MCID: PGM021
MIFTS: 26

Pigmented Nodular Adrenocortical Disease, Primary, 1

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

Aliases & Classifications for Pigmented Nodular Adrenocortical Disease, Primary, 1

MalaCards integrated aliases for Pigmented Nodular Adrenocortical Disease, Primary, 1:

Name: Pigmented Nodular Adrenocortical Disease, Primary, 1 57 29 13 6 73
Ppnad1 57 75
Adrenocortical Disease, Nodular, Pigmented, Primary, Type 1 40
Pigmented Micronodular Adrenocortical Disease, Primary, 1 57
Primary Pigmented Micronodular Adrenocortical Disease 1 75
Primary Pigmented Nodular Adrenocortical Disease 1 75
Primary Pigmented Nodular Adrenocortical Disease-1 75
Adrenocortical Nodular Dysplasia, Primary 57
Cushing Syndrome, Adrenal, Due to Ppnad1 57
Adrenal Cushing Syndrome Due to Ppnad1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood or young adulthood
manifestations of cushing syndrome may be mild
genetic heterogeneity, see ppnad2
usually a manifestation of the carney complex (cnc1, )


HPO:

32
pigmented nodular adrenocortical disease, primary, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course onset


Classifications:



Summaries for Pigmented Nodular Adrenocortical Disease, Primary, 1

UniProtKB/Swiss-Prot : 75 Primary pigmented nodular adrenocortical disease 1: 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. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. PPNAD1 is most often diagnosed in patients with Carney complex, a multiple neoplasia syndrome. However it can also be observed in patients without other manifestations.

MalaCards based summary : Pigmented Nodular Adrenocortical Disease, Primary, 1, also known as ppnad1, is related to primary pigmented nodular adrenocortical disease, and has symptoms including agitation An important gene associated with Pigmented Nodular Adrenocortical Disease, Primary, 1 is PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha). Affiliated tissues include cortex, testes and skin, and related phenotypes are round face and psychosis

OMIM : 57 Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1; 160980), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002). (610489)

Related Diseases for Pigmented Nodular Adrenocortical Disease, Primary, 1

Diseases in the Primary Pigmented Nodular Adrenocortical Disease family:

Pigmented Nodular Adrenocortical Disease, Primary, 2 Pigmented Nodular Adrenocortical Disease, Primary, 1
Pigmented Nodular Adrenocortical Disease, Primary, 3 Pigmented Nodular Adrenocortical Disease, Primary, 4

Diseases related to Pigmented Nodular Adrenocortical Disease, Primary, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 primary pigmented nodular adrenocortical disease 11.3

Symptoms & Phenotypes for Pigmented Nodular Adrenocortical Disease, Primary, 1

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension

Skeletal:
osteoporosis
decreased bone mineral density

Neurologic Behavioral Psychiatric Manifestations:
anxiety
psychosis
agitation
mood changes
depression

Growth Weight:
truncal obesity

Laboratory Abnormalities:
paradoxical increased cortisol secretion on dexamethasone suppression test
increased serum cortisol
decreased serum acth

Skeletal Spine:
kyphosis

Skin Nails Hair Skin:
thin skin
easy bruising
striae

Head And Neck Face:
round face

Endocrine Features:
pigmented micronodular adrenocortical disease
cushing syndrome
acth-independent hypercortisolemia
adrenal glands may be normal, atrophic, or slightly enlarged

Neurologic Central Nervous System:
cognitive decline


Clinical features from OMIM:

610489

Human phenotypes related to Pigmented Nodular Adrenocortical Disease, Primary, 1:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 round face 32 HP:0000311
2 psychosis 32 HP:0000709
3 agitation 32 HP:0000713
4 depressivity 32 HP:0000716
5 anxiety 32 HP:0000739
6 hypertension 32 HP:0000822
7 osteopenia 32 HP:0000938
8 osteoporosis 32 HP:0000939
9 thin skin 32 HP:0000963
10 bruising susceptibility 32 HP:0000978
11 striae distensae 32 HP:0001065
12 mental deterioration 32 HP:0001268
13 mood changes 32 HP:0001575
14 primary hypercorticolism 32 HP:0001579
15 pigmented micronodular adrenocortical disease 32 HP:0001580
16 truncal obesity 32 HP:0001956
17 kyphosis 32 HP:0002808
18 decreased circulating acth level 32 HP:0002920
19 paradoxical increased cortisol secretion on dexamethasone suppression test 32 HP:0003466

UMLS symptoms related to Pigmented Nodular Adrenocortical Disease, Primary, 1:


agitation

Drugs & Therapeutics for Pigmented Nodular Adrenocortical Disease, Primary, 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC) Completed NCT00668291

Search NIH Clinical Center for Pigmented Nodular Adrenocortical Disease, Primary, 1

Genetic Tests for Pigmented Nodular Adrenocortical Disease, Primary, 1

Genetic tests related to Pigmented Nodular Adrenocortical Disease, Primary, 1:

# Genetic test Affiliating Genes
1 Pigmented Nodular Adrenocortical Disease, Primary, 1 29 PRKAR1A

Anatomical Context for Pigmented Nodular Adrenocortical Disease, Primary, 1

MalaCards organs/tissues related to Pigmented Nodular Adrenocortical Disease, Primary, 1:

41
Cortex, Testes, Skin, Adrenal Gland, Bone

Publications for Pigmented Nodular Adrenocortical Disease, Primary, 1

Variations for Pigmented Nodular Adrenocortical Disease, Primary, 1

ClinVar genetic disease variations for Pigmented Nodular Adrenocortical Disease, Primary, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKAR1A NM_002734.4(PRKAR1A): c.-7+1G> A single nucleotide variant Pathogenic rs587776773 GRCh37 Chromosome 17, 66508690: 66508690
2 PRKAR1A NM_002734.4(PRKAR1A): c.-7+1G> A single nucleotide variant Pathogenic rs587776773 GRCh38 Chromosome 17, 68512549: 68512549
3 PRKAR1A PRKAR1A, 16-BP DEL deletion Pathogenic
4 PRKAR1A NM_212472.2(PRKAR1A): c.709-7_709-2delTTTTTA deletion Pathogenic rs281864801 GRCh37 Chromosome 17, 66523974: 66523979
5 PRKAR1A NM_212472.2(PRKAR1A): c.709-7_709-2delTTTTTA deletion Pathogenic rs281864801 GRCh38 Chromosome 17, 68527833: 68527838

Expression for Pigmented Nodular Adrenocortical Disease, Primary, 1

Search GEO for disease gene expression data for Pigmented Nodular Adrenocortical Disease, Primary, 1.

Pathways for Pigmented Nodular Adrenocortical Disease, Primary, 1

GO Terms for Pigmented Nodular Adrenocortical Disease, Primary, 1

Sources for Pigmented Nodular Adrenocortical Disease, Primary, 1

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74 UMLS via Orphanet
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