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Gene: Cth MGI:1339968

Gene Summary

Name:

cystathionine gamma lyase

Synonyms:

0610010I13Rik, CSE

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
abnormal lens morphology	Cth^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.56×10^-07
abnormal retina morphology	Cth^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.83×10^-08
abnormal retina vasculature morphology	Cth^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.25×10^-05
decreased exploration in new environment	Cth^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.62×10^-05
persistence of hyaloid vascular system	Cth^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.82×10^-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

6 Images

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Electrocardiogram (ECG)

Waveform Image

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

5 Images

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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.

Human diseases associated with Cth (2 diseases)
Human diseases predicted to be associated with Cth (1174 diseases)

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

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

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

Disease	Matching phenotypes	Source
Hypertension, Essential	Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure	OMIM:145500
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Saccharopinuria	Citrullinuria, Short stature, Elevated circulating sacchoropine concentration, Histidinuria, Sacc...	OMIM:268700
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Saccharopinuria	Citrullinuria, Short stature, Tremor, Hypercystinemia, Hyperammonemia, Cystinuria, Spastic dipleg...	ORPHA:3124
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul...	OMIM:610717
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri...	OMIM:603358
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k...	OMIM:618655
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Skeletal muscle atrophy, Elevated circulating creatine kinase conc...	OMIM:620138
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Renal Failure, Progressive, With Hypertension	Hypertension, Elevated circulating creatinine concentration	OMIM:161900
Threoninemia	Growth delay, Hyperthreoninuria, Hyperthreoninemia	OMIM:273770
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Highly elevated creatine kinase, Calf muscle hypertrophy, P...	OMIM:618848
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u...	OMIM:617872
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati...	ORPHA:178464
Iminoglycinuria	Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria	ORPHA:42062
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia, Failure to ...	OMIM:230350
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c...	OMIM:619733
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Short stature, Tremor, Growth delay, Decreased serum creatinine, Intrauterine growth retardation,...	OMIM:617744
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat...	OMIM:601954
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperglycinuria, Hyperprolinemia, Prolinuria	OMIM:239510
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Hyper-Beta-Alaninemia	Increased urinary taurine, Failure to thrive, Hyperbeta-alaninemia	OMIM:237400
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb muscle weaknes...	OMIM:609560
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Wagner Vitreoretinopathy	Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju...	OMIM:619868
Retinitis Pigmentosa 40	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo...	OMIM:613801
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ...	OMIM:133780
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se...	OMIM:612736
Inclusion Body Myositis	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe...	ORPHA:611
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Elevated circulating creatine kinase concentration, Facial hypotonia, Fatty ...	ORPHA:266
Valinemia	Hypervalinemia, Valinuria, Failure to thrive, Hyperkinetic movements	OMIM:277100
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam...	ORPHA:488650
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Elevated circulating creatine kinase concentration, Fatty r...	OMIM:613204
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria	ORPHA:419
Exudative Vitreoretinopathy 5	Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T...	OMIM:613310
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy, Hypertriglyceridemia, Short stature	ORPHA:366
Muscular Dystrophy, Cardiac Type	Elevated circulating creatine kinase concentration, Muscular dystrophy, Carnosinuria	OMIM:309930
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare...	OMIM:615924
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Hyperprolinemia, Type I	Ataxia, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinuria	OMIM:239500
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Short stature, Elevated circulating creatine kinase concentration, Cache...	ORPHA:1933
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog...	ORPHA:891
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H...	OMIM:614480
Dent Disease 2	Short stature, Elevated circulating creatine kinase concentration, Elevated circulating aspartate...	OMIM:300555
Preeclampsia	Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Abnormality ...	ORPHA:275555
Oculopharyngodistal Myopathy 2	Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas...	OMIM:618940
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Incoordination, Homocystinuria, Hyperhomocystinemia	OMIM:236250
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency, Elevated circulating creatine kinase concentration, Centrally nucleated skel...	OMIM:620235
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:620286
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate...	OMIM:619386
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	ORPHA:206549
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Elevated circulating creatine kinase concentration, Ankle con...	OMIM:620386
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication	ORPHA:147
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ...	OMIM:608099
Argininemia	Hemiplegia/hemiparesis, Diaminoaciduria, Progressive spastic quadriplegia, Hyperammonemia	ORPHA:90
Myopathy, Distal, Tateyama Type	Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera...	OMIM:614321
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
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
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Postnatal growth retardation, Flexion contracture, Elevated circulatin...	OMIM:616733
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c...	OMIM:254110
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o...	OMIM:600059
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
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
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperammonemia, Growth delay, Hyperlysinuria, Hyperlysinemia	OMIM:238750
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension	OMIM:166990
Myopathy, Tubular Aggregate, 1	Elevated circulating creatine kinase concentration, Flexion contracture, Type 2 muscle fiber atro...	OMIM:160565
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Bethlem Myopathy 2	Scapular winging, Elevated circulating creatine kinase concentration, Flexion contracture, Myopat...	OMIM:616471
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Acute hepatitis, Clonus, Poor coordination, Abnormal pyramidal sign, Spastic gait, ...	OMIM:238970
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Ataxia, Spastic dysarthria, Distal amyotrophy, Hypoalbuminemia, Hypercholesterolemia, Distal lowe...	ORPHA:94124
Pheochromocytoma/Paraganglioma Syndrome 6	Hypertension	OMIM:618464
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Methylmalonic acidemia, Short stature, Chorea, Methylmalonic aciduria, Hyperhomocystinemia, Chore...	OMIM:309541
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increas...	ORPHA:681
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Lower limb amyotrop...	OMIM:616924
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Elevated circulating creatine kinase concent...	OMIM:619473
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Flexion contracture, Increased variability in...	OMIM:300718
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac...	OMIM:300696
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform	OMIM:302045
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Elevated...	OMIM:613954
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Myopathy, Limb...	OMIM:612937
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Myocardial infarction	OMIM:608320
Galactosemia I	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:230400
Glutamate Formiminotransferase Deficiency	Growth delay, Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chlor...	OMIM:229100
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay, Aminoaciduria	ORPHA:79238
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Bradyk...	ORPHA:171442
Polycystic Kidney Disease 7	Hypertension	OMIM:620056
