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IAD
MCID: ACT238
MIFTS: 52

Acth Deficiency, Isolated (IAD)

Categories: Endocrine diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Acth Deficiency, Isolated

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MalaCards integrated aliases for Acth Deficiency, Isolated:

Name: Acth Deficiency, Isolated 57 20 72 39 70
Adrenocorticotropic Hormone Deficiency 57 12 72 36 29 13 6 44 15 17
Congenital Isolated Acth Deficiency 20 58
Iad 57 72
Isolated Adrenocorticotropic Hormone Deficiency 20
Adrenocorticotropic Hormone Deficiency 70
Isolated Acth Deficiency 20

Characteristics:

Orphanet epidemiological data:

58
congenital isolated acth deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
acth deficiency, isolated:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0080150
OMIM® 57 201400
KEGG 36 H01011
ICD10 via Orphanet 33 E23.6
Orphanet 58 ORPHA199296
UMLS 70 C0271583 C0342388
Sources

Summaries for Acth Deficiency, Isolated

About this section
KEGG : 36 Isolated adrenocorticotropic hormone deficiency (IAD) is a rare disease characterized by low plasma ACTH and cortisol levels and preservation of all other pituitary hormones, that may be an underestimated cause of neonatal death. Recently, loss-of-function mutations in the human TPIT (TBX19) gene were detected in IAD. TPIT is a T-box transcription factor with a specific role in differentiation of the corticotroph lineage. It has been reported that TPIT mutations are responsible for two thirds of neonatal-onset complete IAD but can not be detected in partial or late-onset IAD.

MalaCards based summary : Acth Deficiency, Isolated, also known as adrenocorticotropic hormone deficiency, is related to lymphocytic hypophysitis and fasting hypoglycemia. 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, lung and thyroid, and related phenotypes are neonatal hypoglycemia and adrenocorticotropin deficient adrenal insufficiency

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

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 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 211)
# Related Disease Score Top Affiliating Genes
1 lymphocytic hypophysitis 30.8 TBX19 POMC
2 fasting hypoglycemia 30.5 POMC CRH
3 autosomal dominant nocturnal frontal lobe epilepsy 30.3 TBX19 RPE65 CRH
4 pituitary tumors 30.0 PROP1 PRL POMC
5 hypoglycemia 29.8 PRL POMC CRH
6 graves disease 1 29.8 TRH POMC
7 hypogonadism 29.7 PROP1 PROKR2 PRL
8 hypothyroidism, congenital, nongoitrous, 4 29.6 PROP1 PRL POU1F1 POMC
9 hyperprolactinemia 29.6 TRH PRL POMC
10 hyperthyroidism 29.5 TRH PRL POMC
11 adenohypophysitis 29.5 TRH PRL POMC
12 amenorrhea 29.5 TRH PRL POMC CRH
13 empty sella syndrome 29.4 TRH PROP1 PRL POMC LHX3
14 pituitary infarct 29.4 TRH PRL POMC CRH
15 hypothalamic disease 29.3 TRH PRL POMC CRH
16 pituitary adenoma, prolactin-secreting 29.2 TRH PRL POU1F1 POMC
17 hypothyroidism 28.5 TRH PROP1 PRL POU1F1 POMC LHX4
18 sheehan syndrome 28.2 TRH PROP1 PRL POMC LHX4 HESX1
19 pituitary hormone deficiency, combined, 2 27.6 TRH PROP1 PROKR2 PRL POU1F1 POMC
20 pituitary gland disease 27.4 TRH TBX19 PROP1 PRL POU1F1 POMC
21 hypopituitarism 26.9 TRH TBX19 PROP1 PROKR2 PRL POU1F1
22 idiopathic ductopenia 11.0
23 thyroiditis 10.4
24 dermatitis 10.4
25 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
26 melanoma 10.3
27 somatization disorder 10.3 POMC CRH
28 hypereosinophilic syndrome 10.2
29 neonatal thyrotoxicosis 10.2 PROP1 LHX3
30 atypical depressive disorder 10.2 POMC CRH
31 adjustment disorder 10.2 POMC CRH
32 inappropriate adh syndrome 10.2 POMC CRH
33 acute stress disorder 10.2 POMC CRH
34 tuberculum sellae meningioma 10.2 PRL POMC
35 sella turcica neoplasm 10.2 PRL POMC
36 acute adrenal insufficiency 10.2
37 common variable immunodeficiency 10.2
38 secondary adrenal insufficiency 10.2
39 prolactin producing pituitary tumor 10.2 PRL POMC
40 abducens nerve disease 10.2 PRL POMC
41 tsh producing pituitary tumor 10.2 PRL POMC
42 dysthymic disorder 10.2 POMC CRH
43 benign essential hypertension 10.2 PRL POMC
44 adrenal cortical hypofunction 10.2 POMC CRH
45 hormone producing pituitary cancer 10.2 PRL POMC
46 sexual sadism 10.2 PRL CRH
47 withdrawal disorder 10.2 POMC CRH
48 cranial nerve palsy 10.1 PRL POMC
49 pituitary apoplexy 10.1 PRL POMC
50 hashimoto thyroiditis 10.1

