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Gene: Pygm MGI:97830

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Gene Summary

Name:
muscle glycogen phosphorylase
Synonyms:
PG

Order Alleles

IMPC Data Collections

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
decreased locomotor activity Pygmem1(IMPC)J HOM Early adult 7.51×10-05
preweaning lethality, incomplete penetrance Pygmem1(IMPC)J HOM   Early adult 0.00
prolonged RR interval Pygmem1(IMPC)J HOM Early adult 1.12×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

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Electroretinography 3

Fundus file

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

4 Images

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X-ray

XRay Images Skull Lateral Orientation

4 Images

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X-ray

XRay Images Forepaw

4 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

12 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

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Human diseases caused by Pygm 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 Pygm by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycogen Storage Disease V
Exercise intolerance, Dark urine, Exercise-induced rhabdomyolysis, Elevated circulating creatine ... OMIM:232600
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Fatigue, Exercise intolerance, Dark urine, Skeletal muscle atrophy, Recurrent myoglobinuria, Elev... ORPHA:368

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycogen Storage Disease X
Exercise intolerance, Renal insufficiency, Elevated circulating creatine kinase concentration, Rh... OMIM:261670
Glycogen Storage Disease Ixd
Exercise intolerance, Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase... OMIM:300559
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... ORPHA:206549
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Scapular winging, Calf muscle pseudohypertrophy, Proximal muscle weaknes... ORPHA:352479
Myoglobinuria, Recurrent
Ragged-red muscle fibers, Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Glycogen Storage Disease Xi
Exercise intolerance, Renal insufficiency, Elevated circulating creatine kinase concentration, Rh... OMIM:612933
Glycogen Storage Disease V
Exercise intolerance, Dark urine, Exercise-induced rhabdomyolysis, Elevated circulating creatine ... OMIM:232600
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration... OMIM:620138
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Myalgia OMIM:255110
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... OMIM:618655
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Fatigue, Exercise intolerance, Dark urine, Skeletal muscle atrophy, Recurrent myoglobinuria, Elev... ORPHA:368
Rhabdomyolysis, Susceptibility To, 1
Exercise intolerance, Renal insufficiency, Elevated circulating creatine kinase concentration, Ce... OMIM:620235
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Exercise intolerance, Renal insufficiency, Elevated circulating creatine kinase concentration, Rh... ORPHA:228302
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury, Myalgia, Elevated circulating creatine kinase concentration OMIM:160010
Becker Muscular Dystrophy
Exercise intolerance, Abnormal urinary color, Fatigue, Skeletal muscle atrophy, Elevated circulat... ORPHA:98895
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Renal insufficiency, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Myalgia,... ORPHA:2364
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Myopathy, Pelvic gir... ORPHA:119
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute rhabdomyolysis, Elevated circulating creatine kinase concentration, Myalgia, Myoglobinuria,... OMIM:268200
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Myoglobinuria, EMG: myopathic abnormaliti... ORPHA:57
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Highly elevated creatine kinase, Calf muscle hypertrophy, P... OMIM:618848
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu... OMIM:616199
Exercise Intolerance, Riboflavin-Responsive
Exercise intolerance, Ragged-red muscle fibers OMIM:616839
Inclusion Body Myositis
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... ORPHA:611
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Fatigue, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dy... OMIM:253601
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... OMIM:615424
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat... OMIM:601954
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Inclusion Body Myopathy And Brain White Matter Abnormalities
Low back pain, Scapular winging, Proximal muscle weakness in upper limbs, Elevated circulating cr... OMIM:619733
Nonaka Myopathy
Elevated circulating creatine kinase concentration, Distal amyotrophy, EMG: myopathic abnormaliti... OMIM:605820
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... OMIM:620286
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati... ORPHA:178464
Oculopharyngodistal Myopathy 2
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas... OMIM:618940
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Elevated circulating creatine kinase concentration, Centrally nuclea... OMIM:618129
Genetic Recurrent Myoglobinuria
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Myositis, Recurrent myo... ORPHA:99845
Glycogen Storage Disease Vii
Exercise intolerance, Elevated circulating creatine kinase concentration, Exercise-induced myoglo... OMIM:232800
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Type 2 muscle fiber atrophy, EMG: myopathic abnormali... ORPHA:2593
Welander Distal Myopathy
Distal amyotrophy, Mildly elevated creatine kinase, Rimmed vacuoles OMIM:604454
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c... OMIM:254110
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho... OMIM:609115
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform OMIM:302045
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Elevated circulating creatine kinase concentration, Fatty r... OMIM:613204
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Facial hypotonia, Fatty ... ORPHA:266
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Exercise intolerance, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Red-bro... ORPHA:228305
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Phosphoglycerate Kinase 1 Deficiency
Exercise intolerance, Renal insufficiency, Exercise-induced myoglobinuria, Rhabdomyolysis, Myopathy OMIM:300653
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... OMIM:608099
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Achilles tend... OMIM:607155
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Myopathy, Distal, Tateyama Type
Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske... OMIM:614321
Myopathy With Lactic Acidosis, Hereditary
Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration... OMIM:255125
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Rhabdomyolysis, Elevated circulating creatine kinase concentration OMIM:145600
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of ... OMIM:619477
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Elevated circulating creatine kinase concentration, Ankle con... OMIM:620386
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of... OMIM:608807
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Flexion contracture, Type 2 muscle fiber atro... OMIM:160565
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Fatigue, Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf mu... OMIM:613157
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concen... OMIM:300696
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Elevated circulating creatine kinase concentra... ORPHA:1878
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Rhabdomyolysis OMIM:602199
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Highly elevated creatine kinase, Myopathy, Increased variability in muscle fiber diameter, Centra... OMIM:618992
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Myofibrillar Myopathy 11
Fatigue, Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, M... OMIM:619178
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture, Elevated circulating creatin... OMIM:300717
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Elevated circulating creatine kinase concentration, Muscle fiber cytoplasm... OMIM:609524
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Rhabdomyolysis, Exercise-induced myalgia, Myopathy, Myoglobinuria ORPHA:713
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Rhabd... OMIM:251900
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Exercise intolerance, Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal... ORPHA:457050
Coenzyme Q10 Deficiency, Primary, 1
Fatigue, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration... OMIM:607426
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Exercise-induced rhabdomyolysis, Exercise-induced myoglobinuria, Chronic kidney disease, Exercise... ORPHA:284426
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Increased variabilit... OMIM:611615
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:612999
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617760
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Arthralgia, Nephritis, IgA deposition in ... OMIM:613944
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... OMIM:619042
Pure Mitochondrial Myopathy
Exercise intolerance, Scapular winging, Recurrent myoglobinuria, Quadriceps muscle weakness, Rhab... ORPHA:254854
Congenital Myopathy 18
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... OMIM:620246
Bethlem Myopathy 2
Scapular winging, Elevated circulating creatine kinase concentration, Flexion contracture, Myopat... OMIM:616471
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Carnitine Palmitoyltransferase Ii Deficiency
Exercise intolerance, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Red-bro... ORPHA:157
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Fatigue, Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase conc... ORPHA:79240
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Flexion contracture, Increased variability in... OMIM:300718
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Myalgi... OMIM:620300
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, Elevated circula... OMIM:201475
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Distal lower limb amyotrophy, Proteinuria, Elevated circulating creatine kinase concentration, Cl... OMIM:614455
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k... OMIM:619566
