Gene Summary

Name:
cystathionase (cystathionine gamma-lyase)
Synonyms:
0610010I13Rik,  CSE

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal lens morphology Cthtm1b(EUCOMM)Hmgu HOM Early adult 3.82×10-07
abnormal retina morphology Cthtm1b(EUCOMM)Hmgu HOM   Early adult 3.70×10-05
decreased exploration in new environment Cthtm1b(EUCOMM)Hmgu HOM   Early adult 9.66×10-05

Download data as:  TSV  XLS

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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.

Electrocardiogram (ECG)

Waveform Image

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

6 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cystathioninuria
Tremor, Nephrolithiasis, Cystathioninuria, Cystathioninemia ORPHA:212
Cystathioninuria
Cystathioninuria OMIM:219500

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertension, Essential
Elevated diastolic blood pressure, Elevated systolic blood pressure, Elevated mean arterial pressure OMIM:145500
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Elevated circulating creatine kinase concentration, In... OMIM:617158
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Bardet-Biedl Syndrome 18
Retinal dystrophy, Cognitive impairment, Cataract, Rod-cone dystrophy OMIM:615995
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Myopathy, Increased muscle lipid content, Short stature, Elevated circulating creat... OMIM:610717
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy OMIM:618220
Saccharopinuria
Short stature, Saccharopinuria, Citrullinuria, Spastic diplegia, Hyperlysinuria, Histidinuria, El... OMIM:268700
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hyperlipidemia, Increased hepatic glycogen content, H... OMIM:232700
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Saccharopinuria
Hypercystinemia, Short stature, Cystinuria, Abnormality of circulating enzyme level, Hyperammonem... ORPHA:3124
Gracile Syndrome
Increased serum iron, Intrauterine growth retardation, Increased circulating ferritin concentrati... OMIM:603358
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Z-band streaming, Elevated circulating creatine kinase concentration, Internally nucleated skelet... OMIM:618655
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Renal Failure, Progressive, With Hypertension
Hypertension, Elevated circulating creatinine concentration OMIM:161900
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Threoninemia
Hyperthreoninemia, Hyperthreoninuria, Growth delay OMIM:273770
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Elevated circulating cre... OMIM:601954
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Elevated circulating creatine kinase concentratio... OMIM:609560
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Highly elevated creatine kinase, Muscle fiber necrosis, ... OMIM:618848
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... OMIM:610202
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Galactosemia Iii
Hepatomegaly, Hypergalactosemia, Failure to thrive, Splenomegaly, Aminoaciduria, Galactosuria, Ja... OMIM:230350
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Elevated circulating cre... ORPHA:178464
Pentosuria
Abnormality of circulating enzyme level, Abnormal urine carbohydrate level, Abnormal circulating ... ORPHA:2843
Distal Myopathy, Tateyama Type
Clumsiness, Abnormal circulating creatine kinase concentration, Weakness of the intrinsic hand mu... ORPHA:488650
Hyperprolinemia, Type Ii
Hyperprolinemia, Hydroxyprolinuria, Prolinuria, Hyperglycinuria OMIM:239510
Hyper-Beta-Alaninemia
Failure to thrive, Hyperbeta-alaninemia, Increased urinary taurine OMIM:237400
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentration, Autophagic vac... ORPHA:266
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, Elevated circulating creatine kinase concentration, EMG: myopathi... OMIM:618940
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Musc... OMIM:616516
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... OMIM:616468
Valinemia
Failure to thrive, Hypervalinemia, Hyperkinetic movements, Valinuria OMIM:277100
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... OMIM:193230
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Elevated cir... ORPHA:611
Glycogen Storage Disease Ixa1
Hepatomegaly, Growth delay, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... OMIM:306000
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Carnosinuria, Muscular dystrophy OMIM:309930
Coats Disease
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... ORPHA:190
Dent Disease 2
Short stature, Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tub... OMIM:300555
Hyperprolinemia, Type I
Prolinuria, Hydroxyprolinuria, Stereotypy, Hyperprolinemia, Ataxia, Hyperglycinuria OMIM:239500
Nonaka Myopathy
Elevated circulating creatine kinase concentration, EMG: myopathic abnormalities, Rimmed vacuoles... OMIM:605820
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypertriglyceridemia, Short stature ORPHA:366
Hyperprolinemia Type 1
Hyperprolinemia, Proteinuria, Prolinuria, Nephropathy ORPHA:419
Tibial Muscular Dystrophy
Clumsiness, Proximal muscle weakness in lower limbs, Myopathy, Peroneal muscle atrophy, Increased... ORPHA:609
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Congenital... OMIM:613204
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:300717
Preeclampsia
Intrauterine growth retardation, Small for gestational age, Elevated hepatic transaminase, Elevat... ORPHA:275555
