Gene Summary

Name:
NADH:ubiquinone oxidoreductase core subunit S6
Synonyms:
IP13

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Ndufs6em1(IMPC)Bay HOM   Early adult 0.00
prenatal lethality Ndufs6em1(IMPC)Bay HOM   E18.5 0.00

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Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

VIP of right eye

16 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of left fundus

16 Images

Eye Morphology

VIP of right fundus

16 Images

Human diseases caused by Ndufs6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ndufs6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Isolated Complex I Deficiency
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Hepatomegaly, Failure... ORPHA:2609
Mitochondrial Complex I Deficiency, Nuclear Type 9
OMIM:618232

The table below shows human diseases predicted to be associated to Ndufs6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis ORPHA:111
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology, F... OMIM:618378
Barth Syndrome
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Endocardial fibroelastosis, Hypertr... OMIM:302060
Ethanolaminosis
Cardiomegaly OMIM:227150
Loeffler Endocarditis
T-wave inversion, Abnormal cardiomyocyte morphology, Right bundle branch block, Endocardial fibro... ORPHA:75566
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Hypertrophic cardiomyopathy, Abnormality of the mitochondrion, Low-output cong... ORPHA:91130
Attrv30M Amyloidosis
Arrhythmia, Impotence, Cardiomyopathy, Atrioventricular block, Cardiomegaly, Weight loss ORPHA:85447
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Cardiomyopathy, Hepatomegaly OMIM:609016
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Coronary Arterial Fistula
Right ventricular dilatation, Continuous heart murmur, Elevated jugular venous pressure, Patent f... ORPHA:2041
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly, Decrea... OMIM:619064
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Elevated jugular venous pressure, Abnormal cardiovascular system ph... ORPHA:422
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Ca... ORPHA:860
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Decreased plas... OMIM:212140
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Aortic regurgitation, Systolic heart murmur, Congestive heart fai... ORPHA:3092
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure OMIM:618654
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Hepatomegaly, Right bundle... OMIM:115197
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation, Ventricular tachycardia, Premature ventricular contraction, Left bu... OMIM:618920
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Arrhythmia ORPHA:352447
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Hypertrophic cardiomyopathy OMIM:610773
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Angina pectoris, Abnormal EKG, C... ORPHA:85451
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Familial Atrial Myxoma
Cardiac myxoma, Congestive heart failure, Bacterial endocarditis, Heart murmur, Pulmonic valve my... ORPHA:615
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Arrhythmia, Congestive heart failure, Azoospermia, Amenorrhea, Tel... OMIM:235200
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology, Hepatomegaly OMIM:618528
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Hypertension,... ORPHA:563
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly OMIM:617713
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Infantile Sialic Acid Storage Disease
Congestive heart failure, Splenomegaly, Hepatomegaly, Failure to thrive, Cardiomegaly OMIM:269920
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Decreased activity of the pyruvate dehydrogenase complex, Ventricular septal defect OMIM:616277
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, My... ORPHA:3287
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Systolic heart murmur, Congestive heart failure, ... ORPHA:439
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Decreased activity of mitochondrial compl... OMIM:619170
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Prolonged QT interval, Ventricular septal defect, Brad... OMIM:601005
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Slender build ORPHA:352470
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, ... OMIM:300257
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopat... OMIM:615248
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Decreased activity of the pyruvate dehydrogenase complex, Failure to... ORPHA:255241
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Arrhythmia, Hepatomegaly, Cachexia, Cardiomegaly ORPHA:42
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Cirrhotic Cardiomyopathy
Right atrial enlargement, Left ventricular diastolic dysfunction, Elevated jugular venous pressur... ORPHA:57777
Salih Myopathy
Dilated cardiomyopathy, Mitochondrial depletion, Arrhythmia OMIM:611705
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Transient hyperlipidemia, Hepatomegaly, Arrhythmia OMIM:255120
Myofibrillar Myopathy 10
Increased QRS voltage, Left ventricular hypertrophy, Percussion myotonia, Prolonged QTc interval OMIM:619040
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Ventricular tachycardia, Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:600649
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Syst... ORPHA:555874
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Hypogonadotropic hypogonadism, Portal hypertension, Elevated jugular venous pressure... ORPHA:465508
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:266500
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Hypertension, Abnormality of mitochondrial metabolism ORPHA:1192
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Cardiomegaly, Tricuspid re... OMIM:618652
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Polyarteritis Nodosa
Cardiomyopathy, Hypertension, Pericarditis, Raynaud phenomenon, Weight loss ORPHA:767
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Ventricular hypertrophy, Cardiomega... OMIM:619051
Pulmonary Blastoma
Weight loss ORPHA:64741
Mulibrey Nanism
Pericardial constriction, Congestive heart failure, Hepatomegaly, Cardiomegaly, Myocardial fibrosis OMIM:253250
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Hypertrophic cardiomyopathy, Sudden cardiac death, Hepatomegaly, Decre... OMIM:201475
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Congestive heart failure, Mitral valv... ORPHA:324410
Isolated Succinate-Coq Reductase Deficiency
Abnormal left ventricular function, Abnormal atrioventricular conduction, Hypertrophic cardiomyop... ORPHA:3208
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Congestive heart failure, Pulmonary arterial hypertension, Hyp... ORPHA:1457
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Hypercalcemia, Infantile, 1
Failure to thrive, Aortic valve stenosis, Weight loss, Pulmonic stenosis OMIM:143880
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly, Failure to thrive in infancy ORPHA:858
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Weight loss, Hepatomegaly ORPHA:2198
Polymyositis
Dilated cardiomyopathy, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Abnorm... ORPHA:732
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Congestive heart failure, Abnormal echocardiogram, Abnor... OMIM:229300
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Pleural Mesothelioma
Weight loss, Abnormal cardiovascular system physiology, Hepatomegaly ORPHA:50251
Neuroendocrine Tumor Of The Colon
Hypotension, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Melena, Right ventricular fa... ORPHA:100080
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Cardiomy... OMIM:261740
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Amyloidosis, Hereditary, Transthyretin-Related
Impotence, Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy OMIM:105210
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Right ventricular dilatation, Unroofed coronary sinus, Systolic heart m... ORPHA:99104
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Cardiomegaly, Hypertension, Small for gestational age OMIM:613320
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Diffuse alveolar hemorrhage, Hepatomegaly, Failure to thrive, Heart murmur, C... ORPHA:99931
Bronchial Neuroendocrine Tumor
Cardiogenic shock, Hypotension, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Right ven... ORPHA:97287
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins... OMIM:619705
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive, Weight loss ORPHA:1842
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy, Abnormality of mitochondrial metabolism ORPHA:391428
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Shortened PR interval, Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive, Heart murmur... ORPHA:308552
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Neuraminidase Deficiency
Cardiomegaly, Cardiomyopathy, Hepatomegaly, Splenomegaly OMIM:256550
Tuberculosis
Weight loss ORPHA:3389
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Melena, Right ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Melena, Right ... ORPHA:100082
Galactose Epimerase Deficiency
Weight loss, Splenomegaly, Hepatomegaly ORPHA:79238
Familial Aortic Dissection
Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function ORPHA:229
Yao Syndrome
Ventricular hypertrophy, Weight loss, Pericarditis OMIM:617321
Craniofaciofrontodigital Syndrome
Large for gestational age, Abnormal heart valve morphology, Gastrointestinal hemorrhage, Arrhythm... ORPHA:363705
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Hypertension OMIM:618886
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Splenomegaly, Hepatomegaly ORPHA:86893
Cantu Syndrome
Large for gestational age, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardi... OMIM:239850
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hyperlipidemia, Decreased plasma total carnitine, Arrhythmia, Hep... ORPHA:228308
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Right ventricular hypertrophy OMIM:253700
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Arrhythmia, Congestive heart failure ORPHA:157973
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Gastrointestinal hemorrhage, Arrhythmia, Weight loss,... ORPHA:85443
Friedreich Ataxia 2
Muscular subvalvular aortic stenosis, Decreased pyruvate carboxylase activity, Congestive heart f... OMIM:601992
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Abnormal EKG, Right bundle branch block, Right ventricular hypertrophy... ORPHA:268
Friedreich Ataxia And Congenital Glaucoma
Muscular subvalvular aortic stenosis, Decreased pyruvate carboxylase activity, Congestive heart f... OMIM:229310
Malignant Atrophic Papulosis
