ⁶²	Smyczynska J...Lewinski A	36232371	2022
22	[Isolated ACTH deficiency clinically presented as stiff-person syndrome, successfully treated by hormonal replacement: a case report]. ⁶²	Taneda T...Fujita N	36031381	2022
23	Isolated adrenocorticotropic hormone deficiency associated with sintilimab therapy in a patient with advanced lung adenocarcinoma: a case report and literature review. ⁶²	Lin SH...Fang CT	36153581	2022
24	HLA analysis of immune checkpoint inhibitor-induced and idiopathic isolated ACTH deficiency. ⁶²	Ono M...Sugihara H	35653047	2022
25	Autoimmune polyendocrine syndrome type 3, characterized by autoimmune thyroid disease, type 1 diabetes mellitus, and isolated ACTH deficiency, developed during adjuvant nivolumab treatment. ⁶²	Takata M...Kabashima K	33870636	2022
26	Exploring a New Entity of Single-Agent Pembrolizumab-Associated Hypophysitis. ⁶²	Balti E...Coremans P	36127991	2022
27	[Clinical and genetic characteristics of congenital isolated adrenocorticotropic hormone deficiency]. ⁶²	Du M...Chen XB	35768360	2022
28	Isolated ACTH deficiency following immunization with the BNT162b2 SARS-CoV-2 vaccine: a case report. ⁶²	Morita S...Matsuoka TA	35854260	2022
29	Paraneoplastic autoimmune hypophysitis: An emerging concept. ⁶²	Bando H...Takahashi Y	34876362	2022
30	[Pituitary immune-related adverse events induced by programmed cell death protein 1 inhibitors in advanced lung cancer patients: A report of 3 cases]. ⁶²	Gu YC...Cao BS	35435206	2022
31	Hypereosinophilia is a predictive biomarker of immune checkpoint inhibitor-induced hypopituitarism in patients with renal cell carcinoma. ⁶²	Yamada H...Hara K	35468815	2022
32	Penetrating brain injury with hypopituitarism. ⁶²	Appelbaum RD...Carmichael SP	35280495	2022
33	Consideration on Tumor Progression After Discontinuation of Camrelizumab in a Patient With Advanced Hepatocellular Carcinoma Due to Isolated Adrenocorticotropic Hormone Deficiency. ⁶²	Ye D...Li B	35170500	2022
34	Disseminated Coccidioidomycosis as the First Presentation of a C-Terminal NFKB2 Pathogenic Variant: A Case Report and Review of the Literature. ⁶²	Perez Cavazos S...Zarate Hernandez MDC	34609106	2022
35	Rare clinical problem - isolated ACTH deficiency associated with chronic alcohol abuse. ⁶²	Skowronska-Jozwiak E...Lewinski A	35971928	2022
36	Mechanistic insights into immune checkpoint inhibitor-related hypophysitis: a form of paraneoplastic syndrome. ⁶²	Kanie K...Takahashi Y	33977343	2021
37	Onset of fulminant type 1 diabetes mellitus following hypophysitis after discontinuation of combined immunotherapy. A case report. ⁶²	Boswell L...Hanzu FA	34048145	2021
38	A case of secondary adrenocortical insufficiency due to isolated adrenocorticotropic hormone deficiency with empty sella syndrome after pembrolizumab treatment in a patient with metastatic renal pelvic cancer. ⁶²	Nagai T...Yasui T	34285878	2021
39	Immunotherapy-induced isolated ACTH deficiency in cancer therapy. ⁶²	Iglesias P...Diez JJ	34609950	2021
40	Real-World Incidence of Immune-Related Adverse Events Associated with Nivolumab Plus Ipilimumab in Patients with Advanced Renal Cell Carcinoma: A Retrospective Observational Study. ⁶²	Washino S...Kawakami S	34682890	2021
41	Clinical course and management of pembrolizumab-associated isolated adrenocorticotrophic hormone deficiency: a new case and literature review. ⁶²	Oguz SH...Erbas T	34387129	2021
42	Late-onset hypophysitis after discontinuation of nivolumab treatment for advanced skin melanoma: a case report. ⁶²	Antoniou S...Berg C	34544399	2021
43	Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency. ⁶²	Maudhoo A...Metherell LA	34564059	2021
44	Isolated adrenocorticotropic hormone deficiency induced by nivolumab treatment for advanced gastric cancer. ⁶²	Namikawa T...Hanazaki K	33715100	2021
45	Isolated ACTH deficiency induced by cancer immunotherapy: a systematic review. ⁶²	Iglesias P...Diez JJ	33761049	2021
46	Abdominal pain as an initial symptom of isolated ACTH deficiency induced by nivolumab in a patient with malignant mesothelioma. ⁶²	Hata K...Nagasaka Y	34290022	2021
47	Isolated Adrenocorticotropic Hormone Deficiency Associated with Severe Hyperkalemia During Pembrolizumab Therapy in a Patient with Ureteral Cancer and an Ileal Conduit: A Case Report and Literature Review. ⁶²	Hinata Y...Nishiyama T	34262010	2021
48	[A Case of Metachronous Occurrence of Interstitial Pneumonitis and Hypophysitis Following Nivolumab Plus Ipilimumab for Metastatic Renal Cell Carcinoma]. ⁶²	Hayase T...Miyagawa T	34265899	2021
49	Heart Rate Variability in Postoperative Patients with Nonfunctioning Pituitary Adenoma. ⁶²	Ha J...Lim DJ	34107675	2021
50	Pembrolizumab-Induced Hypophysitis With Isolated Adrenocorticotropic Hormone (ACTH) Deficiency: A Rare Immune-Mediated Adverse Event. ⁶²	Doodnauth AV...McFarlane SI	34123679	2021