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Skeletal muscle atrophy, Methylmalonic aciduria, Short stature, Elevated circulating cr... ORPHA:1933
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Myoclonus, Tremor, Ataxia, Hypertriglyceridemia, Tetraparesis, Spasticity, Abnormal... OMIM:615924
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Lacticaciduria, Elevated circulating creatine kinase concentration, Pancreatitis... OMIM:619386
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentration, Shoulder girdl... OMIM:254110
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Hyperhomocystinemia, Homocystinuria, Incoordination OMIM:236250
Muscular Dystrophy, Congenital, Merosin-Positive
Myopathy, Facial palsy, Mildly elevated creatine kinase, Shoulder girdle muscle weakness, Congeni... OMIM:609456
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Hypertriglyceridemia, Splenomegaly OMIM:619175
Distal Myopathy, Welander Type
Clumsiness, Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Mildly elevated... ORPHA:603
Norrie Disease
Optic atrophy, Dementia, Retinal fold, Shallow anterior chamber, Retinal dysplasia, Hypoplasia of... OMIM:310600
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Hepatocellular carcinoma, Ballooning hepatocyte degeneration, Argininosuccinic ... OMIM:603471
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Elevated circulating cre... OMIM:609115
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Small for gestational age, Renal dysplasia, Elevated circulating... OMIM:616733
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Hypertriglyceride... OMIM:614480
Myopathy, Distal, 5
Myopathy, Facial palsy, Mildly elevated creatine kinase, Rimmed vacuoles, Distal amyotrophy, Musc... OMIM:617030
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... ORPHA:179
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Babinski sign, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weak... OMIM:613954
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Limb muscle weakness, Elevated circulating creatine kinase concen... OMIM:619473
Alpha-B Crystallin-Related Late-Onset Myopathy
Abnormal circulating creatine kinase concentration, Autophagic vacuoles, Facial diplegia, EMG: my... ORPHA:399058
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Hypoargininemia, Episodic ammonia intoxication, Hyperammonemia ORPHA:147
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Babinski sign, Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Frequent falls, Elevate... OMIM:616924
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Nemaline Myopathy 2
Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Frequent fall... OMIM:256030
Argininemia
Progressive spastic quadriplegia, Hemiplegia/hemiparesis, Diaminoaciduria, Hyperammonemia ORPHA:90
Hypokalemic Periodic Paralysis
Paralysis, Abnormal muscle fiber morphology, Episodic hypokalemia, Increased intramyocellular lip... ORPHA:681
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Elevated circulating creatine kinase concentration, Rimmed vacuoles, Limb-girdle muscul... OMIM:612937
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Bethlem Myopathy 2
Myopathy, Elevated circulating creatine kinase concentration, Increased variability in muscle fib... OMIM:616471
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Intrauterine growth retardation, Failure to thrive, Cirrhosis, ... OMIM:617156
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... OMIM:160565
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Elevated circulating creatine kinase concentration, EMG: myopathic abnormalities, Muscular dystro... OMIM:253601
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Ataxia, Distal amyotrophy, Hypoalbuminemia OMIM:607250
Paragangliomas 6
Hypertension OMIM:618464
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Elevated circulating creatine kinase concentration, Proximal muscle weakness in lower limbs, Myop... ORPHA:1878
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Hyperlysinuria With Hyperammonemia
Growth delay, Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria, Hyperlysinemia OMIM:238750
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Spastic dysarthria, Hypercholesterolemia, Ataxia, Distal amyotrophy, Distal lowe... ORPHA:94124
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy ORPHA:90654
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Elevated circulating creatinine con... ORPHA:567544
Adult-Onset Nemaline Myopathy
Myopathy, Increased muscle lipid content, Bradykinesia, Mildly elevated creatine kinase, EMG: myo... ORPHA:171442
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Short stature, Nephrocalcinosis, Proxi... OMIM:308990
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Growth delay, Failure to thrive... OMIM:251880
Morm Syndrome
Retinal dystrophy, Aggressive behavior, Cataract, Retinal atrophy ORPHA:75858
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Hyperlipidemia, Stage 5 chronic kidney di... OMIM:600995
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... OMIM:180104
Galactosemia I
Hepatomegaly, Hypergalactosemia, Increased level of galactitol in urine, Failure to thrive, Incre... OMIM:230400
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Shallow anterior chamber, Tractional retinal detachment, Retinal exu... OMIM:613310
Galactose Epimerase Deficiency
Hepatomegaly, Growth delay, Weight loss, Splenomegaly, Aminoaciduria, Jaundice ORPHA:79238