Abnormal myocardium morphology, Gastrointestinal hemorrhage, Abnormal pericardium morphology, Myo... ORPHA:679
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Decreased activity of mitochondrial complex I, Patent foramen ovale, Hypertrophic cardiomyopathy,... ORPHA:17
Idiopathic Achalasia
Weight loss ORPHA:930
Hodgkin Lymphoma
Weight loss, Splenomegaly, Hepatomegaly ORPHA:98293
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Obesity, Sudden cardiac death, Myotonia, Atrioventricular block, Hypertri... ORPHA:98855
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency, Failure to thrive, Mitochondrial hypertrophy OMIM:619518
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Sickle Cell Anemia
Priapism, Splenomegaly, Hepatomegaly, Hypertension, Cardiomegaly OMIM:603903
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the upper limb, Cold-sensitive myotonia, Paradoxical myotonia, Myotonia of the jaw, M... ORPHA:684
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular septal defect, Small for gestational age OMIM:616897
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level OMIM:618838
Systemic Capillary Leak Syndrome
Arrhythmia, Hypotension, Myocarditis, Pericarditis, Weight loss ORPHA:188
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Sudden cardiac death, Obesity, Myotonia, Atr... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Sudden cardiac death, Obesity, Myotonia, Atr... ORPHA:98853
Congenital Aortic Valve Stenosis
Abnormal T-wave, Aortic valve atresia, Reduced ejection fraction, Endocardial fibroelastosis, Dys... ORPHA:3093
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Congestive heart failure OMIM:619259
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomegaly, Aortic val... OMIM:231005
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Abnormal pericardium morphology, Congestive heart failure, H... ORPHA:183
Neuroendocrine Tumor Of Stomach
Cardiogenic shock, Hypotension, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Hematemes... ORPHA:100075
Glycogen Storage Disease Ii
Shortened PR interval, Wolff-Parkinson-White syndrome, Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:232300
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertrophic cardiomyopathy, Sudden cardiac death, Obesity, Myotonia, Atrioventricular block, Hyp... ORPHA:98863
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Delayed menarche, Abnormality of the mitochondrion ORPHA:330050
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy ORPHA:158687
Reticular Dysgenesis
Failure to thrive, Weight loss, Abnormality of mitochondrial metabolism ORPHA:33355
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex III, D... OMIM:500013
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Portal hypertension, Hepatomegaly, Failure to thrive, Hypertension, Increased... OMIM:619487
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Hypertrophic cardiomyopathy, Obesity, Hypopla... ORPHA:251071
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial flutter, Patent foramen ovale, Reduced ejection fraction, Congestive ... ORPHA:980
Mu-Heavy Chain Disease
Weight loss, Splenomegaly, Hepatomegaly ORPHA:100024
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Atrial septal defect, Dysplastic tricuspid valve, Persistent fetal ... OMIM:612863
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... ORPHA:137675
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Failure to thrive, Tetralogy of Fallot, Abnormality of mitochondrial metabolism ORPHA:88639
Familial Glucocorticoid Deficiency
Azoospermia, Decreased circulating cortisol level, Hypertrophic cardiomyopathy, Hypotension, Fail... ORPHA:361
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Weight loss, Abnormal pericardium morphology, Congestive heart failure ORPHA:67
Huntington Disease-Like 2
Weight loss ORPHA:98934
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Abnormal T-wave, Right ventricular dilatation, Abnormal left ventricula... ORPHA:70591
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... ORPHA:94080
Polycythemia Vera
Portal hypertension, Gastrointestinal hemorrhage, Pulmonary embolism, Splenomegaly, Hepatomegaly,... ORPHA:729
Sandhoff Disease
Orthostatic hypotension, Hepatosplenomegaly, Hepatomegaly, Impotence, Cardiomegaly OMIM:268800
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Weight loss, Cachexia, Slender build OMIM:613662
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Congestive heart failure, Myocardial infarction, Abnormal heart morp... ORPHA:91139
Graves Disease, Susceptibility To, 1
Weight loss, Congestive heart failure OMIM:275000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Decreased plasma total carnitine, Arrhythmia, Hepatomega... OMIM:608836
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Sudden cardiac death, Hepatomegaly, Pulmonary arterial hypertension, Vent... OMIM:614921
Ileal Neuroendocrine Tumor
Arrhythmia, Cardiogenic shock, Tricuspid stenosis, Hypotension, Pulmonic stenosis, Palpitations, ... ORPHA:100078
Jejunal Neuroendocrine Tumor
Arrhythmia, Cardiogenic shock, Tricuspid stenosis, Hypotension, Pulmonic stenosis, Palpitations, ... ORPHA:100077
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Gm1 Gangliosidosis
Hepatosplenomegaly, Congestive heart failure, Splenomegaly, Abnormal heart morphology, Failure to... ORPHA:354
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Mast Cell Sarcoma
Weight loss, Splenomegaly, Hepatomegaly ORPHA:66661
