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Gene: Ndufs6 MGI:107932

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Gene Summary

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

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
prenatal lethality Ndufs6em1(IMPC)Bay HOM   E18.5 0.00
preweaning lethality, complete penetrance Ndufs6em1(IMPC)Bay HOM   Early adult 0.00

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Viewing: all phenotypes
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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

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Eye Morphology

VIP of left eye

16 Images

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Eye Morphology

VIP of left fundus

16 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

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Eye Morphology

VIP of right fundus

16 Images

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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
Hepatomegaly, Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Failure... ORPHA:2609
Mitochondrial Complex I Deficiency, Nuclear Type 9
Decreased activity of mitochondrial complex I 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, Decreased activity of mitochondrial ATP synthase complex, Decreas... OMIM:618378
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Ethanolaminosis
Cardiomegaly OMIM:227150
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Decreased activity of mitochondrial complex IV, Reduced l... OMIM:614096
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect... OMIM:620135
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Impotence, Arrhythmia ORPHA:85447
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Increased mitochondrial number, ST segment elevation, Ventricular tachyc... ORPHA:263297
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Cardiomegaly OMIM:300886
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Decreased activity of mitochondrial com... OMIM:619064
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... ORPHA:3092
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive, Abnormality ... ORPHA:91130
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R... ORPHA:422
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ... ORPHA:860
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Cardiomegaly, Pericardial effusion, Decreased activity of mitochondria... OMIM:614702
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Abnormal heart morphology, Palpitations, Decreased activity of mitochondrial c... OMIM:618250
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ... OMIM:115197
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... ORPHA:615
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Congestive heart failure, Splenomegaly... OMIM:235200
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Decreased mitochondrial number ORPHA:352447
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Failure to thrive OMIM:269920
Mitochondrial Complex I Deficiency, Nuclear Type 36
Decreased activity of mitochondrial complex I, Perimembranous ventricular septal defect, Cardiome... OMIM:619170
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... ORPHA:3287
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Dilated cardiomyopathy OMIM:602541
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Decreased activity of mitochondrial complex IV, Decre... OMIM:617713
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atria... OMIM:618652
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Percussion myotonia, Prolonged QTc interval, Increased QRS voltage OMIM:619040
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Slender build ORPHA:352470
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Endoc... OMIM:212140
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Cardiomegaly, Decreased plasma total carnitine, Arrhythmia ORPHA:42
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Weight loss, Abnormal left ve... ORPHA:3208
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegaly, Congestive heart ... ORPHA:465508
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus... ORPHA:555874
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension ORPHA:767
Pulmonary Blastoma
Weight loss ORPHA:64741
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat... OMIM:300280
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction OMIM:253250
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Weight loss ORPHA:2198
Double Outlet Left Ventricle
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... ORPHA:3427
Refsum Disease, Classic
Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly OMIM:266500
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Transient hyperlipidemia, Cardiomegaly OMIM:255120
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly ORPHA:858
Pleural Mesothelioma
Hepatomegaly, Abnormal cardiovascular system physiology, Weight loss ORPHA:50251
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Weight loss, Bradyca... ORPHA:330001
