PPNAD3
MCID: PGM012
MIFTS: 16

Pigmented Nodular Adrenocortical Disease, Primary, 3 (PPNAD3)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Pigmented Nodular Adrenocortical Disease, Primary, 3

MalaCards integrated aliases for Pigmented Nodular Adrenocortical Disease, Primary, 3:

Name: Pigmented Nodular Adrenocortical Disease, Primary, 3 57 29 13 6 70
Ppnad3 57 72
Adrenocortical Disease, Nodular, Pigmented, Primary, Type 3 39
Primary Pigmented Nodular Adrenocortical Disease 3 72
Cushing Syndrome, Adrenal, Due to Ppnad3 57
Adrenal Cushing Syndrome Due to Ppnad3 72

Characteristics:

HPO:

31
pigmented nodular adrenocortical disease, primary, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614190
OMIM Phenotypic Series 57 PS610489
MeSH 44 D003480
MedGen 41 C3280094
UMLS 70 C3280094

Summaries for Pigmented Nodular Adrenocortical Disease, Primary, 3

UniProtKB/Swiss-Prot : 72 Primary pigmented nodular adrenocortical disease 3: 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, 3, is also known as ppnad3. An important gene associated with Pigmented Nodular Adrenocortical Disease, Primary, 3 is PDE8B (Phosphodiesterase 8B). Affiliated tissues include cortex, and related phenotypes are adrenal hyperplasia and increased circulating cortisol level

More information from OMIM: 614190 PS610489

Related Diseases for Pigmented Nodular Adrenocortical Disease, Primary, 3

Symptoms & Phenotypes for Pigmented Nodular Adrenocortical Disease, Primary, 3

Human phenotypes related to Pigmented Nodular Adrenocortical Disease, Primary, 3:

31
# Description HPO Frequency HPO Source Accession
1 adrenal hyperplasia 31 HP:0008221
2 increased circulating cortisol level 31 HP:0003118

Clinical features from OMIM®:

614190 (Updated 20-May-2021)

Drugs & Therapeutics for Pigmented Nodular Adrenocortical Disease, Primary, 3

Search Clinical Trials , NIH Clinical Center for Pigmented Nodular Adrenocortical Disease, Primary, 3

Genetic Tests for Pigmented Nodular Adrenocortical Disease, Primary, 3

Genetic tests related to Pigmented Nodular Adrenocortical Disease, Primary, 3:

# Genetic test Affiliating Genes
1 Pigmented Nodular Adrenocortical Disease, Primary, 3 29 PDE8B

Anatomical Context for Pigmented Nodular Adrenocortical Disease, Primary, 3

MalaCards organs/tissues related to Pigmented Nodular Adrenocortical Disease, Primary, 3:

40
Cortex

Publications for Pigmented Nodular Adrenocortical Disease, Primary, 3

Articles related to Pigmented Nodular Adrenocortical Disease, Primary, 3:

# Title Authors PMID Year
1
Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. 6 57
18272904 2008

Variations for Pigmented Nodular Adrenocortical Disease, Primary, 3

ClinVar genetic disease variations for Pigmented Nodular Adrenocortical Disease, Primary, 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDE8B NM_001029851.3(PDE8B):c.876+4525A>C SNV Pathogenic 6390 rs121918360 GRCh37: 5:76645281-76645281
GRCh38: 5:77349456-77349456

UniProtKB/Swiss-Prot genetic disease variations for Pigmented Nodular Adrenocortical Disease, Primary, 3:

72
# Symbol AA change Variation ID SNP ID
1 PDE8B p.His305Pro VAR_066503 rs121918360

Expression for Pigmented Nodular Adrenocortical Disease, Primary, 3

Search GEO for disease gene expression data for Pigmented Nodular Adrenocortical Disease, Primary, 3.

Pathways for Pigmented Nodular Adrenocortical Disease, Primary, 3

GO Terms for Pigmented Nodular Adrenocortical Disease, Primary, 3

Sources for Pigmented Nodular Adrenocortical Disease, Primary, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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