Rhabdoid Tumor
Hypertension, Weight loss, Internal hemorrhage ORPHA:69077
Pfapa Syndrome
Weight loss, Splenomegaly, Hepatomegaly ORPHA:42642
Riboflavin Transporter Deficiency
Hypogonadism, Hypertension, Cachexia ORPHA:97229
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Muscular subvalvular aortic stenosis, Decreased pyruvate carboxylase activity, Congestive heart f... OMIM:302900
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Atrial septal defect, Azoospermia, Splenomegaly, Hepatomegaly, Pulmonic steno... OMIM:602782
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Hepatosplenomegaly, Patent foramen ovale, Aortic regu... ORPHA:576
Myotonia Congenita, Autosomal Dominant
Myotonia, Percussion myotonia, EMG: myotonic runs, Handgrip myotonia, Myotonia with warm-up pheno... OMIM:160800
Whipple Disease
Gastrointestinal hemorrhage, Erectile dysfunction, Splenomegaly, Myocarditis, Hepatomegaly, Hypot... ORPHA:3452
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Cachexia, Hypergonadotropic hypogonadism, Abnormality of the mitoc... ORPHA:298
Cantú Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology ORPHA:1517
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal cardiac septum morphology ORPHA:93941
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormal heart morphology, Failure to thrive, Abnormality of the mitochondrion, Hepatomegaly OMIM:214110
Familial Thrombocytosis
Splenomegaly, Miscarriage, Pulmonary arterial hypertension, Transient ischemic attack, Cerebral i... ORPHA:71493
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Small for gestational age, Arrhythmia, Abnormality of mitochondrial metabolism, Hypertrophic card... OMIM:614052
Myotonic Dystrophy 2
Myotonia, Oligospermia, Palpitations, Tachycardia, Hypogonadism OMIM:602668
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Follicular Lymphoma
Splenomegaly, Weight loss ORPHA:545
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Fucosidosis
Cardiomegaly, Failure to thrive, Hepatomegaly ORPHA:349
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepato... OMIM:252500
Felty Syndrome
Weight loss, Splenomegaly, Hepatomegaly, Pericarditis ORPHA:47612
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Q Fever
Abnormal heart valve morphology, Hepatosplenomegaly, Abnormal left ventricular function, Weight l... ORPHA:781
Tsh-Secreting Pituitary Adenoma
Decreased fertility in females, Infertility, Irregular menstruation, Female hypogonadism, Decreas... ORPHA:91347
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Gastrointestinal hemorrhage, Congestive heart failure, Hepatomegaly, Oligospe... ORPHA:85450
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Intracranial hemorrhage, Splenomegaly, Hepatomegaly ORPHA:3226
Myotonic Dystrophy 1
Atrial flutter, First degree atrioventricular block, Myotonia, Testicular atrophy, Atrial fibrill... OMIM:160900
Adrenocortical Carcinoma
Abnormality of reproductive system physiology, Weight loss, Elevated serum 11-deoxycortisol, Hype... ORPHA:1501
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Mucosal telangiectasiae, Arrhythmia, Bundle branch block, Telangiect... ORPHA:93672
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Weight loss ORPHA:1164
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypovolemia, Aortic regurgitation, Abnormal left ventricular function, Transient ischemic attack,... ORPHA:91387
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Chronic Hiccup
Weight loss ORPHA:396
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss, Pericardial effusion ORPHA:411703
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Reduced ejection fraction, Arrhythmia, Ventricular arrhythmia, Failure to... ORPHA:254892
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Failure to thrive in infancy, Arrhythmia, Glucocortocoid-insensitive primary h... ORPHA:171876
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Mucosal telangiectasiae, Eunuchoid habitus ORPHA:2463
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Abnormal pericardium morphology, Congestive heart failure, Abnorma... ORPHA:35687
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia, Weight loss OMIM:188580
Truncus Arteriosus
Truncus arteriosus, Tetralogy of Fallot, Abnormal heart valve morphology, Aortic regurgitation, A... ORPHA:3384
Isaacs Syndrome
Weight loss ORPHA:84142
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia, Weight loss OMIM:613239
Poems Syndrome
Erectile dysfunction, Visceromegaly, Pulmonary arterial hypertension, Hypogonadism, Weight loss, ... ORPHA:2905
Idiopathic Bronchiectasis
Myocardial infarction, Cachexia ORPHA:60033
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Cardiomegaly, Telangiectasia of the skin, Lip telangiectasia ORPHA:79280
Wilson Disease
Splenomegaly, Hepatomegaly, Failure to thrive, Increased body weight, Abnormality of the menstrua... ORPHA:905
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss, Myocarditis, Cardiac arrest ORPHA:139402
Immunodeficiency 27A
Hepatosplenomegaly, Splenomegaly, Weight loss OMIM:209950
Aggressive Systemic Mastocytosis
Portal hypertension, Hepatosplenomegaly, Gastrointestinal hemorrhage, Hypotension, Weight loss ORPHA:98850
Stevens-Johnson Syndrome
Abnormal myocardium morphology, Gastrointestinal hemorrhage, Sudden cardiac death, Myocardial inf... ORPHA:36426
Myotonia Congenita, Autosomal Recessive
EMG: myotonic runs, Myotonia with warm-up phenomenon, Percussion myotonia, Myotonia OMIM:255700
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Inflammatory Bowel Disease 11
Hematochezia, Weight loss OMIM:191390
Huntington Disease-Like 2
Weight loss OMIM:606438
Glycogen Storage Disease Due To Acid Maltase Deficiency
Shortened PR interval, Hypertrophic cardiomyopathy, Hepatomegaly, Transient ischemic attack, Fail... ORPHA:365
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Classic Hodgkin Lymphoma
Weight loss, Splenomegaly, Hepatomegaly ORPHA:391
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Failure to thrive, Abnormal mitochondrial shape ORPHA:543470
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepat... ORPHA:255210
Diencephalic Syndrome
Decreased body weight, Cachexia ORPHA:1672
Budd-Chiari Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Weight loss ORPHA:131
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Congenital Tracheomalacia
Tetralogy of Fallot, Atrial septal defect, Partial anomalous pulmonary venous return, Pulmonary a... ORPHA:95430
Isolated Permanent Neonatal Diabetes Mellitus
Hypovolemia, Abnormal heart morphology, Failure to thrive, Weight loss ORPHA:99885
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Weight loss OMIM:613673
Oculogastrointestinal Muscular Dystrophy
Abnormal mitral valve morphology, Cachexia ORPHA:1876
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Heart murmur, Palpitations, Right ventricular failure, Facial telangiectasia, Weigh... ORPHA:100085
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Familial Colorectal Cancer Type X
Cardiac diverticulum, Weight loss, Gastrointestinal hemorrhage ORPHA:440437
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Failure to thrive, Pulmonary venous hypertension, Raynaud phenomen... ORPHA:79128
Behçet Disease
Abnormal myocardium morphology, Gastrointestinal hemorrhage, Aortic regurgitation, Orchitis, Pulm... ORPHA:117
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Lynch Syndrome
Cardiac diverticulum, Weight loss, Gastrointestinal hemorrhage ORPHA:144
Gaucher Disease, Perinatal Lethal
Decreased body weight, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:608013
Leishmaniasis
Weight loss, Splenomegaly, Hepatomegaly ORPHA:507
Juvenile Huntington Disease
Weight loss ORPHA:248111
Huntington Disease
Abnormal libido, Weight loss, Decreased body mass index ORPHA:399
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Patent foramen ovale, Slender build, Atrial septal defect, Left v... OMIM:300967
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Dextrocardia, Double outlet right ventricle, H... ORPHA:99125
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Abetalipoproteinemia
Congestive heart failure, Hepatomegaly, Failure to thrive, Cardiomegaly, Hypocholesterolemia, Ste... ORPHA:14
Wolman Disease
Splenomegaly, Hepatomegaly, Cachexia, Steatorrhea ORPHA:75233
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... ORPHA:276621
Nephroblastoma
Hypertension, Weight loss ORPHA:654
19Q13.11 Microdeletion Syndrome
Failure to thrive, Ventricular septal defect, Cachexia ORPHA:217346
Hermansky-Pudlak Syndrome
Menometrorrhagia, Gastrointestinal hemorrhage, Cardiomyopathy, Weight loss, Epistaxis ORPHA:79430
Mogs-Cdg
Hepatosplenomegaly, Atrial septal defect, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy ORPHA:79330
Renal Nutcracker Syndrome
Infertility, Orthostatic hypotension, Dysmenorrhea, Syncope, Tachycardia, Dyspareunia, Weight loss ORPHA:71273
Primary Myelofibrosis
Hepatosplenomegaly, Portal hypertension, Splenomegaly, Hepatomegaly, Cachexia ORPHA:824
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Peritoneal Cystic Mesothelioma
Dyspareunia, Menorrhagia, Weight loss, Metrorrhagia ORPHA:168816
Fucosidosis
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:230000
Alveolar Echinococcosis
Weight loss, Portal hypertension, Abnormal pericardium morphology, Budd-Chiari syndrome ORPHA:284
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Multiple Mitochondrial Dysfunctions Syndrome 3
Abnormality of mitochondrial metabolism OMIM:615330
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Cardiac arrest, Hypotension, Hepatomegaly, Weight loss ORPHA:20
Cap Polyposis
Hematochezia, Weight loss ORPHA:160148
Glossopharyngeal Neuralgia
Syncope, Bradycardia, Jaw claudication, Weight loss ORPHA:221098
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Splenomegaly, Hepatomegaly, Syncope, Tachycardia, Weight loss ORPHA:98849
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Weight loss ORPHA:103910
Rheumatoid Arthritis
Vasculitis, Weight loss OMIM:180300
Cystic Echinococcosis
Abnormal heart morphology, Weight loss, Hepatomegaly ORPHA:400
Eosinophilic Gastroenteritis
Hematochezia, Weight loss, Steatorrhea ORPHA:2070
Majeed Syndrome
Splenomegaly, Hepatomegaly, Failure to thrive, Cachexia, Weight loss ORPHA:77297
Beta-Ketothiolase Deficiency
Weight loss, Hypotension, Hypertension, Hepatomegaly ORPHA:134
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Sialuria
Abnormality of the mitochondrion, Hepatosplenomegaly, Hepatomegaly ORPHA:3166
Desmoplastic Small Round Cell Tumor
Weight loss, Hepatomegaly, Cachexia ORPHA:83469
Bohring-Opitz Syndrome
Bradycardia, Cardiomegaly, Severe failure to thrive, Abnormal cardiac septum morphology ORPHA:97297
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Toxic Epidermal Necrolysis
Abnormal myocardium morphology, Sudden cardiac death, Gastrointestinal hemorrhage, Weight loss ORPHA:537