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Portal fibrosis, Splenomegaly, Hepatic fibrosis, Increased sarcoplasmic glycogen, Hepatocellular ... ORPHA:370
Coach Syndrome 2
Portal fibrosis, Hepatic fibrosis, Elevated hepatic transaminase, Congenital hepatic fibrosis, El... OMIM:619111
Lysine Malabsorption Syndrome
Hyperlysinuria, Renal tubular lysine transport defect, Growth delay OMIM:247950
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:300718
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Short stature, Increased LDL cholesterol c... OMIM:607616
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... OMIM:615703
Rowley-Rosenberg Syndrome
Hypertension, Aminoaciduria, Pulmonary arterial hypertension OMIM:268500
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Cataract, Peripapillary atrophy, Macular degeneration OMIM:618195
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Growth delay, Positive ferric chloride test OMIM:229100
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... ORPHA:98863
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation OMIM:614292
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Acute kidney injury, Mic... ORPHA:54370
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... ORPHA:98853
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Pelvic girdle muscle weakness, Frequent falls, Elevated circulating creatine kinase concentration... OMIM:603689
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy,... OMIM:242530
Hartnup Disorder
Neutral hyperaminoaciduria, Hypertonia, Short stature, Episodic ataxia OMIM:234500
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Cystathioninuria
Tremor, Nephrolithiasis, Cystathioninuria, Cystathioninemia ORPHA:212
Diaminopentanuria
Hyperlysinuria, Ataxia, Cystinuria, Spasticity OMIM:222350
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Distal amyotrophy, Vocal cord paresis OMIM:158580
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612926
Dibasic Amino Aciduria I
Argininuria, Dibasicaminoaciduria, Hyperlysinuria, Ornithinuria OMIM:222690
Proximal Myopathy With Extrapyramidal Signs
Involuntary movements, Central core regions in muscle fibers, Progressive extrapyramidal movement... ORPHA:401768
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:614131
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Retinal detachment, Ca... OMIM:212550
Childhood-Onset Nemaline Myopathy
Clumsiness, Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscl... ORPHA:171439
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Thrombotic Thrombocytopenic Purpura
Hematuria, Decreased serum creatinine, Acute kidney injury, Proteinuria, Renal insufficiency ORPHA:54057
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Jau... ORPHA:247598
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... ORPHA:98855
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia, Skeletal muscle hypertrophy OMIM:613877
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Aminoaciduria, Severe short stature ORPHA:2278
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... OMIM:617609
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... OMIM:274150
Stimmler Syndrome
Ataxia, Aminoaciduria, Intrauterine growth retardation, Short stature ORPHA:3199
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease, Hypoalbuminem... OMIM:603278
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hepatomegaly, Generalized aminoaciduria, Growth delay, Hepatocellular carcinom... ORPHA:2088
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Myopathy, Poor motor coordination, Myoclonus, Tremor, Ataxia, Cirrhosis, Hepatic st... ORPHA:363400
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:615573
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Pelvic girdle muscle weakness, Myoglobinuria, Skeletal muscle atrophy, Hepatic fibr... ORPHA:79240
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Growth delay, Failure to thrive, Hyperbilirubinemia, Hyp... OMIM:605814
Hypertryptophanemia
Hypertryptophanemia, Tryptophanuria, Camptodactyly of finger OMIM:600627
Glycerol Kinase Deficiency
Myopathy, Growth delay, Small for gestational age, Short stature, Muscular dystrophy, Increased u... OMIM:307030
Temple Syndrome
Intrauterine growth retardation, Small for gestational age, Short stature, Truncal obesity, Hyper... OMIM:616222
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Elevated urinary N,N-dimethylglycine level, E... OMIM:605850
Glycosylphosphatidylinositol Biosynthesis Defect 17
Growth delay, Hypertriglyceridemia OMIM:618010
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Camptodactyly of toe, Camptodactyly of finger, Increased urinary taurine ORPHA:1325
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Short stature, Splenomegaly ORPHA:417
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Athetosis, Methylmalonic acidemia, Methylmalonic aciduria, Elevated circulating creatine kinase c... OMIM:612073
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Portal fibrosis, Short stature, Splenomegaly, Hepatic fibrosis, Increased sarcoplasmic glycogen, ... ORPHA:264580
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Polyuria, Periglom... OMIM:619468
Severe X-Linked Mitochondrial Encephalomyopathy
Involuntary movements, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, T... ORPHA:238329
Leber Congenital Amaurosis 1
Hepatomegaly, Growth delay, Hyperthreoninuria, Hyperthreoninemia, Eye poking OMIM:204000
Sarcosinemia
Hypersarcosinuria, Hypersarcosinemia, Ataxia, Tetraparesis, Peroneal muscle weakness ORPHA:3129