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Myopathy, Centronuclear, 4
Exercise intolerance, Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine k... OMIM:614807
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Lower limb amyotrop... OMIM:616924
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated circulating creatine kinase concentration, Myopathy, Limb-girdle muscular dystrophy, Inc... OMIM:612937
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentration OMIM:609500
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Myalgi... ORPHA:171442
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating creatine kinase concentration, Rhabdomyolysis, Myopathy, Myalgia, Myoglobinu... OMIM:609015
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Oculopharyngeal Muscular Dystrophy
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ... ORPHA:270
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria, Hypoglycemic seizures, Hypoketotic hypoglycemia OMIM:231530
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... OMIM:253700
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... OMIM:619473
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,... OMIM:603689
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... OMIM:611705
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Elevated circulatin... OMIM:617114
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Creatine Phosphokinase, Elevated Serum
Fatigue, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, My... OMIM:123320
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Elevated circulating creatine kinase concentration, Abdominal pain, Centrally nucleated skeletal ... ORPHA:86812
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:601846
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Increased variability in muscle fiber diameter, Weakness of facial musculature, Increased endomys... OMIM:620265
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Fatty replacement of ske... OMIM:619790
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fatigue, Exercise intolerance, Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creati... ORPHA:264580
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Elevated circulating creatine kinase c... OMIM:160500
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Elevated circulating creatine kinase concentration, Ankle flexion contra... OMIM:617072
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elevated ci... OMIM:618138
Miyoshi Muscular Dystrophy 1
Elevated circulating creatine kinase concentration, Distal amyotrophy, Muscular dystrophy, Lower ... OMIM:254130
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Arthralgia, Nephritis, IgA deposition in ... OMIM:161950
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration... OMIM:616812
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Insulin resistance, Myopathy, Arthralgia, Microscopic hematuria ORPHA:79087
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Sternocleidomastoid amyotrophy, Thenar mu... OMIM:256030
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglyc... ORPHA:71212
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Myoglobinuria, Abnormality of masseter mus... ORPHA:423
Muscle Filaminopathy
Back pain, Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal mu... ORPHA:171445
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Shoulder g... OMIM:603511
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentrati... ORPHA:353
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Hypoglycemia, Acute rhabdomyolysis, Elevated circulating creatine kinase concentration... OMIM:616878
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Elevated circulating creatine kinase concentration, Fatty replacement of skele... OMIM:620249
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentratio... ORPHA:97240
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Muscular Dystrophy, Limb-Girdle, Type 1H
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... OMIM:608423
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Childhood-Onset Nemaline Myopathy
Exercise intolerance, Scapular winging, Flexion contracture, Increased muscle lipid content, Gene... ORPHA:171439
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Congenital Myopathy 10A, Severe Variant
Facial palsy, Elevated circulating creatine kinase concentration, Camptodactyly of finger, Increa... OMIM:614399
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, R... ORPHA:228308
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k... OMIM:613954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology... ORPHA:75840
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... OMIM:618484
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria, Decreased level of coenzyme Q10 in skeletal muscle OMIM:614652
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... OMIM:300580
Neuroleptic Malignant Syndrome
Fatigue, Rigors, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentr... ORPHA:94093
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... OMIM:617066
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... ORPHA:59135
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic sy... OMIM:608709
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Urethral stricture, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle ... OMIM:226670
Adenine Phosphoribosyltransferase Deficiency
Abdominal colic, Renal insufficiency, Proteinuria, Recurrent urinary tract infections, Dysuria, F... ORPHA:976
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... OMIM:310440
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Increased variab... ORPHA:401768
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... ORPHA:84090
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis OMIM:617006
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Myofibrillar myopathy, E... OMIM:609452
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Increased variability in muscle fiber diameter OMIM:613752
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... ORPHA:486815
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease... OMIM:166300
Myopathic Ehlers-Danlos Syndrome
Exercise intolerance, Congenital muscular torticollis, Decreased muscle mass, Multiple joint cont... ORPHA:536516
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr... OMIM:300555
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... OMIM:620161
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... OMIM:615422
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Myalgia, Type II diabetes mellitus ORPHA:225
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Papa Syndrome
Fatigue, Myositis, Proteinuria, Arthralgia, Type I diabetes mellitus ORPHA:69126
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... OMIM:602771
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Abdominal pain, Chest pain, Arthralgia, Renal amyloidosis OMIM:134610
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Arthralg... OMIM:613496
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Preeclampsia
Proteinuria, Abnormality of the kidney, Abdominal pain, Chronic kidney disease, Type I diabetes m... ORPHA:275555
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Bone pain, Generalized aminoaciduria, Hypercalciuria, Renal pho... OMIM:613388
Amyloidosis, Familial Visceral
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria OMIM:105200
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis... OMIM:254090
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Chest pain, Arthralgia, Myalgia ORPHA:375
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... ORPHA:596
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hip pain, Fatty replacement of skeletal muscl... ORPHA:52430
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration... OMIM:258450
Amyotrophic Lateral Sclerosis 21
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, H... OMIM:606070
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Dent Disease
Elevated circulating creatine kinase concentration, Bone pain, Nephrocalcinosis, Aminoaciduria, L... ORPHA:1652
Hereditary Renal Hypouricemia
Back pain, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Abnormal renal phy... ORPHA:94088
Paroxysmal Nocturnal Hemoglobinuria 2
Fatigue, Paroxysmal nocturnal hemoglobinuria, Arthralgia, Abdominal pain OMIM:615399
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita, Nemaline bodi... OMIM:619334
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... OMIM:617228
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Abdominal pain, Hematuria, Acute kidney injury ORPHA:54057
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Cystinosis
Fatigue, Renal insufficiency, Proteinuria, Renal tubular dysfunction, Myopathy, Aminoaciduria, Ty... ORPHA:213
Typical Nemaline Myopathy
Elevated circulating creatine kinase concentration, Facial palsy, Limb-girdle muscle weakness, Fl... ORPHA:171436
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Type I diabetes mellitus, Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:1192
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Congenital Myopathy 4A, Autosomal Dominant
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra... OMIM:255310
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Congenital Myopathy 22A, Classic
Fatigue, Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles ... OMIM:620351
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Abdomin... ORPHA:656
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter OMIM:614096
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Diabetes mellitus, Maternal diabetes, Insulin resistance, Insulin-... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Diabetes mellitus, Insulin resistance, Abnormality of skeletal muscle fiber size,... ORPHA:2348
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Cln3 Disease
Ataxia, Bradykinesia, T-wave inversion, Shuffling gait, Bradycardia, Loss of ambulation ORPHA:228346
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Abdominal pain, Chronic kidney disease, Nephrotic syndrom... ORPHA:85445
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Fatigue, Proteinuria, Hyperinsulinemia, Renal Fanconi syndrome, Fasting hypoglycemia, Glycosuria,... ORPHA:263455
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Postexertional symptom exacerbation, Proteinuria, Abnormality of the kidney, Hypoglycemia ORPHA:369
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Bone pain, Stage 5 chronic kidney... OMIM:300009
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Type 2 musc... OMIM:613845
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter OMIM:617235
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Cap Myopathy
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... ORPHA:171881
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria, Limb muscle weakness, Skeletal muscle atrophy OMIM:612300
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Nephrocalcinosis, Aminoaciduria,... OMIM:616026
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy, Ar... OMIM:613404
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Abdomin... ORPHA:567548
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... OMIM:620278
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Neuraminidase Deficiency
Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote... OMIM:256550
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Neurogenic bladder OMIM:619173
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Hypoglycemia, Mesangial hypercellularity, Stage 5 chron... OMIM:617575
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Flank pain, Functional abnormality of the ... ORPHA:93108
Autoinflammatory-Pancytopenia Syndrome
Type I diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria OMIM:619858
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture OMIM:619026
Free Sialic Acid Storage Disease
Nephrotic syndrome, Aplasia/Hypoplasia of the abdominal wall musculature, Proteinuria ORPHA:834
Cryoglobulinemia, Familial Mixed
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology OMIM:123550
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Lcat Deficiency
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... ORPHA:650
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... OMIM:616866
Idiopathic Congenital Hypothyroidism
Lethargy, Bradycardia ORPHA:95717
Sporadic Pheochromocytoma/Secreting Paraganglioma
Fatigue, Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Epi... ORPHA:276621
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exercise intolerance, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, R... OMIM:220110
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Diabetes mellitus, Proteinuria, Renal artery stenosis OMIM:209010
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Mildly elevated creatine kinase, Increased intramyocellular lipid dro... ORPHA:681
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... OMIM:612925
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bone pain, Bicarbonaturia, Bic... ORPHA:3337
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Congenital diaphragmatic hernia, Abn... ORPHA:2260
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Renal insufficiency, Proteinuria, Abdominal pain, Renal interstitial amyloid deposits,... ORPHA:85450
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Abdominal pain, Hematuria, Arthralgia, Myalgia,... ORPHA:91138
Lipodystrophy, Congenital Generalized, Type 4
Exercise intolerance, Elevated circulating creatine kinase concentration, Centrally nucleated ske... OMIM:613327
Optic Atrophy 11
Facial diplegia, Mildly elevated creatine kinase, Increased variability in muscle fiber diameter,... OMIM:617302
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis OMIM:618347
Donnai-Barrow Syndrome
Proteinuria, Congenital diaphragmatic hernia ORPHA:2143
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Skeletal muscle steatosis, Renal tubular dysfunction, Aminoacidur... ORPHA:436271
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Glycogen Storage Disease Xii
Elevated circulating creatine kinase concentration, Hemoglobinuria, Myopathy, Increased variabili... OMIM:611881
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block, Truncal ataxia OMIM:614407
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Exercise intolerance, Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyol... OMIM:157640
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria OMIM:215250
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Myositis, Proteinuria, Abdominal pain, Hematuria, Nephrotic synd... ORPHA:93552
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Vesicoureteral re... ORPHA:261222
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612924
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... OMIM:227810
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Exercise intolerance, Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal mus... OMIM:607459
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612926
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Myalgia, Incre... ORPHA:502423
Myh9-Related Disease
Nephropathy, Renal insufficiency, Proteinuria, Nephritis ORPHA:182050
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Paroxysmal Cold Hemoglobinuria
Back pain, Abnormal urinary color, Arthralgia, Hemoglobinuria ORPHA:90035
Galactosemia I
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine OMIM:230400
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... OMIM:256300
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... OMIM:601005
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Camptodactyly of finger ORPHA:2774
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Lacticaciduria OMIM:615595
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Arrhythmia, Gait disturbance, Bradycardia OMIM:609286
