{"Name":"Corticosterone 18-monooxygenase deficiency","DiseaseID__c":"GARD:0005660","id":5660,"encodedName":"corticosterone-18-monooxygenase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Corticosterone 18-monooxygenase deficiency","Xref_IDs__c":"47757001; C0268293; DOID:0080626; MEDGEN:82784; MONDO:0008751; OMIM:203400","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MEDGEN:CN074214","Disease_Description__c":"CMO type I deficiency is an autosomal recessive disorder caused by a defect in the penultimate biochemical step of aldosterone biosynthesis, the 18-hydroxylation of corticosterone (B) to 18-hydroxycorticosterone (18-OHB). This enzymatic defect results in decreased aldosterone and salt-wasting. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal. These patients have an increased ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998).The CYP11B2 gene product also catalyzes the final step in aldosterone biosynthesis: the 18-oxidation of 18-OHB to aldosterone. A   defect in that enzymatic step results in CMO type II deficiency (610600), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998).","GARD_Name__c":"Corticosterone 18-monooxygenase deficiency","GARD_Synonym__c":"18 alpha hydroxylase deficiency; 18 hydroxylase deficiency; 18-hydroxycorticosterone dehydrogenase deficiency; 18-hydroxylase deficiency; aldosterone deficiency 1; aldosterone deficiency due to 18-hydroxylase defect; aldosterone deficiency due to 18-hydroxysteroid dehydrogenase deficiency; aldosterone deficiency due to defect in 18 hydroxylase; aldosterone deficiency due to defect in steroid 18-hydroxylase; aldosterone deficiency i; cah - 18-hydroxylase deficiency; cmo 1 deficiency; cmo i deficiency; corticosterone methyl oxidase type i deficiency; corticosterone methyloxidase type 1 deficiency; hypoaldosteronism, congenital, due to cmo i deficiency; steroid 18-hydroxylase deficiency","Curated_Disease_Description_Source__c":"MEDGEN:CN074214","Curated_Disease_Description__c":"Corticosterone methyloxidase deficiency, also known as aldosterone synthase deficiency, is a disorder characterized by excessive amounts of sodium released in the urine (salt wasting), along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. This imbalance leads to low levels of sodium and high levels of potassium in the blood (hyponatremia and hyperkalemia, respectively). Individuals with corticosterone methyloxidase deficiency can also have high levels of acid in the blood (metabolic acidosis). The hyponatremia, hyperkalemia, and metabolic acidosis associated with corticosterone methyloxidase deficiency can cause nausea, vomiting, dehydration, low blood pressure, extreme tiredness (fatigue), and muscle weakness. Affected infants often experience failure to thrive, which means they do not gain weight and grow at the expected rate. Severe cases of corticosterone methyloxidase deficiency can result in seizures and coma and can be life-threatening. However, affected individuals who survive infancy generally have a normal life expectancy, and the signs and symptoms of the disorder typically become milder or disappear by adulthood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008751","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Corticosterone methyloxidase deficiency, also known as aldosterone synthase deficiency, is a disorder characterized by excessive amounts of sodium released in the urine (salt wasting), along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. This imbalance leads to low levels of sodium and high levels of potassium in the blood (hyponatremia and hyperkalemia, respectively). Individuals with corticosterone methyloxidase deficiency can also have high levels of acid in the blood (metabolic acidosis). The hyponatremia, hyperkalemia, and metabolic acidosis associated with corticosterone methyloxidase deficiency can cause nausea, vomiting, dehydration, low blood pressure, extreme tiredness (fatigue), and muscle weakness. Affected infants often experience failure to thrive, which means they do not gain weight and grow at the expected rate. Severe cases of corticosterone methyloxidase deficiency can result in seizures and coma and can be life-threatening. However, affected individuals who survive infancy generally have a normal life expectancy, and the signs and symptoms of the disorder typically become milder or disappear by adulthood.","Curated_Disease_Description_Source__c":"MEDGEN:CN074214","GARD_Synonym__c":"18 alpha hydroxylase deficiency; 18 hydroxylase deficiency; 18-hydroxycorticosterone dehydrogenase deficiency; 18-hydroxylase deficiency; aldosterone deficiency 1; aldosterone deficiency due to 18-hydroxylase defect; aldosterone deficiency due to 18-hydroxysteroid dehydrogenase deficiency; aldosterone deficiency due to