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Abnormal mitral valve morphology, Abnormal aortic valve mo... ORPHA:740
Mcdonough Syndrome
Cachexia ORPHA:2471
Lysosomal Acid Lipase Deficiency
Hypovolemia, Hepatosplenomegaly, Hypercholesterolemia, Hypotension, Pulmonary arterial hypertensi... ORPHA:275761
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Cronkhite-Canada Syndrome
Splenomegaly, Hepatomegaly, Cachexia ORPHA:2930
Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Gastrointestinal hemorrhage, Arrhythmia, Prostatitis, Vascul... ORPHA:900
Rat-Bite Fever
Endocarditis, Myocarditis, Weight loss, Pericarditis ORPHA:31205
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Juvenile Polyposis Of Infancy
Hematochezia, Gastrointestinal hemorrhage, Atrial septal defect, Abnormal heart morphology, Intes... ORPHA:79076
Castleman Disease
Restrictive cardiomyopathy, Weight loss ORPHA:160
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mitral regurgitation, Dilated cardiomyopathy, Mitral valve prolapse, Weight loss OMIM:607459
Postinfectious Vasculitis
Vasculitis in the skin, Orchitis, Bacterial endocarditis, Cerebral vasculitis, Cardiomyopathy, Hy... ORPHA:48435
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Hypertension, Weight loss OMIM:256700
Alg9-Cdg
Right ventricular dilatation, Enlarged kidney, Atrial septal defect, Hepatomegaly, Abnormal heart... ORPHA:79328
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Weight loss OMIM:605543
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Arrhythmia, Congestive heart failure, Splenomegaly, Hepatomegaly, Failure... OMIM:256040
Dermatomyositis
Sinus tachycardia, Arrhythmia, Myocarditis, Myocardial infarction, Telangiectasia of the skin, Pu... ORPHA:221
Brody Disease
Percussion myotonia, Myotonia OMIM:601003
Singleton-Merten Syndrome 1
Decreased body weight, Congestive heart failure, Subvalvular aortic stenosis, Mitral valve calcif... OMIM:182250
Mucopolysaccharidosis Type 3
Abnormal myocardium morphology, Reduced ejection fraction, Abnormal mitral valve morphology, Sple... ORPHA:581
Brucellosis
Weight loss, Small for gestational age, Orchitis, Splenomegaly, Myocarditis, Abnormal aortic valv... ORPHA:1304
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Hypertrophic cardiomyopathy, Weight loss OMIM:164310
Christianson Syndrome
Cachexia ORPHA:85278
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Left ventricular... OMIM:245600
Hirschsprung Disease
Weight loss, Failure to thrive in infancy ORPHA:388
Acute Adrenal Insufficiency
Hypovolemia, Orthostatic hypotension, Decreased female libido, Decreased circulating cortisol lev... ORPHA:95409
Huntington Disease-Like 1
Weight loss ORPHA:157941
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Hepatomegaly, Failure to thrive, Ventricular hypertrophy, Cardiomegaly OMIM:618278
Reactive Arthritis
Weight loss, Aortic regurgitation, Pericarditis ORPHA:29207
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Vasculitis, Weight loss ORPHA:324964
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Hepatomegaly, Mitral valve calcification, Right ventricu... ORPHA:60025
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... ORPHA:29072
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Decreased circulating cortisol level, Hypotension, Failure to thrive, Pr... ORPHA:199299
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Aredyld Syndrome
Splenomegaly, Hepatomegaly, Cachexia ORPHA:1133
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension, Weight loss ORPHA:90060
Hyperkalemic Periodic Paralysis
Myotonia, Arrhythmia, Congestive heart failure ORPHA:682
Beckwith-Wiedemann Syndrome
Enlarged kidney, Pancreatic hyperplasia, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:130650
Acute Promyelocytic Leukemia
Weight loss, Diffuse alveolar hemorrhage, Epistaxis, Metrorrhagia ORPHA:520
Ménétrier Disease
Weight loss, Gastrointestinal hemorrhage ORPHA:2494
African Trypanosomiasis
Abnormality of circulating cortisol level, Second degree atrioventricular block, Infertility, Hep... ORPHA:3385
Primary Intestinal Lymphangiectasia
Weight loss, Pericardial effusion ORPHA:90362
Renpenning Syndrome
Cachexia ORPHA:3242
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Nodular Non-Suppurative Panniculitis
Weight loss, Splenomegaly, Hepatomegaly ORPHA:33577
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Failure to thrive in infancy OMIM:616801
Manganese Poisoning
Impotence, Decreased female libido, Decreased male libido, Abnormality of mitochondrial metabolism ORPHA:306682
Rett Syndrome
Abnormal T-wave, Cachexia, Prolonged QTc interval OMIM:312750
Isolated Complex I Deficiency
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Hepatomegaly, Failure... ORPHA:2609
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Weight loss, Cachexia ORPHA:1979
Focal Myositis
Weight loss ORPHA:48918
Fanconi Anemia
Tetralogy of Fallot, Atrial septal defect, Azoospermia, Hypertrophic cardiomyopathy, Abnormal aor... ORPHA:84
Imerslund-Gräsbeck Syndrome
Tachycardia, Failure to thrive, Weight loss ORPHA:35858
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Percussion-induced rapid rolling muscle contractions, Handgrip myotonia, Myotonia ORPHA:324442
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Weight loss ORPHA:86884
Kaposi Sarcoma
Weight loss ORPHA:33276
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Hepatomegaly OMIM:251110
Caroli Disease