Congenital Myopathy 10A, Severe Variant	Facial palsy, Elevated circulating creatine kinase concentration, Camptodactyly of finger, Diaphr...	OMIM:614399
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Decreased level of coenzyme Q10 in skeletal muscle, Proteinuria	OMIM:614652
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c...	OMIM:613731
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dystrophy, ...	OMIM:253601
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc...	OMIM:308990
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of...	OMIM:608807
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d...	OMIM:616188
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Increased variabilit...	OMIM:611615
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	OMIM:615703
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Elevated circulating creatine kinase concentra...	ORPHA:1878
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula...	ORPHA:98863
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula...	ORPHA:98853
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Diaminopentanuria	Spasticity, Hyperlysinuria, Ataxia, Cystinuria	OMIM:222350
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Am...	OMIM:615605
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k...	OMIM:619566
Hyperlysinemia, Type I	Hyperlysinemia, Hyperlysinuria	OMIM:238700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis	OMIM:158580
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Failure to thrive, Severe short stature	ORPHA:2278
Preeclampsia/Eclampsia 1	Hypertension	OMIM:189800
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome...	OMIM:242530
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula...	ORPHA:98855
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Stimmler Syndrome	Intrauterine growth retardation, Aminoaciduria, Short stature, Ataxia	ORPHA:3199
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Patent ductus arteriosus, Elevated circulating creatinine concentration, Cholestasi...	OMIM:608104
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Skeletal muscle atrophy, Small for gestational age, Elevated circulating ...	OMIM:612073
Glycosylphosphatidylinositol Biosynthesis Defect 17	Growth delay, Hypertriglyceridemia	OMIM:618010
Nemaline Myopathy 2	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Slender build, Frequent falls, Sternoclei...	OMIM:256030
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal s...	ORPHA:363400
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Elevated circulating creatine kinase concentration, Postural tremor, Fatty r...	OMIM:619790
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia, Ataxia	OMIM:607250
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Hypertension, Transient ischemic attack	OMIM:616779
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Tremor, Hemolytic-uremic syndrome, Jaundice, Elevated circulating creatinine concent...	OMIM:274150
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged...	OMIM:616228
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury	ORPHA:54057
Dimethylglycine Dehydrogenase Deficiency	Elevated circulating N,N-dimethylglycine concentration, Elevated circulating creatine kinase conc...	OMIM:605850
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Limb ataxia, Gait ata...	OMIM:208920
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Ataxia, Elevated circulating creatine kinase concentration, Increased urinary s...	OMIM:272300
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
Sarcosinemia	Peroneal muscle weakness, Ataxia, Hypersarcosinemia, Tetraparesis, Hypersarcosinuria	ORPHA:3129
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Spastic tetraparesis, Hyperglutaminemia, Lacticaciduria, Hyperprol...	OMIM:616299
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,...	OMIM:603689
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Nephropathy, Chronic kidney disease, Elevated circulating creatinine concentration...	OMIM:617056
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hypoalbuminemia	OMIM:620357
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
Cystathioninuria	Cystathioninemia, Cystathioninuria, Nephrolithiasis, Tremor	ORPHA:212
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypertriglyceridemia, Short...	ORPHA:79240
Hypertryptophanemia	Camptodactyly of finger, Tryptophanuria, Hypertryptophanemia	OMIM:600627
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria, Short stature	ORPHA:417
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Elevated circulating aspartate aminotransf...	ORPHA:2088
Camptodactyly-Taurinuria Syndrome	Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger	ORPHA:1325
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:612999
Hartnup Disorder	Episodic ataxia, Hypertonia, Short stature, Neutral hyperaminoaciduria	OMIM:234500
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Splen...	OMIM:607616
Congenital Myopathy 18	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F...	OMIM:620246
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Severe X-Linked Mitochondrial Encephalomyopathy	Increased serum pyruvate, Skeletal muscle atrophy, Involuntary movements, Tongue fasciculations, ...	ORPHA:238329
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ...	OMIM:613845
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Camptodactyly 1	Increased urinary taurine, Camptodactyly of finger	OMIM:114200
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb...	OMIM:613404
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Hand muscle atrophy, Hand muscle weakness, Vocal cord paralysis, Distal amyotrophy, Weakness of f...	OMIM:607641
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration...	OMIM:251880
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension	ORPHA:2820
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas...	ORPHA:83461
Lysine Malabsorption Syndrome	Growth delay, Hyperlysinuria, Renal tubular lysine transport defect	OMIM:247950
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hy...	OMIM:306000
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Increased variability in muscle fiber diameter, Weakness of facial musculature, Increased endomys...	OMIM:620265
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Decreased muscle mass, Hypertriglyceridemia, Short stature, Hepato...	OMIM:619013
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm...	ORPHA:264580
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia	ORPHA:664
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Glutamate-Cysteine Ligase Deficiency	Ataxia, Jaundice, Hepatosplenomegaly, Myopathy, Aminoaciduria	ORPHA:33574
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Severe short stature, Muscular dystrophy	OMIM:204730
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea...	ORPHA:401768
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Argininosuccinic Aciduria	Short stature, Ataxia, Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargi...	ORPHA:23
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
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
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Ataxia, Postnatal growth retardation, Tremor, Rigidity, C...	ORPHA:391417
Alg6-Cdg	Ataxia, Jaundice, Decreased LDL cholesterol concentration, Macroglossia, Abnormality of the liver...	ORPHA:79320
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Severe short-limb dwarfism, Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Distal lower limb muscle weakness, Paralysis	OMIM:608634
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Porphyria, Acute Hepatic	Elevated urinary delta-aminolevulinic acid, Failure to thrive, Respiratory paralysis, Paralysis	OMIM:612740
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Hyperaldosteronism, Familial, Type Iv	Hypertension	OMIM:617027
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Elevated circulating creatine kinase concentration, Frequent falls, Abnormal muscle ...	ORPHA:75840
Cystinosis	Renal insufficiency, Short stature, Proteinuria, Portal hypertension, Abnormal pyramidal sign, Re...	ORPHA:213
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Tendon xanthomatosis, Hypertriglyceridemia, Decreased LDL cholesterol conce...	OMIM:603813
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
Coronary Artery Disease, Autosomal Dominant 2	Sudden cardiac death, Hypertension, Myocardial infarction	OMIM:610947
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Trimethylaminuria	Hypertension, Tachycardia	OMIM:602079
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ...	OMIM:232400
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated c...	OMIM:615158
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Nail-Patella-Like Renal Disease	Hypertension	ORPHA:2613
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Distal lower limb muscle weakness, Paralysis	OMIM:158590
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Galloway-Mowat Syndrome 6	Short stature, Proteinuria, Growth delay, Nephrotic syndrome, Focal segmental glomerulosclerosis,...	OMIM:618347
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Glycine Encephalopathy 1	Hyperglycinuria, Hyperglycinemia, Myoclonus	OMIM:605899
