IAD
MCID: ACT238
MIFTS: 52

Acth Deficiency, Isolated (IAD)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Acth Deficiency, Isolated

MalaCards integrated aliases for Acth Deficiency, Isolated:

Name: Acth Deficiency, Isolated 56 52 73 39 71
Adrenocorticotropic Hormone Deficiency 56 12 73 36 29 13 6 43 15 17
Congenital Isolated Acth Deficiency 52 58
Iad 56 73
Isolated Adrenocorticotropic Hormone Deficiency 52
Adrenocorticotropic Hormone Deficiency 71
Isolated Acth Deficiency 52

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0080150
OMIM 56 201400
KEGG 36 H01011
ICD10 via Orphanet 33 E23.6
Orphanet 58 ORPHA199296
UMLS 71 C0271583 C0342388

Summaries for Acth Deficiency, Isolated

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 G alpha (s) signalling events and Corticotropin-releasing hormone signaling pathway. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include pituitary, thyroid and brain, 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 : 56 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)

UniProtKB/Swiss-Prot : 73 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.

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 207)
# Related Disease Score Top Affiliating Genes
1 lymphocytic hypophysitis 30.9 TBX19 POMC
2 fasting hypoglycemia 30.6 POMC CRH
3 hypoglycemia 30.3 PRL POMC CRH
4 graves disease 1 30.0 TRH POMC
5 thyroiditis 29.9 TSHB TRH PRL
6 pituitary tumors 29.8 PROP1 PRL POMC
7 hyperprolactinemia 29.8 TRH PRL POMC
8 hyperthyroidism 29.7 TRH PRL POMC
9 adenohypophysitis 29.7 TRH PRL POMC
10 pituitary adenoma, prolactin-secreting 29.6 TRH PRL POMC
11 amenorrhea 29.6 TRH PRL POMC CRH
12 pituitary infarct 29.5 TRH PRL POMC CRH
13 sheehan syndrome 29.4 PROP1 PRL POMC CRH
14 empty sella syndrome 29.1 TRH PROP1 PRL POMC LHX3
15 hypothyroidism, congenital, nongoitrous, 4 28.8 TSHB PROP1 PRL POMC
16 hypothalamic disease 28.4 TSHB TRH PRL POMC CRH
17 hypothyroidism 28.0 TSHB TRH PROP1 PRL POMC LHX4
18 hypopituitarism 27.7 TRH TBX19 PROP1 PRL POMC MIR3610
19 pituitary hormone deficiency, combined, 2 27.5 TSHB TRH PROP1 PRL POMC LHX4
20 pituitary gland disease 26.8 TSHB TRH TBX19 PROP1 PRL POMC
21 idiopathic ductopenia 11.3
22 dermatitis 10.6
23 atypical depressive disorder 10.3 POMC CRH
24 tuberculum sellae meningioma 10.3 PRL POMC
25 sella turcica neoplasm 10.3 PRL POMC
26 irritant dermatitis 10.3
27 contact dermatitis 10.3
28 prolactin producing pituitary tumor 10.3 PRL POMC
29 inappropriate adh syndrome 10.3 POMC CRH
30 abducens nerve disease 10.3 PRL POMC
31 acute stress disorder 10.3 POMC CRH
32 hormone producing pituitary cancer 10.3 PRL POMC
33 spinocerebellar degeneration 10.3 PRL CRH
34 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
35 pituitary hormone deficiency, combined, 1 10.2 LHX4 LHX3
36 ectopic cushing syndrome 10.2 TBX19 POMC CRH
37 cranial nerve palsy 10.2 PRL POMC
38 adrenal cortical hypofunction 10.2 POMC CRH
39 van maldergem syndrome 1 10.2 PRL POMC
40 steroid inherited metabolic disorder 10.2 PRL POMC
41 prostate cancer 10.2
42 cystic fibrosis 10.2
43 cholestasis 10.2
44 lymphadenitis 10.2
45 decubitus ulcer 10.2
46 neonatal thyrotoxicosis 10.2 PROP1 LHX3
47 common variable immunodeficiency 10.1
48 growth hormone deficiency 10.1
49 encephalopathy 10.1
50 generalized resistance to thyroid hormone 10.1 TRH PRL

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 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 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
5 hyponatremia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002902
6 hypotension 58 31 hallmark (90%) Very frequent (99-80%) HP:0002615
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:

