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PPNAD4
MCID: PGM022
MIFTS: 23
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Pigmented Nodular Adrenocortical Disease, Primary, 4 (PPNAD4)
Categories:
Bone diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Pigmented Nodular Adrenocortical Disease, Primary, 4:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
variable age at onset somatic mutations occur in adrenal tumor tissue () HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Bone diseases Endocrine diseases Reproductive diseases |
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UniProtKB/Swiss-Prot
:
74
Primary pigmented nodular adrenocortical disease 4: A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow- to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes.
MalaCards based summary : Pigmented Nodular Adrenocortical Disease, Primary, 4, is also known as chromosome 19p13 duplication syndrome, and has symptoms including cushingoid facies An important gene associated with Pigmented Nodular Adrenocortical Disease, Primary, 4 is PRKACA (Protein Kinase CAMP-Activated Catalytic Subunit Alpha). Affiliated tissues include adrenal gland, cortex and skin, and related phenotypes are emotional lability and depressivity OMIM : 57 Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by Cao et al., 2014; Sato et al., 2014). (615830) |
Diseases in the Primary Pigmented Nodular Adrenocortical Disease family:
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Human phenotypes related to Pigmented Nodular Adrenocortical Disease, Primary, 4:32 (show all 17)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615830UMLS symptoms related to Pigmented Nodular Adrenocortical Disease, Primary, 4:cushingoid facies |
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MalaCards organs/tissues related to Pigmented Nodular Adrenocortical Disease, Primary, 4:41
Adrenal Gland,
Cortex,
Skin
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Articles related to Pigmented Nodular Adrenocortical Disease, Primary, 4:
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Genes related to Pigmented Nodular Adrenocortical Disease, Primary, 4 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Pigmented Nodular Adrenocortical Disease, Primary, 4:6
UniProtKB/Swiss-Prot genetic disease variations for Pigmented Nodular Adrenocortical Disease, Primary, 4:74
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Search
GEO
for disease gene expression data for Pigmented Nodular Adrenocortical Disease, Primary, 4.
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