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... ORPHA:100080
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy OMIM:252920
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Failur... ORPHA:99931
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... ORPHA:308552
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... ORPHA:97287
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Decreased activity of mitochondrial complex IV, Weight loss, Decreased activity of mito... OMIM:613662
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus... OMIM:619705
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly OMIM:256550
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Abnormality of mitochondrial metabolism, Cardiomegaly ORPHA:391428
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Weight loss, Atrial septal defect, Hypertrophic cardiomyopathy, Failure to thrive ORPHA:1842
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Weight loss ORPHA:79238
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... ORPHA:100082
Tuberculosis
Weight loss ORPHA:3389
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Friedreich Ataxia
Abnormal EKG, Congestive heart failure, Decreased pyruvate carboxylase activity, Mitochondrial ma... OMIM:229300
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left ventricular ejection fraction, Hyp... OMIM:201475
Yao Syndrome
Ventricular hypertrophy, Pericarditis, Weight loss OMIM:617321
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Decreased activity of mitochondrial complex IV, Cachexia, Weight loss OMIM:612075
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Small for gestational age, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Abnormal cardiac ventricle morphology, J... ORPHA:85443
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:86893
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Myotonia, First degree atrioventricular block, Obesity, Abnormal cardiac sep... ORPHA:589821
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia, Cachexia ORPHA:157973
Idiopathic Achalasia
Weight loss ORPHA:930
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Abnormal mitochondrial shape, Decreased activity of mitochondrial complex IV, Decre... ORPHA:17
Cantu Syndrome
Bicuspid aortic valve, Large for gestational age, Pericardial effusion, Cardiomegaly, Congenital ... OMIM:239850
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive, Premature ovarian insufficiency, Female infertility OMIM:619518
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction... ORPHA:268
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Decreased plasma free carnitine, Hyperlipidemia, Cardiom... ORPHA:228308
8P23.1 Microdeletion Syndrome
Cryptorchidism, Tetralogy of Fallot, Obesity, Weight loss, Abnormal cardiac septum morphology, Hy... ORPHA:251071
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard... ORPHA:679
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Myotonia, Hypertriglyceridemia, Supraventricular arrhythmia, Sudden ca... ORPHA:98855
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Weight loss, Hypotension, Arrhythmia ORPHA:188
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Cardiomegaly OMIM:618838
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Myotonia of the upper limb, Myotonia, Myotonia of the face, Cold-sensitive myo... ORPHA:684
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Myotonia, Hypertriglyceridemia, Sudden cardiac death, Supraventricular... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Myotonia, Hypertriglyceridemia, Sudden cardiac death, Supraventricular... ORPHA:98853
Familial Glucocorticoid Deficiency
Decreased circulating cortisol level, Cryptorchidism, Testicular adrenal rest tumor, Weight loss,... ORPHA:361
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure, Cardiomegaly OMIM:619259
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... ORPHA:100075
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium morphology, ... ORPHA:183
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Failure to thrive, Mitochondrial swelling OMIM:615595
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... OMIM:500013
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy ORPHA:158687
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Myotonia, Hypertriglyceridemia, Supraventricular arrhythmia, Sudden ca... ORPHA:98863
Reticular Dysgenesis
Failure to thrive, Abnormality of mitochondrial metabolism, Weight loss ORPHA:33355
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Portal hypertension, Pericardial effusion, Hepatosplenomegaly, Weight... OMIM:619487
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block... ORPHA:94080
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa... ORPHA:980
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Weight loss ORPHA:100024
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Impotence OMIM:268800
Huntington Disease-Like 2
Weight loss ORPHA:98934
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Right ventricular hypertrophy OMIM:253700