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Abnormality of ext... ORPHA:79233
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy, Aminoaciduria, Severe short stature OMIM:204730
Camptodactyly 1
Camptodactyly of finger, Increased urinary taurine OMIM:114200
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Proximal tubulopathy, Weight loss, Aminoaciduria, Gait ataxia OMIM:612075
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Myopathy, Mildly elevated creatine kinase, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnor... OMIM:615424
Cystinosis
Portal hypertension, Myopathy, Renal tubular dysfunction, Hypokalemia, Short stature, Failure to ... ORPHA:213
C3 Glomerulopathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Hematuria, Stage 5 chronic kid... ORPHA:329918
Rajab Interstitial Lung Disease With Brain Calcifications 2
Decreased muscle mass, Short stature, Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia... OMIM:619013
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Frequent falls, Elevated circulating creatine kinase concentration, Macroglossia, Achilles tendon... ORPHA:353
Retinitis Pigmentosa 2
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Glutamate-Cysteine Ligase Deficiency
Myopathy, Ataxia, Hepatosplenomegaly, Aminoaciduria, Jaundice ORPHA:33574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Highly elevated creatine kinase, Myopathy, Increased ... OMIM:618992
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly, Hepatic failure, Hyperammonemia ORPHA:664
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Phakodonesis, Iris hypoperfusion, Retinal v... OMIM:177650
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia, Severe short-limb dwarfism ORPHA:436182
Mitochondrial Myopathy, Infantile, Transient
Hepatomegaly, Increased muscle lipid content, Muscle fiber hypertrophy, Ragged-red muscle fibers,... OMIM:500009
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria OMIM:242600
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria ORPHA:42062
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Growth delay,... ORPHA:567548
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... ORPHA:247585
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Elevated circulating creatine kinase concentration, Inte... OMIM:618138
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Hepatomegaly, Short stature, Nephrocalcinosis, Glycosuria, Large... OMIM:616026
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Frequent falls, Elevated circulating creatine kinase concentrat... ORPHA:75840
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Lipodystrophy, Familial Partial, Type 7
Babinski sign, Clonus, Dysmetria, Pancreatitis, Hypercholesterolemia, Hypertriglyceridemia, Gait ... OMIM:606721
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:618349
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis OMIM:615238
Alg6-Cdg
Failure to thrive, Macroglossia, Abnormality of the liver, Ataxia, Hypoalbuminemia, Decreased LDL... ORPHA:79320
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Choreoathetosis, Distal amyotrophy, Hypercholesterolemia, Tremor, Oculomotor apraxia, Ataxia, Tru... OMIM:208920
Microspherophakia With Hernia
Retinal detachment, Microspherophakia, Superior lens subluxation OMIM:157150
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy OMIM:304030
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Anuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome,... OMIM:235400
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Vocal cord paralysis, Facial palsy, Distal amyotrophy, Lower limb muscle we... OMIM:607641
Hsd10 Disease
Rigidity, Abnormal urinary acylglycine profile, Choreoathetosis, Myoclonus, Tremor, Ataxia, Postn... ORPHA:391417
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
D-Glyceric Aciduria
Opisthotonus, Nonketotic hyperglycinemia, Growth delay, Failure to thrive, Myoclonus, Spastic tet... OMIM:220120
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Pleoconial Myopathy With Salt Craving
Paralysis, Proximal amyotrophy, Myopathy OMIM:262900
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Elevated circulating creatine kinas... ORPHA:86812
Argininosuccinic Aciduria
Oroticaciduria, Short stature, Hyperglutaminemia, Hypoargininemia, Hyperammonemia, Ataxia, Aminoa... ORPHA:23
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, J... OMIM:603552
Chylomicron Retention Disease
Growth delay, Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Steatorrhea, Hypoalbum... OMIM:246700
Glycine Encephalopathy
Myoclonus, Hyperglycinuria, Hyperglycinemia OMIM:605899
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis, Distal lower limb muscle weakness OMIM:608634
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy... OMIM:603075
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Hypoalbumine... ORPHA:84090
Cataract 16, Multiple Types
Posterior polar cataract, Retinal dystrophy, Developmental cataract OMIM:613763
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Rigidity, Elevated circulating creatine kinase concentration, Generaliz... OMIM:258450
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis, Elevated urinary delta-aminolevulinic acid, Failure to thrive OMIM:612740
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Intrauterine growth retardation, Failure to thrive, Patent ductus arteriosus, Decre... OMIM:608104
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Short stature, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenom... OMIM:612526