Weight loss, Portal hypertension, Splenomegaly, Hepatomegaly ORPHA:53035
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Igg4-Related Retroperitoneal Fibrosis
Retrograde ejaculation, Renovascular hypertension, Hypertension, Impotence, Large vessel vasculit... ORPHA:49041
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Hepatomegaly OMIM:251100
Normokalemic Periodic Paralysis
Myotonia OMIM:170600
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Thymic Carcinoma
Weight loss ORPHA:99868
Aicardi-Goutières Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Raynaud phenomenon ORPHA:51
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Myotonia OMIM:137200
Osteosarcoma
Weight loss ORPHA:668
Microsporidiosis
Prostatitis, Myocarditis, Cachexia, Endocarditis, Weight loss ORPHA:2552
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss, Steatorrhea ORPHA:95427
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Thomsen And Becker Disease
Myotonia ORPHA:614
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Myotonia ORPHA:391307
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormal mitral valve morphology, Cachexia ORPHA:1969
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatosplenomegaly, Azoospermia, Bacterial endocarditis, Splenomegaly, Spontaneous, recurrent epi... ORPHA:2072
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia ORPHA:371
Myopathy, X-Linked, With Excessive Autophagy
Myotonia OMIM:310440
Somatostatinoma
Gastrointestinal hemorrhage, Hepatomegaly, Weight loss, Increased circulating cortisol level, Ste... ORPHA:97283
Nocardiosis
Endocarditis, Abnormal heart valve morphology, Weight loss, Pericarditis ORPHA:31204
Camurati-Engelmann Disease
Slender build, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Cachexia, Hypogonadism ORPHA:1328
Ppoma
Gastrointestinal hemorrhage, Weight loss, Hepatomegaly, Increased circulating cortisol level ORPHA:97278
Myotonia With Skeletal Abnormalities And Mental Retardation
Myotonia OMIM:255710
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Failure to thrive, Hypertension, Cachexia OMIM:610965
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Weight loss, Cachexia, Slender build OMIM:603041
Infantile Krabbe Disease
Failure to thrive, Cachexia, Abnormal heart rate variability ORPHA:206436
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Primary Sclerosing Cholangitis
Spider hemangioma, Hepatosplenomegaly, Portal hypertension, Congestive heart failure, Splenomegal... ORPHA:171
Tetrasomy 12P
Cachexia ORPHA:884
Klatskin Tumor
Weight loss, Hepatomegaly ORPHA:99978
Acetazolamide-Responsive Myotonia
Myotonia ORPHA:99736
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Chronic Beryllium Disease
Weight loss ORPHA:133
Yunis-Varon Syndrome
Tetralogy of Fallot, Atrial septal defect, Pulmonary arterial hypertension, Severe failure to thr... ORPHA:3472
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Failure to thrive, Hepatomegaly, Abnormality of mitochondrial metabolism OMIM:203700
Celiac Disease, Susceptibility To, 1
Failure to thrive, Infertility, Weight loss, Steatorrhea OMIM:212750
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Prolonged PR interval, Myotonia of... ORPHA:273
Congenital Tufting Enteropathy
Failure to thrive, Weight loss, Steatorrhea ORPHA:92050
Congenital Fiber-Type Disproportion Myopathy
Abnormal heart morphology, Failure to thrive, Cor pulmonale, Weight loss ORPHA:2020
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Weak pulse, Myocardial calcification, Retinal hemorrhage, ... ORPHA:51608
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypovolemia, Decreased fertility, Hypogonadotropic hypogonadism, Decreased circulating cortisol l... ORPHA:90794
Bullous Pemphigoid
Weight loss ORPHA:703
Addison Disease
Orthostatic hypotension, Decreased female libido, Decreased circulating cortisol level, Hypotensi... ORPHA:85138
Carney-Stratakis Syndrome
Weight loss, Gastrointestinal hemorrhage ORPHA:97286
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Ventricular fibrillation, Shortened PR interval, Obesity, P... ORPHA:79102
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Williams Syndrome
Failure to thrive in infancy, Hypertension, Ventricular septal defect, Mitral regurgitation, Card... ORPHA:904
Kikuchi-Fujimoto Disease
Vasculitis in the skin, Myocarditis, Hepatomegaly, Splenomegaly, Vasculitis, Weight loss ORPHA:50918
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Beckwith-Wiedemann Syndrome
Large for gestational age, Enlarged kidney, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomega... ORPHA:116
Thymic Neuroendocrine Tumor
Weight loss, Increased circulating cortisol level ORPHA:97289
Glucagonoma
Gastrointestinal hemorrhage, Hepatomegaly, Weight loss, Increased circulating cortisol level, Ste... ORPHA:97280
Liposarcoma
Weight loss ORPHA:69078
Sarcoidosis, Susceptibility To, 1
Splenomegaly, Hepatomegaly, Pulmonary arterial hypertension, Weight loss, Pericardial effusion OMIM:181000
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Myotonia Permanens
Myotonia ORPHA:99735
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Myotonia, Potassium-Aggravated
Myotonia OMIM:608390
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Grfoma
Gastrointestinal hemorrhage, Weight loss, Hepatomegaly, Increased circulating cortisol level ORPHA:97261
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Episodic Ataxia Type 1
Myotonia ORPHA:37612