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Insulin-Resistance Syndrome Type B
Fatigue, Proteinuria, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes me... ORPHA:2298
Hereditary Pheochromocytoma-Paraganglioma
Fatigue, Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Epi... ORPHA:29072
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... ORPHA:347
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Ocular pain, Chronic kidney disease, Abnormal urine potassium c... ORPHA:411634
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:618348
Legionnaires Disease
Fatigue, Renal insufficiency, Proteinuria, Abdominal pain, Hematuria, Chest pain, Arthralgia, Mya... ORPHA:549
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Bone pain, Nephrolithiasis, Hypercalciuria, Nephroca... OMIM:300554
Majeed Syndrome
Glomerulopathy, Proteinuria, Flexion contracture, Bone pain, Arthralgia, Myalgia, Microscopic hem... ORPHA:77297
Eosinophilic Granulomatosis With Polyangiitis
Fatigue, Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Abdominal pain, Hematuria, T... ORPHA:183
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:308940
Aapoaiv Amyloidosis
Back pain, Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial ... ORPHA:439232
Renal Nutcracker Syndrome
Fatigue, Proteinuria, Abdominal pain, Flank pain, Hematuria, Renal artery stenosis, Microscopic h... ORPHA:71273
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Myalgia, Elevated circulating ... OMIM:617675
Fabry Disease
Renal insufficiency, Proteinuria, Abdominal pain, Urinary mulberry cells, Left ventricular hypert... OMIM:301500
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Abdominal pain, Rena... ORPHA:93126
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... OMIM:146255
Hellp Syndrome
Back pain, Shoulder pain, Fatigue, Proteinuria, Abdominal pain, Hemoglobinuria, Epigastric pain, ... ORPHA:244242
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... OMIM:614376
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Al Amyloidosis
Fatigue, Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid ... ORPHA:85443
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Elevated circulating creatine ... OMIM:619424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... OMIM:616538
Myasthenic Syndrome, Congenital, 19
Exercise intolerance, Increased variability in muscle fiber diameter, Facial palsy OMIM:616720
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Fatigue, Minimal change glomerulonephritis, Abdominal pain, Chronic kidney disease, Stage 5 chron... ORPHA:567546
Glutamine Deficiency, Congenital
Neonatal death, Bradycardia OMIM:610015
Nail-Patella Syndrome
Back pain, Renal insufficiency, Biceps aplasia, Proteinuria, Glomerulonephritis, Absence of pecto... OMIM:161200
Simple Cryoglobulinemia
Fatigue, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality ... ORPHA:91139
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myopathy, Increased variability in muscle fiber diameter OMIM:604377
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... OMIM:616503
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Hypospadias, Hypoglycemia, Flexion contracture, Ragged-red muscle fibers... ORPHA:17
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentration, Distal amy... OMIM:164310
Familial Thyroid Dyshormonogenesis
Lethargy, Bradycardia ORPHA:95716
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Glycogen Storage Disease Ia
Decreased muscle mass, Proteinuria, Hypoglycemia, Nephrolithiasis, Focal segmental glomeruloscler... OMIM:232200
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Abdominal pain, Hematuria, Myalgia ORPHA:36412
Nail-Patella Syndrome
Back pain, Renal insufficiency, Decreased muscle mass, Proteinuria, Abnormality of the kidney, Kn... ORPHA:2614
Systemic Sclerosis
Renal insufficiency, Proteinuria, Abnormality of the kidney, Bowel incontinence, Glomerulonephrit... ORPHA:90291
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Macroglossia, Co... OMIM:613150
Heme Oxygenase 1 Deficiency
Hematuria, Nephritis, Proteinuria OMIM:614034
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Illum Syndrome
Bradycardia OMIM:208155
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Bone pain, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephro... ORPHA:18
Acquired Generalized Lipodystrophy
Calf muscle pseudohypertrophy, Proteinuria, Insulin resistance, Insulin-resistant diabetes mellit... ORPHA:79086
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Tubulointerst... ORPHA:33001
Pseudo-Torch Syndrome 2
Lethargy, Bradycardia, Cerebral hemorrhage OMIM:617397
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Cystinosis, Nephropathic
Skeletal muscle atrophy, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Diabetes ... OMIM:219800
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt... ORPHA:168572
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Diaphragmatic eventration, Proteinuria, Congenital diaphragmat... OMIM:222448
Diffuse Alveolar Hemorrhage
Hematuria, Chest pain, Proteinuria ORPHA:90060
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Flexion contracture, Nephrotic syndrome, Focal segmental glomerulosclerosis, Macrogl... OMIM:617303
Melas
Exercise intolerance, Diabetes mellitus, Proteinuria, Ragged-red muscle fibers, Focal segmental g... ORPHA:550
