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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: Ectodermal Dysplasia (D004476)
Parent Node: Facies (D019066)
Parent Node: Failure to Thrive (D005183)
Parent Node: Heart Defects, Congenital (D006330)
..Starting node ..Cardiofaciocutaneous syndrome (C535579)
Child Nodes:
Sister Nodes:
..22q11 Deletion Syndrome (D058165) 5
..Aarskog Syndrome (C535331) 1
..Al Gazali Aziz Salem syndrome (C535613)
..Alagille Syndrome (D016738)
..Amastia, Bilateral, With Ureteral Triplication And Dysmorphism (C566295)
..Aortic Coarctation (D001017) 3
..Aortic Valve Disease (C563178) 1
..Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts (C566997)
..Arrhythmogenic Right Ventricular Dysplasia (D019571) 13
..Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..Baetz-Greenwalt syndrome (C537795)
..Barth Syndrome (D056889) 2
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Beemer Ertbruggen syndrome (C537668)
..Bixler Christian Gorlin syndrome (C537632)
..Blepharophimosis syndrome Ohdo type (C536232)
..Bonneau Syndrome (C564875)
..Burn-Mckeown syndrome (C537411)
..Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
..Cardiac Valvular Defect, Developmental (C565882)
..Cardiac valvular dysplasia, X-linked (C535576)
..Cardioauditory syndrome of Sanchez Cascos (C535577)
..Cardiocranial syndrome (C535578)
..Cardiofaciocutaneous syndrome (C535579)
..Chromosome 1q21.1 Duplication Syndrome (C567290)
..Chromosome 6pter-P24 Deletion Syndrome (C567239)
..Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..Congenital Heart Defects, X-Linked (C567444)
..Conotruncal cardiac defects (C535464) 1
..Cor Triatriatum (D003310)
..Coronary Vessel Anomalies (D003330) 3
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Cranioacrofacial Syndrome (C565147)
..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..Craniofaciofrontodigital Syndrome (C567298)
..Crisscross Heart (D003420)
..Deafness, Congenital Heart Defects, and Posterior Embryotoxon (C566604)
..Dextrocardia (D003914) 10
..Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature (C565092)
..Ductus Arteriosus, Patent (D004374) 6
..Ebstein Anomaly (D004437)
..Ectopia Cordis (D054083)
..Ectrodactyly cardiopathy dysmorphism (C536187)
..Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia (C563344)
..Eisenmenger Complex (D004541)
..Ellis Yale Winter syndrome (C536205)
..Emanuel syndrome (C535733)
..Faciocardiomelic Dysplasia, Lethal (C565578)
..Faciocardiomelic Syndrome (C567176)
..Faciocardiorenal syndrome (C536388)
..Familial anomalous origin of right pulmonary artery (C535681)
..Fragile Site 16p12 (C565001)
..Frontoocular Syndrome (C565340)
..Gay Feinmesser Cohen syndrome (C537676)
..Genito palato cardiac syndrome (C537683)
..Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia (C565755)
..Heart defects limb shortening (C535850)
..Heart Septal Defects (D006343) 47
..Heart-hand syndrome, Slovenian type (C535852)
..Heart-hand syndrome, Spanish type (C535853)
..Hecht Scott syndrome (C535856)
..Heterotaxy Syndrome (D059446) 7
..Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction (C563939)
..Hittner Hirsch Kreh syndrome (C538323)
..Ho Kaufman Mcalister syndrome (C538325)
..Holt-Oram syndrome (C535326)
..Holzgreve Wagner Rehder syndrome (C535327)
..Hydrolethalus syndrome (C536079)
..Hypoplastic Left Heart Syndrome (D018636)
..Isolated Noncompaction of the Ventricular Myocardium (D056830) 5
..Jarcho-Levin syndrome (C537565) 1
..Kasznica Carlson Coppedge syndrome (C537011)
..Kleefstra Syndrome (C563043)
..LEOPARD Syndrome (D044542) 2
..Levocardia (D007979)
..Long QT Syndrome (D008133) 20
..Lowry Maclean syndrome (C537037)
..Malpuech facial clefting syndrome (C535704)
..Marcus Gunn phenomenon (C535908)
..Marfan Syndrome (D008382) 9
..McDonough syndrome (C538158)
..McKusick Kaufman syndrome (C538159)
..McPherson Clemens syndrome (C538160)
..Meacham Syndrome (C563821)
..Mehta Lewis Patton syndrome (C536147)
..Mexican Cardiomelic Dysplasia (C563087)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects (C564690)
..Noonan Syndrome (D009634) 12
..Orstavik Lindemann Solberg syndrome (C537137)
..Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease (C564011)
..Pilotto syndrome (C537400)
..Powell Chandra Saal syndrome (C538357)
..Pseudodiastrophic dysplasia (C535826)
..Pulmonary Atresia with Intact Ventricular Septum (C562832)
..Right ventricle hypoplasia (C535682)
..Rommen Mueller Sybert syndrome (C535871)
..Saal Bulas syndrome (C537193)
..Sacral meningocele conotruncal heart defects (C537223)
..Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities (C564262)
..Short QT Syndrome 1 (C566506)
..Short QT Syndrome 2 (C566505)
..Short QT Syndrome 3 (C566504)
..Simpson-Golabi-Behmel syndrome (C537340)
..Sonoda syndrome (C536680)
..Steinfeld Syndrome (C566655)
..Stratton-Parker Syndrome (C566105)
..Subaortic Stenosis, Membranous (C564793)
..Tabatznik syndrome (C536784)
..Tamari Goodman syndrome (C536896)
..TARP syndrome (C536942)
..Ter Haar syndrome (C537274)
..Tetralogy of Fallot (D013771) 4
..Thomas syndrome (C536514)
..Transposition of Great Vessels (D014188) 5
..Tricuspid Atresia (D018785) 1
..Trilogy of Fallot (D014286)
..Turner Syndrome (D014424) 2
..Uhl anomaly (C536932)
..VACTERL association (C536495)
..VACTERL association with hydrocephaly, X-linked (C536520)
..VACTERL hydrocephaly (C536521)
..VATER association (C536534)
..Vater Association With Hydrocephalus (C564752)
..Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency (C564244)
..Ventricular extrasystoles perodactyly Robin sequence (C536537)
..Verloove-Vanhorick Brubakk syndrome (C536541)
..Wolff-Parkinson-White Syndrome (D014927)
..Young Simpson syndrome (C536717)
..Zunich neuroectodermal syndrome (C536729)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1702

