MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Ectodermal Dysplasia (D004476)
Parent Node:
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Heart Defects, Congenital (D006330)
..Starting node
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CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)

       Child Nodes:



 Sister Nodes: 
..expand22q11 Deletion Syndrome (D058165) Child5
..expandAarskog Syndrome (C535331) Child1
..expandAl Gazali Aziz Salem syndrome (C535613)
..expandAlagille Syndrome (D016738)
..expandAmastia, Bilateral, With Ureteral Triplication And Dysmorphism (C566295)
..expandAortic Coarctation (D001017) Child3
..expandAortic Valve Disease 1 (C563178) Child1
..expandAplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts (C566997)
..expandArrhythmogenic Right Ventricular Dysplasia (D019571) Child13
..expandArterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..expandBaetz-Greenwalt syndrome (C537795)
..expandBarth Syndrome (D056889) Child2  LSDB  L: 00399;
..expandBEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..expandBeemer Ertbruggen syndrome (C537668)
..expandBixler Christian Gorlin syndrome (C537632)
..expandBlepharophimosis syndrome Ohdo type (C536232)
..expandBonneau Syndrome (C564875)
..expandBurn-Mckeown syndrome (C537411)
..expandCardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
..expandCardiac Valvular Defect, Developmental (C565882)
..expandCardiac valvular dysplasia, X-linked (C535576)
..expandCardioauditory syndrome of Sanchez Cascos (C535577)
..expandCardiocranial syndrome (C535578)
..expandCardiofaciocutaneous syndrome (C535579)
..expandChromosome 1q21.1 Duplication Syndrome (C567290)
..expandChromosome 6pter-P24 Deletion Syndrome (C567239)
..expandCleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..expandCONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
..expandCONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
..expandCONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 (OMIM:614980)
..expandCONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 (OMIM:615779)
..expandCongenital Heart Defects, X-Linked (C567444)
..expandConotruncal cardiac defects (C535464) Child1
..expandCor Triatriatum (D003310)
..expandCoronary Vessel Anomalies (D003330) Child3
..expandCorpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..expandCranioacrofacial Syndrome (C565147)
..expandCraniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..expandCraniofaciofrontodigital Syndrome (C567298)
..expandCrisscross Heart (D003420)
..expandDeafness, Congenital Heart Defects, and Posterior Embryotoxon (C566604)
..expandDextrocardia (D003914) Child10
..expandDistichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature (C565092)
..expandDuctus Arteriosus, Patent (D004374) Child6
..expandEbstein Anomaly (D004437)
..expandEctopia Cordis (D054083)
..expandEctrodactyly cardiopathy dysmorphism (C536187)
..expandEctrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia (C563344)
..expandEisenmenger Complex (D004541)
..expandEllis Yale Winter syndrome (C536205)
..expandEmanuel syndrome (C535733)
..expandFaciocardiomelic Dysplasia, Lethal (C565578)
..expandFaciocardiomelic Syndrome (C567176)
..expandFaciocardiorenal syndrome (C536388)
..expandFamilial anomalous origin of right pulmonary artery (C535681)
..expandFragile Site 16p12 (C565001)
..expandFrontoocular Syndrome (C565340)
..expandGay Feinmesser Cohen syndrome (C537676)
..expandGenito palato cardiac syndrome (C537683)
..expandGrowth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia (C565755)
..expandHeart defects limb shortening (C535850)
..expandHEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
..expandHeart Septal Defects (D006343) Child47
..expandHeart-hand syndrome, Slovenian type (C535852)
..expandHeart-hand syndrome, Spanish type (C535853)
..expandHecht Scott syndrome (C535856)
..expandHeterotaxy Syndrome (D059446) Child7
..expandHirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..expandHirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction (C563939)
..expandHittner Hirsch Kreh syndrome (C538323)
..expandHo Kaufman Mcalister syndrome (C538325)
..expandHolt-Oram syndrome (C535326)
..expandHolzgreve Wagner Rehder syndrome (C535327)
..expandHydrolethalus syndrome (C536079)
..expandHypoplastic Left Heart Syndrome (D018636)
..expandIsolated Noncompaction of the Ventricular Myocardium (D056830) Child5
..expandKasznica Carlson Coppedge syndrome (C537011)
..expandKleefstra Syndrome (C563043)
..expandLEOPARD Syndrome (D044542) Child2
..expandLevocardia (D007979)
..expandLong QT Syndrome (D008133) Child20
..expandLowry Maclean syndrome (C537037)
..expandMalpuech facial clefting syndrome (C535704)
..expandMarcus Gunn phenomenon (C535908)
..expandMarfan Syndrome (D008382) Child9
..expandMcDonough syndrome (C538158)
..expandMcKusick Kaufman syndrome (C538159)
..expandMcPherson Clemens syndrome (C538160)