defect in 18 hydroxylase; aldosterone deficiency due to defect in steroid 18-hydroxylase; aldosterone deficiency i; cah - 18-hydroxylase deficiency; cmo 1 deficiency; cmo i deficiency; corticosterone methyl oxidase type i deficiency; corticosterone methyloxidase type 1 deficiency; hypoaldosteronism, congenital, due to cmo i deficiency; steroid 18-hydroxylase deficiency","Name":"Corticosterone 18-monooxygenase deficiency","estimateUsa":""}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:CN074214"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080626","Source__c":"MONDO:0008751","Xref__c":"DOID:0080626"},{"URL__c":"https://www.omim.org/entry/203400","Source__c":"C0268293; MONDO:0008751","Xref__c":"OMIM:203400"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268293","Source__c":"C0268293","Xref__c":"C0268293"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=47757001","Source__c":"C0268293; MONDO:0008751","Xref__c":"47757001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82784","Source__c":"C0268293","Xref__c":"MEDGEN:82784"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008751","Source__c":"GARD:0005660","Xref__c":"MONDO:0008751"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CYP11B2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cyp11b2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:203400","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:203400","Feature__r":{"HPO_Description__c":"Low Blood Pressure, vascular hypotension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002615","HPO_Synonym__c":"Arterial hypotension; Low blood pressure","HPO_Name__c":"Hypotension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:203400","Feature__r":{"HPO_Description__c":"An increased level of renin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000848","HPO_Synonym__c":"Elevated blood renin level; Elevated plasma renin; Hyperreninemia; Increased circulating renin level; Increased plasma renin; Increased serum renin","HPO_Name__c":"Increased circulating renin concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:203400","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:203400","Feature__r":{"HPO_Description__c":"Abnormally reduced levels of aldosterone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004319","HPO_Synonym__c":"Decreased aldosterone; Decreased aldosterone production; Decreased serum aldosterone; Hypoaldosteronism; Low blood aldosterone level; Mineralocorticoid insufficiency","HPO_Name__c":"Decreased circulating aldosterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:203400","Feature__r":{"HPO_Description__c":"Periodic (episodic or recurrent) bouts of fever.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001954","HPO_Synonym__c":"Episodic fever; Hyperthermia, episodic; Increased body temperature, episodic; Intermittent fever","HPO_Name__c":"Recurrent fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:203400","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:203400","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001944","HPO_Synonym__c":"Dehydration; Exsiccosis","HPO_Name__c":"Dehydration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:203400","Feature__r":{"HPO_Description__c":"An abnormally increased potassium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002153","HPO_Synonym__c":"Increased circulating potassium concentration","HPO_Name__c":"Hyperkalemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:203400","Feature__r":{"HPO_Description__c":"A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000127","HPO_Synonym__c":"Loss of salt in urine; Renal salt-wasting; Salt wasting; Salt-wasting","HPO_Name__c":"Renal salt wasting","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:203400","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:203400","Feature__r":{"HPO_Description__c":"An abnormally decreased sodium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002902","HPO_Synonym__c":"Low blood sodium levels","HPO_Name__c":"Hyponatremia","HPO_Feature_Type__c":"Lab"}}],"tags":{},"synonyms":["18 alpha hydroxylase deficiency"," 18 hydroxylase deficiency"," 18-hydroxycorticosterone dehydrogenase deficiency"," 18-hydroxylase deficiency"," aldosterone deficiency 1"," aldosterone deficiency due to 18-hydroxylase defect"," aldosterone deficiency due to 18-hydroxysteroid dehydrogenase deficiency"," aldosterone deficiency due to defect in 18 hydroxylase"," aldosterone deficiency due to defect in steroid 18-hydroxylase"," aldosterone deficiency i"," cah - 18-hydroxylase deficiency"," cmo 1 deficiency"," cmo i deficiency"," corticosterone methyl oxidase type i deficiency"," corticosterone methyloxidase type 1 deficiency"," hypoaldosteronism, congenital, due to cmo i deficiency"," steroid 18-hydroxylase deficiency"]}