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Galloway-Mowat Syndrome 6
Short stature, Nephrotic syndrome, Hypoalbuminemia, Decreased body weight, Proteinuria OMIM:618347
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis, Distal lower limb muscle weakness OMIM:158590
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Athetosis, Methylmalonic acidemia, Methylmalonic aciduria, Short stature, Failure to thrive, Chor... OMIM:309541
Glycogen Storage Disease Iii
Hepatomegaly, Myopathy, Hepatic fibrosis, Hyperlipidemia, Short stature, Elevated circulating cre... OMIM:232400
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Tendon xanthomatosis, Hypertrigly... OMIM:603813
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... OMIM:617114
Argininemia
Hepatomegaly, Oroticaciduria, Portal fibrosis, Frequent falls, Spastic gait, Micronodular cirrhos... OMIM:207800
Congenital Primary Aphakia
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... ORPHA:83461
Retinal Dystrophy And Obesity
Retinal dystrophy, Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment,... OMIM:616188
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria OMIM:245900
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Hypoproteinemia, Growth delay, Hyperlipidemia, Small for gestational age, ... OMIM:256300
Lethal Congenital Contracture Syndrome 7
Paralysis, Skeletal muscle atrophy, Facial diplegia, Arthrogryposis multiplex congenita, Knee fle... OMIM:616286
Retinitis Pigmentosa 13
Cystoid macular edema, Hypopigmentation of the fundus, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Hepatic failur... ORPHA:75234
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hypertriglyceridemia, Calf muscle hypertrophy, Hepatic fibrosis ORPHA:280356
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Patent d... OMIM:616000
Cystinuria
Ornithinuria, Cystinuria, Nephrolithiasis, Recurrent urinary tract infections, Argininuria, Hyper... OMIM:220100
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Hematuria, Elevated circulating C-reactive pr... ORPHA:231111
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Contractures of the joints of the lower limbs, Skeletal muscle atrophy OMIM:613710
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, Ataxia, Hy... ORPHA:71277
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa... ORPHA:882
Homocarnosinosis
Spastic paraplegia, Carnosinuria OMIM:236130
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypertension, Congestive heart failure OMIM:614473
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Myopathy, Abnormal circulating creatine kinase concentration, Short stature, Increa... ORPHA:98907
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Reversible renal failure, Acute tubulointerstitial... OMIM:607665
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Babinski sign, Urinary bladder sphincter dysfunction, Choreoathetosis, Elevated ... ORPHA:64753
Oculopharyngeal Muscular Dystrophy
Myopathy, Ragged-red muscle fibers, Abnormal muscle fiber morphology, Elevated circulating creati... ORPHA:270
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Upper limb amyotrophy, Triceps weakness, Elevated circulating creatine kina... ORPHA:437572
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Portal fibrosis, Hyperlipidemia, Increased hepatic glycogen content, Failure to thr... ORPHA:369
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, Mildly elevated creatine ki... ORPHA:486815
Tiglic Acidemia
Aminoaciduria OMIM:275190
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Arrhythmia ORPHA:1345
Glut1 Deficiency Syndrome 1
Paralysis, Babinski sign, Choreoathetosis, Myoclonus, Hemiparesis, Ataxia, Spasticity OMIM:606777
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, Short stature, Elevated circulating creatine kinase concen... ORPHA:52430
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Short stature, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hyp... OMIM:613388
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Short stature, Hypophosphatemia, Glycosur... OMIM:134600
Neutral Lipid Storage Myopathy
Hepatomegaly, Pelvic girdle muscle weakness, Abnormal circulating creatine kinase concentration, ... ORPHA:98908
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Hyperhomocystinemia, Hypomethioninemia, Poor coordination, Failure to thrive, Homocystinuria OMIM:250940
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
3-Hydroxyisobutyric Aciduria
Failure to thrive, Aminoaciduria OMIM:236795
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyc... OMIM:300635
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Carnosinemia
Carnosinuria OMIM:212200
Cryoglobulinemia, Familial Mixed
Hypertension, Elevated circulating creatinine concentration OMIM:123550
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased L... OMIM:267700
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Generalized aminoaciduria, Renal tubular dysfunction OMIM:606528
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Liddle Syndrome 3
Hypertension OMIM:618126
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myopathy, Myoglobinuria, Pelvic girdle muscle weakness, Elevated circulating creatine kinase conc... ORPHA:119
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Hydroxykynureninuria
Aminoaciduria, Renal tubular dysfunction, Hypertonia OMIM:236800
Tyrosinemia, Type I
Renal Fanconi syndrome, Hepatomegaly, Elevated urinary delta-aminolevulinic acid, Hepatocellular ... OMIM:276700
