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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: Endocardial Fibroelastosis (D004695)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Heart Defects, Congenital (D006330)
..Starting node ..Isolated Noncompaction of the Ventricular Myocardium (D056830)
Child Nodes:
........Cardiomyopathy, Dilated, with Left Ventricular Noncompaction (C565277)
........LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
........LEFT VENTRICULAR NONCOMPACTION 2 (OMIM:609470)
........Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1 (C565821)
........Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 2 (C563712)
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:	5932
Name:	Isolated Noncompaction of the Ventricular Myocardium
Definition:	Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen.
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D004695\|MESH:D006330\|MESH:D040181
TreeNumbers:	C14.240.400.660 \|C14.280.238.281.500 \|C14.280.400.660 \|C16.131.077.477 \|C16.131.240.400.655 \|C16.320.322.370
Synonyms:	Isolated Noncompaction of the Left Ventricular Myocardium, X-Linked \|Isolated Non-compaction of the Ventricular Myocardium \|Noncompaction of the Left Ventricular Myocardium, Autosomal Dominant
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Genetic disease (inborn)
Reference:	MedGen: D056830 MeSH: D056830 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants