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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Heart Neoplasms (D006338)
Parent Node: Myxoma (D009232)
Parent Node: Skin Abnormalities (D012868)
..Starting node ..Carney Complex (D056733)
Child Nodes:
........Carney Complex Variant (C563845)
Sister Nodes:
..Acrodermatitis (D000169) 1
..Anetoderma (D057088) 2
..Arthropathy, Erosive (C565273)
..Barber Say syndrome (C537908)
..Blepharophimosis syndrome type 1 (C536233)
..Blepharophimosis syndrome type 2 (C536234)
..Blepharophimosis with ptosis, syndactyly, and short stature (C536235)
..Blepharophimosis, Ptosis, and Epicanthus Inversus (C562419)
..Book Syndrome (C562993)
..Carney Complex (D056733) 1
..COCOON SYNDROME (OMIM:613630)
..Comedones, Familial Dyskeratotic (C562838)
..Cutis Gyrata Syndrome of Beare And Stevenson (C565129)
..Dermal Ridges, Nelson Syndrome (C565110)
..Dermal Ridges, Patternless (C565109)
..Dermoodontodysplasia (C565103)
..Dyskeratosis Congenita (D019871) 3
..Dyskeratosis, Hereditary Benign Intraepithelial (C562551)
..Ectodermal Dysplasia (D004476) 144
..Ehlers-Danlos Syndrome (D004535) 23
..Epidermolysis Bullosa (D004820) 29
..Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract (C565584)
..Familial popliteal pterygium syndrome (C535891)
..Hairy palms and soles (C535620)
..Hemangiomatosis, Cutaneous, with Associated Features (C562438)
..Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations (C566153)
..Hypohidrosis aith Abnormal Palmar Dermal Ridges (C565481)
..Ichthyosis (D007057) 66
..Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
..Incontinentia Pigmenti (D007184) 2
..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..Michelin tire baby syndrome (C537575)
..Microphthalmia, syndromic 7 (C537466)
..Multiple pterygium syndrome (C537377) 1
..Oculocerebrocutaneous syndrome (C538088)
..Poikiloderma with Neutropenia (C565820)
..Poikiloderma, Hereditary Sclerosing (C562824)
..Port-Wine Stain (D019339) 4
..Prolidase Deficiency (D056732)
..Pseudoxanthoma Elasticum (D011561) 2
..Pterygium Colli, Isolated (C566741)
..Ridges-off-the-end syndrome (C531754)
..Rothmund-Thomson Syndrome (D011038) 5
..Sclerema Neonatorum (D012593)
..Skin/Hair/Eye Pigmentation, Variation In, 10 (C567376)
..Skin/Hair/Eye Pigmentation, Variation In, 11 (C567374)
..Skin/Hair/Eye Pigmentation, Variation In, 4 (C567300)
..Skin/Hair/Eye Pigmentation, Variation In, 5 (C567119)
..Skin/Hair/Eye Pigmentation, Variation In, 6 (C567139)
..Skin/Hair/Eye Pigmentation, Variation In, 7 (C567155)
..Skin/Hair/Eye Pigmentation, Variation In, 8 (C567096)
..Skin/Hair/Eye Pigmentation, Variation In, 9 (C567091)
..Tight skin contracture syndrome, lethal (C536920)
..Trichothiodystrophy Syndromes (D054463) 5
..Urban Schosser Spohn syndrome (C536476)
..Vascular Hyalinosis (C564750)
..Winter Shortland Temple syndrome (C536735)
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1774

Name:

Carney Complex

Definition:

Autosomal dominant syndrome characterized by cardiac and cutaneous MYXOMAS; LENTIGINOSIS (spotty pigmentation of the skin), and endocrinopathy and its associated endocrine tumors. The cardiac myxomas may lead to SUDDEN CARDIAC DEATH and other complications in Carney complex patients. The gene coding for the PRKAR1A protein is one of the causative genetic loci (type 1). A second locus is at chromosome 2p16 (type 2).