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g...	ORPHA:84090
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran...	OMIM:617093
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentrati...	ORPHA:353
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria	OMIM:245900
Argininemia	Hepatomegaly, Postnatal growth retardation, Oroticaciduria, Micronodular cirrhosis, Hyperammonemi...	OMIM:207800
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei...	ORPHA:64753
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, L...	ORPHA:86812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc...	OMIM:253700
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Variegate Porphyria	Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Porphyrinuria, Par...	OMIM:176200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elevated ci...	OMIM:618138
Homocarnosinosis	Spastic paraplegia, Carnosinuria	OMIM:236130
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Hypouricemia, Short stature, Prot...	OMIM:616026
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatosplenomegaly, Hypocalcemia...	OMIM:612526
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy...	ORPHA:71277
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Short stature, Abnormality of the kidney, Proteinuri...	ORPHA:369
Lethal Congenital Contracture Syndrome 7	Skeletal muscle atrophy, Paralysis, Knee flexion contracture, Facial diplegia, Distal arthrogryposis	OMIM:616286
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Ataxia, Microno...	ORPHA:98907
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Encephalopathy Due To Sulfite Oxidase Deficiency	Ataxia, Spastic tetraparesis, Hemiplegia/hemiparesis, Aminoaciduria, Spasticity	ORPHA:833
Plin1-Related Familial Partial Lipodystrophy	Calf muscle hypertrophy, Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis	ORPHA:280356
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Skeletal muscle atrophy, Lower-limb joint contracture, Paralysis	OMIM:613710
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Shallow anterior chamber, Macular atrophy, Retinal degeneration	OMIM:267760
Drug-Induced Lupus Erythematosus	Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr...	ORPHA:231111
Glut1 Deficiency Syndrome 1	Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity	OMIM:606777
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre...	OMIM:618484
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Hand muscle wea...	ORPHA:98908
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Conjugated hyper...	OMIM:617156
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Elevated circulating creatine kinase concentration, Fatty replacement of skele...	OMIM:620249
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Growth delay, Hypoalbuminemia, Steato...	OMIM:246700
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat...	OMIM:256300
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Ataxia, Increased level of gamma-aminobutyric acid in uri...	OMIM:271980
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ...	OMIM:601813
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, I...	OMIM:611705
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Neuropathy, Hereditary Motor And Sensory, Russe Type	Distal lower limb amyotrophy, Distal lower limb muscle weakness, Claw hand deformity, Paralysis	OMIM:605285
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Analbuminemia	Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased LDL cholester...	OMIM:616000
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia...	OMIM:267700
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:300635
Cryoglobulinemia, Familial Mixed	Hypertension, Elevated circulating creatinine concentration	OMIM:123550
Focal Segmental Glomerulosclerosis 5	Hypertension	OMIM:613237
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ocular anterior segment dysgenesis, Retinal dysplasia, Coloboma, Developmental cataract	ORPHA:324416
3-Hydroxyisobutyric Aciduria	Aminoaciduria, Failure to thrive	OMIM:236795
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Hypomethioninemia, Poor coordination, Hyperhomocystinemia, Failure to thrive, Homocystinuria	OMIM:250940
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co...	ORPHA:2334
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha...	OMIM:613095
Hydroxykynureninuria	Aminoaciduria, Jaundice	OMIM:236800
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Cataract	OMIM:619082
Carnosinemia	Carnosinuria	OMIM:212200
Oculopharyngeal Muscular Dystrophy	Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ...	ORPHA:270
Iga Nephropathy, Susceptibility To, 3	Hypertension	OMIM:616818
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ...	ORPHA:486815
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Am...	OMIM:277900
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Hypertoni...	OMIM:236270
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hypertension	OMIM:607832
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Elevated circulatin...	OMIM:617114
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb...	OMIM:208085
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos...	OMIM:278000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf muscle hype...	OMIM:613157
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Flexion contracture, Renal hypoplasia, Lacticaciduria, Aminoaciduria, Hypertonia, 3...	OMIM:604273
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Elevated circulating aspar...	OMIM:227810
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Elevated circulating creatine kinase concentration, Ankle flexion contra...	OMIM:617072
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Abn...	ORPHA:79233
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir...	ORPHA:49041
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ...	OMIM:613027
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Rhizomelia, Short stature, Proteinuria, Glomerulonephritis, Elevated circulating cr...	OMIM:614376
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Gait ataxia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive	OMIM:612075
Methionine Malabsorption Syndrome	Aminoaciduria, Positive ferric chloride test	OMIM:250900
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Tremor, Vocal cord paralysis, Myopathy, Increased variabili...	ORPHA:397744
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Short stature, Overweight, Flexion contracture, ...	OMIM:616222
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Butyrylcholinesterase Deficiency	Abnormality of the liver, Paralysis	ORPHA:132
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity	ORPHA:88643
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria, Growth delay, Hypocalcemia, Failure to thrive	ORPHA:163693
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Hepatic steatosis, Elevated circulating creatine kinase concentration, H...	OMIM:615980
Cystic Hamartoma Of Lung And Kidney	Hypertension	ORPHA:2111
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Ataxia, Proteinuria, Mesangial hypercellularit...	OMIM:617575
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Clonus, Spastic te...	OMIM:619055
Focal Segmental Glomerulosclerosis 2	Hypertension	OMIM:603965
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Facial palsy, Parkin...	OMIM:258450
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity	ORPHA:71529
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Short stature, Hypercalcemia, Proteinuria, Macroscopic ...	ORPHA:251004
Glycogen Storage Disease Vii	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Inc...	OMIM:232800
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva...	OMIM:613070
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu...	ORPHA:88618
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Increased muscle lipid ...	OMIM:608836
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Failure to thrive, Generalized aminoaciduria	OMIM:606528
Leber Congenital Amaurosis 1	Growth delay, Hyperthreoninuria, Hyperthreoninemia, Hepatomegaly	OMIM:204000
Iga Nephropathy, Susceptibility To, 2	Hypertension	OMIM:613944
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Short stature, Distal amyotrophy, Type 1 muscle fiber predominance, Increased va...	OMIM:619042
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Incoordination, Elevated circulating creatinine concentration, Growth delay, Increased blood urea...	OMIM:223900
Aicardi-Goutieres Syndrome 9	Hypertonia, Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Porta...	OMIM:619487
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s...	OMIM:134600
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Glomerulopathy With Fibronectin Deposits 2	Hypertension	OMIM:601894
Lipodystrophy, Familial Partial, Type 4	Skeletal muscle hypertrophy, Hypertriglyceridemia, Hepatic steatosis	OMIM:613877
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ...	ORPHA:470
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Hypokalemic Periodic Paralysis, Type 2	Myopathy, Hypokalemia, Periodic paralysis	OMIM:613345
Hyperkalemic Periodic Paralysis	Hyponatremia, Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Elevated ...	ORPHA:682
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Ataxia-Oculomotor Apraxia 4	Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Obesity, T...	OMIM:616267