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Proximal muscle weakness in lower limbs, Hyperlipidemia, Elevated circulating creat... ORPHA:435660
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Methionine Malabsorption Syndrome
Aminoaciduria, Positive ferric chloride test OMIM:250900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Hepatomegaly, Chronic tubulointerstitial nephritis, Short stature, Elevated cir... OMIM:614376
Lysosomal Acid Lipase Deficiency
Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Portal hypertension, Decreased HDL ... OMIM:278000
Glycogen Storage Disease Ixc
Hepatomegaly, Growth delay, Increased hepatic glycogen content, Bile duct proliferation, Splenome... OMIM:613027
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria OMIM:204750
Retinitis Pigmentosa 77
Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy, Posterior subcapsular cataract OMIM:617304
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Retinitis Pigmentosa 50
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... OMIM:613194
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Paralysis, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Distal amyotrophy, Gait... OMIM:606183
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Membranous nephropathy, Elevated c... ORPHA:49041
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Failure to thrive in infancy, Short stature, Myoclonus, Increased intramyocellular... OMIM:619065
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal amyotrophy, Hyperlipidemia, Hand tremor, Mildly elevated creatine kinase, Fasciculations... OMIM:604484
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Myopathy, Skeletal muscle atrophy, Failure to thrive, Cirrhosis, Decreased liver fu... ORPHA:367
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Hepatomegaly, Myopathy, Decreased HDL cholesterol concentration, Tubuloint... ORPHA:85450
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Aicardi-Goutieres Syndrome 9
Micropenis, Hepatosplenomegaly, Acute pancreatitis, Portal hypertension, Intrauterine growth reta... OMIM:619487
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hepatic cysts, Stage 5 chronic kidney disease, Rec... OMIM:613095
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:610725
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Growth delay, Hepatocellular carcinoma, Elevated circulating creatine kinase... ORPHA:88618
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Thin glomerular basement membrane, Hypoalbuminemia, Chronic kidney disease, D... OMIM:615244
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Short stature, Myoclonus, Increased blood urea nitrogen, Me... ORPHA:251004
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Clonus, Intrauterine growth retardation, Small for gestational age, Elevated circulating creatine... OMIM:619055
2P21 Microdeletion Syndrome
Growth delay, Failure to thrive, Nephrolithiasis, Cystinuria, Hypocalcemia ORPHA:163693
Butyrylcholinesterase Deficiency
Paralysis, Abnormality of the liver ORPHA:132
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Elevated circulating... OMIM:618805
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Cortical cataract, Retinal pigment ep... OMIM:618613
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... OMIM:614196
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Short stature, Increased variability in muscle fiber diameter, Distal amyotrophy... OMIM:619042
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Ataxia, M... OMIM:617575
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Hypertriglyceridemia ORPHA:71529
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dysmetria, Ataxia, Aminoaciduria, Myoclonus OMIM:250620
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, M... ORPHA:79083
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Cirrhosis, Hepatic failure, Hypoalbuminemia OMIM:602579
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Torticollis, Failure to thrive, Slender build, Generalized amyotrophy... OMIM:254090
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
Myopathic Ehlers-Danlos Syndrome
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... ORPHA:536516
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Glutathione Synthetase Deficiency
Spastic tetraparesis, Ataxia, Increased level of L-pyroglutamic acid in urine, Intention tremor OMIM:266130
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Myopathy, EMG: myopathic abnormalities, Mildly elevated creatine kinase, Tremor, Increased variab... ORPHA:397744
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... OMIM:601813
Lcat Deficiency
Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Stage 5 chronic ki... ORPHA:650
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Periodic paralysis, Hypokalemia OMIM:613345
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine, Atax... OMIM:271980
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatocellular carcinoma, Abnormal renal physiology, Hyperbilirubinemia, Splenomegaly, Increased ... ORPHA:158057
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertriglyceridemia, Splenomegaly OMIM:613101
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Growth delay, Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerula... OMIM:223900
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma ORPHA:35737
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Wilson Disease
Hyperphosphaturia, Hepatomegaly, Renal tubular dysfunction, Poor motor coordination, Hepatocellul... OMIM:277900
