Hypoadrenocorticism, familial

Preferred Label : Hypoadrenocorticism, familial;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Adrenal aplasia; Adrenal hypoplasia; Addison disease;

Description : Addison disease falls into the same category as pernicious anemia, systemic lupus erythematosus, myasthenia gravis, and Hashimoto thyroiditis, in which an autoimmune basis is suggested by some evidence and in which familial aggregation occurs. In all these conditions, the role of a single genetic locus in etiology is unclear. The isolated form of Addison disease is less frequent than that combined with other endocrinopathies, particularly hypoparathyroidism (see 240300). A noteworthy feature is the lack of hypoaldosteronism (Stempfel and Engel, 1960; Shepard et al., 1959). Androgen metabolism could not be tested. These cases may well have a defect limited to corticoid metabolism. Some of these cases may with more validity be classed as adrenal unresponsiveness to ACTH (202200). Berlin (1952) reported Addison disease in brother and sister, the latter having also pernicious anemia. Brochner-Mortensen (1956) described Addison disease in 2 brothers and 2 of their maternal uncles. Meakin et al. (1959) described 2 brothers with onset of adrenal insufficiency at age 3 to 4 years. Williams and Freeman (1965) reported adrenal cortical hypofunction without salt loss in 3 of 4 children of second-cousin parents. O'Donohoe and Holland (1968) described autopsy-proven adrenal hypoplasia in a sister of 2 affected males. Lemli and Smith (1968) reported affected sisters. The histologic findings differ in the X-linked (300200) and autosomal recessive forms of adrenal hypoplasia. In the former, the adrenal cortex shows disorganization with poor differentiation of cortical zones and presence of scattered clumps of eosinophilic cells. This is sometimes referred to as the cytomegalic type because of the large cells present as the only remaining cortical tissue. In the latter, there is absence or near-absence of both fetal and permanent cortex. This is sometimes called the 'miniature adult' type because the small adrenal cortex consists almost exclusively of permanent cortex. The latter type occurs either sporadically or as an autosomal recessive condition and may occur alone or, as is often the case, accompanied by anomalies of the brain and pituitary gland, as in anencephaly, or with pituitary gland abnormalities alone. Boyd and MacDonald (1960) reported marked hyperplasia of pituitary basophilic cells. Congenital hypoadrenocorticism may be misdiagnosed as 'sudden infant death syndrome.' In the majority of cases, Addison disease is a component of an autoimmune polyendocrine syndrome, or APS (Gambelunghe et al., 1999). APS1 (240300), a rare disorder, is caused by mutation in the AIRE gene (607358), which resides on chromosome 21. APS2 (269200), more frequently found in adult patients, is a complex multigenic disease. The major histocompatibility complex class I chain-related MICA (600169) and MICB (602436) genes are located on chromosome 6 between the HLA-B (142830) and the B-associated transcript (see 142560) genes. The presence of 21-hydroxylase autoantibodies is a sensitive and specific marker of autoimmune Addison disease. Gambelunghe et al. (1999) evaluated the association of APS2-Addison disease with both MICA and MICB gene polymorphism 28 autoimmune (21-hydroxylase autoantibody-positive) Addison disease patients and in 75 healthy subjects from central Italy. They found evidence for a primary association of autoimmune Addison disease with the exon 5 microsatellite polymorphism of the MICA gene (MICA5.1). The MICA5.1 allele was significantly more frequent in Addison disease patients (79%) than in healthy subjects (36%) whereas MICA6 was significantly reduced in affected subjects. The A5.1/A5.1 genotype had an odds ratio for autoimmune Addison disease as high as 18.0 and an absolute risk of 1 per 1,131. In the presence of MICA5.1, MICB/CA-25 was significantly increased in Addison disease patients (15% vs 56%). The;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Hypoglycemia; Hyponatremia; Hyperkalemia;

Prefixed ID : %240200;

Details

Origin ID

240200;

UMLS CUI

C1868690;

Automatic exact mappings (from CISMeF team)
- Adrenal hypoplasia [HPO term]
- Aplasia of adrenal gland (disorder) [SNOMED CT concept]
- Congenital absence of adrenal gland (disorder) [SNOMED CT concept]
- Congenital adrenal hypoplasia [ICD-11 Category]
- Familial adrenal hypoplasia [ICD-11 More detail]
Currated CISMeF NLP mapping
- ADDISON'S DISEASE [WHO-ART Included Term]
- Acquired adrenocortical insufficiency [ICD-11 Subcategory]
- Addison disease [PASCAL descriptor]
- Addison disease [HPO term]
- Addison disease [ORDO Disease]
- Addison's Disease [NCIt concept]
- Addison's disease [DO Concept]
- Addison's disease [MedDRA Preferred Term]
- Addison's disease (disorder) [SNOMED CT concept]
- Disease Addison's [MedDRA LLT]
- Hypoadrenocorticism, Familial [MeSH Descriptor]
- Primary adrenal insufficiency [HPO term]
- Primary adrenal insufficiency [MedDRA Preferred Term]
- Primary adrenocortical insufficiency [ICD-10 Sub-category]
- addison disease [MedlinePlus Topic]
- addison disease [MeSH Descriptor]
- addison disease [MeSH concept]
- addison's disease, nos [SNOMED Notion]
DO Cross reference
- Addison's disease [DO Concept]
HPO term(s)
- Abnormality of skin pigmentation [HPO term]
- Abnormality of the cardiovascular system [HPO term]
- Adrenal hypoplasia [HPO term]
- Adrenal insufficiency [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cyanosis [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Hyperkalemia [HPO term]
- Hypoglycemia [HPO term]
- Hyponatremia [HPO term]
- Seizure [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Addison disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypoadrenocorticism, Familial [MeSH Descriptor]

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