56
Skin Nails Hair Skin:
jaundice

Metabolic Features:
fasting hypoglycemia

Endocrine Features:
acth deficiency
cortisol deficiency

Abdomen Liver:
cholestasis

Neurologic Central Nervous System:
normal development in patients who are treated and survive infancy
seizures (due to hypoglycemia, in some patients)
normal pituitary imaging

Laboratory Abnormalities:
low serum cortisol

Clinical features from OMIM:

201400

MGI Mouse Phenotypes related to Acth Deficiency, Isolated:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.96 CRH LHX3 LHX4 MTUS1 NFKB2 POMC
2 growth/size/body region MP:0005378 9.81 CRH LHX3 MTUS1 NFKB2 POMC PROP1
3 homeostasis/metabolism MP:0005376 9.65 CRH LHX3 LHX4 NFKB2 POMC PRL
4 nervous system MP:0003631 9.28 CRH LHX3 LHX4 POMC PRL PROP1

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

Genetic tests related to Acth Deficiency, Isolated:

# Genetic test Affiliating Genes
1 Adrenocorticotropic Hormone Deficiency 29 TBX19

Anatomical Context for Acth Deficiency, Isolated

MalaCards organs/tissues related to Acth Deficiency, Isolated:

40
Pituitary, Thyroid, Brain, Lung, Heart, Testes

Publications for Acth Deficiency, Isolated

Articles related to Acth Deficiency, Isolated:

(show top 50) (show all 120)
# 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 56
22170728 2012
2
A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins. 56 6
11290323 2001
3
Isolated familial adrenocorticotropin deficiency: prenatal diagnosis by maternal plasma estriol assay. 6 56
2830787 1988
4
Linkage of congenital isolated adrenocorticotropic hormone deficiency to the corticotropin releasing hormone locus using simple sequence repeat polymorphisms. 61 56
8882784 1996
5
The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: protein interactions. 6
17652218 2007
6
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations. 56
15613420 2005
7
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. 6
15476446 2004
8
Isolated congenital ACTH deficiency: a cleavage enzyme defect? 56
8222301 1993
9
Isolated ACTH deficiency: enzyme defect or chimaeric enzyme? 56
8222302 1993
10
Isolated corticotropin deficiency. 56
6314808 1983
11
Isolated ACTH deficiency. Metabolic and endocrine studies in a 7-year-old boy. 56
210721 1978
12
[Selective ACTH deficiency in two siblings (author's transl)]. 56
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. 56
4295129 1968
14
Hypoadrenotropism: the isolated deficiency of adrenotropic hormone. 56
14428277 1960
15
[Hypopituitarism]. 61
32541161 2020
16
Effects of anesthetics on post-operative 3-month neuroendocrine function after endoscopic transsphenoidal non-functional pituitary adenoma surgery. 61
32470184 2020
17
Isolated Adrenocorticotropic Hormone Deficiency and Primary Hypothyroidism in a Patient Undergoing Long-Term Hemodialysis: A Case Report and Literature Review. 61
32343680 2020
18
Necessity of Utilizing Physiological Glucocorticoids for Managing Familial Mediterranean Fever. 61
32203056 2020
19
Isolated autoimmune adrenocorticotropic hormone deficiency: From a rare disease to the dominant cause of adrenal insufficiency related to check point inhibitors. 61
31838158 2020
20
Cognitive Impairment Caused by Isolated Adrenocorticotropic Hormone Deficiency without Other Hypo-adrenalism Signs - Autoimmune Encephalopathy Mimics. 61
31366802 2020
21
A Case of Isolated Adrenocorticotropic Hormone Deficiency Caused by Pembrolizumab. 61