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number OMIM:615578
Fumarase Deficiency
Decreased fumarate hydratase activity, Failure to thrive, Perimembranous ventricular septal defec... OMIM:606812
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Dysplastic tricuspid valve, Mitral valve p... OMIM:612863
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Impotence, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertension, Priapism OMIM:603903
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Abnormal pericardium morphology, Congestive heart failure, Weight loss ORPHA:67
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... OMIM:614921
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... ORPHA:91139
Friedreich Ataxia 2
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Decreased pyruvat... OMIM:601992
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Enlarged kidney, Decreased plasma total carni... OMIM:608836
Gm1 Gangliosidosis
Ventricular septal defect, Congestive heart failure, Splenomegaly, Hepatosplenomegaly, Abnormal h... ORPHA:354
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Weight loss ORPHA:42642
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:66661
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Palpitations, Hyp... ORPHA:100078
Riboflavin Transporter Deficiency
Hypertension, Hypogonadism, Cachexia ORPHA:97229
Mucolipidosis Type Ii
Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog... ORPHA:576
Follicular Lymphoma
Splenomegaly, Weight loss ORPHA:545
Rhabdoid Tumor
Hypertension, Internal hemorrhage, Weight loss ORPHA:69077
Graves Disease, Susceptibility To, 1
Congestive heart failure, Weight loss OMIM:275000
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... OMIM:160800
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Cachexia ORPHA:93941
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myocardial infarction, Cachexia, Myocard... ORPHA:3452
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Splenomega... OMIM:602782
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Hepatomegaly, Male infertility, Primary testicular failure, Congesti... ORPHA:85450
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Abnormality... ORPHA:298
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Erythrokeratodermia Variabilis
Abnormal testis morphology, Weight loss ORPHA:317
Felty Syndrome
Splenomegaly, Hepatomegaly, Pericarditis, Weight loss ORPHA:47612
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Hepatomegaly, Weight loss, Splenomegaly ORPHA:3226
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, Myotonia, First degree atrioventricular block, Hypogonadism,... OMIM:160900
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Chronic Hiccup
Weight loss ORPHA:396
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Abnormality of reprod... ORPHA:1501
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Weight loss ORPHA:1164
Q Fever
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, S... ORPHA:781
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Weight loss ORPHA:411703
Fucosidosis
Hepatomegaly, Failure to thrive, Cardiomegaly ORPHA:349
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Weight loss,... ORPHA:171876
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Cardiomegaly OMIM:620306
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Weight loss, Cerebral ischemia, Arrhyt... ORPHA:397
Tsh-Secreting Pituitary Adenoma
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Supraventricular arr... ORPHA:91347
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Abnormal pericardium morphology, Congestive heart failure, Weight ... ORPHA:35687
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations, Weight loss OMIM:188580
Isaacs Syndrome
Weight loss ORPHA:84142
Familial Thrombocytosis
Transient ischemic attack, Splenomegaly, Weight loss, Syncope, Cerebral ischemia, Pulmonary arter... ORPHA:71493
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Cardiomegaly, Mucosal telangiectasiae ORPHA:2463
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Right ventricular dilatation, Hepatomegaly ORPHA:369840
Myotonic Dystrophy 2
Handgrip myotonia, Tachycardia, Myotonia, Oligozoospermia, Right bundle branch block, Premature v... OMIM:602668
Idiopathic Bronchiectasis
Cachexia, Myocardial infarction ORPHA:60033
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Cardiac arrest, Weight loss ORPHA:139402
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Portal hypertension, Weight loss, Hepatosplenomegaly, Hypotension ORPHA:98850
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Dyspareunia, Sudden cardiac death, Myocardial infarction, Weight los... ORPHA:36426
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Failure to thrive, Abnormal mitochondrial shape ORPHA:543470
Poems Syndrome
Pericardial effusion, Weight loss, Hypogonadism, Erectile dysfunction, Pulmonary arterial hyperte... ORPHA:2905
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Failure to thrive, Ventricular septal defect, Cachexia ORPHA:217346
Inflammatory Bowel Disease 11
Hematochezia, Weight loss OMIM:191390