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Flexio...	ORPHA:367
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Splenomegaly, Abnormality of s...	ORPHA:79083
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc...	ORPHA:158057
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria	OMIM:204750
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Short stature, Elevated circulating creatine kinase concentration, Fatty replacement of skeletal ...	ORPHA:52430
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent...	OMIM:618805
Lipe-Related Familial Partial Lipodystrophy	Proximal muscle weakness in upper limbs, Hepatomegaly, Hypertriglyceridemia, Elevated circulating...	ORPHA:435660
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Myopathy, Pelvic gir...	ORPHA:119
2,4-Dienoyl-Coa Reductase Deficiency	Incoordination, Ataxia, Clonus, Tetraplegia, Choreoathetosis, Hyperlysinuria, Decreased plasma fr...	OMIM:616034
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine, Ataxia, Spastic tetraparesis, Intention tremor	OMIM:266130
Hypotonia-Cystinuria Syndrome	Facial palsy, Postnatal growth retardation, Ragged-red muscle fibers, Nephrolithiasis, Cystinuria...	OMIM:606407
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato...	OMIM:276700
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Hand tremor, Proximal amyotrophy, Tetraplegia, Fasciculations, Mildly elevated cr...	OMIM:604484
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Failure to thrive, Spastic tetraparesis, Hyper...	OMIM:605711
Osteopetrosis, Autosomal Recessive 9	Postnatal growth retardation, Stage 3 chronic kidney disease, Elevated circulating creatinine con...	OMIM:620366
Phenylketonuria	Aminoaciduria	ORPHA:716
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly	OMIM:613101
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Short stature, Failure to thrive in infancy, Babinski sign, Spastic diplegia, Myoclonus, ...	OMIM:619065
Chylomicron Retention Disease	Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Increased hepatocellular ...	ORPHA:71
Familial Cervical Artery Dissection	Abnormal circulating lipid concentration, Facial palsy, Paralysis	ORPHA:36382
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
D-Glyceric Aciduria	Patent ductus arteriosus, Nonketotic hyperglycinemia, Spastic tetraplegia, Opisthotonus, Growth d...	OMIM:220120
Lipase Deficiency, Combined	Hypertriglyceridemia, Pancreatitis	OMIM:246650
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ataxia, Head titubation, Dysmetria, Aminoaciduria, Myoclonus, Truncal ataxia, Failure to thrive	OMIM:250620
Snakebite Envenomation	Hyponatremia, Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Respiratory paralysis, Muscle fi...	ORPHA:449285
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure...	OMIM:154230
Acute Peripheral Arterial Occlusion	Limb muscle weakness, Paralysis	ORPHA:90064
5-Oxoprolinase Deficiency	Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis	OMIM:260005
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Sialidosis Type 1	Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Short stature, Ataxia,...	ORPHA:812
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Skeletal muscle hypertrophy, Macroglossia, Cirrhosis, Hyperch...	ORPHA:528
Argininosuccinic Aciduria	Hepatomegaly, Ataxia, Elevated circulating aspartate aminotransferase concentration, Hyperglutami...	OMIM:207900
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Acute hyperammonemia, Cerebral palsy, Ketonuria, Hyperglycinuria, Hypera...	OMIM:210210
Gitelman Syndrome	Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Rhabdomyolysis, Growth delay, Enuresis, Hyp...	OMIM:263800
Hyperaldosteronism, Familial, Type Ii	Hypertension	OMIM:605635
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Short stature, Elevated h...	ORPHA:1667
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension	ORPHA:401945
Relapsing Fever	Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, E...	ORPHA:91547
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Flexion contracture, Muscle...	OMIM:254090
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Ataxia, Increase...	OMIM:603553
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Spastic tetraparesis, Abnormal pyramidal si...	ORPHA:436271
Multiple Mitochondrial Dysfunctions Syndrome 3	Spastic tetraplegia, Hyperglycinemia, Arthrogryposis multiplex congenita, Beta-aminoisobutyric ac...	OMIM:615330
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Lower limb spasticity, Renal insufficiency, Hepatomegaly, Foot joi...	ORPHA:90321
Autoinflammation With Infantile Enterocolitis	Short stature, Elevated circulating C-reactive protein concentration, Increased circulating ferri...	OMIM:616050
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Hypophosphatemia, Hypopho...	OMIM:618913
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Ataxia, Eleva...	OMIM:618384
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Tendon xanthomatosis, Increased HDL cholesterol concentration, Hypercholesterolem...	ORPHA:79506
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Liddle Syndrome	Hypertension, Arrhythmia, Cerebral ischemia	ORPHA:526
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertonia, Left ventricular noncompaction, Incre...	OMIM:617228
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Familial Partial Lipodystrophy, Dunnigan Type	Glomerulopathy, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Abnormality of skeletal muscle ...	ORPHA:2348
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Hepatomegaly, Hypolysinemia, Short stature, Increased circulating ferrit...	OMIM:222700
Glomerulopathy With Fibronectin Deposits 1	Hypertension	OMIM:137950
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:616812
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber morphology, Tremor, Paral...	ORPHA:79102
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas...	ORPHA:230
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic failure, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosi...	OMIM:602579
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia, Decreased li...	ORPHA:79327
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Renal...	OMIM:613388
D-Glyceric Aciduria	Increased circulating free fatty acid level, Chorea, Hyperglycinuria, Nonketotic hyperglycinemia,...	ORPHA:941
Xp21 Deletion Syndrome	Decreased muscle mass, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, ...	ORPHA:261476
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Lethal Congenital Contracture Syndrome 8	Flexion contracture, Vocal cord paralysis, Facial diplegia, Distal amyotrophy, Distal arthrogryposis	OMIM:616287
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Molybdenum Cofactor Deficiency, Complementation Group C	Hypouricemia, Increased urinary taurine, Limb hypertonia, Hypertonia, Hypertaurinemia, Hypocystin...	OMIM:615501
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, F...	ORPHA:79319
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Propionic Acidemia	Hepatomegaly, Short stature, Increased level of hippuric acid in urine, Hyperglycinuria, Hyperamm...	OMIM:606054
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar...	OMIM:615558
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Molybdenum Cofactor Deficiency, Complementation Group A	Hypouricemia, Xanthine nephrolithiasis, Spastic tetraparesis, Increased urinary sulfite level, Ab...	OMIM:252150
Glutathionuria	Urinary incontinence, Tremor, Dysdiadochokinesis, Glutathionuria, Action tremor	OMIM:231950
Dent Disease	Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin...	ORPHA:1652
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia	OMIM:608600
Distal Renal Tubular Acidosis	Hyperphosphaturia, Short stature, Paralysis, Hypocitraturia, Nephrolithiasis, Renal cyst, Hyperca...	ORPHA:18
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki...	OMIM:300009
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Hypokalemic Periodic Paralysis, Type 1	Myopathy, Hypokalemia, Periodic paralysis	OMIM:170400
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Lessel-Kubisch Syndrome	Hypertension	OMIM:618681
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri...	OMIM:239200
Glycogen Storage Disease Xii	Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Cholelithiasis, ...	OMIM:611881
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level	OMIM:615238
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Renal tubular dysfunction, Glycosuria, Amin...	OMIM:220110
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Short stature, Urinary incontinence, Decreased serum cre...	OMIM:618885
Smith-Magenis Syndrome	Hypertriglyceridemia, Short stature, Abnormal renal morphology, Increased body weight, Abnormalit...	OMIM:182290
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Oligomeganephronia	Renal insufficiency, Small for gestational age, Proteinuria, Congenital diaphragmatic hernia, Uni...	ORPHA:2260
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Hypertriglyceridemia	OMIM:620282
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Jaundice, Aminoaciduria, Polycy...	OMIM:214110
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Cirrhosis, Hepatic ...	OMIM:604367