Alternative IDs:

OMIM:160980|OMIM:605244

ParentIDs:

MESH:D000015|MESH:D006338|MESH:D009232|MESH:D012868

TreeNumbers:

C04.557.450.565.550.312 |C04.588.894.309.500 |C14.280.459.500 |C16.131.077.229 |C16.131.831.108

Synonyms:

Slim Mappings:

Cancer|Cardiovascular disease|Congenital abnormality

Reference:

MedGen: D056733
MeSH: D056733
OMIM: 160980;

Genes: CNC2; PRKAR1A;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000478	Abnormality of the eye
3	HP:0001635	Congestive heart failure
4	HP:0000845	Elevated circulating growth hormone concentration
5	HP:0001480	Freckling
6	HP:0001425	Heterogeneous
7	HP:0001007	Hirsutism
8	HP:0006769	Myxoid subcutaneous tumors
9	HP:0003764	Nevus
10	HP:0002666	Pheochromocytoma
11	HP:0002893	Pituitary adenoma
12	HP:0005587	Profuse pigmented skin lesions
13	HP:0002297	Red hair
14	HP:0100008	Schwannoma
15	HP:0002890	Thyroid carcinoma
16	HP:0008225	Thyroid follicular hyperplasia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_212472.2(PRKAR1A):c.1A>G (p.Met1Val)	5573	PRKAR1A	Pathogenic	281864779	RCV000013505;	N	MedGen:C2607929,OMIM:160980	17	66511541	66511541	NM_212472.2:c.1A>G	NP_997637.1:p.Met1Val	NC_000017.10:g.66511541A>G	OMIM Allelic Variant:188830.0008	C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.82C>T (p.Gln28Ter)	5573	PRKAR1A	Pathogenic	281864780	RCV000034296;	N	MedGen:C2607929,OMIM:160980	17	66511622	66511622	NM_212472.2:c.82C>T	NP_997637.1:p.Gln28Ter	NC_000017.10:g.66511622C>T	-	C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.85_95delGCGCTGCTCAA (p.Ala29Argfs)	5573	PRKAR1A	Pathogenic	281864787	RCV000034298;	N	MedGen:C2607929,OMIM:160980	17	66511625	66511635	NM_212472.2:c.85_95delGCGCTGCTCAA	NP_997637.1:p.Ala29Argfs	NC_000017.10:g.66511625_66511635delGCGCTGCTCAA	-	C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.101_105delCTATT (p.Ser34Cysfs)	5573	PRKAR1A	Pathogenic	281864788	RCV000034282;	N	MedGen:C2607929,OMIM:160980	17	66511641	66511645	NM_212472.2:c.101_105delCTATT	NP_997637.1:p.Ser34Cysfs	NC_000017.10:g.66511641_66511645delCTATT	-	C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.109C>T (p.Gln37Ter)	5573	PRKAR1A	Pathogenic	281864781	RCV000034283;	N	MedGen:C2607929,OMIM:160980	17	66511649	66511649	NM_212472.2:c.109C>T	NP_997637.1:p.Gln37Ter	NC_000017.10:g.66511649C>T	-	C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.124C>T (p.Arg42Ter)	5573	PRKAR1A	Pathogenic	281864782	RCV000034284;	N	MedGen:C2607929,OMIM:160980	17	66511664	66511664	NM_212472.2:c.124C>T	NP_997637.1:p.Arg42Ter	NC_000017.10:g.66511664C>T	-	C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.139delA (p.Met47Trpfs)	5573	PRKAR1A	Pathogenic	281864789	RCV000034285;	N	MedGen:C2607929,OMIM:160980	17	66511679	66511679	NM_212472.2:c.139delA	NP_997637.1:p.Met47Trpfs	NC_000017.10:g.66511679delA	-	C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.177+3A>G	5573	PRKAR1A	Pathogenic	797044568	RCV000192091;	N	MedGen:C2607929,OMIM:160980	17	66511720	66511720	NM_212472.2:c.177+3A>G		NC_000017.10:g.66511720A>G	-	C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.178-2A>G	5573	PRKAR1A	Pathogenic	281864796	RCV000034286;	N	MedGen:C2607929,OMIM:160980	17	66518895	66518895	NM_212472.2:c.178-2A>G		NC_000017.10:g.66518895A>G	-	C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.178_348del171 (p.Glu60_Lys116del)	5573	PRKAR1A	Pathogenic	-1	RCV000034287;	N	MedGen:C2607929,OMIM:160980	17	66518897	66519067	NM_212472.2:c.178_348del171	NP_997637.1:p.Glu60_Lys116del		dbVar:nssv3761551,dbVar:nsv1067896	C2607929 160980 Carney complex, type 1