Name:

Cardiofaciocutaneous syndrome

Definition:

Alternative IDs:

OMIM:115150

ParentIDs:

MESH:D004476|MESH:D005183|MESH:D006330|MESH:D019066

TreeNumbers:

C14.240.400/C535579 |C14.280.400/C535579 |C16.131.077.350/C535579 |C16.131.240.400/C535579 |C16.131.831.350/C535579 |C16.320.850.250/C535579 |C17.800.804.350/C535579 |C17.800.827.250/C535579 |C23.550.291.812/C535579 |C23.888.338/C535579

Synonyms:

Cardio-Facio-Cutaneous Syndrome |CARDIOFACIOCUTANEOUS SYNDROME 1 |CFC1 |CFCS |CFC SYNDROME

Slim Mappings:

Reference:

MedGen: C535579
MeSH: C535579
OMIM: 115150;

Genes: BRAF;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003577	Congenital onset
3	HP:0000164	Abnormality of the dentition
4	HP:0002223	Absent eyebrow
5	HP:0000561	Absent eyelashes
6	HP:0009908	Anterior creases of earlobe
7	HP:0000463	Anteverted nares
8	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
9	HP:0001047	Atopic dermatitis
10	HP:0001631	Atrial septal defect
11	HP:0000414	Bulbous nose
12	HP:0001048	Cavernous hemangioma
13	HP:0002120	Cerebral cortical atrophy
14	HP:0004209	Clinodactyly of the 5th finger
15	HP:0000280	Coarse facial features
16	HP:0002019	Constipation
17	HP:0002212	Curly hair
18	HP:0002002	Deep philtrum
19	HP:0002750	Delayed skeletal maturation
20	HP:0000689	Dental malocclusion
21	HP:0005280	Depressed nasal bridge
22	HP:0000268	Dolichocephaly
23	HP:0000494	Downslanted palpebral fissures
24	HP:0000286	Epicanthus
25	HP:0001508	Failure to thrive
26	HP:0008872	Feeding difficulties in infancy
27	HP:0002020	Gastroesophageal reflux
28	HP:0001290	Generalized hypotonia
29	HP:0000365	Hearing impairment
30	HP:0000218	High palate
31	HP:0000238	Hydrocephalus
32	HP:0000126	Hydronephrosis
33	HP:0001187	Hyperextensibility of the finger joints
34	HP:0000962	Hyperkeratosis
35	HP:0000316	Hypertelorism
36	HP:0001276	Hypertonia
37	HP:0001639	Hypertrophic cardiomyopathy
38	HP:0007333	Hypoplasia of the frontal lobes
39	HP:0001252	Hypotonia
40	HP:0008064	Ichthyosis
41	HP:0001249	Intellectual disability
42	HP:0000369	Low-set ears
43	HP:0000347	Micrognathia
44	HP:0001003	Multiple lentigines
45	HP:0006114	Multiple palmar creases
46	HP:0008113	Multiple plantar creases
47	HP:0000545	Myopia
48	HP:0000341	Narrow forehead
49	HP:0000639	Nystagmus
50	HP:0000657	Oculomotor apraxia
51	HP:0010807	Open bite
52	HP:0000194	Open mouth
53	HP:0001093	Optic nerve dysplasia
54	HP:0000938	Osteopenia
55	HP:0000768	Pectus carinatum
56	HP:0000767	Pectus excavatum
57	HP:0003477	Peripheral axonal neuropathy	HP:0040283
58	HP:0001561	Polyhydramnios
59	HP:0000358	Posteriorly rotated ears
60	HP:0001622	Premature birth
61	HP:0000529	Progressive visual loss
62	HP:0011220	Prominent forehead
63	HP:0000520	Proptosis
64	HP:0000508	Ptosis
65	HP:0001642	Pulmonic stenosis
66	HP:0004482	Relative macrocephaly
67	HP:0001250	Seizure
68	HP:0003196	Short nose
69	HP:0004322	Short stature
70	HP:0002217	Slow-growing hair
71	HP:0008070	Sparse hair
72	HP:0001744	Splenomegaly
73	HP:0000486	Strabismus
74	HP:0000176	Submucous cleft hard palate
75	HP:0100703	Tongue thrusting
76	HP:0009891	Underdeveloped supraorbital ridges
77	HP:0002013	Vomiting