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Small for gestational age, Patent ductus arteriosus, Hematuria, Hypoalbuminemia, Decreased liver ...	OMIM:617021
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp...	OMIM:540000
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy...	OMIM:619178
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Incoordination, Small for gestational age, Short stature, C...	OMIM:277380
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Distal lower limb amyotrophy, Postural tremor, Hand muscle weakness, Quadriceps muscle weakness, ...	ORPHA:99947
Pseudohypoaldosteronism Type 2	Growth delay, Hyperkalemia, Short stature, Periodic paralysis	ORPHA:757
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Patent ductus arteriosus, Methylmalonic aciduria, Hype...	OMIM:614857
Polycystic Kidney Disease 5	Hypertension	OMIM:617610
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Tendon xanthomatosis, Dysmetria, Clumsiness, Increased LDL choleste...	OMIM:277460
Optic Atrophy 11	Short stature, Ataxia, Splenomegaly, Gait apraxia, Dysmetria, Facial diplegia, Athetosis, Hyperki...	OMIM:617302
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension	OMIM:605115
Grange Syndrome	Aortic regurgitation, Hypertension	ORPHA:79094
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617760
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine	OMIM:231900
Iga Nephropathy, Susceptibility To, 1	Hypertension	OMIM:161950
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:255120
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Coproporphyria, Hereditary	Hypertension, Tachycardia	OMIM:121300
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Chorea, Choreoathetosis, Complex organic ac...	ORPHA:506
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:540
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hepatic...	ORPHA:435651
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hypertriglyceridemia, Hepatic failure	OMIM:177000
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re...	OMIM:614473
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia, Obesity	OMIM:617885
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Renal insufficiency, Hype...	OMIM:203800
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Short stature, Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decre...	OMIM:300580
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating alanine a...	OMIM:615381
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm...	ORPHA:98897
Sickle Cell Anemia	Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho...	ORPHA:232
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hyperprolinemia, Hypergly...	ORPHA:79101
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria, Elevated circulating creatinine concentration, Weight loss	ORPHA:90060
Hypotonia-Cystinuria Syndrome	Growth delay, Failure to thrive, Nephrolithiasis, Cystinuria	ORPHA:163690
Orthostatic Hypotension 1	Hypomagnesemia, Weakness of facial musculature, Nocturia, Increased blood urea nitrogen	OMIM:223360
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Cystinosis, Nephropathic	Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,...	OMIM:219800
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypercalciuria, Hypouricemia, Increased urinary potassium, Chro...	ORPHA:3337
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Rhabdomyolysis, Periodic paralysis, Weight loss	OMIM:188580
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Proximal muscle weakness in upper limbs, Flexion contracture, Proximal muscle weakness in lower l...	OMIM:607706
Immunodeficiency 27A	Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Weight loss	OMIM:209950
Myopathy, Mitochondrial, And Ataxia	Short stature, Elevated circulating creatine kinase concentration, Ataxia, Tremor, Dysmetria, Lim...	OMIM:617675
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Weight loss, Hypoalbuminemia	ORPHA:507
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hand tremor, Periodic paralysis	OMIM:609153
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Canavan Disease	Abnormal pyramidal sign, Elevated urinary N-acetylaspartic acid level, Increased circulating N-ac...	OMIM:271900
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, Growth delay, Aminoaciduria, Myoclonus, Elevated hepatic iron conce...	OMIM:614946
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno...	OMIM:618654
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A...	ORPHA:209902
Gyrate Atrophy Of Choroid And Retina	Hyperornithinemia, Aminoaciduria	ORPHA:414
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Myop...	OMIM:255125
Pseudohypoaldosteronism, Type Iia	Hypertension	OMIM:145260
Bacterial Toxic-Shock Syndrome	Myositis, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine ...	ORPHA:36234
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ...	ORPHA:600
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Ischemic stroke	OMIM:615750
Hyperlysinemia	Failure to thrive, Neck hypertonia, Short stature, Poor motor coordination, Spastic tetraparesis,...	ORPHA:2203
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Ataxia, Proteinuria, Tremor, Flex...	OMIM:212065
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Proteinuria, Nodular regenerative hyperplasia of liver, Nephropathy, Elevated circulating creatin...	ORPHA:247691
Cataract 16, Multiple Types	Posterior polar cataract, Retinal dystrophy, Lenticonus, Developmental cataract	OMIM:613763
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Acquired Generalized Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Proteinuria, Acute pancreatiti...	ORPHA:79086
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Spinocerebellar Ataxia Type 26	Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa...	ORPHA:101112
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperlipidemia, Short stature, Obesity	ORPHA:329249
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Cardiomyopathy	ORPHA:3222
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Hypoalbuminemia, Macrovesicular hepat...	OMIM:618329
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea...	OMIM:620310
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa...	OMIM:308240
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Short stature, Proteinuria, Absence of renal cor...	OMIM:120330
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Short stature, Tremor, Increased variability in muscle fiber diameter, Dysmetria, Increased muscl...	ORPHA:502423
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Rabies	Vocal cord paresis, Cerebral palsy	ORPHA:770
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Hypoalbuminemia, Hepatic fibrosi...	ORPHA:14
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated ...	OMIM:614105
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Patent ductus arteriosus, Flexion contracture, Macroglos...	OMIM:617303
Immunodeficiency 32B	Splenomegaly, Hepatomegaly, Failure to thrive, Hypoalbuminemia	OMIM:226990
Molybdenum Cofactor Deficiency, Complementation Group B	Hypouricemia, Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Spastic tet...	OMIM:252160
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Short stature, Ataxia	OMIM:249270
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Ataxia, Cholangitis, Microvesicular hepatic stea...	OMIM:124000
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Typical Nemaline Myopathy	Elevated circulating creatine kinase concentration, Facial palsy, Limb-girdle muscle weakness, Fl...	ORPHA:171436
Amyotrophic Lateral Sclerosis 21	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, H...	OMIM:606070
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketonuria, Short stature, Hyperlipidemia, Glycosuria, Failure to t...	ORPHA:2089
Sneddon Syndrome	Intracranial hemorrhage, Hypertension	ORPHA:820
Takayasu Arteritis	Myocardial infarction, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertensi...	ORPHA:3287
Intermediate Uveitis	Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ...	ORPHA:279914
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Postural tremor, Proteinuria, Action tremor, Gait ataxia, Ne...	OMIM:254900
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Short stature, Renal hypoplasia/aplasia, Abno...	ORPHA:819
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Dermotrichic Syndrome	Aminoaciduria, Proportionate short stature	ORPHA:99688
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia,...	ORPHA:542323
Congenital Myopathy 3 With Rigid Spine	Failure to thrive, Decreased body weight, Short stature, Facial palsy, Centrally nucleated skelet...	OMIM:602771
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab...	ORPHA:85443
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice...	OMIM:229600
Non-Functioning Paraganglioma	Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vo...	ORPHA:94080
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Charcot-Marie-Tooth Disease Type 4A	Frequent falls, Hand muscle weakness, Quadriceps muscle weakness, Denervation of the diaphragm, P...	ORPHA:99948
Senior-Loken Syndrome	Hypertension	ORPHA:3156
Potocki-Shaffer Syndrome	Hypertension	ORPHA:52022
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Obesity, Nephrocalcinosis, Hypernatriuria, Hyperp...	ORPHA:90041
