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Ontology Browser

Term:
corticosteroid-binding globulin deficiency (DOID:0090030)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Fatigue +     
monogenic disease +     
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs  
adrenal cortex disease +   
adrenal gland hyperfunction +   
Adrenal Gland Neoplasms +   
Adrenal Insufficiency +   
Alport syndrome +   
amyotrophic lateral sclerosis +   
autosomal genetic disease +   
Bartter disease +   
basal laminar drusen  
Brugada syndrome +   
Camurati-Engelmann disease +   
cardiofaciocutaneous syndrome +   
cataract +   
catecholaminergic polymorphic ventricular tachycardia +   
Cayman type cerebellar ataxia  
chondrodysplasia punctata +   
ciliopathy +   
cone-rod dystrophy +   
congenital adrenal hyperplasia +   
Cornelia de Lange syndrome +   
corticosteroid-binding globulin deficiency  
An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. (DO)
dilated cardiomyopathy 1BB  
dilated cardiomyopathy 1EE  
dilated cardiomyopathy 1FF  
dilated cardiomyopathy 1G  
dilated cardiomyopathy 1GG  
dilated cardiomyopathy 1H  
dilated cardiomyopathy 1I  
dilated cardiomyopathy 1J  
dilated cardiomyopathy 1K 
dilated cardiomyopathy 1L  
dilated cardiomyopathy 1M  
dilated cardiomyopathy 1O  
dilated cardiomyopathy 1P  
dilated cardiomyopathy 1Q 
dilated cardiomyopathy 1T  
dilated cardiomyopathy 1W  
dilated cardiomyopathy 1Z  
Ectodermal Dysplasia Adrenal Cyst 
erythrokeratodermia variabilis +   
familial hemophagocytic lymphohistiocytosis 5  
familial nephrotic syndrome +   
Fanconi anemia complementation group F  
Fanconi anemia complementation group G  
Fanconi anemia complementation group J  
Fanconi anemia complementation group N  
hypochondrogenesis  
infantile histiocytoid cardiomyopathy  
inflammatory bowel disease 1  
inflammatory bowel disease 10  
inflammatory bowel disease 11 
inflammatory bowel disease 12  
inflammatory bowel disease 13  
inflammatory bowel disease 14  
inflammatory bowel disease 15 
inflammatory bowel disease 16  
inflammatory bowel disease 17  
inflammatory bowel disease 18 
inflammatory bowel disease 19  
inflammatory bowel disease 2 
inflammatory bowel disease 20 
inflammatory bowel disease 22 
inflammatory bowel disease 23 
inflammatory bowel disease 24 
inflammatory bowel disease 26 
inflammatory bowel disease 27 
inflammatory bowel disease 4 
inflammatory bowel disease 5  
inflammatory bowel disease 6 
inflammatory bowel disease 7 
inflammatory bowel disease 8 
inflammatory bowel disease 9 
isolated microphthalmia 4  
lambda 5 deficiency 
Leber congenital amaurosis 10  
Leber congenital amaurosis 3  
Leber congenital amaurosis 7  
medulloadrenal hyperfunction 
Mental Fatigue +  
multiple epiphyseal dysplasia due to collagen 9 anomaly +   
multiple pterygium syndrome +   
Noonan syndrome +   
Opitz-GBBB syndrome +   
osteogenesis imperfecta type 14  
osteogenesis imperfecta type 6  
posterior polymorphous corneal dystrophy 3  
postural orthostatic tachycardia syndrome  
primary congenital glaucoma +   
Ritscher-Schinzel syndrome +   
schizophrenia 13 
schizophrenia 14 
schizophrenia 16  
schizophrenia 18  
schizophrenia 9  
Waterhouse-Friderichsen syndrome +  
X-linked monogenic disease +   
Y-linked monogenic disease +   

Synonyms
Exact Synonyms: CBG deficiency ;   Transcortin Deficiency
Narrow Synonyms: TRANSCORTIN DEFICIENCY CORTICOSTEROID-BINDING GLOBULIN, ELEVATED
Primary IDs: MESH:C565152 ;   RDO:0013876
Alternate IDs: OMIM:611489
Xrefs: GARD:13101 ;   ORDO:199247
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/10634411, https://www.ncbi.nlm.nih.gov/pubmed/7061486

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.