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_004333.4(BRAF):c.1914T>A (p.Asp638Glu)	673	BRAF	Pathogenic	180177042	RCV000015015; RCV000033337;	N	MedGen:CN029449,OMIM:115150; MedGen:CN221809	7	140449165	140449165	NM_004333.4:c.1914T>A	NP_004324.2:p.Asp638Glu	NC_000007.13:g.140449165A>C,NC_000007.13:g.140449165A>T	OMIM Allelic Variant:164757.0021	CN029449 115150 Cardiofaciocutaneous syndrome 1; CN221809 not provided
NM_004333.4(BRAF):c.1783T>C (p.Phe595Leu)	673	BRAF	Pathogenic	794729219	RCV000184039;	N	MedGen:CN029449,OMIM:115150	7	140453152	140453152	NM_004333.4:c.1783T>C	NP_004324.2:p.Phe595Leu	NC_000007.13:g.140453152A>G	-	CN029449 115150 Cardiofaciocutaneous syndrome 1
NM_004333.4(BRAF):c.1741A>G (p.Asn581Asp)	673	BRAF	Pathogenic	180177040	RCV000015013; RCV000033329; RCV000211751;	N	MedGen:C1275081, Orphanet:ORPHA1340,SNOMED CT:403770008; MedGen:CN029449,OMIM:115150; MedGen:CN221809	7	140453987	140453987	NM_004333.4:c.1741A>G	NP_004324.2:p.Asn581Asp	NC_000007.13:g.140453987T>C,NC_000007.13:g.140453987T>G	OMIM Allelic Variant:164757.0019	C1275081 Cardiofaciocutaneous syndrome; CN029449 115150 Cardiofaciocutaneous syndrome 1; CN221809 not provided
NM_004333.4(BRAF):c.1600G>C (p.Gly534Arg)	673	BRAF	Pathogenic	180177041	RCV000015014; RCV000208775;	N	MedGen:C1275081, Orphanet:ORPHA1340,SNOMED CT:403770008; MedGen:CN029449,OMIM:115150	7	140476806	140476806	NM_004333.4:c.1600G>C	NP_004324.2:p.Gly534Arg	NC_000007.13:g.140476806C>G	OMIM Allelic Variant:164757.0020	C1275081 Cardiofaciocutaneous syndrome; CN029449 115150 Cardiofaciocutaneous syndrome 1
NM_004333.4(BRAF):c.1502A>G (p.Glu501Gly)	673	BRAF	Pathogenic	180177039	RCV000015012; RCV000207518; RCV000211750;	N	MedGen:C1275081, Orphanet:ORPHA1340,SNOMED CT:403770008; MedGen:CN029449,OMIM:115150; MedGen:CN221809	7	140477806	140477806	NM_004333.4:c.1502A>G	NP_004324.2:p.Glu501Gly	NC_000007.13:g.140477806T>A,NC_000007.13:g.140477806T>C,NC_000007.13:g.140477806	OMIM Allelic Variant:164757.0018	C1275081 Cardiofaciocutaneous syndrome; CN029449 115150 Cardiofaciocutaneous syndrome 1; CN221809 not provided
NM_004333.4(BRAF):c.1501G>A (p.Glu501Lys)	673	BRAF	Likely pathogenic;Pathogenic	180177038	RCV000015011; RCV000033315; RCV000207513;	N	MedGen:CN029449,OMIM:115150; MedGen:CN166718; MedGen:CN221809	7	140477807	140477807	NM_004333.4:c.1501G>A	NP_004324.2:p.Glu501Lys	NC_000007.13:g.140477807C>G,NC_000007.13:g.140477807C>T	OMIM Allelic Variant:164757.0017	CN029449 115150 Cardiofaciocutaneous syndrome 1; CN221809 not provided; CN166718 Rasopathy
NM_004333.4(BRAF):c.1495A>G (p.Lys499Glu)	673	BRAF	Likely pathogenic;Pathogenic	180177037	RCV000015010; RCV000207517;	N	MedGen:CN029449,OMIM:115150; MedGen:CN221809	7	140477813	140477813	NM_004333.4:c.1495A>G	NP_004324.2:p.Lys499Glu	NC_000007.13:g.140477813T>C	OMIM Allelic Variant:164757.0016	CN029449 115150 Cardiofaciocutaneous syndrome 1; CN221809 not provided