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia OMIM:246650
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Hyperglycinem... ORPHA:470
Phenylketonuria
Aminoaciduria ORPHA:716
Congenital Generalized Lipodystrophy
Hepatomegaly, Skeletal muscle hypertrophy, Failure to thrive, Macroglossia, Hypercholesterolemia,... ORPHA:528
5-Oxoprolinase Deficiency
Prolinuria, Increased level of L-pyroglutamic acid in urine, Calcium oxalate nephrolithiasis OMIM:260005
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hepatomegaly, Weakness of f... OMIM:220110
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Macular Dystrophy, Retinal, 1, North Carolina Type
Generalized aminoaciduria OMIM:136550
Acute Peripheral Arterial Occlusion
Paralysis, Limb muscle weakness ORPHA:90064
Gitelman Syndrome
Paralysis, Growth delay, Hypokalemia, Failure to thrive, Rhabdomyolysis, Hypomagnesemia, Hypocalc... OMIM:263800
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Raynaud phenomenon OMIM:615750
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hepatomegaly, Failure to th... ORPHA:436271
Sialidosis Type 1
Skeletal muscle atrophy, Short stature, Myoclonus, Urinary excretion of sialylated oligosaccharid... ORPHA:812
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hyponatremia, Myopathy, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Hypok... ORPHA:682
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Aminoa... OMIM:618913
Variegate Porphyria
Paralysis, Porphyrinuria OMIM:176200
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Myoclonus, Growth delay OMIM:614946
Retinal Detachment
Retinal detachment OMIM:180050
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Failure to thrive, Hyperhomocystinemia, Homocystinuria, Hypomethioninemia OMIM:236270
Relapsing Fever
Abnormality of the urinary system, Elevated circulating creatinine concentration, Hematuria, Incr... ORPHA:91547
Snakebite Envenomation
Paralysis, Hyponatremia, Pseudobulbar paralysis, Respiratory paralysis, Acute kidney injury, Musc... ORPHA:449285
Thyrotoxic Periodic Paralysis
Hyperkalemia, Paralysis, Abnormal muscle fiber morphology, Episodic hypokalemia, Urinary retentio... ORPHA:79102
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Argininosuccinic Aciduria
Hepatomegaly, Oroticaciduria, Hepatic fibrosis, Hyperglutaminemia, Failure to thrive, Hypoarginin... OMIM:207900
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Elevated circulating creatinine concentration, Decreased glomerular filtration ... ORPHA:730
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Growth delay, Short stature, Elevated hepatic transaminase, Hyperbili... ORPHA:1667
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Azotemia, Familial
Azotemia OMIM:109160
Autoinflammation With Infantile Enterocolitis
Short stature, Failure to thrive, Splenomegaly, Increased circulating ferritin concentration, Hyp... OMIM:616050
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption ORPHA:2158
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Microscopic hematuria, Chronic kidney disease, Hyponatremia, Hypocalcemic tetan... ORPHA:411634
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, In... OMIM:603553
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Retinal atrophy OMIM:616722
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, P... ORPHA:2348
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Hepatomegaly, Failure to thrive, Lower limb spasti... ORPHA:90321
Smith-Magenis Syndrome
Short stature, Abnormality of the urinary system, Stereotypy, Hypercholesterolemia, Hypertriglyce... OMIM:182290
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:616730
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:656
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Renal cortical cysts, Hepatomegaly, Generalized aminoaciduria, Proximal tu... OMIM:231680
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Marked muscular hypertrophy, Pancreatitis, Hepatic steatosis, Hyper... ORPHA:435651
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Chorea, Myoclonus, Hyperglycinemia, Increased circulating free fatty ... ORPHA:941
Isolated Aniridia
Aplasia/Hypoplasia of the macula, Cataract, Peters anomaly, Aniridia ORPHA:250923
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia, Congestive heart failure ORPHA:225
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Nephrocalcinosis, E... ORPHA:1652
Dopamine Beta-Hydroxylase Deficiency
Nocturia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Elevated ... ORPHA:230
Macrophage Activation Syndrome
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Increased circulating ferritin c... ORPHA:158061
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Decreased liver function, Hypoalbuminemia, Por... ORPHA:79319
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Intrauterine growth retardation, Elevated circulating long chain fatty acid concent... OMIM:214110
Multiple Mitochondrial Dysfunctions Syndrome 1
Hypertension, Pulmonary arterial hypertension OMIM:605711
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Small for gestati... ORPHA:2260
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Renal tubular acidosis, Periodic hypokalemic paresis, Periodic paralysis, Postn... OMIM:179800
Dent Disease 1
Hyperphosphaturia, Short stature, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephr... OMIM:300009
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia OMIM:608600
Distal Renal Tubular Acidosis