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise... OMIM:619487
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Necrotizing Enterocolitis
Shock, Lethargy, Bradycardia, Hypotension ORPHA:391673
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Gitelman Syndrome
Proteinuria, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Abdominal pain... ORPHA:358
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... OMIM:277400
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Schimke Immuno-Osseous Dysplasia
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... ORPHA:1830
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria, Camptodactyly of finger ORPHA:2065
Malakoplakia
Proteinuria, Dysuria, Abdominal pain, Urinary bladder inflammation, Urinary urgency, Hematuria, C... ORPHA:556
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... ORPHA:488627
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Limb pain, Proteinuria OMIM:192315
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Hemorrhagic Fever-Renal Syndrome
Back pain, Fatigue, Anuria, Proteinuria, Glomerulonephritis, Abdominal pain, Chronic kidney disea... ORPHA:340
Igg4-Related Kidney Disease
Fatigue, Renal insufficiency, Proteinuria, Abdominal pain, Renal interstitial immunoglobulin depo... ORPHA:449395
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Chest ... ORPHA:1018
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Lymphatic Filariasis
Fatigue, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Hematuria, Nephrotic syndrom... ORPHA:2035
Combined Oxidative Phosphorylation Defect Type 39
Loss of ambulation, Tip-toe gait, Bradycardia ORPHA:565624
Wilson Disease
Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Malaise, Renal tubular dysfuncti... OMIM:277900
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Microscopic hematuria, Proteinuria, Abnormal renal physiology OMIM:274150
Ohdo Syndrome
Proteinuria OMIM:249620
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Abdominal pa... ORPHA:90068
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclero... OMIM:242900
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria OMIM:618886
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Flexion contracture, Nephrotic syndrome, Heavy p... ORPHA:505248
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Nephropathy, Proteinuria, Weakness of facial musculature ORPHA:247691
Fabry Disease
Fatigue, Glomerulopathy, Renal insufficiency, Proteinuria, Abdominal pain, Hematuria, Nephrotic s... ORPHA:324
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Cam... OMIM:617729
Lethal Congenital Contracture Syndrome 10
Macroglossia, Increased variability in muscle fiber diameter, Torticollis OMIM:617022
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... ORPHA:411629
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... ORPHA:99885
Spondyloenchondrodysplasia
Proteinuria, Chronic kidney disease, Hematuria, Myalgia, Lower limb pain ORPHA:1855
Gaucher Disease Type 1
Hematuria, Proteinuria, Bone pain, Abdominal pain ORPHA:77259
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Encephalitis Lethargica
Lethargy, Bradycardia ORPHA:83600
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Flexion contracture, Renal cyst, Nephrotic syndrome, Proximal tubulopathy OMIM:212065
Glycogen Storage Disease Ib
Proteinuria, Hypoglycemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... OMIM:232220
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... OMIM:251300
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Episodic abdominal pai... ORPHA:447
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:86818
Granulomatosis With Polyangiitis
Fatigue, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Abdominal pain, Hem... ORPHA:900
Tubulointerstitial Nephritis And Uveitis Syndrome
Fatigue, Abdominal pain, Flank pain, Ocular pain, Renal neutrophilic tubulitis, Renal interstitia... ORPHA:91500
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Congenital diaphragmatic hernia, Ectopic kidney, Abnormal renal morphol... OMIM:122470
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula ORPHA:2728
Immunoglobulin A Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Abdominal pain, Hematuria, Arthralgia, Myalgia ORPHA:761
Agel Amyloidosis
Facial palsy, Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Bradycardia ORPHA:90673
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia OMIM:618775
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Foot joint contracture ORPHA:90321
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux, Abdominal pain OMIM:619377
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Macroglossia, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis OMIM:214100
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Hypoglycemia, Hematuria, Focal segmental glomerulosclerosis, De... OMIM:232240
Proximal Spinal Muscular Atrophy
Inability to walk, Bradycardia, Difficulty walking ORPHA:70
Goodpasture Syndrome
Fatigue, Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Chest pain, Glomerula... OMIM:233450
Gaucher Disease Type 3
Fatigue, Hematuria, Bone pain, Proteinuria ORPHA:77261
Familial Mediterranean Fever
Proteinuria, Abdominal pain, Nephrocalcinosis, Nephrotic syndrome, Chest pain, Arthralgia, Myalgi... ORPHA:342