NM_002734.4(PRKAR1A):c.220C>T (p.Arg74Cys)	5573	PRKAR1A	Pathogenic;Uncertain significance	137853303	RCV000013510; RCV000148738;	N	MedGen:C0406810; MedGen:C2607929,OMIM:160980	17	66518939	66518939	NM_002734.4:c.220C>T	NP_002725.1:p.Arg74Cys	NC_000017.10:g.66518939C>T	OMIM Allelic Variant:188830.0013	C0406810 Carney complex; C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.286C>T (p.Arg96Ter)	5573	PRKAR1A	Pathogenic	281864783	RCV000034288;	N	MedGen:C2607929,OMIM:160980	17	66519005	66519005	NM_212472.2:c.286C>T	NP_997637.1:p.Arg96Ter	NC_000017.10:g.66519005C>T	-	C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.348+1G>C	5573	PRKAR1A	Pathogenic	281864797	RCV000034289;	N	MedGen:C2607929,OMIM:160980	17	66519068	66519068	NM_212472.2:c.348+1G>C		NC_000017.10:g.66519068G>C	-	C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.491_492delTG (p.Val164Aspfs)	5573	PRKAR1A	Pathogenic	281864790	RCV000013498;	N	MedGen:C2607929,OMIM:160980	17	66520207	66520208	NM_212472.2:c.491_492delTG	NP_997637.1:p.Val164Aspfs	NC_000017.10:g.66520207_66520208delTG	OMIM Allelic Variant:188830.0001	C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.550-9_550-2del	5573	PRKAR1A	Pathogenic	281864800	RCV000034290;	N	MedGen:C2607929,OMIM:160980	17	66521886	66521893	NM_212472.2:c.550-9_550-2del		NC_000017.10:g.66521886_66521893delGCACTTTA	-	C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.566_567delAAinsCAC (p.Glu189Alafs)	5573	PRKAR1A	Pathogenic	281864792	RCV000034291;	N	MedGen:C2607929,OMIM:160980	17	66521911	66521912	NM_212472.2:c.566_567delAAinsCAC	NP_997637.1:p.Glu189Alafs	NC_000017.10:g.66521911_66521912delAAinsCAC	-	C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.638C>A (p.Ala213Asp)	5573	PRKAR1A	Pathogenic	281864786	RCV000034292;	N	MedGen:C2607929,OMIM:160980	17	66521983	66521983	NM_212472.2:c.638C>A	NP_997637.1:p.Ala213Asp	NC_000017.10:g.66521983C>A	-	C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.682C>T (p.Arg228Ter)	5573	PRKAR1A	Pathogenic	281864784	RCV000034293;	N	MedGen:C2607929,OMIM:160980	17	66522027	66522027	NM_212472.2:c.682C>T	NP_997637.1:p.Arg228Ter	NC_000017.10:g.66522027C>T	-	C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.693dupT (p.Arg232Terfs)	5573	PRKAR1A	Pathogenic	281864793	RCV000034294;	N	MedGen:C2607929,OMIM:160980	17	66522038	66522038	NM_212472.2:c.693dupT	NP_997637.1:p.Arg232Terfs	NC_000017.10:g.66522038dupT	-	C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.708+1G>T	5573	PRKAR1A	Pathogenic	281864798	RCV000013508;	N	MedGen:C2607929,OMIM:160980	17	66522054	66522054	NM_212472.2:c.708+1G>T		NC_000017.10:g.66522054G>T	OMIM Allelic Variant:188830.0011	C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.711_712dupAA (p.Ser238Lysfs)	5573	PRKAR1A	Pathogenic	281864794	RCV000034295;	N	MedGen:C2607929,OMIM:160980	17	66523983	66523984	NM_212472.2:c.711_712dupAA	NP_997637.1:p.Ser238Lysfs	NC_000017.10:g.66523983_66523984dupAA	-	C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.786_787delGGinsCT (p.Trp262_Glu263delinsCysTer)	5573	PRKAR1A	Pathogenic	281864785	RCV000013499;	N	MedGen:C2607929,OMIM:160980	17	66525027	66525028	NM_212472.2:c.786_787delGGinsCT	NP_997637.1:p.Trp262_Glu263delinsCysTer	NC_000017.10:g.66525027_66525028delGGinsCT	OMIM Allelic Variant:188830.0002	C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.846_847insA (p.Val283Serfs)	5573	PRKAR1A	Pathogenic	281864795	RCV000034297;	N	MedGen:C2607929,OMIM:160980	17	66525087	66525088	NM_212472.2:c.846_847insA	NP_997637.1:p.Val283Serfs	NC_000017.10:g.66525087_66525088insA	-	C2607929 160980 Carney complex, type 1
NM_212472.2(PRKAR1A):c.891+3A>G	5573	PRKAR1A	Pathogenic	281864799	RCV000013500;	N	MedGen:C2607929,OMIM:160980	17	66525135	66525135	NM_212472.2:c.891+3A>G		NC_000017.10:g.66525135A>G	OMIM Allelic Variant:188830.0003	C2607929 160980 Carney complex, type 1