..expandMehta Lewis Patton syndrome (C536147)
..expandMENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
..expandMexican Cardiomelic Dysplasia (C563087)
..expandMicrocephaly seizures mental retardation heart disorders (C537544)
..expandMicrocephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..expandMULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
..expandNEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
..expandNoncompaction of Left Ventricular Myocardium with Congenital Heart Defects (C564690)
..expandNoonan Syndrome (D009634) Child12
..expandOrstavik Lindemann Solberg syndrome (C537137)
..expandPancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease (C564011)
..expandPilotto syndrome (C537400)
..expandPowell Chandra Saal syndrome (C538357)
..expandPseudodiastrophic dysplasia (C535826)
..expandPulmonary Atresia with Intact Ventricular Septum (C562832)
..expandRight ventricle hypoplasia (C535682)
..expandRommen Mueller Sybert syndrome (C535871)
..expandSaal Bulas syndrome (C537193)
..expandSacral meningocele conotruncal heart defects (C537223)
..expandScimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities (C564262)
..expandShort QT Syndrome 1 (C566506)
..expandShort QT Syndrome 2 (C566505)
..expandShort QT Syndrome 3 (C566504)
..expandSimpson-Golabi-Behmel syndrome (C537340)
..expandSonoda syndrome (C536680)
..expandSteinfeld Syndrome (C566655)
..expandStratton-Parker Syndrome (C566105)
..expandSubaortic Stenosis, Membranous (C564793)
..expandT-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
..expandTabatznik syndrome (C536784)
..expandTamari Goodman syndrome (C536896)
..expandTARP syndrome (C536942)
..expandTer Haar syndrome (C537274)
..expandTESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE (OMIM:615542)
..expandTetralogy of Fallot (D013771) Child4
..expandThomas syndrome (C536514)
..expandTransposition of Great Vessels (D014188) Child5
..expandTricuspid Atresia (D018785) Child1
..expandTrilogy of Fallot (D014286)
..expandTrisomy 13 Syndrome (D000073839)
..expandTrisomy 18 Syndrome (D000073842)
..expandTurner Syndrome (D014424) Child2
..expandUhl anomaly (C536932)
..expandVACTERL association (C536495)
..expandVATER association (C536534)
..expandVater Association With Hydrocephalus (C564752)
..expandVater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency (C564244)
..expandVentricular extrasystoles perodactyly Robin sequence (C536537)
..expandVerloove-Vanhorick Brubakk syndrome (C536541)
..expandWolff-Parkinson-White Syndrome (D014927)
..expandYoung Simpson syndrome (C536717)
..expandZunich neuroectodermal syndrome (C536729)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:2938
Name:CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
Definition:
Alternative IDs:
ParentIDs:MESH:D004476|MESH:D006330
TreeNumbers:C14.240.400/617364 |C14.280.400/617364 |C16.131.077.350/617364 |C16.131.240.400/617364 |C16.131.831.350/617364 |C16.320.850.250/617364 |C17.800.804.350/617364 |C17.800.827.250/617364
Synonyms:CHDED
Slim Mappings:Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Skin disease
Reference: MedGen: 617364
MeSH: 617364
OMIM: 617364;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0011304Broad thumb
3 HP:0000750Delayed speech and language development
NAMDC:  Delayed language
4 HP:0005280Depressed nasal bridge
5 HP:0000958Dry skin
6 HP:0011968Feeding difficulties
7 HP:0001808Fragile nails
8 HP:0001290Generalized hypotonia
9 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
10 HP:0001263Global developmental delay
NAMDC:  Mental retardation
11 HP:0000252Microcephaly
12 HP:0000691Microdontia
13 HP:0000639Nystagmus
14 HP:0006323Premature loss of primary teeth
15 HP:0011220Prominent forehead
16 HP:0000426Prominent nasal bridge
17 HP:0002650Scoliosis
18 HP:0002209Sparse scalp hair
19 HP:0001159Syndactyly
20 HP:0000963Thin skin
21 HP:0000687Widely spaced teeth
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_002742.3(PRKD1):c.1774G>A (p.Gly592Arg)5587PRKD1Pathogenicrs1057519635RCV000417214; NMONDO:MONDO:0044303,MedGen:C4479250,OMIM:617364143009571430095714CT14:g.30095714C>TClinGen:CA16044435,OMIM:605435.0002
NM_002742.3(PRKD1):c.1456G>A (p.Gly486Arg)5587PRKD1Uncertain significance-1RCV001198618; NMONDO:MONDO:0044303,MedGen:C4479250,OMIM:617364143010016430100164CT14:g.30100164C>T-
NM_002742.3(PRKD1):c.1316G>A (p.Arg439Gln)5587PRKD1Likely pathogenicrs1439477100RCV000989200; NMONDO:MONDO:0044303,MedGen:C4479250,OMIM:617364143010215130102151CT14:g.30102151C>T-
NM_002742.3(PRKD1):c.896T>G (p.Leu299Trp)5587PRKD1Pathogenicrs1057519636RCV000417210; NMONDO:MONDO:0044303,MedGen:C4479250,OMIM:617364143010791130107911AC14:g.30107911A>CClinGen:CA16044436,OMIM:605435.0003
NM_002742.3(PRKD1):c.496A>G (p.Met166Val)5587PRKD1Uncertain significance-1RCV001262271; NMONDO:MONDO:0044303,MedGen:C4479250,OMIM:617364143013532230135322TC14:g.30135322T>C-
MSeqDR Portal