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Genes for Acth Deficiency, Isolated

Genes related to Acth Deficiency, Isolated (2 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TBX19	T-Box Transcription Factor 19	Protein Coding	1589.42	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	2830787 11290323 12651888 (more) 15476446 15613420 17652218 22170728
2	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	400	Pathogenic ⁵	30576320
3	POMC	Proopiomelanocortin	Protein Coding	6.72	DISEASES inferred ¹⁴
4	CRH	Corticotropin Releasing Hormone	Protein Coding	6.06	DISEASES inferred ¹⁴
5	MIR3610	MicroRNA 3610	RNA Gene	6.05	DISEASES inferred ¹⁴
6	LHX3	LIM Homeobox 3	Protein Coding	5.88	DISEASES inferred ¹⁴
7	LHX4	LIM Homeobox 4	Protein Coding	5.71	DISEASES inferred ¹⁴
8	PRL	Prolactin	Protein Coding	5.64	DISEASES inferred ¹⁴
9	NFKB2	Nuclear Factor Kappa B Subunit 2	Protein Coding	5.57	DISEASES inferred ¹⁴
10	PROP1	PROP Paired-Like Homeobox 1	Protein Coding	5.54	DISEASES inferred ¹⁴
11	MTUS2	Microtubule Associated Scaffold Protein 2	Protein Coding	5.53	DISEASES inferred ¹⁴
12	MTUS1	Microtubule Associated Scaffold Protein 1	Protein Coding	5.52	DISEASES inferred ¹⁴
13	TRH	Thyrotropin Releasing Hormone	Protein Coding	5.24	DISEASES inferred ¹⁴
14	POU1F1	POU Class 1 Homeobox 1	Protein Coding	5.23	DISEASES inferred ¹⁴
15	HESX1	HESX Homeobox 1	Protein Coding	5.2	DISEASES inferred ¹⁴

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Variations for Acth Deficiency, Isolated

ClinVar genetic disease variations for Acth Deficiency, Isolated:

