PPNAD3
MCID: PGM012
MIFTS: 17

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 58 30 13 6 74
Ppnad3 58 76
Adrenocortical Disease, Nodular, Pigmented, Primary, Type 3 41
Primary Pigmented Nodular Adrenocortical Disease 3 76
Cushing Syndrome, Adrenal, Due to Ppnad3 58
Adrenal Cushing Syndrome Due to Ppnad3 76

Characteristics:

HPO:

33
pigmented nodular adrenocortical disease, primary, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614190
MeSH 45 D003480
MedGen 43 C3280094
UMLS 74 C3280094

Summaries for Pigmented Nodular Adrenocortical Disease, Primary, 3

UniProtKB/Swiss-Prot : 76 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, adrenal gland and bone, and related phenotypes are increased circulating cortisol level and adrenal hyperplasia

Description from OMIM: 614190

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:

33
# Description HPO Frequency HPO Source Accession
1 increased circulating cortisol level 33 HP:0003118
2 adrenal hyperplasia 33 HP:0008221

Clinical features from OMIM:

614190

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 30 PDE8B

Anatomical Context for Pigmented Nodular Adrenocortical Disease, Primary, 3

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

42
Cortex, Adrenal Gland, Bone

Publications for Pigmented Nodular Adrenocortical Disease, Primary, 3

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

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

Variations for Pigmented Nodular Adrenocortical Disease, Primary, 3

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

76
# Symbol AA change Variation ID SNP ID
1 PDE8B p.His305Pro VAR_066503 rs121918360

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PDE8B NM_003719.3(PDE8B): c.914A> C (p.His305Pro) single nucleotide variant Pathogenic rs121918360 GRCh37 Chromosome 5, 76645281: 76645281
2 PDE8B NM_003719.3(PDE8B): c.914A> C (p.His305Pro) single nucleotide variant Pathogenic rs121918360 GRCh38 Chromosome 5, 77349456: 77349456

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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