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

Human phenotypes related to Acth Deficiency, Isolated:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neonatal hypoglycemia 58 31 obligate (100%) Obligate (100%) HP:0001998
2 adrenocorticotropin deficient adrenal insufficiency 58 31 obligate (100%) Obligate (100%) HP:0011735
3 decreased circulating cortisol level 58 31 obligate (100%) Obligate (100%) HP:0008163
4 hypotension 58 31 hallmark (90%) Very frequent (99-80%) HP:0002615
5 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
6 hyponatremia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002902
7 adrenal hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000835
8 prolonged neonatal jaundice 58 31 frequent (33%) Frequent (79-30%) HP:0006579
9 hypoglycemic seizures 58 31 frequent (33%) Frequent (79-30%) HP:0002173
10 hepatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012115
11 jaundice 31 HP:0000952
12 hyperkalemia 58 Excluded (0%)
13 adrenocorticotropic hormone deficiency 31 HP:0011748
14 fasting hypoglycemia 31 HP:0003162
15 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

MGI Mouse Phenotypes related to Acth Deficiency, Isolated:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.03 CRH HESX1 LHX3 LHX4 NFKB2 POMC
2 growth/size/body region MP:0005378 9.85 CRH HESX1 LHX3 NFKB2 POMC POU1F1
3 homeostasis/metabolism MP:0005376 9.73 CRH LHX3 LHX4 NFKB2 POMC POU1F1
4 nervous system MP:0003631 9.4 CRH HESX1 LHX3 LHX4 POMC POU1F1
Sources

Drugs & Therapeutics for Acth Deficiency, Isolated

About this section

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

Sources

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

About this section

MalaCards organs/tissues related to Acth Deficiency, Isolated:

40
Pituitary, Lung, Thyroid, Brain, Heart, Bone, Kidney
Sources

Publications for Acth Deficiency, Isolated

About this section

Articles related to Acth Deficiency, Isolated:

(show top 50) (show all 136)
# Title Authors PMID Year
1
Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations. 6 57
22170728 2012
2
A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins. 6 57
11290323 2001
3
Isolated familial adrenocorticotropin deficiency: prenatal diagnosis by maternal plasma estriol assay. 6 57
2830787 1988
4
Linkage of congenital isolated adrenocorticotropic hormone deficiency to the corticotropin releasing hormone locus using simple sequence repeat polymorphisms. 57 61
8882784 1996
5
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. 6
30576320 2018
6
The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: protein interactions. 6
17652218 2007
7
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations. 57
15613420 2005
8
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. 6
15476446 2004
9
Isolated ACTH deficiency: enzyme defect or chimaeric enzyme? 57
8222302 1993
10
Isolated congenital ACTH deficiency: a cleavage enzyme defect? 57
8222301 1993
11
Isolated corticotropin deficiency. 57
6314808 1983
12
Isolated ACTH deficiency. Metabolic and endocrine studies in a 7-year-old boy. 57
210721 1978
13
[Selective ACTH deficiency in two siblings (author's transl)]. 57
173514 1975
14
Hypoglycemia in a two-year-old boy with adrenocorticotropic hormone (ACTH) deficiency (probably isolated) and adrenal medullary unresponsiveness to insulin-induced hypoglycemia. 57
4295129 1968
15
Hypoadrenotropism: the isolated deficiency of adrenotropic hormone. 57
14428277 1960
16
Isolated adrenocorticotropic hormone deficiency induced by nivolumab treatment for advanced gastric cancer. 61
33715100 2021
17
Hypothalamic-Pituitary Dysfunction - Part 2: Hypothalamic-Pituitary Dysfunctions Other Than Growth Hormone Deficiency in Cancer Survivors. 61
33556939 2021
18
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort. 61
33098107 2021
19
Adrenal insufficiency. 61
33484633 2021
20
Clinical Heterogeneity of Acquired Idiopathic Isolated Adrenocorticotropic Hormone Deficiency. 61
33679614 2021
21
A survey of surgically resected pituitary incidentalomas and a comparison of the clinical features and surgical outcomes of non-functioning pituitary adenomas discovered incidentally versus symptomatically. 61
33504715 2021
22
[Analysis of TBX19 gene variant in a child with congenital isolated adrenocorticotropic hormone deficiency]. 61
33423260 2021
23
Clinical impact of hypothalamic-pituitary disorders after conformal radiation therapy for pediatric low-grade glioma or ependymoma. 61
33037871 2020
24
Managing syndromic congenital ichthyosis at a tertiary care institute-Genotype-phenotype correlations, and novel treatments. 61
32533806 2020
25
Hypothalamic-Pituitary Axis Dysfunction after Whole Brain Radiotherapy - A Cohort Study. 61
32988906 2020
26
Pembrolizumab- and ipilimumab-induced diabetic ketoacidosis and isolated adrenocorticotropic hormone deficiency: a case report. 61
32988414 2020
27
Effects of anesthetics on post-operative 3-month neuroendocrine function after endoscopic transsphenoidal non-functional pituitary adenoma surgery. 61
32470184 2020
28
Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency 61
31948187 2020
29
Isolated Adrenocorticotropic Hormone Deficiency Secondary to Chronic Opiate Use. 61
32821615 2020
30
[Hypopituitarism]. 61
32541161 2020
31
Isolated Adrenocorticotropic Hormone Deficiency and Primary Hypothyroidism in a Patient Undergoing Long-Term Hemodialysis: A Case Report and Literature Review. 61
32343680 2020
32
Necessity of Utilizing Physiological Glucocorticoids for Managing Familial Mediterranean Fever. 61
32203056 2020
33
Isolated autoimmune adrenocorticotropic hormone deficiency: From a rare disease to the dominant cause of adrenal insufficiency related to check point inhibitors. 61
31838158 2020
34
Cognitive Impairment Caused by Isolated Adrenocorticotropic Hormone Deficiency without Other Hypo-adrenalism Signs - Autoimmune Encephalopathy Mimics. 61
31366802 2020
35
Puberty and Inhibin B in 35 Adolescents With Pituitary Stalk Interruption Syndrome. 61
32596193 2020
36
A Case of Isolated Adrenocorticotropic Hormone Deficiency Caused by Pembrolizumab. 61
32308578 2020
37
Sheehan Syndrome Presenting with Psychotic Manifestations Mimicking Schizophrenia in a Young Female: A Case Report and Review of the Literature. 61
33343948 2020
38
Isolated Adrenocorticotropic Hormone Deficiency Presenting with Severe Hyponatremia and Rhabdomyolysis: A Case Report and Literature Review. 61
31827062 2019
39
Comparative analysis of human leucocyte antigen between idiopathic and anti-PD-1 antibody induced isolated adrenocorticotropic hormone deficiency: A pilot study. 61
31468541 2019
40
Management of Hypopituitarism. 61
31817511 2019
41
Isolated adrenocorticotropic hormone (ACTH) deficiency and Guillain-Barré syndrome occurring in a patient treated with nivolumab. 61
31439558 2019
42
Pituitary involvement in patients with granulomatosis with polyangiitis: case series and literature review. 61
31203400 2019
43
Idiopathic and isolated adrenocorticotropic hormone deficiency presenting as continuous epigastric discomfort without symptoms of hypoglycemia: a case report. 61
31036085 2019
44
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. 61
30909965 2019
45
A case of nivolumab-induced acute-onset type 1 diabetes mellitus in melanoma. 61
30853818 2019
46
Late-onset isolated adrenocorticotropic hormone deficiency caused by nivolumab: a case report. 61
30782163 2019
47
Isolated adrenocorticotropic hormone deficiency potentially induced by nivolumab following pseudo-progression in clear cell renal cell carcinoma: A case report. 61
30680212 2019
48
A case of small-cell lung cancer with adrenocorticotropic hormone deficiency induced by nivolumab. 61
30988622 2019
49
A Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Caused by Two Novel Mutations in the TBX19 Gene. 61
31057487 2019
50
Congenital Isolated ACTH Deficiency Caused by TBX19 Gene Mutation: A Family Report. 61
31998673 2019
Sources