⁵ (show top 50) (show all 98)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TBX19	NM_005149.3(TBX19):c.383C>T (p.Ser128Phe)	SNV	Pathogenic	5441	rs74315377	GRCh37: 1:168260577-168260577 GRCh38: 1:168291339-168291339
2	TBX19	NM_005149.3(TBX19):c.257T>G (p.Met86Arg)	SNV	Pathogenic	5442	rs74315378	GRCh37: 1:168260451-168260451 GRCh38: 1:168291213-168291213
3	TBX19	NM_005149.3(TBX19):c.568C>T (p.Gln190Ter)	SNV	Pathogenic	488619	rs1553289042	GRCh37: 1:168262481-168262481 GRCh38: 1:168293243-168293243
4	TBX19	NM_005149.3(TBX19):c.158_159del (p.Arg53fs)	MICROSAT	Pathogenic	560672	rs763818059	GRCh37: 1:168250483-168250484 GRCh38: 1:168281245-168281246
5	TBX19	NM_005149.3(TBX19):c.265del (p.Leu89fs)	DEL	Pathogenic	560673	rs1558190339	GRCh37: 1:168260457-168260457 GRCh38: 1:168291219-168291219
6	TBX19	NM_005149.3(TBX19):c.627C>G (p.Tyr209Ter)	SNV	Pathogenic	561125	rs140528998	GRCh37: 1:168266985-168266985 GRCh38: 1:168297747-168297747
7	TBX19	NM_005149.3(TBX19):c.665+1del	DEL	Pathogenic	560675	rs1558192351	GRCh37: 1:168267023-168267023 GRCh38: 1:168297785-168297785
8	TBX19	NM_005149.3(TBX19):c.688G>T (p.Glu230Ter)	SNV	Pathogenic	1676659		GRCh37: GRCh38:
9	TBX19	NM_005149.3(TBX19):c.665+1G>T	SNV	Pathogenic	1687306		GRCh37: 1:168267024-168267024 GRCh38: 1:168297786-168297786
10	TBX19	K146R	VAR	Pathogenic	495297		GRCh37: GRCh38:
11	TBX19	NM_005149.3(TBX19):c.856C>T (p.Arg286Ter)	SNV	Pathogenic	5440	rs74315376	GRCh37: 1:168274374-168274374 GRCh38: 1:168305136-168305136
12	TBX19	NM_005149.3(TBX19):c.782del (p.Asn261fs)	DEL	Pathogenic	5443	rs730880274	GRCh37: 1:168274299-168274299 GRCh38: 1:168305061-168305061
13	RPE65	NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter)	SNV	Pathogenic	587393	rs988133284	GRCh37: 1:68904907-68904907 GRCh38: 1:68439224-68439224
14	TBX19	NM_005149.3(TBX19):c.608C>T (p.Thr203Met)	SNV	Likely Pathogenic	828166	rs748717639	GRCh37: 1:168266966-168266966 GRCh38: 1:168297728-168297728
15	TBX19	NM_005149.3(TBX19):c.206G>A (p.Arg69Gln)	SNV	Likely Pathogenic	1283918		GRCh37: 1:168260400-168260400 GRCh38: 1:168291162-168291162
16	TBX19	NM_005149.3(TBX19):c.601G>T (p.Glu201Ter)	SNV	Likely Pathogenic	1325176		GRCh37: 1:168262514-168262514 GRCh38: 1:168293276-168293276
17	TBX19	NM_005149.3(TBX19):c.204-3T>C	SNV	Conflicting Interpretations Of Pathogenicity	293456	rs200043223	GRCh37: 1:168260395-168260395 GRCh38: 1:168291157-168291157
18	RPE65	NM_000329.3(RPE65):c.110G>C (p.Trp37Ser)	SNV	Uncertain Significance	587390	rs1557603965	GRCh37: 1:68912528-68912528 GRCh38: 1:68446845-68446845
19	RPE65	NM_000329.3(RPE65):c.722A>G (p.His241Arg)	SNV	Uncertain Significance	587391	rs1557600322	GRCh37: 1:68905247-68905247 GRCh38: 1:68439564-68439564
20	RPE65	NM_000329.3(RPE65):c.203A>C (p.His68Pro)	SNV	Uncertain Significance	587392	rs1557603862	GRCh37: 1:68912435-68912435 GRCh38: 1:68446752-68446752
21	TBX19	NM_005149.3(TBX19):c.603+15G>T	SNV	Uncertain Significance	293474	rs886045513	GRCh37: 1:168262531-168262531 GRCh38: 1:168293293-168293293
22	TBX19	NM_005149.3(TBX19):c.603+10_603+11insTTGTGT	INSERT	Uncertain Significance	293466	rs746785887	GRCh37: 1:168262522-168262523 GRCh38: 1:168293284-168293285
23	TBX19	NM_005149.3(TBX19):c.603+7GT[23]	MICROSAT	Uncertain Significance	293463	rs57039241	GRCh37: 1:168262522-168262523 GRCh38: 1:168293284-168293285
24	TBX19	NM_005149.3(TBX19):c.603+7GT[18]	MICROSAT	Uncertain Significance	293469	rs57039241	GRCh37: 1:168262523-168262528 GRCh38: 1:168293285-168293290
25	TBX19	NM_005149.3(TBX19):c.932G>A (p.Ser311Asn)	SNV	Uncertain Significance	874041	rs1649461770	GRCh37: 1:168277995-168277995 GRCh38: 1:168308757-168308757
26	TBX19	NM_005149.3(TBX19):c.840G>A (p.Glu280=)	SNV	Uncertain Significance	874040	rs753572197	GRCh37: 1:168274358-168274358 GRCh38: 1:168305120-168305120
