MCID: PGM011
MIFTS: 25

Pigmented Nodular Adrenocortical Disease, Primary, 2

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

Aliases & Classifications for Pigmented Nodular Adrenocortical Disease, Primary, 2

MalaCards integrated aliases for Pigmented Nodular Adrenocortical Disease, Primary, 2:

Name: Pigmented Nodular Adrenocortical Disease, Primary, 2 57 29 13 6 73
Ppnad2 57 75
Adrenocortical Disease, Nodular, Pigmented, Primary, Type 2 40
Pigmented Micronodular Adrenocortical Disease, Primary, 2 57
Primary Pigmented Micronodular Adrenocortical Disease 2 75
Primary Pigmented Nodular Adrenocortical Disease 2 75
Primary Pigmented Nodular Adrenocortical Disease-2 75
Cushing Syndrome, Adrenal, Due to Ppnad2 57
Adrenal Cushing Syndrome Due to Ppnad2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood or young adulthood
manifestations of cushing syndrome may be mild
genetic heterogeneity, see ppnad1


HPO:

32
pigmented nodular adrenocortical disease, primary, 2:
Inheritance autosomal dominant inheritance
Onset and clinical course onset


Classifications:



Summaries for Pigmented Nodular Adrenocortical Disease, Primary, 2

UniProtKB/Swiss-Prot : 75 Primary pigmented nodular adrenocortical disease 2: 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, 2, also known as ppnad2, is related to primary pigmented nodular adrenocortical disease, and has symptoms including agitation An important gene associated with Pigmented Nodular Adrenocortical Disease, Primary, 2 is PDE11A (Phosphodiesterase 11A). Affiliated tissues include adrenal gland, cortex and skin, and related phenotypes are depressivity and hypertension

Description from OMIM: 610475

Related Diseases for Pigmented Nodular Adrenocortical Disease, Primary, 2

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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 primary pigmented nodular adrenocortical disease 11.4

Symptoms & Phenotypes for Pigmented Nodular Adrenocortical Disease, Primary, 2

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:

610475

Human phenotypes related to Pigmented Nodular Adrenocortical Disease, Primary, 2:

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

UMLS symptoms related to Pigmented Nodular Adrenocortical Disease, Primary, 2:


agitation

Drugs & Therapeutics for Pigmented Nodular Adrenocortical Disease, Primary, 2

Search Clinical Trials , NIH Clinical Center for Pigmented Nodular Adrenocortical Disease, Primary, 2

Genetic Tests for Pigmented Nodular Adrenocortical Disease, Primary, 2

Genetic tests related to Pigmented Nodular Adrenocortical Disease, Primary, 2:

# Genetic test Affiliating Genes
1 Pigmented Nodular Adrenocortical Disease, Primary, 2 29 PDE11A

Anatomical Context for Pigmented Nodular Adrenocortical Disease, Primary, 2

MalaCards organs/tissues related to Pigmented Nodular Adrenocortical Disease, Primary, 2:

41
Adrenal Gland, Cortex, Skin, Bone, Testes

Publications for Pigmented Nodular Adrenocortical Disease, Primary, 2

Variations for Pigmented Nodular Adrenocortical Disease, Primary, 2

ClinVar genetic disease variations for Pigmented Nodular Adrenocortical Disease, Primary, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PDE11A NM_016953.3(PDE11A): c.171delT (p.Thr58Profs) deletion Conflicting interpretations of pathogenicity rs529789124 GRCh37 Chromosome 2, 178936994: 178936994
2 PDE11A NM_016953.3(PDE11A): c.171delT (p.Thr58Profs) deletion Conflicting interpretations of pathogenicity rs529789124 GRCh38 Chromosome 2, 178072267: 178072267
3 PDE11A NM_001077196.1(PDE11A): c.936_940delGTCCT (p.Ser313Glnfs) deletion Likely pathogenic rs769235876 GRCh37 Chromosome 2, 178562133: 178562137
4 PDE11A NM_001077196.1(PDE11A): c.936_940delGTCCT (p.Ser313Glnfs) deletion Likely pathogenic rs769235876 GRCh38 Chromosome 2, 177697405: 177697409
5 PDE11A NM_001077196.1(PDE11A): c.479C> G (p.Ser160Ter) single nucleotide variant Likely pathogenic rs771254375 GRCh37 Chromosome 2, 178592878: 178592878
6 PDE11A NM_001077196.1(PDE11A): c.479C> G (p.Ser160Ter) single nucleotide variant Likely pathogenic rs771254375 GRCh38 Chromosome 2, 177728150: 177728150
7 PDE11A NM_001077197.1(PDE11A): c.235C> T (p.Arg79Ter) single nucleotide variant Likely pathogenic rs188985665 GRCh38 Chromosome 2, 178014388: 178014388
8 PDE11A NM_001077197.1(PDE11A): c.235C> T (p.Arg79Ter) single nucleotide variant Likely pathogenic rs188985665 GRCh37 Chromosome 2, 178879115: 178879115
9 PDE11A NM_001077197.1(PDE11A): c.20_21delGA (p.Arg7Thrfs) deletion Likely pathogenic rs202117698 GRCh37 Chromosome 2, 178969170: 178969171
10 PDE11A NM_001077197.1(PDE11A): c.20_21delGA (p.Arg7Thrfs) deletion Likely pathogenic rs202117698 GRCh38 Chromosome 2, 178104443: 178104444

Expression for Pigmented Nodular Adrenocortical Disease, Primary, 2

Search GEO for disease gene expression data for Pigmented Nodular Adrenocortical Disease, Primary, 2.

Pathways for Pigmented Nodular Adrenocortical Disease, Primary, 2

GO Terms for Pigmented Nodular Adrenocortical Disease, Primary, 2

Sources for Pigmented Nodular Adrenocortical Disease, Primary, 2

3 CDC
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10 dbSNP
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17 ExPASy
19 FMA
28 GO
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31 HMDB
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34 ICD10 via Orphanet
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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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