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Tremor, Cystathionin...	OMIM:277400
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Grow...	ORPHA:411629
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy...	ORPHA:86816
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Abnormal...	ORPHA:29073
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Severe short stature, Proteinuria, Cachexia, ...	OMIM:610965
Familial Partial Lipodystrophy, Köbberling Type	Hypertension	ORPHA:79084
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula...	OMIM:619418
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	ORPHA:1349
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Short stature, Proteinuria, Stage 5 chronic kidney disease, Nephroti...	OMIM:617729
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-...	ORPHA:47159
Refractory Celiac Disease	Elevated hepatic transaminase, Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypoph...	ORPHA:398063
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,...	OMIM:137920
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Facial palsy, Elevated circulating creatine kinase concentration, Clonus, Tremor, T...	OMIM:619424
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Growth delay, Nephrocalcinosis, Aminoac...	OMIM:617913
Trichohepatoenteric Syndrome 1	Hepatomegaly, Small for gestational age, Short stature, Hypospadias, Abnormality of the pancreas,...	OMIM:222470
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Short stature, Hydroxyprolinemia, Hypercalciuria, Hyperp...	OMIM:239000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Short stature, De...	ORPHA:79259
Amyloidosis, Familial Visceral	Hypertension	OMIM:105200
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Ataxia, Proteinuria	OMIM:603585
Paramyotonia Congenita Of Von Eulenburg	Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis, Abnormal b...	ORPHA:684
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis	ORPHA:140989
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Renal insufficiency, Short stature, Elevated circulating creatine kinase conce...	OMIM:309000
Lysosomal Acid Lipase Deficiency	Renal salt wasting, Microvesicular hepatic steatosis, Hepatic fibrosis, Hyponatremia, Hepatosplen...	ORPHA:275761
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth retardation, ...	ORPHA:2457
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Patent ductus arteriosus, Macroglossi...	OMIM:214100
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Ataxia, Centrally nucleated skeletal muscle fibers, Ra...	OMIM:607459
Congenital Myopathy 15	Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability in muscle fiber...	OMIM:620161
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Hypokalemia, Periodic paralysis, Weight loss	OMIM:613239
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Short stature, Hyperglycerolemia, Increased urin...	OMIM:307030
Hereditary Neuropathy With Liability To Pressure Palsies	Vocal cord paralysis	ORPHA:640
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis	ORPHA:79085
Myasthenic Syndrome, Congenital, 22	Short stature, Cystinuria	OMIM:616224
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hypomethioninemia, Lower limb spasticity, Ataxia, Lower limb muscle weakness, Hyperhomocystinemia...	ORPHA:395
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co...	OMIM:620351
Chronic Bilirubin Encephalopathy	Cerebral palsy, Hypertonia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal...	ORPHA:529808
Acute Bilirubin Encephalopathy	Cerebral palsy, Hypertonia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal...	ORPHA:529799
X-Linked Adrenoleukodystrophy	Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clum...	ORPHA:43
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hemiplegia/hemiparesis, Ren...	ORPHA:156
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Small for gestational age, Short stature, Ataxi...	OMIM:251300
Eosinophilic Gastroenteritis	Weight loss, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Steatorrhea	ORPHA:2070
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension	OMIM:600666
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Spinocerebellar Ataxia Type 3	Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c...	ORPHA:98757
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev...	ORPHA:556037
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Parkinsonism, Paralysis	OMIM:105500
Creatine Phosphokinase, Elevated Serum	Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I...	OMIM:123320
Seckel Syndrome 10	Acute pancreatitis, Severe short stature, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated...	OMIM:617253
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c...	OMIM:612109
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Renal Tubular Acidosis Iii	Periodic paralysis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Nephrocalcinosis...	OMIM:267200
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Maternal Uniparental Disomy Of Chromosome 4	Calf muscle pseudohypertrophy, Neurogenic bladder, Abetalipoproteinemia, Elevated circulating cre...	ORPHA:96180
Primary Sclerosing Cholangitis	Acute hepatic failure, Hypoalbuminemia, Generalized amyotrophy, Hepatic fibrosis, Neoplasm of the...	ORPHA:171
Japanese Encephalitis	Hyponatremia, Skeletal muscle atrophy, Weakness due to upper motor neuron dysfunction, Facial pal...	ORPHA:79139
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Skeletal muscle atrophy, Limb muscle weakness, Paroxysmal nocturnal hemoglobinuria, Paralysis	OMIM:612300
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Short stature, Hyperuricemia	ORPHA:364
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Methioninuria, Hyperhomocystinemia, Hypermethioninemia, Failure to thrive, Hom...	OMIM:236200
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Short stature, Proteinuria, H...	OMIM:232200
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,...	ORPHA:186
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Splenomegaly, Flexio...	OMIM:617591
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Conjugated hyperbi...	ORPHA:79303
Familial Expansile Osteolysis	Hydroxyprolinuria	OMIM:174810
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev...	ORPHA:556030
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Urethral stricture, Short stature, Motheaten muscle fibers, Muscular dystrophy, Increased variabi...	OMIM:226670
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Failure to thrive, Decreased serum iron, Flexion contracture, Growth del...	ORPHA:89842
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension	OMIM:616069
Neuropathy, Hereditary, With Liability To Pressure Palsies	Vocal cord paralysis, Hand muscle weakness	OMIM:162500
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Choreoathetosis, Hyperton...	ORPHA:17
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Growth delay, Hypocalcemia, Hypophosphatemia, Failure to thrive, Hypoc...	OMIM:264700
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An...	ORPHA:66529
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Paralysis	OMIM:300857
Immunodeficiency 97 With Autoinflammation	Recurrent urinary tract infections, Hypertriglyceridemia, Splenomegaly, Increased circulating fer...	OMIM:619802
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Recurrent...	ORPHA:444490
Myasthenic Syndrome, Congenital, 16	Periodic paralysis	OMIM:614198
Denys-Drash Syndrome	Hypertension	ORPHA:220
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Methylmalonic aciduria, Hyperhomocysti...	OMIM:277410
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosus, Abnormality of the ureter, Amin...	ORPHA:30
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Weight loss, Growth delay, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hy...	ORPHA:90362
Corticosteroid-Binding Globulin Deficiency	Hypertension, Hypotension	OMIM:611489
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Bruck Syndrome 2	Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Hydroxyp...	OMIM:609220
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia	OMIM:619313
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hypertension	ORPHA:1192
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
Sneddon Syndrome	Hypertension, Ischemic stroke, Cerebral hemorrhage	OMIM:182410
Hypocalcemic Vitamin D-Dependent Rickets	Short stature, Postnatal growth retardation, Generalized aminoaciduria, Hypocalcemia, Hypophospha...	ORPHA:289157
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Frequ...	ORPHA:101097
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hepatomegaly, Growth delay, Hypoalbuminemia	OMIM:226300
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ...	OMIM:616867
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Weight loss	ORPHA:2494
Hyperaldosteronism, Familial, Type I	Hypertension	OMIM:103900
Congenital Enterovirus Infection	Hepatitis, Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepatic failure	ORPHA:292
Griscelli Syndrome Type 1	Hyperlipidemia, Hypertonia, Ataxia	ORPHA:79476
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Spleno...	ORPHA:280365
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Hyperkalemia	OMIM:170500
