IAD
MCID: ACT238
MIFTS: 53

Acth Deficiency, Isolated (IAD)

Categories: Endocrine diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Acth Deficiency, Isolated

MalaCards integrated aliases for Acth Deficiency, Isolated:

Name: Acth Deficiency, Isolated 57 19 73 5 38 71
Adrenocorticotropic Hormone Deficiency 57 11 73 12 43 14 16 75 33
Congenital Isolated Acth Deficiency 19 58
Iad 57 73
Isolated Adrenocorticotropic Hormone Deficiency 19
Adrenocorticotropic Hormone [acth] Deficiency 33
Adrenocorticotropic Hormone Deficiency 71
Secondary Adrenocortical Insufficiency 33
Isolated Acth Deficiency 19

Characteristics:


Inheritance:

Acth Deficiency, Isolated: Autosomal recessive 57
Congenital Isolated Acth Deficiency: Autosomal recessive 58

Age Of Onset:

Congenital Isolated Acth Deficiency: Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
approximately 25% of patients die in infancy


Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 11 DOID:0080150
OMIM® 57 201400
ICD10 via Orphanet 32 E23.6
Orphanet 58 ORPHA199296
ICD11 33 538301537
UMLS 71 C0271583 C0342388

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) (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...

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:



Diseases related to Acth Deficiency, Isolated

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

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

Genetic Tests for Acth Deficiency, Isolated

Anatomical Context for Acth Deficiency, Isolated

Organs/tissues related to Acth Deficiency, Isolated:

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

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
22170728 2012
2
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations. 62 57 5
15613420 2005
3
A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins. 57 5
11290323 2001
4
Isolated familial adrenocorticotropin deficiency: prenatal diagnosis by maternal plasma estriol assay. 57 5
2830787 1988
5
The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: protein interactions. 62 5
17652218 2007
6
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. 62 5
15476446 2004
7
Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. 62 5
12651888 2003
8
Linkage of congenital isolated adrenocorticotropic hormone deficiency to the corticotropin releasing hormone locus using simple sequence repeat polymorphisms. 62 57
8882784 1996
9
Isolated ACTH deficiency: enzyme defect or chimaeric enzyme? 62 57
8222302 1993
10
Isolated congenital ACTH deficiency: a cleavage enzyme defect? 62 57
8222301 1993
11
Isolated ACTH deficiency. Metabolic and endocrine studies in a 7-year-old boy. 62 57
210721 1978
12
[Selective ACTH deficiency in two siblings (author's transl)]. 62 57
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
4295129 1968
14
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. 5
30576320 2018
15
Isolated corticotropin deficiency. 57
6314808 1983
16
Hypoadrenotropism: the isolated deficiency of adrenotropic hormone. 57
14428277 1960
17
A Successful Case of Hepatocellular Carcinoma Treated with Atezolizumab Plus Bevacizumab with Multisystem Immune-related Adverse Events. 62
35491133 2022
18
The late effects of cranial irradiation in childhood on the hypothalamic-pituitary axis: a radiotherapist's perspective. 62
36269600 2022
19
Natural course of Rathke's cleft cysts and risk factors for progression. 62
36057119 2022
20
A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period. 62
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
36232371 2022
22
[Isolated ACTH deficiency clinically presented as stiff-person syndrome, successfully treated by hormonal replacement: a case report]. 62
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
36153581 2022
24
HLA analysis of immune checkpoint inhibitor-induced and idiopathic isolated ACTH deficiency. 62
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
33870636 2022
26
Exploring a New Entity of Single-Agent Pembrolizumab-Associated Hypophysitis. 62
36127991 2022
27
[Clinical and genetic characteristics of congenital isolated adrenocorticotropic hormone deficiency]. 62
35768360 2022
28
Isolated ACTH deficiency following immunization with the BNT162b2 SARS-CoV-2 vaccine: a case report. 62
35854260 2022
29
Paraneoplastic autoimmune hypophysitis: An emerging concept. 62
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
35435206 2022
31
Hypereosinophilia is a predictive biomarker of immune checkpoint inhibitor-induced hypopituitarism in patients with renal cell carcinoma. 62
35468815 2022
32
Penetrating brain injury with hypopituitarism. 62
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
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
34609106 2022
35
Rare clinical problem - isolated ACTH deficiency associated with chronic alcohol abuse. 62
35971928 2022
36
Mechanistic insights into immune checkpoint inhibitor-related hypophysitis: a form of paraneoplastic syndrome. 62
33977343 2021
37
Onset of fulminant type‚ÄČ1 diabetes mellitus following hypophysitis after discontinuation of combined immunotherapy. A case report. 62
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
34285878 2021
39
Immunotherapy-induced isolated ACTH deficiency in cancer therapy. 62
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
34682890 2021
41
Clinical course and management of pembrolizumab-associated isolated adrenocorticotrophic hormone deficiency: a new case and literature review. 62
34387129 2021
42
Late-onset hypophysitis after discontinuation of nivolumab treatment for advanced skin melanoma: a case report. 62
34544399 2021
43
Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency. 62
34564059 2021
44
Isolated adrenocorticotropic hormone deficiency induced by nivolumab treatment for advanced gastric cancer. 62
33715100 2021
45
Isolated ACTH deficiency induced by cancer immunotherapy: a systematic review. 62
33761049 2021
46
Abdominal pain as an initial symptom of isolated ACTH deficiency induced by nivolumab in a patient with malignant mesothelioma. 62
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
34262010 2021
48
[A Case of Metachronous Occurrence of Interstitial Pneumonitis and Hypophysitis Following Nivolumab Plus Ipilimumab for Metastatic Renal Cell Carcinoma]. 62
34265899 2021
49
Heart Rate Variability in Postoperative Patients with Nonfunctioning Pituitary Adenoma. 62
34107675 2021
50
Pembrolizumab-Induced Hypophysitis With Isolated Adrenocorticotropic Hormone (ACTH) Deficiency: A Rare Immune-Mediated Adverse Event. 62
34123679 2021

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

Expression for Acth Deficiency, Isolated

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

Pathways for Acth Deficiency, Isolated

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 for Acth Deficiency, Isolated

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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