32308578 2020
22
Isolated Adrenocorticotropic Hormone Deficiency Presenting with Severe Hyponatremia and Rhabdomyolysis: A Case Report and Literature Review. 61
31827062 2019
23
Comparative analysis of human leucocyte antigen between idiopathic and anti-PD-1 antibody induced isolated adrenocorticotropic hormone deficiency: A pilot study. 61
31468541 2019
24
Management of Hypopituitarism. 61
31817511 2019
25
Isolated adrenocorticotropic hormone (ACTH) deficiency and Guillain-Barré syndrome occurring in a patient treated with nivolumab. 61
31439558 2019
26
Pituitary involvement in patients with granulomatosis with polyangiitis: case series and literature review. 61
31203400 2019
27
Idiopathic and isolated adrenocorticotropic hormone deficiency presenting as continuous epigastric discomfort without symptoms of hypoglycemia: a case report. 61
31036085 2019
28
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
29
A case of nivolumab-induced acute-onset type 1 diabetes mellitus in melanoma. 61
30853818 2019
30
Late-onset isolated adrenocorticotropic hormone deficiency caused by nivolumab: a case report. 61
30782163 2019
31
Isolated adrenocorticotropic hormone deficiency potentially induced by nivolumab following pseudo-progression in clear cell renal cell carcinoma: A case report. 61
30680212 2019
32
A case of small-cell lung cancer with adrenocorticotropic hormone deficiency induced by nivolumab. 61
30988622 2019
33
A Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Caused by Two Novel Mutations in the TBX19 Gene. 61
31057487 2019
34
Congenital Isolated ACTH Deficiency Caused by TBX19 Gene Mutation: A Family Report. 61
31998673 2019
35
Isolated adrenocorticotropic hormone deficiency as a form of paraneoplastic syndrome. 61
30008158 2018
36
[A Case of Nivolumab-Induced Isolated Adrenocorticotropic Hormone Deficiency Presenting Dyspnea]. 61
30543736 2018
37
Isolated Adrenocorticotropic Hormone Deficiency in Melanoma Patients Treated with Nivolumab. 61
29405244 2018
38
Isolated Adrenocorticotropic Hormone Deficiency and Severe Hypercalcemia After Destructive Thyroiditis in a Patient on Nivolumab Therapy With a Malignant Melanoma. 61
29511426 2018
39
Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2. 61
29329447 2018
40
Petrified Ear Auricles with Isolated Adrenocorticotropic Hormone Deficiency. 61
29021427 2017
41
Erratum: NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature: Erratum. 61
31305727 2017
42
Isolated Adrenocorticotropic Hormone Deficiency Caused by Nivolumab in a Patient with Metastatic Lung Cancer. 61
28824067 2017
43
Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype. 61
28778864 2017
44
Isolated adrenocorticotropic hormone deficiency associated with nivolumab therapy. 61
27608187 2017
45
Isolated adrenocorticotropic hormone deficiency possibly caused by nivolumab in a metastatic melanoma patient. 61
27440178 2017
46
Isolated Adrenocorticotropic Hormone Deficiency Following Chronic Subdural Hematoma in an Elderly Man: Is There a Connection? 61
28768968 2017
47
A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections. 61
28458651 2017
48
NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature. 61
27749582 2016
49
Circulating MicroRNAs as Potential Biomarkers for Traumatic Brain Injury-Induced Hypopituitarism. 61
27027233 2016
50
Adrenal insufficiency causes life-threatening arrhythmia with prolongation of QT interval. 61
25771803 2016