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase...	OMIM:617066
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Short...	OMIM:606071
Fumarase Deficiency	Bilateral fetal pyelectasis, Increased urine succinate level, Intrahepatic cholestasis, Elevated ...	OMIM:606812
Polyarteritis Nodosa	Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension	ORPHA:767
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage	ORPHA:280679
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Jaundice, Chronic kidney...	ORPHA:447
Werner Syndrome	Hypertriglyceridemia, Short stature, Elevated hemoglobin A1c, Elevated circulating aspartate amin...	OMIM:277700
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Intracranial hemorrhage, Hypertension, Lacunar st...	ORPHA:136
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney...	ORPHA:567546
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Skeletal muscle atrophy, Ataxia, Babinski sign, Gait ataxia, Elevated urine acetoacetic acid leve...	OMIM:620089
Microtriplication 11Q24.1	Speech apraxia, Short stature, Hyperlipidemia, Obesity, Hyperkinetic movements	ORPHA:289522
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Limb joint contracture, Facial hy...	ORPHA:404454
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hypertension, Mitral regurgitation	OMIM:173900
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis	OMIM:301080
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypertension	ORPHA:181
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Myopathy, Spasticity, Ataxia, Increased variability in muscle fiber diameter	OMIM:125250
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Increased circulating ...	ORPHA:158048
Machado-Joseph Disease Type 1	Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Facial-lingual fascicu...	ORPHA:276238
Machado-Joseph Disease Type 2	Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Facial-lingual fascicu...	ORPHA:276241
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Liddle Syndrome 2	Hypertension	OMIM:618114
Liddle Syndrome 3	Hypertension	OMIM:618126
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter, Chorea, Athetosis, Myoclonus	OMIM:617235
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Failure to thrive, Ketonuria, Large for gestational age	OMIM:614520
Pseudohypoaldosteronism, Type Iib	Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension	OMIM:614495
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Liver Disease, Severe Congenital	Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic...	OMIM:619991
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Aciduria, Paralysis, ...	OMIM:203700
Tick-Borne Encephalitis	Speech apraxia, Skeletal muscle atrophy, Elevated hepatic transaminase, Incoordination, Facial pa...	ORPHA:297
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Obesity	ORPHA:66628
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Apraxia, Hypertriglyceridemia, Short stature, Ataxia, He...	ORPHA:77293
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Paraparesis, Hypercalcemia, Tetraparesis	OMIM:602080
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Failure to thrive in infancy, Flexion contracture, Spastic paraplegia, Growth delay, Increased va...	OMIM:619026
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Obesity	ORPHA:179494
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Familial Cerebral Saccular Aneurysm	Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage	ORPHA:231160
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Glutaric Aciduria Iii	Hypertension	OMIM:231690
Postorgasmic Illness Syndrome	Hypertension, Palpitations	ORPHA:279947
Cutis Marmorata Telangiectatica Congenita	Hypertension, Telangiectasia	OMIM:219250
Ganglioneuroma	Gastrointestinal hemorrhage, Hypertension	ORPHA:251992
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension	OMIM:201910
Porphyria, Acute Intermittent	Dysuria, Urinary incontinence, Paralysis, Urinary retention, Respiratory paralysis, Hepatocellula...	OMIM:176000
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Skeletal muscle atrophy, Vocal cord paresis, Intrinsic hand muscle atrophy, Gait ataxia, Distal a...	OMIM:614895
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,...	OMIM:201450
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Myositis, Failure to thrive in infancy, Cachexia, Splenomegaly, Ab...	ORPHA:37042
Insulin-Resistance Syndrome Type B	Proteinuria, Abnormality of body weight, Abnormal circulating fatty-acid concentration, Increased...	ORPHA:2298
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena...	OMIM:618183
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension	OMIM:166300
Antiphospholipid Syndrome, Familial	Retinal detachment, Keratitis, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Ir...	OMIM:107320
Gitelman Syndrome	Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Paralysis, Decreased urinary potassi...	ORPHA:358
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Patent ductus arteriosus, Flexion contracture, H...	ORPHA:505248
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentration, Ataxia, Tr...	OMIM:164310
Phacoanaphylactic Uveitis	Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, Vitritis, Abnormal...	ORPHA:209959
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Tryptophanuria With Dwarfism	Severe short stature, Ataxia, Tryptophanuria	OMIM:276100
Riboflavin Transporter Deficiency	Hypertension	ORPHA:97229
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter, Ataxia, Gait ataxia	OMIM:617915
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,...	ORPHA:90038
Nephronophthisis 18	Hypertension	OMIM:615862
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Paralysis	ORPHA:83601
Rhabdoid Tumor	Hypertension, Internal hemorrhage	ORPHA:69077
Alg12-Cdg	Hyponatremia, Elevated hepatic transaminase, Hypospadias, Patent ductus arteriosus, Hypoalbuminem...	ORPHA:79324
Alagille Syndrome 1	Duplicated collecting system, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular...	OMIM:118450
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria	ORPHA:2158
Histidinuria Due To A Renal Tubular Defect	Impaired histidine renal tubular absorption, Histidinuria	OMIM:235830
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam...	ORPHA:276621
Hartnup Disease	Abnormal urinary color, Short stature, Ataxia, Neutral hyperaminoaciduria	ORPHA:2116
Machado-Joseph Disease Type 3	Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Facial-lingual fascicu...	ORPHA:276244
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:403
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension	OMIM:202110
H Syndrome	Hypertriglyceridemia, Short stature, Abnormality of the kidney, Enlarged kidney, Hepatosplenomega...	ORPHA:168569
Liddle Syndrome 1	Hypertension	OMIM:177200
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Chédiak-Higashi Syndrome	Hyponatremia, Elevated hepatic transaminase, Hypertriglyceridemia, Ataxia, Parkinsonism, Tremor, ...	ORPHA:167
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Hypertension	OMIM:618061
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Netherton Syndrome	Aminoaciduria, Short stature, Hydronephrosis, Ectopic kidney	ORPHA:634
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Hepatic steatosis, Recurrent urinary tract infections, Small for g...	OMIM:613658
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:614096
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Hypoalbuminemia, Weight loss	ORPHA:67
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Intrahepatic bile duct dilatati...	OMIM:619534
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Patent ductus arteriosus, Obesity, Renal cyst, Hypercalciuri...	ORPHA:369837
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Ectopic kidney, Horseshoe kidney, Hypoalbuminemia, Camptodacty...	OMIM:235510
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami...	OMIM:619573
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria	OMIM:273400
Poliomyelitis	Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Paraparesis, Abnormal skeletal...	ORPHA:2912
Congenital Myopathy 4A, Autosomal Dominant	Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r...	OMIM:255310
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Rigidity, Ragged-red muscle ...	OMIM:157640
Familial Hyperaldosteronism Type Ii	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:404
Pseudohypoaldosteronism, Type Iie	Hypertension	OMIM:614496
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Tachycardia	OMIM:613870
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91500
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Spasticity, Paralysis	ORPHA:803
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, H...	ORPHA:340
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated hemogl...	OMIM:619127
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Myopathy, Increased variability in muscle fiber diameter, Hepatomegaly	OMIM:604377
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Growth delay, Failure to thrive, Hypernatremia, Hypoalbuminemia	OMIM:615508
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
X-Linked Centronuclear Myopathy	Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of...	ORPHA:596
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, I...	ORPHA:565612
