MCID: PGM022
MIFTS: 23

Pigmented Nodular Adrenocortical Disease, Primary, 4

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

Aliases & Classifications for Pigmented Nodular Adrenocortical Disease, Primary, 4

MalaCards integrated aliases for Pigmented Nodular Adrenocortical Disease, Primary, 4:

Name: Pigmented Nodular Adrenocortical Disease, Primary, 4 57 29 6 73
Chromosome 19p13 Duplication Syndrome 57 75
Ppnad4 57 75
Adrenocortical Disease, Nodular, Pigmented, Primary, Type 4 40
Primary Pigmented Nodular Adrenocortical Disease 4 75
Cushing Syndrome, Adrenal, Due to Ppnad4 57
Adrenal Cushing Syndrome Due to Ppnad4 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable age at onset
somatic mutations occur in adrenal tumor tissue


HPO:

32
pigmented nodular adrenocortical disease, primary, 4:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Pigmented Nodular Adrenocortical Disease, Primary, 4

UniProtKB/Swiss-Prot : 75 Primary pigmented nodular adrenocortical disease 4: 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, 4, is also known as chromosome 19p13 duplication syndrome, and has symptoms including cushingoid facies An important gene associated with Pigmented Nodular Adrenocortical Disease, Primary, 4 is PRKACA (Protein Kinase CAMP-Activated Catalytic Subunit Alpha). Affiliated tissues include adrenal gland, cortex and skin, and related phenotypes are emotional lability and depressivity

OMIM : 57 Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by Cao et al., 2014; Sato et al., 2014). (615830)

Related Diseases for Pigmented Nodular Adrenocortical Disease, Primary, 4

Symptoms & Phenotypes for Pigmented Nodular Adrenocortical Disease, Primary, 4

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
emotional lability
depression

Cardiovascular Vascular:
hypertension

Skin Nails Hair Skin:
acne
easy bruising
skin fragility
stria

Muscle Soft Tissue:
proximal muscle weakness
buffalo hump

Growth Weight:
weight gain

Endocrine Features:
diabetes mellitus
cushing syndrome
acth-independent hypercortisolemia
adrenal hyperplasia, bilateral
adrenal adenomas, bilateral

Skeletal:
osteopenia
osteoporosis

Skin Nails Hair Hair:
alopecia
hirsutism

Laboratory Abnormalities:
increased serum cortisol

Head And Neck Face:
moon facies


Clinical features from OMIM:

615830

Human phenotypes related to Pigmented Nodular Adrenocortical Disease, Primary, 4:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 emotional lability 32 HP:0000712
2 depressivity 32 HP:0000716
3 diabetes mellitus 32 HP:0000819
4 hypertension 32 HP:0000822
5 osteopenia 32 HP:0000938
6 osteoporosis 32 HP:0000939
7 bruising susceptibility 32 HP:0000978
8 hirsutism 32 HP:0001007
9 fragile skin 32 HP:0001030
10 acne 32 HP:0001061
11 primary hypercorticolism 32 HP:0001579
12 alopecia 32 HP:0001596
13 proximal muscle weakness 32 HP:0003701
14 increased body weight 32 HP:0004324
15 adrenal hyperplasia 32 HP:0008221
16 dorsocervical fat pad 32 HP:0025383
17 moon facies 32 HP:0500011

UMLS symptoms related to Pigmented Nodular Adrenocortical Disease, Primary, 4:


cushingoid facies

Drugs & Therapeutics for Pigmented Nodular Adrenocortical Disease, Primary, 4

Search Clinical Trials , NIH Clinical Center for Pigmented Nodular Adrenocortical Disease, Primary, 4

Genetic Tests for Pigmented Nodular Adrenocortical Disease, Primary, 4

Genetic tests related to Pigmented Nodular Adrenocortical Disease, Primary, 4:

# Genetic test Affiliating Genes
1 Pigmented Nodular Adrenocortical Disease, Primary, 4 29 PRKACA

Anatomical Context for Pigmented Nodular Adrenocortical Disease, Primary, 4

MalaCards organs/tissues related to Pigmented Nodular Adrenocortical Disease, Primary, 4:

41
Adrenal Gland, Cortex, Skin

Publications for Pigmented Nodular Adrenocortical Disease, Primary, 4

Variations for Pigmented Nodular Adrenocortical Disease, Primary, 4

UniProtKB/Swiss-Prot genetic disease variations for Pigmented Nodular Adrenocortical Disease, Primary, 4:

75
# Symbol AA change Variation ID SNP ID
1 PRKACA p.Leu206Arg VAR_071707 rs386352352

ClinVar genetic disease variations for Pigmented Nodular Adrenocortical Disease, Primary, 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKACA NM_002730.3(PRKACA): c.617T> G (p.Leu206Arg) single nucleotide variant Pathogenic/Likely pathogenic rs386352352 GRCh37 Chromosome 19, 14208416: 14208416
2 PRKACA NM_002730.3(PRKACA): c.617T> G (p.Leu206Arg) single nucleotide variant Pathogenic/Likely pathogenic rs386352352 GRCh38 Chromosome 19, 14097604: 14097604
3 PRKACA NM_002730.3(PRKACA): c.597_599dupGTG (p.Leu199_Cys200insTrp) duplication Pathogenic rs724160013 GRCh38 Chromosome 19, 14097622: 14097624
4 PRKACA NM_002730.3(PRKACA): c.597_599dupGTG (p.Leu199_Cys200insTrp) duplication Pathogenic rs724160013 GRCh37 Chromosome 19, 14208434: 14208436

Expression for Pigmented Nodular Adrenocortical Disease, Primary, 4

Search GEO for disease gene expression data for Pigmented Nodular Adrenocortical Disease, Primary, 4.

Pathways for Pigmented Nodular Adrenocortical Disease, Primary, 4

GO Terms for Pigmented Nodular Adrenocortical Disease, Primary, 4

Sources for Pigmented Nodular Adrenocortical Disease, Primary, 4

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
Content
Loading form....