Variations for Acth Deficiency, Isolated

ClinVar genetic disease variations for Acth Deficiency, Isolated:

6 (show top 50) (show all 92) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBX19 NM_005149.3(TBX19):c.568C>T (p.Gln190Ter)SNV Pathogenic 488619 rs1553289042 1:168262481-168262481 1:168293243-168293243
2 TBX19 TBX19, LYS146ARGundetermined variant Pathogenic 495297
3 TBX19 NM_005149.3(TBX19):c.156_157GA[1] (p.Arg53fs)short repeat Pathogenic 560672 rs763818059 1:168250483-168250484 1:168281245-168281246
4 TBX19 NM_005149.3(TBX19):c.265del (p.Leu89fs)deletion Pathogenic 560673 rs1558190339 1:168260457-168260457 1:168291219-168291219
5 TBX19 NM_005149.3(TBX19):c.627C>G (p.Tyr209Ter)SNV Pathogenic 561125 rs140528998 1:168266985-168266985 1:168297747-168297747
6 RPE65 NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter)SNV Pathogenic 587393 rs988133284 1:68904907-68904907 1:68439224-68439224
7 TBX19 NM_005149.3(TBX19):c.665+1deldeletion Pathogenic 560675 rs1558192351 1:168267023-168267023 1:168297785-168297785
8 TBX19 NM_005149.3(TBX19):c.856C>T (p.Arg286Ter)SNV Pathogenic 5440 rs74315376 1:168274374-168274374 1:168305136-168305136
9 TBX19 NM_005149.3(TBX19):c.383C>T (p.Ser128Phe)SNV Pathogenic 5441 rs74315377 1:168260577-168260577 1:168291339-168291339
10 TBX19 NM_005149.3(TBX19):c.257T>G (p.Met86Arg)SNV Pathogenic 5442 rs74315378 1:168260451-168260451 1:168291213-168291213
11 TBX19 NM_005149.3(TBX19):c.782del (p.Asn261fs)deletion Pathogenic 5443 rs730880274 1:168274299-168274299 1:168305061-168305061
12 TBX19 NM_005149.3(TBX19):c.608C>T (p.Thr203Met)SNV Likely pathogenic 828166 1:168266966-168266966 1:168297728-168297728
13 TBX19 NM_005149.3(TBX19):c.603+7GT[24]short repeat Conflicting interpretations of pathogenicity 293464 rs57039241 1:168262522-168262523 1:168293284-168293285
14 TBX19 NM_005149.3(TBX19):c.204-3T>CSNV Conflicting interpretations of pathogenicity 293456 rs200043223 1:168260395-168260395 1:168291157-168291157
15 TBX19 NM_005149.3(TBX19):c.603+10_603+11insTTGTGTinsertion Conflicting interpretations of pathogenicity 293466 rs746785887 1:168262522-168262523 1:168293284-168293285
16 TBX19 NM_005149.3(TBX19):c.603+7GT[22]short repeat Uncertain significance 293462 rs57039241 1:168262522-168262523 1:168293284-168293285
17 TBX19 NM_005149.3(TBX19):c.959C>T (p.Ser320Leu)SNV Uncertain significance 293478 rs772038103 1:168278022-168278022 1:168308784-168308784
18 TBX19 NM_005149.3(TBX19):c.1147C>T (p.Leu383Phe)SNV Uncertain significance 293480 rs200775601 1:168282040-168282040 1:168312802-168312802
19 TBX19 NM_005149.3(TBX19):c.536G>A (p.Arg179Gln)SNV Uncertain significance 293459 rs139968594 1:168262449-168262449 1:168293211-168293211
20 TBX19 NM_005149.3(TBX19):c.597T>C (p.Asn199=)SNV Uncertain significance 293460 rs143377172 1:168262510-168262510 1:168293272-168293272
21 TBX19 NM_005149.3(TBX19):c.603+6_603+7insCTGTGTinsertion Uncertain significance 293461 rs746838916 1:168262522-168262523 1:168293284-168293285
22 TBX19 NM_005149.3(TBX19):c.*1235G>ASNV Uncertain significance 293502 rs112010969 1:168283475-168283475 1:168314237-168314237
23 TBX19 NM_005149.3(TBX19):c.39T>G (p.Asp13Glu)SNV Uncertain significance 293453 rs886045508 1:168250367-168250367 1:168281129-168281129
24 TBX19 NM_005149.3(TBX19):c.*30G>ASNV Uncertain significance 293483 rs778394368 1:168282270-168282270 1:168313032-168313032
25 TBX19 NM_005149.3(TBX19):c.535C>T (p.Arg179Ter)SNV Uncertain significance 293458 rs200197424 1:168262448-168262448 1:168293210-168293210
26 TBX19 NM_005149.3(TBX19):c.*371C>GSNV Uncertain significance 293489 rs188457637 1:168282611-168282611 1:168313373-168313373
27 TBX19 NM_005149.3(TBX19):c.603+7GT[19]short repeat Uncertain significance 293468 rs57039241 1:168262523-168262526 1:168293285-168293288
28 TBX19 NM_005149.3(TBX19):c.*1109dupduplication Uncertain significance 293498 rs550552066 1:168283347-168283348 1:168314109-168314110
29 TBX19 NM_005149.3(TBX19):c.*1325T>CSNV Uncertain significance 293505 rs886045520 1:168283565-168283565 1:168314327-168314327