Immunodeficiency 27A
Splenomegaly, Weight loss, Hepatosplenomegaly OMIM:209950
Classic Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:391
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve... ORPHA:365
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Atrial septal defect, Left vent... ORPHA:79330
Myotonia Congenita, Autosomal Recessive
Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs OMIM:255700
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Increased body weight, Weight los... ORPHA:905
Huntington Disease-Like 2
Weight loss OMIM:606438
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Cachexia, Testicular neoplasm, Weight loss ORPHA:83469
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome... OMIM:300967
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Weight loss ORPHA:131
Cystic Echinococcosis
Hepatomegaly, Weight loss, Abnormality of the testis size, Abnormal heart morphology ORPHA:400
Congenital Tracheomalacia
Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re... ORPHA:95430
Oculogastrointestinal Muscular Dystrophy
Abnormal mitral valve morphology, Cachexia ORPHA:1876
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly, Weight loss, Hepatosplenomegaly, Hypertrophic cardiomyopathy OMIM:613673
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Mcdonough Syndrome
Cryptorchidism, Cachexia ORPHA:2471
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary... ORPHA:117
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Lynch Syndrome
Gastrointestinal hemorrhage, Weight loss, Cardiac diverticulum ORPHA:144
Juvenile Huntington Disease
Weight loss ORPHA:248111
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Leishmaniasis
Splenomegaly, Hepatomegaly, Weight loss ORPHA:507
Lymphoid Interstitial Pneumonia
Hepatomegaly, Raynaud phenomenon, Weight loss, Pulmonary venous hypertension, Failure to thrive, ... ORPHA:79128
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Weight loss OMIM:613239
Wolman Disease
Splenomegaly, Hepatomegaly, Cachexia, Steatorrhea ORPHA:75233
Isolated Permanent Neonatal Diabetes Mellitus
Weight loss, Failure to thrive, Hypovolemia, Abnormal heart morphology ORPHA:99885
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block... ORPHA:276621
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Hypokalemic Periodic Paralysis
Impaired myocardial contractility, Myotonia ORPHA:681
Huntington Disease
Abnormal libido, Decreased body mass index, Weight loss ORPHA:399
Nephroblastoma
Hypertension, Weight loss ORPHA:654
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Renal Nutcracker Syndrome
Dyspareunia, Orthostatic hypotension, Tachycardia, Dysmenorrhea, Weight loss, Syncope, Infertility ORPHA:71273
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Weight loss, Cardiac diverticulum ORPHA:440437
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Right ventricular failure, Heart murmur, Weight loss, Palpitations, Facial telangie... ORPHA:100085
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Decreased body weight OMIM:608013
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Cardiac arrest, Dilated cardiomyopathy, Weight loss, Hypotension ORPHA:20
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Congestive heart failure, Steatorrhea, Hypocholesterolemia, Failure t... ORPHA:14
Primary Myelofibrosis
Hepatomegaly, Cachexia, Portal hypertension, Splenomegaly, Hepatosplenomegaly ORPHA:824
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Menometrorrhagia, Epistaxis, Weight loss, Cardiomyopathy ORPHA:79430
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Myotonia Fluctuans
Handgrip myotonia, Myotonia of the upper limb, Myotonia of the lower limb, Cold-sensitive myotoni... ORPHA:99734
Cap Polyposis
Hematochezia, Weight loss ORPHA:160148
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Heart m... OMIM:252500
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia, Weight loss ORPHA:221098
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Dilated card... ORPHA:255210
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Weight loss ORPHA:103910
Peritoneal Cystic Mesothelioma
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss ORPHA:168816
Alveolar Echinococcosis
Abnormal pericardium morphology, Budd-Chiari syndrome, Portal hypertension, Weight loss ORPHA:284
Eosinophilic Gastroenteritis
Hematochezia, Steatorrhea, Weight loss ORPHA:2070
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Beta-Ketothiolase Deficiency
Hypertension, Weight loss, Hypotension, Hepatomegaly ORPHA:134
Majeed Syndrome
Hepatomegaly, Cachexia, Splenomegaly, Weight loss, Failure to thrive ORPHA:77297
Rheumatoid Arthritis
Vasculitis, Weight loss OMIM:180300
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Abnormal myocardium morphology, Sudden cardiac death, Weight loss ORPHA:537
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Tachycardia, Splenomegaly, Weight loss, Syncope, Hypotension ORPHA:98849
Renpenning Syndrome
Decreased testicular size, Cachexia ORPHA:3242
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Hepatomegaly, Cardiomegaly OMIM:618143