27	TBX19	NM_005149.3(TBX19):c.814G>T (p.Ala272Ser)	SNV	Uncertain Significance	874039	rs752325337	GRCh37: 1:168274332-168274332 GRCh38: 1:168305094-168305094
28	TBX19	NM_005149.3(TBX19):c.779C>T (p.Ser260Phe)	SNV	Uncertain Significance	874038	rs1215287541	GRCh37: 1:168274297-168274297 GRCh38: 1:168305059-168305059
29	TBX19	NM_005149.3(TBX19):c.724C>T (p.His242Tyr)	SNV	Uncertain Significance	874037	rs202072731	GRCh37: 1:168269718-168269718 GRCh38: 1:168300480-168300480
30	TBX19	NM_005149.3(TBX19):c.603+13G>T	SNV	Uncertain Significance	293473	rs762160668	GRCh37: 1:168262529-168262529 GRCh38: 1:168293291-168293291
31	TBX19	NM_005149.3(TBX19):c.1053-11dup	DUP	Uncertain Significance	293479	rs138050448	GRCh37: 1:168281934-168281935 GRCh38: 1:168312696-168312697
32	TBX19	NM_005149.3(TBX19):c.603+7GT[22]	MICROSAT	Uncertain Significance	293462	rs57039241	GRCh37: 1:168262522-168262523 GRCh38: 1:168293284-168293285
33	TBX19	NM_005149.3(TBX19):c.603+7GT[19]	MICROSAT	Uncertain Significance	293468	rs57039241	GRCh37: 1:168262523-168262526 GRCh38: 1:168293285-168293288
34	TBX19	NM_005149.3(TBX19):c.603+7GT[20]	MICROSAT	Uncertain Significance	293467	rs57039241	GRCh37: 1:168262523-168262524 GRCh38: 1:168293285-168293286
35	TBX19	NM_005149.3(TBX19):c.603+7GT[24]	MICROSAT	Uncertain Significance	293464	rs57039241	GRCh37: 1:168262522-168262523 GRCh38: 1:168293284-168293285
36	TBX19	NM_005149.3(TBX19):c.916+2T>G	SNV	Uncertain Significance	560676	rs763382655	GRCh37: 1:168274436-168274436 GRCh38: 1:168305198-168305198
37	TBX19	NM_005149.3(TBX19):c.1310C>T (p.Ala437Val)	SNV	Uncertain Significance	560677	rs147003438	GRCh37: 1:168282203-168282203 GRCh38: 1:168312965-168312965
38	TBX19	NM_005149.3(TBX19):c.*1109dup	DUP	Uncertain Significance	293498	rs550552066	GRCh37: 1:168283347-168283348 GRCh38: 1:168314109-168314110
39	TBX19	NM_005149.3(TBX19):c.535C>T (p.Arg179Ter)	SNV	Uncertain Significance	293458	rs200197424	GRCh37: 1:168262448-168262448 GRCh38: 1:168293210-168293210
40	TBX19	NM_005149.3(TBX19):c.377C>T (p.Pro126Leu)	SNV	Uncertain Significance	828147	rs753455443	GRCh37: 1:168260571-168260571 GRCh38: 1:168291333-168291333
41	TBX19	NM_005149.3(TBX19):c.*809A>G	SNV	Uncertain Significance	874091	rs962423588	GRCh37: 1:168283049-168283049 GRCh38: 1:168313811-168313811
42	TBX19	NM_005149.3(TBX19):c.*954C>T	SNV	Uncertain Significance	874092	rs140853969	GRCh37: 1:168283194-168283194 GRCh38: 1:168313956-168313956
43	TBX19	NM_005149.3(TBX19):c.*1026T>C	SNV	Uncertain Significance	874093	rs945775793	GRCh37: 1:168283266-168283266 GRCh38: 1:168314028-168314028
44	TBX19	NM_005149.3(TBX19):c.*1204T>C	SNV	Uncertain Significance	874094	rs548141259	GRCh37: 1:168283444-168283444 GRCh38: 1:168314206-168314206
45	TBX19	NM_005149.3(TBX19):c.1090G>A (p.Gly364Arg)	SNV	Uncertain Significance	874970	rs199644548	GRCh37: 1:168281983-168281983 GRCh38: 1:168312745-168312745
46	TBX19	NM_005149.3(TBX19):c.1165A>G (p.Thr389Ala)	SNV	Uncertain Significance	874971	rs144416092	GRCh37: 1:168282058-168282058 GRCh38: 1:168312820-168312820
47	TBX19	NM_005149.3(TBX19):c.*88G>A	SNV	Uncertain Significance	875894	rs980005154	GRCh37: 1:168282328-168282328 GRCh38: 1:168313090-168313090
48	TBX19	NM_005149.3(TBX19):c.*258A>C	SNV	Uncertain Significance	875895	rs771131598	GRCh37: 1:168282498-168282498 GRCh38: 1:168313260-168313260
49	TBX19	NM_005149.3(TBX19):c.*273A>G	SNV	Uncertain Significance	875896	rs755252476	GRCh37: 1:168282513-168282513 GRCh38: 1:168313275-168313275
50	TBX19	NM_005149.3(TBX19):c.310G>A (p.Val104Ile)	SNV	Uncertain Significance	876840	rs762183325	GRCh37: 1:168260504-168260504 GRCh38: 1:168291266-168291266

