MCID: CRN243
MIFTS: 32

Carney Complex, Type 1

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Carney Complex, Type 1

MalaCards integrated aliases for Carney Complex, Type 1:

Name: Carney Complex, Type 1 54 71 29 13 69
Myxoma, Spotty Pigmentation, and Endocrine Overactivity 71
Carney Myxoma-Endocrine Complex 71
Carney Complex 1 71
Carney Syndrome 71
Carney Complex 69
Lamb Syndrome 71
Name Syndrome 71
Cnc1 71
Car 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see cnc2, )


HPO:

32
carney complex, type 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Carney Complex, Type 1

OMIM : 54
Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; 131100 and MEN2; 171400). Carney complex shows some similarities to McCune-Albright syndrome (MAS; 174800), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS; 175200). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001). (160980)

MalaCards based summary : Carney Complex, Type 1, also known as myxoma, spotty pigmentation, and endocrine overactivity, is related to carney complex variant and pigmented nodular adrenocortical disease, primary, 1, and has symptoms including hirsutism, congestive heart failure and freckling. An important gene associated with Carney Complex, Type 1 is PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha). The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and heart.

UniProtKB/Swiss-Prot : 71 Carney complex 1: CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas.

Related Diseases for Carney Complex, Type 1

Diseases in the Carney Complex Variant family:

Carney Complex, Type 1

Diseases related to Carney Complex, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 carney complex variant 11.0
2 pigmented nodular adrenocortical disease, primary, 1 10.9

Symptoms & Phenotypes for Carney Complex, Type 1

Symptoms via clinical synopsis from OMIM:

54

Cardiovascular- Heart:
congestive heart failure
atrial myxoma
ventricular myxoma

Skin Nails & Hair- Hair:
red hair
hirsuitism

Endocrine Features:
acromegaly
pigmented micronodular adrenal dysplasia
cushing disease
thyroid follicular hyperplasia

Neoplasia:
pheochromocytoma
thyroid carcinoma
pituitary adenoma
myxoid subcutaneous tumors
primary adrenocortical nodular hyperplasia
more
Skin Nails & Hair- Skin:
nevi
profuse pigmented skin lesions
ephelides
centrofacial/mucosal lentigines
blue nevi

Head And Neck- Eyes:
conjunctival and scleral pigmentation
eyelid myxoma


Clinical features from OMIM:

160980

Human phenotypes related to Carney Complex, Type 1:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 hirsutism 32 HP:0001007
2 congestive heart failure 32 HP:0001635
3 freckling 32 HP:0001480
4 pheochromocytoma 32 HP:0002666
5 red hair 32 HP:0002297
6 thyroid carcinoma 32 HP:0002890
7 pituitary adenoma 32 HP:0002893
8 profuse pigmented skin lesions 32 HP:0005587
9 thyroid follicular hyperplasia 32 HP:0008225
10 myxoid subcutaneous tumors 32 HP:0006769
11 schwannoma 32 HP:0100008
12 abnormality of the eye 32 HP:0000478
13 nevus 32 HP:0003764
14 growth hormone excess 32 HP:0000845

Drugs & Therapeutics for Carney Complex, Type 1

Drugs for Carney Complex, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Linsitinib in Treating Patients With Gastrointestinal Stromal Tumors Completed NCT01560260 Phase 2 Linsitinib
2 Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in Acromegaly Unknown status NCT01902420
3 Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC) Completed NCT00668291
4 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Carney Complex, Type 1

Genetic Tests for Carney Complex, Type 1

Genetic tests related to Carney Complex, Type 1:

id Genetic test Affiliating Genes
1 Carney Complex, Type 1 29

Anatomical Context for Carney Complex, Type 1

MalaCards organs/tissues related to Carney Complex, Type 1:

39
Skin, Thyroid, Heart, Pituitary, Eye

Publications for Carney Complex, Type 1

Variations for Carney Complex, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Carney Complex, Type 1:

71
id Symbol AA change Variation ID SNP ID
1 PRKAR1A p.Ser9Asn VAR_046894
2 PRKAR1A p.Arg74Cys VAR_046895 rs137853303
3 PRKAR1A p.Arg146Ser VAR_046896
4 PRKAR1A p.Asp183Tyr VAR_046897
5 PRKAR1A p.Ala213Asp VAR_046898 rs281864786
6 PRKAR1A p.Gly289Trp VAR_046899

ClinVar genetic disease variations for Carney Complex, Type 1:

6 (show all 30)
id Gene Variation Type Significance SNP ID Assembly Location
1 PRKAR1A NM_212472.2(PRKAR1A): c.491_492delTG (p.Val164Aspfs) deletion Pathogenic rs281864790 GRCh37 Chromosome 17, 66520207: 66520208
2 PRKAR1A NM_212472.2(PRKAR1A): c.786_787delGGinsCT (p.Trp262_Glu263delinsCysTer) indel Pathogenic rs281864785 GRCh37 Chromosome 17, 66525027: 66525028
3 PRKAR1A NM_212472.2(PRKAR1A): c.891+3A> G single nucleotide variant Pathogenic rs281864799 GRCh37 Chromosome 17, 66525135: 66525135
4 PRKAR1A PRKAR1A, 1-BP DEL, 710G deletion Pathogenic
5 PRKAR1A PRKAR1A, 2-BP DEL, 845TC deletion Pathogenic
6 PRKAR1A PRKAR1A, 2-BP DEL, 576TG deletion Pathogenic
7 PRKAR1A NM_212472.2(PRKAR1A): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs281864779 GRCh37 Chromosome 17, 66511541: 66511541
8 PRKAR1A NM_212472.2(PRKAR1A): c.708+1G> T single nucleotide variant Pathogenic rs281864798 GRCh37 Chromosome 17, 66522054: 66522054
9 PRKAR1A NM_212472.2(PRKAR1A): c.286C> T (p.Arg96Ter) single nucleotide variant Pathogenic rs281864783 GRCh38 Chromosome 17, 68522864: 68522864
10 PRKAR1A NM_212472.2(PRKAR1A): c.101_105delCTATT (p.Ser34Cysfs) deletion Pathogenic rs281864788 GRCh37 Chromosome 17, 66511641: 66511645
11 PRKAR1A NM_212472.2(PRKAR1A): c.109C> T (p.Gln37Ter) single nucleotide variant Pathogenic rs281864781 GRCh37 Chromosome 17, 66511649: 66511649
12 PRKAR1A NM_212472.2(PRKAR1A): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs281864782 GRCh37 Chromosome 17, 66511664: 66511664
13 PRKAR1A NM_212472.2(PRKAR1A): c.139delA (p.Met47Trpfs) deletion Pathogenic rs281864789 GRCh37 Chromosome 17, 66511679: 66511679
14 PRKAR1A NM_212472.2(PRKAR1A): c.178-2A> G single nucleotide variant Pathogenic rs281864796 GRCh37 Chromosome 17, 66518895: 66518895
15 PRKAR1A NM_212472.2(PRKAR1A): c.178_348del171 (p.Glu60_Lys116del) deletion Pathogenic GRCh37 Chromosome 17, 66518897: 66519067
16 PRKAR1A NM_212472.2(PRKAR1A): c.348+1G> C single nucleotide variant Pathogenic rs281864797 GRCh37 Chromosome 17, 66519068: 66519068
17 PRKAR1A NM_212472.2(PRKAR1A): c.550-9_550-2delGCACTTTA deletion Pathogenic rs281864800 GRCh37 Chromosome 17, 66521886: 66521893
18 PRKAR1A NM_212472.2(PRKAR1A): c.566_567delAAinsCAC (p.Glu189Alafs) indel Pathogenic rs281864792 GRCh37 Chromosome 17, 66521911: 66521912
19 PRKAR1A NM_212472.2(PRKAR1A): c.638C> A (p.Ala213Asp) single nucleotide variant Pathogenic rs281864786 GRCh37 Chromosome 17, 66521983: 66521983
20 PRKAR1A NM_212472.2(PRKAR1A): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs281864784 GRCh37 Chromosome 17, 66522027: 66522027
21 PRKAR1A NM_212472.2(PRKAR1A): c.693_694insT (p.Arg232Terfs) insertion Pathogenic rs281864793 GRCh37 Chromosome 17, 66522038: 66522038
22 PRKAR1A NM_212472.2(PRKAR1A): c.712_713insAA (p.Ser238Lysfs) insertion Pathogenic rs281864794 GRCh37 Chromosome 17, 66523983: 66523984
23 PRKAR1A NM_212472.2(PRKAR1A): c.82C> T (p.Gln28Ter) single nucleotide variant Pathogenic rs281864780 GRCh37 Chromosome 17, 66511622: 66511622
24 PRKAR1A NM_212472.2(PRKAR1A): c.846_847insA (p.Val283Serfs) insertion Pathogenic rs281864795 GRCh37 Chromosome 17, 66525087: 66525088
25 PRKAR1A NM_212472.2(PRKAR1A): c.85_95delGCGCTGCTCAA (p.Ala29Argfs) deletion Pathogenic rs281864787 GRCh37 Chromosome 17, 66511625: 66511635
26 PRKAR1A NC_000017.11: g.(?_68512379)_(68512548_?)del deletion Pathogenic GRCh38 Chromosome 17, 68512379: 68512548
27 PRKAR1A NC_000017.11: g.(?_68512379)_(68533431_?)del deletion Pathogenic GRCh38 Chromosome 17, 68512379: 68533431
28 PRKAR1A NC_000017.11: g.(?_68515394)_(68515576_?)del deletion Pathogenic GRCh38 Chromosome 17, 68515394: 68515576
29 PRKAR1A NC_000017.11: g.(?_68528870)_(68530449_?)del deletion Pathogenic GRCh38 Chromosome 17, 68528870: 68530449
30 PRKAR1A NM_212472.2(PRKAR1A): c.177+3A> G single nucleotide variant Pathogenic rs797044568 GRCh37 Chromosome 17, 66511720: 66511720

Expression for Carney Complex, Type 1

Search GEO for disease gene expression data for Carney Complex, Type 1.

Pathways for Carney Complex, Type 1

GO Terms for Carney Complex, Type 1

Sources for Carney Complex, Type 1

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16 ExPASy
18 FMA
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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