Variations for Acth Deficiency, Isolated

About this section

ClinVar genetic disease variations for Acth Deficiency, Isolated:

6 (show top 50) (show all 94)
# 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 K146R Variation Pathogenic 495297 GRCh37:
GRCh38:
4 TBX19 NM_005149.3(TBX19):c.156_157GA[1] (p.Arg53fs) Microsatellite Pathogenic 560672 rs763818059 GRCh37: 1:168250483-168250484
GRCh38: 1:168281245-168281246
5 TBX19 NM_005149.3(TBX19):c.265del (p.Leu89fs) Deletion Pathogenic 560673 rs1558190339 GRCh37: 1:168260457-168260457
GRCh38: 1:168291219-168291219
6 TBX19 NM_005149.3(TBX19):c.665+1del Deletion Pathogenic 560675 rs1558192351 GRCh37: 1:168267023-168267023
GRCh38: 1:168297785-168297785
7 TBX19 NM_005149.3(TBX19):c.627C>G (p.Tyr209Ter) SNV Pathogenic 561125 rs140528998 GRCh37: 1:168266985-168266985
GRCh38: 1:168297747-168297747
8 RPE65 NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter) SNV Pathogenic 587393 rs988133284 GRCh37: 1:68904907-68904907
GRCh38: 1:68439224-68439224
9 TBX19 NM_005149.3(TBX19):c.568C>T (p.Gln190Ter) SNV Pathogenic 488619 rs1553289042 GRCh37: 1:168262481-168262481
GRCh38: 1:168293243-168293243
10 TBX19 NM_005149.3(TBX19):c.856C>T (p.Arg286Ter) SNV Pathogenic 5440 rs74315376 GRCh37: 1:168274374-168274374
GRCh38: 1:168305136-168305136
11 TBX19 NM_005149.3(TBX19):c.782del (p.Asn261fs) Deletion Pathogenic 5443 rs730880274 GRCh37: 1:168274299-168274299
GRCh38: 1:168305061-168305061
12 TBX19 NM_005149.3(TBX19):c.898A>T (p.Arg300Ter) SNV Pathogenic 1031510 GRCh37: 1:168274416-168274416
GRCh38: 1:168305178-168305178
13 TBX19 NM_005149.3(TBX19):c.608C>T (p.Thr203Met) SNV Likely pathogenic 828166 rs748717639 GRCh37: 1:168266966-168266966
GRCh38: 1:168297728-168297728
14 TBX19 NM_005149.3(TBX19):c.204-3T>C SNV Conflicting interpretations of pathogenicity 293456 rs200043223 GRCh37: 1:168260395-168260395
GRCh38: 1:168291157-168291157
15 TBX19 NM_005149.3(TBX19):c.377C>T (p.Pro126Leu) SNV Uncertain significance 828147 rs753455443 GRCh37: 1:168260571-168260571
GRCh38: 1:168291333-168291333
16 TBX19 NM_005149.3(TBX19):c.1165A>G (p.Thr389Ala) SNV Uncertain significance 874971 GRCh37: 1:168282058-168282058
GRCh38: 1:168312820-168312820
17 TBX19 NM_005149.3(TBX19):c.724C>T (p.His242Tyr) SNV Uncertain significance 874037 GRCh37: 1:168269718-168269718
GRCh38: 1:168300480-168300480
18 TBX19 NM_005149.3(TBX19):c.779C>T (p.Ser260Phe) SNV Uncertain significance 874038 GRCh37: 1:168274297-168274297
GRCh38: 1:168305059-168305059
19 TBX19 NM_005149.3(TBX19):c.814G>T (p.Ala272Ser) SNV Uncertain significance 874039 GRCh37: 1:168274332-168274332
GRCh38: 1:168305094-168305094
20 TBX19 NM_005149.3(TBX19):c.840G>A (p.Glu280=) SNV Uncertain significance 874040 GRCh37: 1:168274358-168274358
GRCh38: 1:168305120-168305120
21 TBX19 NM_005149.3(TBX19):c.932G>A (p.Ser311Asn) SNV Uncertain significance 874041 GRCh37: 1:168277995-168277995
GRCh38: 1:168308757-168308757
22 TBX19 NM_005149.3(TBX19):c.*809A>G SNV Uncertain significance 874091 GRCh37: 1:168283049-168283049
GRCh38: 1:168313811-168313811
23 TBX19 NM_005149.3(TBX19):c.*954C>T SNV Uncertain significance 874092 GRCh37: 1:168283194-168283194
GRCh38: 1:168313956-168313956
24 TBX19 NM_005149.3(TBX19):c.*1026T>C SNV Uncertain significance 874093 GRCh37: 1:168283266-168283266
GRCh38: 1:168314028-168314028
25 TBX19 NM_005149.3(TBX19):c.*1204T>C SNV Uncertain significance 874094 GRCh37: 1:168283444-168283444
GRCh38: 1:168314206-168314206
26 TBX19 NM_005149.3(TBX19):c.1090G>A (p.Gly364Arg) SNV Uncertain significance 874970 GRCh37: 1:168281983-168281983