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney OMIM:130650
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Cronkhite-Canada Syndrome
Splenomegaly, Hepatomegaly, Cachexia ORPHA:2930
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Cachexia, Hypovolemia, Hepatosplenomegaly, Weight los... ORPHA:275761
Castleman Disease
Restrictive cardiomyopathy, Weight loss ORPHA:160
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Weight loss OMIM:605543
Postinfectious Vasculitis
Cerebral vasculitis, Raynaud phenomenon, Orchitis, Weight loss, Cardiomyopathy, Hypertension, Isc... ORPHA:48435
Bohring-Opitz Syndrome
Severe failure to thrive, Abnormal cardiac septum morphology, Bradycardia, Cardiomegaly ORPHA:97297
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Fucosidosis
Splenomegaly, Hepatomegaly, Failure to thrive, Cardiomegaly OMIM:230000
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Mitral stenosis, Delayed mena... ORPHA:740
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss, Mitral regurgitation, Dilated cardiomyopathy, Mitral valve prolapse OMIM:607459
Neuroblastoma, Susceptibility To, 1
Hypertension, Failure to thrive, Weight loss OMIM:256700
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Weight loss OMIM:164310
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Mitral valve calcification, Right ventricular failure, Increased pulmonary vascular... ORPHA:60025
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Cachexia, Abnormal heart morphology, Hematochezia, Melena, Intestina... ORPHA:79076
Brody Disease
Percussion myotonia, Myotonia OMIM:601003
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Cachexia, Defective DNA repair after ultraviolet radiation damag... OMIM:610965
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Weight ... ORPHA:221
Huntington Disease-Like 1
Weight loss ORPHA:157941
Christianson Syndrome
Cachexia ORPHA:85278
Hyperkalemic Periodic Paralysis
Congestive heart failure, Arrhythmia, Myotonia ORPHA:682
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block... ORPHA:29072
Rat-Bite Fever
Myocarditis, Pericarditis, Endocarditis, Weight loss ORPHA:31205
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Premature ovarian insufficiency, Decreased circulating cortisol level, W... ORPHA:199299
Fanconi Anemia
Abnormality of chromosome stability, Cryptorchidism, Weight loss, Azoospermia, Decreased fertilit... ORPHA:84
Alg9-Cdg
Hepatomegaly, Tricuspid regurgitation, Ventricular septal defect, Pericardial effusion, Abnormal ... ORPHA:79328
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Acute Promyelocytic Leukemia
Weight loss, Metrorrhagia, Epistaxis, Diffuse alveolar hemorrhage ORPHA:520
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hematemesis, Pericardial effusion, Splenomegaly, Vasculitis, Weight loss, Hematoche... OMIM:615846
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Myotonia, Potassium-Aggravated
Percussion myotonia, Handgrip myotonia, Myotonia OMIM:608390
Brucellosis
Hepatomegaly, Pericarditis, Transient ischemic attack, Small for gestational age, Orchitis, Myoca... ORPHA:1304
Acute Adrenal Insufficiency
Orthostatic hypotension, Decreased female libido, Decreased circulating cortisol level, Myocardia... ORPHA:95409
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension, Weight loss ORPHA:90060
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Vasculitis, Weight loss ORPHA:324964
Aredyld Syndrome
Splenomegaly, Hepatomegaly, Cachexia ORPHA:1133
Ogden Syndrome
Atrial septal defect, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, ... OMIM:300855
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Atrioventricular block, Reduced left ventricular ejecti... ORPHA:581
Primary Intestinal Lymphangiectasia
Pericardial effusion, Weight loss ORPHA:90362
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Myotonia, Shortened PR interval, Obesity, Weight loss, Impaired myocardial... ORPHA:79102
Reactive Arthritis
Aortic regurgitation, Pericarditis, Weight loss ORPHA:29207
Ménétrier Disease
Gastrointestinal hemorrhage, Weight loss ORPHA:2494
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Hypertriglyceridemia, Cardiomegaly, Congestive heart failure, Splenomegaly, Irregul... OMIM:256040
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval, Cachexia OMIM:312750
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Igg4-Related Retroperitoneal Fibrosis
Renovascular hypertension, Large vessel vasculitis, Hydrocele testis, Hypertension, Weight loss, ... ORPHA:49041
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Weight loss ORPHA:33577
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Failure to thrive OMIM:618278
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
African Trypanosomiasis
Abnormal EKG, Pericarditis, Hepatomegaly, Abnormality of the menstrual cycle, Myocarditis, Conges... ORPHA:3385
Focal Myositis
Weight loss ORPHA:48918
Imerslund-Gräsbeck Syndrome
Tachycardia, Failure to thrive, Weight loss ORPHA:35858
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Handgrip myotonia, Percussion-induced rapid rolling muscle contractions, Myotonia ORPHA:324442