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Mild proteinuria OMIM:619147
D-Glyceric Aciduria
Bradycardia OMIM:220120
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria OMIM:619685
Wagro Syndrome
Nephroblastoma, Proteinuria OMIM:612469
Martin-Probst Syndrome
Renal insufficiency, Micropenis, Chordee, Proteinuria OMIM:300519
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Campt... OMIM:309000
Lysinuric Protein Intolerance
Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f... ORPHA:470
Infection-Related Hemolytic Uremic Syndrome
Fatigue, Anuria, Diabetes mellitus, Abdominal pain, Oliguria, Abdominal cramps, Acute kidney inju... ORPHA:544482
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria, Abdominal pain OMIM:300908
Holoprosencephaly
Hypoplasia of penis, Diabetes mellitus, Proteinuria, Hypoglycemia, Congenital diaphragmatic herni... ORPHA:2162
Pierson Syndrome
Diffuse mesangial sclerosis, Skeletal muscle atrophy, Proteinuria, Stage 5 chronic kidney disease... OMIM:609049
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria OMIM:610965
Cockayne Syndrome
Skeletal muscle atrophy, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinen... ORPHA:191
Kawasaki Disease
Fatigue, Proteinuria, Abdominal pain, Sterile pyuria, Arthralgia ORPHA:2331
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis OMIM:208500
Aymé-Gripp Syndrome
Proteinuria, Congenital diaphragmatic hernia, Camptodactyly ORPHA:1272
Sepsis In Premature Infants
Tachycardia, Bradycardia, Hypotension ORPHA:90051
Imerslund-Gräsbeck Syndrome
Proteinuria ORPHA:35858
Postinfectious Vasculitis
Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Abdominal pain, Night ... ORPHA:48435
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... ORPHA:534
Gaucher Disease
Fatigue, Proteinuria, Abdominal pain, Bone pain, Hematuria, Arthralgia, Arthrogryposis multiplex ... ORPHA:355
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Hypoglycemia, Nephrolithiasis, Stage 5 chronic kidney disease, Hypoglycemic seizures... ORPHA:79259
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Bradycardia ORPHA:90674
Lujo Hemorrhagic Fever
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... ORPHA:99827
Relapsing Polychondritis
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthralgia, Gangrene ORPHA:728
Pearson Syndrome
Renal insufficiency, Diabetes mellitus, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria ORPHA:699
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria OMIM:194380
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... ORPHA:904
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Mandibuloacral Dysplasia Progeroid Syndrome
Proteinuria, Flexion contracture, Focal segmental glomerulosclerosis, Glucose intolerance, Left v... OMIM:619127
Cockayne Syndrome A
Hip contracture, Renal insufficiency, Micropenis, Proteinuria OMIM:216400
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... ORPHA:99826
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Anuria, Acute kidney injury, Abdominal pain ORPHA:90038
Bardet-Biedl Syndrome 20
Micropenis, Proteinuria OMIM:619471
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Bradycardia OMIM:218700
Systemic Lupus Erythematosus
Hematuria, Proteinuria, Lupus nephritis, Pyuria ORPHA:536
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis ORPHA:2750
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Type I diabetes mellitus, Moderate albuminuria, Hydronephrosis OMIM:619269
Cockayne Syndrome B
Renal insufficiency, Micropenis, Proteinuria OMIM:133540
Orofaciodigital Syndrome I
Proteinuria, Polycystic kidney dysplasia OMIM:311200
Bohring-Opitz Syndrome
Inability to walk, Bradycardia ORPHA:97297
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... OMIM:614748
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Bradycardia ORPHA:226307
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Bradycardia OMIM:617248
Yellow Fever
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... ORPHA:99829
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Encopresis, Proteinuria OMIM:616682
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Fatigue, Abnormal penis morphology, Dysuria, Vulvodynia, Renal tubular epithelial necrosis, Hemat... ORPHA:95455
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Diabetes mellitus, Moderate albuminuria OMIM:614231
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Congenital Disorder Of Glycosylation, Type Iiw
Type I diabetes mellitus, Moderate albuminuria, Membranoproliferative glomerulonephritis, Microsc... OMIM:619525
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Pmm2-Cdg
Multiple joint contractures, Proteinuria, Insulin resistance, Hyperinsulinemia, Nephrotic syndrom... ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pygm

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pygm.

No publications found that use IMPC mice or data for Pygm.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pygmtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Pygmem1(IMPC)J Exon Deletion Mice
Pygmtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pygmtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pygmtm45980(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pygmtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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