GRCh38: 1:168312745-168312745
27 TBX19 NM_005149.3(TBX19):c.*88G>A SNV Uncertain significance 875894 GRCh37: 1:168282328-168282328
GRCh38: 1:168313090-168313090
28 TBX19 NM_005149.3(TBX19):c.*258A>C SNV Uncertain significance 875895 GRCh37: 1:168282498-168282498
GRCh38: 1:168313260-168313260
29 TBX19 NM_005149.3(TBX19):c.*273A>G SNV Uncertain significance 875896 GRCh37: 1:168282513-168282513
GRCh38: 1:168313275-168313275
30 TBX19 NM_005149.3(TBX19):c.310G>A (p.Val104Ile) SNV Uncertain significance 876840 GRCh37: 1:168260504-168260504
GRCh38: 1:168291266-168291266
31 TBX19 NM_005149.3(TBX19):c.524G>T (p.Gly175Val) SNV Uncertain significance 876841 GRCh37: 1:168262437-168262437
GRCh38: 1:168293199-168293199
32 TBX19 NM_005149.3(TBX19):c.*587G>C SNV Uncertain significance 876893 GRCh37: 1:168282827-168282827
GRCh38: 1:168313589-168313589
33 TBX19 NM_005149.3(TBX19):c.*695G>A SNV Uncertain significance 876894 GRCh37: 1:168282935-168282935
GRCh38: 1:168313697-168313697
34 TBX19 NM_005149.3(TBX19):c.403T>C (p.Trp135Arg) SNV Uncertain significance 976452 GRCh37: 1:168260597-168260597
GRCh38: 1:168291359-168291359
35 RPE65 NM_000329.3(RPE65):c.110G>C (p.Trp37Ser) SNV Uncertain significance 587390 rs1557603965 GRCh37: 1:68912528-68912528
GRCh38: 1:68446845-68446845
36 RPE65 NM_000329.3(RPE65):c.722A>G (p.His241Arg) SNV Uncertain significance 587391 rs1557600322 GRCh37: 1:68905247-68905247
GRCh38: 1:68439564-68439564
37 RPE65 NM_000329.3(RPE65):c.203A>C (p.His68Pro) SNV Uncertain significance 587392 rs1557603862 GRCh37: 1:68912435-68912435
GRCh38: 1:68446752-68446752
38 TBX19 NM_005149.3(TBX19):c.916+2T>G SNV Uncertain significance 560676 rs763382655 GRCh37: 1:168274436-168274436
GRCh38: 1:168305198-168305198
39 TBX19 NM_005149.3(TBX19):c.1310C>T (p.Ala437Val) SNV Uncertain significance 560677 rs147003438 GRCh37: 1:168282203-168282203
GRCh38: 1:168312965-168312965
40 TBX19 NM_005149.3(TBX19):c.*1109dup Duplication Uncertain significance 293498 rs550552066 GRCh37: 1:168283347-168283348
GRCh38: 1:168314109-168314110
41 TBX19 NM_005149.3(TBX19):c.535C>T (p.Arg179Ter) SNV Uncertain significance 293458 rs200197424 GRCh37: 1:168262448-168262448
GRCh38: 1:168293210-168293210
42 TBX19 NM_005149.3(TBX19):c.562G>A (p.Glu188Lys) SNV Uncertain significance 560674 rs1159356681 GRCh37: 1:168262475-168262475
GRCh38: 1:168293237-168293237
43 TBX19 NM_005149.3(TBX19):c.603+7GT[18] Microsatellite Uncertain significance 293469 rs57039241 GRCh37: 1:168262523-168262528
GRCh38: 1:168293285-168293290
44 TBX19 NM_005149.3(TBX19):c.728-7A>G SNV Uncertain significance 293475 rs752195406 GRCh37: 1:168274239-168274239
GRCh38: 1:168305001-168305001
45 TBX19 NM_005149.3(TBX19):c.603+6_603+7insCTGTGT Insertion Uncertain significance 293461 rs746838916 GRCh37: 1:168262522-168262523
GRCh38: 1:168293284-168293285
46 TBX19 NM_005149.3(TBX19):c.*371C>G SNV Uncertain significance 293489 rs188457637 GRCh37: 1:168282611-168282611
GRCh38: 1:168313373-168313373
47 TBX19 NM_005149.3(TBX19):c.959C>T (p.Ser320Leu) SNV Uncertain significance 293478 rs772038103 GRCh37: 1:168278022-168278022
GRCh38: 1:168308784-168308784
48 TBX19 NM_005149.3(TBX19):c.194A>G (p.Lys65Arg) SNV Uncertain significance 293455 rs886045509 GRCh37: 1:168250522-168250522
GRCh38: 1:168281284-168281284
49 TBX19 NM_005149.3(TBX19):c.603+7GT[20] Microsatellite Uncertain significance 293467 rs57039241 GRCh37: 1:168262523-168262524
GRCh38: 1:168293285-168293286
50 TBX19 NM_005149.3(TBX19):c.603+7GT[24] Microsatellite Uncertain significance 293464 rs57039241 GRCh37: 1:168262522-168262523
GRCh38: 1:168293284-168293285