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hepatosplenomegaly ORPHA:86884
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cryptorchidism, Renovascular hypertension, Hypertension,... ORPHA:3472
Secondary Short Bowel Syndrome
Failure to thrive, Steatorrhea, Weight loss ORPHA:95427
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia, Premature ovarian insufficiency ORPHA:391307
Kaposi Sarcoma
Weight loss ORPHA:33276
Microsporidiosis
Cachexia, Myocarditis, Endocarditis, Weight loss, Prostatitis ORPHA:2552
Celiac Disease, Susceptibility To, 1
Failure to thrive, Infertility, Steatorrhea, Weight loss OMIM:212750
Infantile Krabbe Disease
Abnormal heart rate variability, Failure to thrive, Cachexia ORPHA:206436
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... OMIM:182250
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia ORPHA:371
Thymic Carcinoma
Weight loss ORPHA:99868
Addison Disease
Orthostatic hypotension, Primary testicular failure, Premature ovarian insufficiency, Decreased f... ORPHA:85138
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Pyomyositis
Weight loss, Sudden cardiac death, Testicular teratoma ORPHA:764
Thomsen And Becker Disease
Myotonia ORPHA:614
Aicardi-Goutières Syndrome
Raynaud phenomenon, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:51
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Chronic Beryllium Disease
Weight loss ORPHA:133
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Caroli Disease
Splenomegaly, Hepatomegaly, Portal hypertension, Weight loss ORPHA:53035
Osteosarcoma
Weight loss ORPHA:668
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Abnormality of the me... ORPHA:90794
Hypokalemic Periodic Paralysis, Type 1
Myotonia OMIM:170400
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... OMIM:619991
Myotonia With Skeletal Abnormalities And Mental Retardation
Myotonia OMIM:255710
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormal mitral valve morphology, Cachexia ORPHA:1969
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Cachexia, Aortic valve calcificatio... ORPHA:2072
Nocardiosis
Pericarditis, Abnormal heart valve morphology, Endocarditis, Weight loss ORPHA:31204
Congenital Tufting Enteropathy
Failure to thrive, Steatorrhea, Weight loss ORPHA:92050
Tetrasomy 12P
Cachexia ORPHA:884
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Acetazolamide-Responsive Myotonia
Myotonia ORPHA:99736
Trisomy 18
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Cachexia ORPHA:3380
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Splenomegaly, Hypogonadism, Hypertrophic cardiomyopathy, Slender build ORPHA:1328
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Large for gestational age, Splenomegaly, Cryptorchidism, Obesity, Hyp... ORPHA:116
Steinert Myotonic Dystrophy
Handgrip myotonia, Myotonia of the upper limb, Atrial fibrillation, Prolonged QRS complex, Left v... ORPHA:273
Congenital Fiber-Type Disproportion Myopathy
Weight loss, Failure to thrive, Cor pulmonale, Abnormal heart morphology ORPHA:2020
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Primary Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Spider hemangioma, Congestive heart failure, Splenomegaly, Hep... ORPHA:171
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Myopathy, X-Linked, With Excessive Autophagy
Myotonia OMIM:310440
Kikuchi-Fujimoto Disease
Hepatomegaly, Splenomegaly, Myocarditis, Vasculitis, Weight loss, Vasculitis in the skin ORPHA:50918
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Myotonia ORPHA:209335
Riddle Syndrome
Conjunctival telangiectasia, Intraventricular hemorrhage, Weight loss, Telangiectasia, Chromosoma... ORPHA:420741
Somatostatinoma
Gastrointestinal hemorrhage, Hepatomegaly, Weight loss, Increased circulating cortisol level, Ste... ORPHA:97283
Bullous Pemphigoid
Weight loss ORPHA:703
Ppoma
Gastrointestinal hemorrhage, Hepatomegaly, Increased circulating cortisol level, Weight loss ORPHA:97278
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Cachexia OMIM:175500
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Failure to thrive, Decreased methylmalonyl-CoA mutase activity OMIM:251110
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort... ORPHA:904
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Decreased testicular size ORPHA:813
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Weight loss ORPHA:97286
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Failure to thrive in infancy, Cardiomegaly, P... ORPHA:51608
Klatskin Tumor
Hepatomegaly, Weight loss ORPHA:99978
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Weight loss ORPHA:97289
Myotonia Permanens
Myotonia ORPHA:99735
Liposarcoma
Weight loss ORPHA:69078
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Isolated Complex I Deficiency
Hepatomegaly, Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Failure... ORPHA:2609
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Weight loss, Pulmonary arterial hypertension OMIM:181000
Episodic Ataxia Type 1
Myotonia ORPHA:37612
