PPNAD2
MCID: PGM011
MIFTS: 25

Pigmented Nodular Adrenocortical Disease, Primary, 2 (PPNAD2)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Metabolic 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 71
Ppnad2 57 73
Adrenocortical Disease, Nodular, Pigmented, Primary, Type 2 39
Pigmented Micronodular Adrenocortical Disease, Primary, 2 57
Primary Pigmented Micronodular Adrenocortical Disease 2 73
Primary Pigmented Nodular Adrenocortical Disease 2 73
Primary Pigmented Nodular Adrenocortical Disease-2 73
Cushing Syndrome, Adrenal, Due to Ppnad2 57
Adrenal Cushing Syndrome Due to Ppnad2 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
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 : 73 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 cortex and bone, and related phenotypes are depressivity and kyphosis

More information from OMIM: 610475 PS610489

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 31.4 PDE11A-AS1 PDE11A

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

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

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-Mar-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®:

610475 (Updated 05-Mar-2021)

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:

40
Cortex, Bone

Publications for Pigmented Nodular Adrenocortical Disease, Primary, 2

Articles related to Pigmented Nodular Adrenocortical Disease, Primary, 2:

# Title Authors PMID Year
1
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. 6 57
16767104 2006

Variations for Pigmented Nodular Adrenocortical Disease, Primary, 2

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

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PDE11A NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter) SNV Pathogenic 5286 rs76308115 2:178879181-178879181 2:178014454-178014454
2 PDE11A NM_001077197.1(PDE11A):c.20_21del (p.Arg7fs) Deletion Likely pathogenic 225432 rs202117698 2:178969170-178969171 2:178104443-178104444
3 PDE11A NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter) SNV Likely pathogenic 225433 rs771254375 2:178592878-178592878 2:177728150-177728150
4 PDE11A NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter) SNV Likely pathogenic 225434 rs188985665 2:178879115-178879115 2:178014388-178014388
5 PDE11A-AS1 NM_016953.4(PDE11A):c.2268_2272del (p.Ser757fs) Deletion Likely pathogenic 225431 rs769235876 2:178562133-178562137 2:177697405-177697409
6 PDE11A Duplication Uncertain significance 560139 2:178562111-178577218
7 DSC2 NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter) SNV Uncertain significance 617896 rs794728075 18:28662344-28662344 18:31082378-31082378
8 PDE11A NM_016953.4(PDE11A):c.1973A>G (p.Tyr658Cys) SNV Uncertain significance 801831 rs77597060 2:178592456-178592456 2:177727728-177727728
9 PDE11A NM_016953.4(PDE11A):c.1655T>C (p.Ile552Thr) SNV Uncertain significance 725066 rs138427178 2:178681638-178681638 2:177816911-177816911
10 PDE11A NM_016953.4(PDE11A):c.1660del (p.Cys554fs) Deletion Uncertain significance 725065 rs573163079 2:178681633-178681633 2:177816906-177816906
11 PDE11A NM_016953.4(PDE11A):c.171del (p.Thr58fs) Deletion Uncertain significance 208602 rs529789124 2:178936994-178936994 2:178072267-178072267

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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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