30 TBX19 NM_005149.3(TBX19):c.315C>T (p.Asn105=)SNV Uncertain significance 293457 rs143801899 1:168260509-168260509 1:168291271-168291271
31 TBX19 NM_005149.3(TBX19):c.603+15G>TSNV Uncertain significance 293474 rs886045513 1:168262531-168262531 1:168293293-168293293
32 TBX19 NM_005149.3(TBX19):c.603+7GT[20]short repeat Uncertain significance 293467 rs57039241 1:168262523-168262524 1:168293285-168293286
33 TBX19 NM_005149.3(TBX19):c.728-7A>GSNV Uncertain significance 293475 rs752195406 1:168274239-168274239 1:168305001-168305001
34 TBX19 NM_005149.3(TBX19):c.1053-11dupduplication Uncertain significance 293479 rs138050448 1:168281934-168281935 1:168312696-168312697
35 TBX19 NM_005149.3(TBX19):c.*618_*620CTC[1]short repeat Uncertain significance 293493 rs780261050 1:168282858-168282860 1:168313620-168313622
36 TBX19 NM_005149.3(TBX19):c.*654T>GSNV Uncertain significance 293494 rs886045518 1:168282894-168282894 1:168313656-168313656
37 TBX19 NM_005149.3(TBX19):c.*746A>GSNV Uncertain significance 293495 rs553418600 1:168282986-168282986 1:168313748-168313748
38 TBX19 NM_005149.3(TBX19):c.*781A>GSNV Uncertain significance 293496 rs575063780 1:168283021-168283021 1:168313783-168313783
39 TBX19 NM_005149.3(TBX19):c.194A>G (p.Lys65Arg)SNV Uncertain significance 293455 rs886045509 1:168250522-168250522 1:168281284-168281284
40 TBX19 NM_005149.3(TBX19):c.*1230C>TSNV Uncertain significance 293500 rs775873047 1:168283470-168283470 1:168314232-168314232
41 TBX19 NM_005149.3(TBX19):c.916+2T>GSNV Uncertain significance 560676 rs763382655 1:168274436-168274436 1:168305198-168305198
42 TBX19 NM_005149.3(TBX19):c.1310C>T (p.Ala437Val)SNV Uncertain significance 560677 rs147003438 1:168282203-168282203 1:168312965-168312965
43 RPE65 NM_000329.3(RPE65):c.722A>G (p.His241Arg)SNV Uncertain significance 587391 rs1557600322 1:68905247-68905247 1:68439564-68439564
44 RPE65 NM_000329.3(RPE65):c.203A>C (p.His68Pro)SNV Uncertain significance 587392 rs1557603862 1:68912435-68912435 1:68446752-68446752
45 RPE65 NM_000329.3(RPE65):c.110G>C (p.Trp37Ser)SNV Uncertain significance 587390 rs1557603965 1:68912528-68912528 1:68446845-68446845
46 TBX19 NM_005149.3(TBX19):c.562G>A (p.Glu188Lys)SNV Uncertain significance 560674 rs1159356681 1:168262475-168262475 1:168293237-168293237
47 TBX19 NM_005149.3(TBX19):c.310G>A (p.Val104Ile)SNV Uncertain significance 876840 1:168260504-168260504 1:168291266-168291266
48 TBX19 NM_005149.3(TBX19):c.524G>T (p.Gly175Val)SNV Uncertain significance 876841 1:168262437-168262437 1:168293199-168293199
49 TBX19 NM_005149.3(TBX19):c.724C>T (p.His242Tyr)SNV Uncertain significance 874037 1:168269718-168269718 1:168300480-168300480
50 TBX19 NM_005149.3(TBX19):c.779C>T (p.Ser260Phe)SNV Uncertain significance 874038 1:168274297-168274297 1:168305059-168305059

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

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

# Super pathways Score Top Affiliating Genes
1 11.6 TSHB POMC CRH
2 11.1 TBX19 POMC CRH
3
Show member pathways
10.8 TRH POMC
4 10.46 PRL POMC
5 9.47 POMC CRH

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 nuclear chromatin GO:0000790 9.02 TBX19 PROP1 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 9.63 TBX19 PROP1 POMC NFKB2 LHX4 LHX3
2 animal organ morphogenesis GO:0009887 9.43 PROP1 LHX4 LHX3
3 motor neuron axon guidance GO:0008045 9.32 LHX4 LHX3
4 pituitary gland development GO:0021983 9.13 TBX19 PROP1 LHX3
5 medial motor column neuron differentiation GO:0021526 8.62 LHX4 LHX3

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 9.65 TBX19 PROP1 NFKB2 LHX4 LHX3
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.46 TBX19 NFKB2 LHX4 LHX3
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.35 TBX19 PROP1 NFKB2 LHX4 LHX3
4 hormone activity GO:0005179 9.02 TSHB TRH PRL POMC CRH

Sources for Acth Deficiency, Isolated

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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