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Weight loss ORPHA:54251
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Granulomatosis With Polyangiitis
Retinal hemorrhage, Weight loss, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage OMIM:608710
X-Linked Intellectual Disability, Cabezas Type
Hypogonadism, Decreased testicular size, Cachexia, Obesity ORPHA:85293
Glucagonoma
Gastrointestinal hemorrhage, Hepatomegaly, Weight loss, Increased circulating cortisol level, Ste... ORPHA:97280
Perry Syndrome
Weight loss OMIM:168605
Grfoma
Gastrointestinal hemorrhage, Hepatomegaly, Increased circulating cortisol level, Weight loss ORPHA:97261
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Failure to thrive, Decreased methylmalonyl-CoA mutase activity OMIM:251100
Igg4-Related Aortitis
Weight loss ORPHA:449400
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Hereditary Late-Onset Parkinson Disease
Orthostatic hypotension due to autonomic dysfunction, Weight loss ORPHA:411602
Short Syndrome
Weight loss ORPHA:3163
Marfan Syndrome
Mitral valve calcification, Cachexia, Congestive heart failure, Mitral valve prolapse, Slender build ORPHA:558
Spastic Paraplegia 79B, Autosomal Recessive
Myotonia OMIM:615491
Schwartz-Jampel Syndrome
Myotonia, Cachexia, Testicular torsion, Decreased body weight, Pulmonary arterial hypertension, A... ORPHA:800
Bannayan-Riley-Ruvalcaba Syndrome
Intracranial hemorrhage, Angina pectoris, Cachexia, Telangiectasia ORPHA:109
Vipoma
Hematochezia, Hepatomegaly, Increased circulating cortisol level, Weight loss ORPHA:97282
Oromandibular Dystonia
Weight loss ORPHA:93958
Peripheral Primitive Neuroectodermal Tumor
Metrorrhagia, Weight loss ORPHA:370348
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Increased body weight,... ORPHA:2298
Refractory Celiac Disease
Weight loss ORPHA:398063
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Weight loss, Achalasia, Failure to thrive, Hypoperistalsis ORPHA:1018
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Fatal Familial Insomnia
Weight loss OMIM:600072
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Pemphigus Vulgaris
Weight loss ORPHA:704
Pneumocystosis
Weight loss ORPHA:723
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Hematemesis, Weight loss, Melena, Hypertension, Impotence, Increased circu... ORPHA:652
Igg4-Related Kidney Disease
Pericarditis, Weight loss, Arteritis, Prostatitis, Enlarged kidney ORPHA:449395
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Parathyroid Carcinoma
Shortened QT interval, Testicular neoplasm, Weight loss ORPHA:143
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Cushing Syndrome Due To Ectopic Acth Secretion
Paradoxical increased cortisol secretion on dexamethasone suppression test, Myocardial infarction... ORPHA:99889
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Immunodeficiency 31C
Splenomegaly, Hepatomegaly, Weight loss OMIM:614162
Zollinger-Ellison Syndrome
Hematochezia, Increased circulating cortisol level, Gastrointestinal hemorrhage, Weight loss ORPHA:913
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Familial Pancreatic Carcinoma
Weight loss, Hepatosplenomegaly ORPHA:1333
Thymoma
Weight loss ORPHA:99867
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Stickler Syndrome
Arrhythmia, Slender build, Cachexia, Mitral valve prolapse ORPHA:828
Cystinosis, Nephropathic
Male infertility, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Weight loss, Male hyp... OMIM:219800
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Myotonia OMIM:601559
Choreoacanthocytosis
Splenomegaly, Hepatomegaly, Dilated cardiomyopathy, Weight loss ORPHA:2388
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Failure to thrive in infancy, Cachexia ORPHA:37042
Multiple Myeloma
Splenomegaly, Weight loss ORPHA:29073
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Cockayne Syndrome
Hepatomegaly, Cachexia, Splenomegaly, Cryptorchidism, Retinal hemorrhage, Hypertension ORPHA:191
Viss Syndrome
Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlargement, Mitral valve prolapse... OMIM:619472
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia, Steatorrhea ORPHA:3217
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss, Hepatosplenomegaly ORPHA:85408
Sarcoidosis
Hepatomegaly, Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricula... ORPHA:797
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive OMIM:277400
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Immunodeficiency 82 With Systemic Inflammation
Splenomegaly, Vasculitis in the skin, Weight loss OMIM:619381
Pancreatic Triacylglycerol Lipase Deficiency
Steatorrhea, Weight loss ORPHA:309031
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity OMIM:277410
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Proteus Syndrome
Testicular neoplasm, Sudden cardiac death, Enlarged polycystic ovaries, Splenomegaly, Pulmonary e... ORPHA:744
Primary Fanconi Renotubular Syndrome
Weight loss, Decreased circulating carnitine concentration ORPHA:3337
Nijmegen Breakage Syndrome
Abnormality of chromosome stability, Cachexia ORPHA:647
Gallbladder Neuroendocrine Tumor