NM_004333.4(BRAF):c.1455G>C (p.Leu485Phe)	673	BRAF	Pathogenic	180177036	RCV000015009; RCV000211749; RCV000208764;	N	MedGen:C1275081, Orphanet:ORPHA1340,SNOMED CT:403770008; MedGen:CN029449,OMIM:115150; MedGen:CN166718	7	140477853	140477853	NM_004333.4:c.1455G>C	NP_004324.2:p.Leu485Phe	NC_000007.13:g.140477853C>A,NC_000007.13:g.140477853C>G	OMIM Allelic Variant:164757.0015	C1275081 Cardiofaciocutaneous syndrome; CN029449 115150 Cardiofaciocutaneous syndrome 1; CN166718 Rasopathy
NM_004333.4(BRAF):c.1406G>A (p.Gly469Glu)	673	BRAF	Pathogenic	121913355	RCV000015008; RCV000033307; RCV000212152; RCV000211748;	N	MedGen:C1275081, Orphanet:ORPHA1340,SNOMED CT:403770008; MedGen:CN029449,OMIM:115150; MedGen:CN166718; MedGen:CN221809	7	140481402	140481402	NM_004333.4:c.1406G>A	NP_004324.2:p.Gly469Glu	NC_000007.13:g.140481402C>A,NC_000007.13:g.140481402C>G,NC_000007.13:g.140481402	OMIM Allelic Variant:164757.0014	C1275081 Cardiofaciocutaneous syndrome; CN029449 115150 Cardiofaciocutaneous syndrome 1; CN221809 not provided; CN166718 Rasopathy
NM_004333.4(BRAF):c.770A>G (p.Gln257Arg)	673	BRAF	Pathogenic	180177035	RCV000015007; RCV000033289; RCV000080904; RCV000208766;	N	MedGen:C1275081, Orphanet:ORPHA1340,SNOMED CT:403770008; MedGen:CN029449,OMIM:115150; MedGen:CN166718; MedGen:CN221809	7	140501302	140501302	NM_004333.4:c.770A>G	NP_004324.2:p.Gln257Arg	NC_000007.13:g.140501302T>C	HGMD:CM060874,OMIM Allelic Variant:164757.0013	C1275081 Cardiofaciocutaneous syndrome; CN029449 115150 Cardiofaciocutaneous syndrome 1; CN221809 not provided; CN166718 Rasopathy
NM_004333.4(BRAF):c.736G>C (p.Ala246Pro)	673	BRAF	Pathogenic	180177034	RCV000014998; RCV000033285; RCV000208416;	N	MedGen:C1275081, Orphanet:ORPHA1340,SNOMED CT:403770008; MedGen:CN029449,OMIM:115150; MedGen:CN166718	7	140501336	140501336	NM_004333.4:c.736G>C	NP_004324.2:p.Ala246Pro	NC_000007.13:g.140501336C>G	OMIM Allelic Variant:164757.0012	C1275081 Cardiofaciocutaneous syndrome; CN029449 115150 Cardiofaciocutaneous syndrome 1; CN166718 Rasopathy
NM_004333.4(BRAF):c.721A>C (p.Thr241Pro)	673	BRAF	Likely pathogenic;Pathogenic	387906661	RCV000022680; RCV000055896; RCV000022681; RCV000033279; RCV000207516; RCV000211752;	N	MedGen:C0175704, Orphanet:ORPHA500; MedGen:C1275081, Orphanet:ORPHA1340,SNOMED CT:403770008; MedGen:C3150971,OMIM:613707; MedGen:CN029449,OMIM:115150; MedGen:CN166718; MedGen:CN221809	7	140501351	140501351	NM_004333.4:c.721A>C	NP_004324.2:p.Thr241Pro	NC_000007.13:g.140501351T>G	OMIM Allelic Variant:164757.0024	C1275081 Cardiofaciocutaneous syndrome; CN029449 115150 Cardiofaciocutaneous syndrome 1; C3150971 613707 LEOPARD syndrome 3; C0175704 Noonan syndrome with multiple lentigines; CN221809 not provided; CN166718 Rasopathy
NM_004985.4(KRAS):c.211T>G (p.Tyr71Asp)	3845	KRAS	Likely pathogenic	387907205	RCV000221667;	N	MedGen:CN029449,OMIM:115150	12	25380247	25380247	NM_004985.4:c.211T>G	NP_004976.2:p.Tyr71Asp		-	CN029449 115150 Cardiofaciocutaneous syndrome 1
NM_030662.3(MAP2K2):c.181A>G (p.Lys61Glu)	5605	MAP2K2	Likely pathogenic;Pathogenic	730880517	RCV000200295; RCV000158039;	N	MedGen:CN029449,OMIM:115150; MedGen:CN221809	19	4117539	4117539	NM_030662.3:c.181A>G	NP_109587.1:p.Lys61Glu	NC_000019.9:g.4117539T>C	-	CN029449 115150 Cardiofaciocutaneous syndrome 1; CN221809 not provided