MCID: PGM012
MIFTS: 17

Pigmented Nodular Adrenocortical Disease, Primary, 3

Categories: Genetic diseases, Endocrine 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 73
Ppnad3 57 75
Adrenocortical Disease, Nodular, Pigmented, Primary, Type 3 40
Primary Pigmented Nodular Adrenocortical Disease 3 75
Cushing Syndrome, Adrenal, Due to Ppnad3 57
Adrenal Cushing Syndrome Due to Ppnad3 75

Characteristics:

HPO:

32
pigmented nodular adrenocortical disease, primary, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614190
MedGen 42 C3280094
MeSH 44 D003480
UMLS 73 C3280094

Summaries for Pigmented Nodular Adrenocortical Disease, Primary, 3

UniProtKB/Swiss-Prot : 75 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 adrenal gland and cortex, 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

Clinical features from OMIM:

614190

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

32
# Description HPO Frequency HPO Source Accession
1 increased circulating cortisol level 32 HP:0003118
2 adrenal hyperplasia 32 HP:0008221

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:

41
Adrenal Gland, Cortex

Publications for Pigmented Nodular Adrenocortical Disease, Primary, 3

Variations for Pigmented Nodular Adrenocortical Disease, Primary, 3

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

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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