Paralysis, Hyperphosphaturia, Growth delay, Hypokalemia, Nephrocalcinosis, Failure to thrive, Pro... ORPHA:18
Xp21 Deletion Syndrome
Decreased muscle mass, Myopathy, Growth delay, Elevated circulating creatine kinase concentration... ORPHA:261476
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hyperuricemia, Cirrhosis, Hepatic steatosis, Hypertrigly... OMIM:604367
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Increased muscle lipid content, Elevated circulating... ORPHA:228302
Familial Cervical Artery Dissection
Hypertension, Recurrent cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Subara... ORPHA:36382
Alg1-Cdg
Nephrotic syndrome, Decreased liver function, Hypoalbuminemia, Renal insufficiency, Abnormality o... ORPHA:79327
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hyperphosphaturia, Calcinosis, Hepatomegaly, Failure to thrive, Hypophosphatemia, ... OMIM:239200
Hepatoportal Sclerosis
Hepatocellular carcinoma, Hyperbilirubinemia, Nodular regenerative hyperplasia of liver, Splenome... ORPHA:64743
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Short stature, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Front... OMIM:300580
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperammonemia, Cirrhosis, Hepatic steatosis, ... OMIM:615486
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Skeletal muscle hypertrophy, Elevated circulating creatine kinase concentration, Fa... OMIM:613327
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Renal tubular dysfunction, Failure to thrive, Glycosuria, Biliary hype... OMIM:210550
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension OMIM:215600
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Cataract 47
Microcornea, Cataract OMIM:612018
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circulating protein conc... ORPHA:103910
Lessel-Kubisch Syndrome
Hypertension OMIM:618681
Lysinuric Protein Intolerance
Hepatomegaly, Oroticaciduria, Skeletal muscle atrophy, Short stature, Failure to thrive, Stage 5 ... OMIM:222700
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi... OMIM:227810
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Opisthotonus, Skeletal muscle atrophy, Failure to thrive, Acute hyperammonemia, Hyperglycinuria, ... OMIM:210210
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal p... ORPHA:67043
Histidinemia
Hyperhistidinemia, Histidinuria OMIM:235800
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Decreased muscle mass, Myoglobinuria, Viral infection-induced rhabdomyolysis, Growt... ORPHA:57
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Nephrotic syndrome, Hypocholesterolemia, Proximal tubulopathy, Fa... OMIM:212065
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... ORPHA:209902
Tyrosinosis
Hypertyrosinemia OMIM:276800
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cholangitis, Ragged-red muscle fibers, Tubulointerstitial nephr... OMIM:124000
Horner Syndrome, Congenital
Paralysis OMIM:143000
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia, Xanthinuria, Increased urinary thiosulfate, Absent urinary urothione, Increased uri... OMIM:252150
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis OMIM:605285
Propionic Acidemia
Hepatomegaly, Limb hypertonia, Short stature, Failure to thrive, Pancreatitis, Hyperglycinemia, H... OMIM:606054
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Congestive heart failure, Wolff-Parkinson-White syndrome, Abnormal left ventricular... OMIM:540000
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Alaninuria, Severe short stature OMIM:202900
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Growth delay, Short stature, Glycosuria, Aminoaciduria, Proteinuria OMIM:615605
Sickle Cell Anemia
Abnormality of the spleen, Unconjugated hyperbilirubinemia, Elevated circulating creatinine conce... ORPHA:232
Myopathy, Mitochondrial, And Ataxia
Growth delay, Short stature, Elevated circulating creatine kinase concentration, Dysmetria, Tremo... OMIM:617675
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Myofibrillar Myopathy 11
Z-band streaming, Shoulder girdle muscle atrophy, Generalized amyotrophy, EMG: myopathic abnormal... OMIM:619178
Pseudohypoaldosteronism Type 2
Hyperkalemia, Periodic paralysis, Growth delay, Short stature ORPHA:757
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma, Ataxia, Hypertriglyce... OMIM:277460
Diffuse Alveolar Hemorrhage
Hematuria, Weight loss, Elevated circulating creatinine concentration, Proteinuria ORPHA:90060
Immunodeficiency 27A
Weight loss, Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia OMIM:209950
Leigh Syndrome
Ethylmalonic aciduria, Multiple joint contractures, Renal tubular dysfunction, Lacticaciduria, Co... ORPHA:506
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Hypokalemia, Increased urinary pot... ORPHA:3337
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Leishmaniasis
Hepatomegaly, Weight loss, Splenomegaly, Hypoalbuminemia, Elevated hepatic transaminase ORPHA:507
Canavan Disease
Increased circulating N-Acetylaspartic acid concentration, Elevated urinary N-acetylaspartic acid... OMIM:271900
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Flexion contracture, Elevated hepatic tran... OMIM:615381
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, El... OMIM:174000
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Abnormal renal physiology, Splenomegaly, Decreased liver function, Increased circul... ORPHA:540
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Retinal dystrophy, Hypoplasia of the retina, Cataract OMIM:263100
Alstrom Syndrome