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Cachexia OMIM:175500
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Hepatocellular Carcinoma
Portal hypertension, Hypotension, Hepatomegaly, Budd-Chiari syndrome, Weight loss, Internal hemor... ORPHA:88673
Spastic Paraplegia 79, Autosomal Recessive
Myotonia OMIM:615491
Granulomatosis With Polyangiitis
Localized pulmonary hemorrhage, Weight loss, Diffuse alveolar hemorrhage, Retinal hemorrhage OMIM:608710
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Trisomy 18
Atrial septal defect, Ventricular septal defect, Cachexia ORPHA:3380
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Short Syndrome
Weight loss ORPHA:3163
Marfan Syndrome
Slender build, Congestive heart failure, Cachexia, Mitral valve calcification, Mitral valve prolapse ORPHA:558
Igg4-Related Kidney Disease
Enlarged kidney, Prostatitis, Arteritis, Pericarditis, Weight loss ORPHA:449395
Cystinosis, Nephropathic
Failure to thrive in infancy, Decreased plasma carnitine, Splenomegaly, Hepatomegaly, Male hypogo... OMIM:219800
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy ORPHA:702
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Myotonia OMIM:601559
Pyomyositis
Sudden cardiac death, Weight loss ORPHA:764
Perry Syndrome
Weight loss OMIM:168605
Igg4-Related Aortitis
Weight loss ORPHA:449400
Hereditary Late-Onset Parkinson Disease
Orthostatic hypotension due to autonomic dysfunction, Weight loss ORPHA:411602
Insulin-Resistance Syndrome Type B
Decreased body weight, Abnormality of body weight, Enlarged ovaries, Enlarged polycystic ovaries,... ORPHA:2298
Oromandibular Dystonia
Weight loss ORPHA:93958
Bannayan-Riley-Ruvalcaba Syndrome
Telangiectasia, Angina pectoris, Intracranial hemorrhage, Cachexia ORPHA:109
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
X-Linked Intellectual Disability, Cabezas Type
Hypogonadism, Obesity, Cachexia ORPHA:85293
Fatal Familial Insomnia
Weight loss OMIM:600072
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Hypoperistalsis, Failure to thrive, Achalasia, Weight loss ORPHA:1018
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Schwartz-Jampel Syndrome, Type 1
Myotonia OMIM:255800
Riddle Syndrome
Intraventricular hemorrhage, Telangiectasia, Weight loss, Conjunctival telangiectasia ORPHA:420741
Refractory Celiac Disease
Weight loss ORPHA:398063
Silver-Russell Syndrome
Cachexia, Obesity, Failure to thrive in infancy ORPHA:813
Schwartz-Jampel Syndrome
Decreased body weight, Arrhythmia, Myotonia, Pulmonary arterial hypertension, Cachexia ORPHA:800
Zollinger-Ellison Syndrome
Hematochezia, Weight loss, Gastrointestinal hemorrhage, Increased circulating cortisol level ORPHA:913
Peripheral Primitive Neuroectodermal Tumor
Weight loss, Metrorrhagia ORPHA:370348
Multiple Endocrine Neoplasia Type 1
Amenorrhea, Primary hypercortisolism, Impotence, Hematemesis, Hypertension, Melena, Decreased mal... ORPHA:652
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Weight loss ORPHA:1333
Pneumocystosis
Weight loss ORPHA:723
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss ORPHA:2126
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Pemphigus Vulgaris
Weight loss ORPHA:704
Cushing Syndrome Due To Ectopic Acth Secretion
Capillary fragility, Weight loss, Amenorrhea, Oligomenorrhea, Abnormal libido, Myocardial infarct... ORPHA:99889
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Thymoma
Weight loss ORPHA:99867
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Stickler Syndrome
Cachexia, Mitral valve prolapse, Arrhythmia, Slender build ORPHA:828
Vipoma
Weight loss, Hepatomegaly, Increased circulating cortisol level ORPHA:97282
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Failure to thrive, Decreased methylmalonyl-CoA mutase activity OMIM:277400
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Weight loss ORPHA:85408
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity OMIM:277410
Viss Syndrome
Right ventricular dilatation, Patent foramen ovale, Coronary sinus enlargement, Atrial septal def... OMIM:619472
Multiple Myeloma
Splenomegaly, Weight loss ORPHA:29073
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Splenomegaly, Failure to thrive in infancy ORPHA:37042
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Choreoacanthocytosis
Weight loss, Dilated cardiomyopathy, Splenomegaly, Hepatomegaly ORPHA:2388
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Parathyroid Carcinoma
Shortened QT interval, Weight loss ORPHA:143
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia, Steatorrhea ORPHA:3217
Sarcoidosis
Portal hypertension, Ventricular tachycardia, Arrhythmia, Hepatomegaly, Abnormal cardiac ventricu... ORPHA:797
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Small for gestational age ORPHA:424
Cockayne Syndrome
Retinal hemorrhage, Splenomegaly, Hepatomegaly, Hypertension, Cachexia ORPHA:191
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Steatorrhea ORPHA:309031
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Weight loss ORPHA:3337
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Idiopathic Camptocormia
Myotonia ORPHA:1320
Immunodeficiency 82 With Systemic Inflammation
Vasculitis in the skin, Splenomegaly, Weight loss OMIM:619381
Proteus Syndrome
Pulmonary embolism, Splenomegaly, Sudden cardiac death, Enlarged polycystic ovaries, Cachexia ORPHA:744
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
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