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

⁷³

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

Sources

Expression for Acth Deficiency, Isolated

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

Sources

Pathways for Acth Deficiency, Isolated

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

#	Super pathways	Score	Top Affiliating Genes
1	Corticotropin-releasing hormone signaling pathway ⁷⁴	11.29	TBX19 POMC CRH
2	Glucocorticoid receptor regulatory network ⁶¹	11.02	PRL POU1F1 POMC
3	Development_Leptin signaling via JAK/STAT and MAPK cascades ²² Show member pathways phospho-PLA2 pathway ⁶⁶	10.85	TRH POMC
4	Serotonin and anxiety ⁷⁴ Show member pathways Serotonin and anxiety-related events ⁷⁴	10.78	POMC CRH
5	Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics ⁶⁰	10.56	PRL POMC
6	Glucocorticoid Pathway (HPA Axis), Pharmacodynamics ⁶⁰	9.47	POMC CRH

Sources

GO Terms for Acth Deficiency, Isolated

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

#	Name	GO ID	Score	Top Affiliating Genes
1	chromatin	GO:0000785	9.47	TBX19 PROP1 POU1F1 NFKB2 LHX4 LHX3

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	10.21	TBX19 PROP1 POU1F1 POMC NFKB2 LHX4
2	regulation of DNA-templated transcription	GO:0006355	9.91	TBX19 PROP1 POU1F1 NFKB2 LHX4 LHX3
3	adenohypophysis development	GO:0021984	9.5	PROP1 POU1F1
4	somatotropin secreting cell differentiation	GO:0060126	9.46	PROP1 LHX3
5	medial motor column neuron differentiation	GO:0021526	9.26	LHX4 LHX3
6	pituitary gland development	GO:0021983	9.1	TBX19 PROP1 LHX3 HESX1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	10.1	TBX19 PROP1 POU1F1 NFKB2 LHX4 LHX3
2	sequence-specific double-stranded DNA binding	GO:1990837	9.93	HESX1 LHX4 NFKB2 POU1F1 PROP1 TBX19
3	DNA-binding transcription activator activity, RNA polymerase II-specific	GO:0001228	9.73	TBX19 PROP1 POU1F1 NFKB2 LHX4 LHX3
4	hormone activity	GO:0005179	9.17	TRH PRL POMC CRH

Sources

Sources for Acth Deficiency, Isolated

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

IAD MCID: ACT238 MIFTS: 53	Acth Deficiency, Isolated (IAD) Categories: Endocrine diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Acth Deficiency, Isolated (IAD)

Aliases & Classifications for Acth Deficiency, Isolated

MalaCards integrated aliases for Acth Deficiency, Isolated:

Characteristics:

Inheritance:

Age Of Onset:

OMIM®:

Classifications:

External Ids:

Summaries for Acth Deficiency, Isolated

Related Diseases for Acth Deficiency, Isolated

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

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

Symptoms & Phenotypes for Acth Deficiency, Isolated

Human phenotypes related to Acth Deficiency, Isolated:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Acth Deficiency, Isolated:

Drugs & Therapeutics for Acth Deficiency, Isolated

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

Interventional clinical trials:

Cochrane evidence based reviews: adrenocorticotropic hormone deficiency

Genetic Tests for Acth Deficiency, Isolated

Anatomical Context for Acth Deficiency, Isolated

Organs/tissues related to Acth Deficiency, Isolated:

Publications for Acth Deficiency, Isolated

Articles related to Acth Deficiency, Isolated:

Genes for Acth Deficiency, Isolated

Genes related to Acth Deficiency, Isolated (2 elite genes):

Variations for Acth Deficiency, Isolated

ClinVar genetic disease variations for Acth Deficiency, Isolated:

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

Expression for Acth Deficiency, Isolated

Pathways for Acth Deficiency, Isolated

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

GO Terms for Acth Deficiency, Isolated

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

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

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

Sources for Acth Deficiency, Isolated