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

72
# Symbol AA change Variation ID SNP ID
1 TBX19 p.Ser128Phe VAR_018387 rs74315377

Sources

Expression for Acth Deficiency, Isolated

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Search GEO for disease gene expression data for Acth Deficiency, Isolated.
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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
11.3 TBX19 POMC CRH
2
Glucocorticoid receptor regulatory network 1
11.05 PRL POU1F1 POMC
3
Development_Leptin signaling via JAK/STAT and MAPK cascades 23
Show member pathways
 10.8 TRH POMC
4
Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics 60
10.56 PRL POMC
5
Glucocorticoid Pathway (HPA Axis), Pharmacodynamics 60
9.47 POMC CRH
Sources

GO Terms for Acth Deficiency, Isolated

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

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.17 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 9.8 TBX19 POU1F1 POMC NFKB2 LHX4 LHX3
2 regulation of transcription by RNA polymerase II GO:0006357 9.8 TBX19 PROP1 POU1F1 NFKB2 LHX4 LHX3
3 regulation of transcription, DNA-templated GO:0006355 9.7 TBX19 PROP1 POU1F1 NFKB2 LHX4 LHX3
4 motor neuron axon guidance GO:0008045 9.4 LHX4 LHX3
5 response to corticosterone GO:0051412 9.37 TRH CRH
6 medial motor column neuron differentiation GO:0021526 8.96 LHX4 LHX3
7 pituitary gland development GO:0021983 8.92 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 GO:0003677 9.91 TBX19 PROP1 POU1F1 NFKB2 LHX4 LHX3
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.8 TBX19 PROP1 POU1F1 NFKB2 LHX3 HESX1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 TBX19 PROP1 POU1F1 NFKB2 LHX4 LHX3
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.65 TBX19 POU1F1 NFKB2 LHX4 LHX3
5 hormone activity GO:0005179 9.26 TRH PRL POMC CRH
6 sequence-specific double-stranded DNA binding GO:1990837 9.1 TBX19 PROP1 POU1F1 NFKB2 LHX4 HESX1
Sources

Sources for Acth Deficiency, Isolated

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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