PPNAD1
MCID: PGM021
MIFTS: 29

Pigmented Nodular Adrenocortical Disease, Primary, 1 (PPNAD1)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Metabolic 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 70
Ppnad1 57 72
Adrenocortical Disease, Nodular, Pigmented, Primary, Type 1 39
Pigmented Micronodular Adrenocortical Disease, Primary, 1 57
Primary Pigmented Micronodular Adrenocortical Disease 1 72
Primary Pigmented Nodular Adrenocortical Disease 1 72
Primary Pigmented Nodular Adrenocortical Disease-1 72
Adrenocortical Nodular Dysplasia, Primary 57
Cushing Syndrome, Adrenal, Due to Ppnad1 57
Adrenal Cushing Syndrome Due to Ppnad1 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
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 : 72 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 myxoma, intracardiac, 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 and bone, and related phenotypes are depressivity and kyphosis

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) (Updated 05-Apr-2021)

Related Diseases for Pigmented Nodular Adrenocortical Disease, Primary, 1

Graphical network of the top 20 diseases related to Pigmented Nodular Adrenocortical Disease, Primary, 1:



Diseases related to Pigmented Nodular Adrenocortical Disease, Primary, 1

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

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

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 depressivity 31 HP:0000716
2 kyphosis 31 HP:0002808
3 hypertension 31 HP:0000822
4 osteopenia 31 HP:0000938
5 osteoporosis 31 HP:0000939
6 anxiety 31 HP:0000739
7 striae distensae 31 HP:0001065
8 mental deterioration 31 HP:0001268
9 bruising susceptibility 31 HP:0000978
10 psychosis 31 HP:0000709
11 round face 31 HP:0000311
12 truncal obesity 31 HP:0001956
13 thin skin 31 HP:0000963
14 agitation 31 HP:0000713
15 decreased circulating acth level 31 HP:0002920
16 pigmented micronodular adrenocortical disease 31 HP:0001580
17 mood changes 31 HP:0001575
18 paradoxical increased cortisol secretion on dexamethasone suppression test 31 HP:0003466
19 primary hypercortisolism 31 HP:0001579

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
kyphosis

Skeletal:
osteoporosis
decreased bone mineral density

Head And Neck Face:
round face

Skin Nails Hair Skin:
thin skin
easy bruising
striae

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

Cardiovascular Vascular:
hypertension

Neurologic Behavioral Psychiatric Manifestations:
anxiety
psychosis
agitation
mood changes
depression

Growth Weight:
truncal obesity

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 (Updated 05-Apr-2021)

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


agitation

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

Search Clinical Trials , 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:

40
Cortex, Bone

Publications for Pigmented Nodular Adrenocortical Disease, Primary, 1

Articles related to Pigmented Nodular Adrenocortical Disease, Primary, 1:

# Title Authors PMID Year
1
Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. 57 6
12213893 2002
2
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. 6
16464939 2006
3
Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. 57
10523219 1999
4
Familial Cushing's syndrome due to nodular adrenocortical dysplasia is an inherited disease of immunological origin. 57
2605794 1989
5
Familial Cushing's syndrome. Micronodular adrenocortical dysplasia. 57
3365080 1988
6
Immunoglobulins of patients with Cushing's syndrome due to pigmented adrenocortical micronodular dysplasia stimulate in vitro steroidogenesis. 57
2828408 1988
7
Bilateral primary pigmented nodular adrenocortical disease. Rare cause of the Cushing syndrome. 57
6329005 1984
8
Familial congenital Cushing's syndrome due to bilateral nodular adrenal hyperplasia. 57
7307279 1981
9
Familial Cushing's syndrome. 57
579530 1978

Variations for Pigmented Nodular Adrenocortical Disease, Primary, 1

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRKAR1A NM_212472.2(PRKAR1A):c.-37G>A SNV Pathogenic 12670 rs587776773 GRCh37: 17:66508690-66508690
GRCh38: 17:68512549-68512549
2 PRKAR1A PRKAR1A, 16-BP DEL Deletion Pathogenic 12671 GRCh37:
GRCh38:
3 PRKAR1A NM_212472.2(PRKAR1A):c.709-7_709-2del Microsatellite Pathogenic 12675 rs281864801 GRCh37: 17:66523965-66523970
GRCh38: 17:68527824-68527829
4 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.1003C>T (p.Arg335Cys) SNV Likely pathogenic 433148 rs1555815121 GRCh37: 17:66526447-66526447
GRCh38: 17:68530306-68530306

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

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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