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas...	OMIM:600376
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Short stature, Proteinuria, Pancreatic fibrosis, Hep...	OMIM:232220
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis	ORPHA:494424
Pituitary Adenoma 1, Multiple Types	Hypertension, Cardiomyopathy	OMIM:102200
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage	ORPHA:251274
Schimke Immuno-Osseous Dysplasia	Small for gestational age, Short stature, Microscopic hematuria, Minimal change glomerulonephriti...	ORPHA:1830
Yellow Fever	Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati...	ORPHA:99829
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
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst	OMIM:617478
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega...	OMIM:608594
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Juvenile Paget Disease	Hypertension	ORPHA:2801
Griscelli Syndrome Type 2	Hepatomegaly, Splenomegaly, Hyperlipidemia, Jaundice, Hypertonia	ORPHA:79477
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Ataxia, Splenomegaly, Growth delay, Nephrocalcinosis, Aminoaciduria	OMIM:616084
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Increased variability in muscle fiber diameter	OMIM:616816
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Skeletal muscle atrophy, ...	OMIM:256040
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Renal insufficiency, Elevated circulating creatine kinase concentr...	ORPHA:99826
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy, Polyminimyoclo...	OMIM:619574
Foodborne Botulism	Cerebral palsy, Urinary retention, Diaphragmatic paralysis, Paralysis	ORPHA:228371
Toxin-Mediated Infectious Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:230800
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam...	ORPHA:29072
Ochoa Syndrome	Hypertension	ORPHA:2704
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H...	OMIM:272750
Stiff Skin Syndrome	Hypertension	ORPHA:2833
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Heme Oxygenase 1 Deficiency	Hypertension, Epistaxis, Diffuse alveolar hemorrhage	OMIM:614034
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Short stature, Periodic paralysis, Renal hypoplasia, Growth dela...	ORPHA:37553
Andersen Cardiodysrhythmic Periodic Paralysis	Scapular winging, Short stature, Periodic paralysis, Hypokalemia, Periodic hypokalemic paresis	OMIM:170390
Paroxysmal Hemicrania	Hypertension	ORPHA:157835
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Clonus, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Glomeru...	ORPHA:534
Nephroblastoma	Hypertension	ORPHA:654
Smith-Lemli-Opitz Syndrome	Renal cyst, Hypertonia, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hepatic steatosis, Peno...	OMIM:270400
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Failure to thrive, Hypoalbuminemia, Growth delay	ORPHA:79396
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Hypospadias	OMIM:610644
Apparent Mineralocorticoid Excess	Hypertension	OMIM:218030
Tetanus	Hypertension, Tachycardia, Bradycardia	ORPHA:3299
Glucocorticoid Resistance, Generalized	Hypertension	OMIM:615962
Familial Pseudohyperkalemia	Hypertension	ORPHA:90044
Cap Myopathy	Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In...	ORPHA:171881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Macroglossia, Co...	OMIM:613150
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Gaucher Disease, Type I	Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten...	OMIM:230800
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Small for gestational age, Clonus, Polyuria, Babinski sign, Dysmetria, Gait...	OMIM:606721
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, Increased variability in ...	OMIM:616866
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ...	OMIM:233450
Monosomy 18P	Hypertension	ORPHA:1598
Mercury Poisoning	Hypertension, Tachycardia, Hypotension	ORPHA:330021
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension	OMIM:613320
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype...	OMIM:301500
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Vocal cord paralysis, Clumsin...	OMIM:211530
Morgagni-Stewart-Morel Syndrome	Hypertension	ORPHA:77296
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypertension, Dilated cardiomyopathy, Cerebral hemorrhage	OMIM:300845
Isovaleric Acidemia	Hyperglycinuria	OMIM:243500
Infant Botulism	Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary...	ORPHA:369929
Pseudohypoaldosteronism, Type Iic	Hypertension	OMIM:614492
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension	OMIM:617763
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Facial diplegia, Hypocholesterolemia, Left ventricular ...	ORPHA:31150
Primary Unilateral Adrenal Hyperplasia	Hypertension, Palpitations, Epistaxis	ORPHA:231580
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction, Congestive...	ORPHA:183
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap...	ORPHA:637
Alagille Syndrome 2	Hypertension, Pulmonic stenosis	OMIM:610205
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R...	ORPHA:758
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypocholesterolemia, D...	ORPHA:90363
Pediatric-Onset Graves Disease	Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia	ORPHA:525731
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171300
19P13.12 Microdeletion Syndrome	Hypospadias, Hyperlipidemia, Obesity, Arthrogryposis multiplex congenita, Hepatic steatosis, Intr...	ORPHA:254346
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased muscle mass, Vocal cord paralysis, Intrinsic hand muscle atrophy, Knee flexion contracture	OMIM:615490
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
Juvenile Polyposis Syndrome	Hypokalemia, Failure to thrive, Hypoalbuminemia	OMIM:174900
Juvenile Polyposis Of Infancy	Patent ductus arteriosus, Short stature, Hypoalbuminemia, Cachexia	ORPHA:79076
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Myoclonus, Type 1 muscle fiber predominance, Increased variability in muscle fiber diameter, Spas...	OMIM:612949
Stiff-Person Syndrome	Hypertension, Tachycardia	OMIM:184850
Glioblastoma	Paralysis	ORPHA:360
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Lmna-Related Cardiocutaneous Progeria Syndrome	Papillary renal cell carcinoma, Hypercholesterolemia, Hypertriglyceridemia, Abnormal intrahepatic...	ORPHA:363618
Ectopic Aldosterone-Producing Tumor	Hypertension, Epistaxis	ORPHA:231632
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Rift Valley Fever	Elevated hepatic transaminase, Paralysis, Paraparesis, Jaundice, Hepatitis, Hemiparesis, Hematuri...	ORPHA:319251
Renal Hypodysplasia/Aplasia 1	Hypertension	OMIM:191830
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Chronic pancreatitis, Hepatocellular carcinoma, H...	OMIM:232240
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hypertension	OMIM:615954
Diffuse Cutaneous Systemic Sclerosis	Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hypertension, Hypertensi...	ORPHA:220393
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Hyperaldosteronism, Familial, Type Iii	Hypertension	OMIM:613677
Ichthyosis, Congenital, Autosomal Recessive 2	Growth delay, Paralysis	OMIM:242100
Inhalational Botulism	Urinary retention, Paralysis	ORPHA:254504
Arterial Calcification, Generalized, Of Infancy, 1	Hypertension, Dilated cardiomyopathy, Congestive heart failure, Myocardial infarction	OMIM:208000
Atelis Syndrome 2	Vitreous hemorrhage, Remnants of the hyaloid vascular system, Attention deficit hyperactivity dis...	OMIM:620185
Werner Syndrome	Hypertension, Telangiectasia of the skin, Congestive heart failure, Myocardial infarction	ORPHA:902
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage	OMIM:618886
Aortic Arch Interruption	Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms...	ORPHA:2299
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hypertension	OMIM:615830
Atypical Werner Syndrome	Skeletal muscle atrophy, Renal neoplasm, Hypertriglyceridemia, Short stature, Delayed puberty, Ca...	ORPHA:79474
Methylcobalamin Deficiency Type Cble	Hypertension	ORPHA:2169
Wiedemann-Rautenstrauch Syndrome	Tremor, Wide penis, Hypertonia, Vesicoureteral reflux, Dilatation of renal calices, Hepatic steat...	ORPHA:3455
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni...	OMIM:619334
Coach Syndrome 1	Hypertension, Portal hypertension	OMIM:216360
Anaplastic Thyroid Carcinoma	Weight loss, Vocal cord paralysis, Abnormal skeletal muscle morphology	ORPHA:142
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti...	OMIM:620278
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ...	ORPHA:91139
Serotonin Syndrome	Hypertension, Tachycardia, Hypotension	ORPHA:43116
Frasier Syndrome	Hypertension	ORPHA:347
Combined Deficiency Of Factor V And Factor Viii	Hematuria, Hyperlipidemia, Hyperuricemia	ORPHA:35909
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Cirrhosis, Familial	Hypertension, Pulmonary arterial hypertension	OMIM:215600
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Paralysis, Abnormality of the spleen, Splenomegaly, Spastic paraplegia, Limb ataxia, He...	ORPHA:2072
Pheochromocytoma/Paraganglioma Syndrome 2	Vocal cord paralysis	OMIM:601650
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension	OMIM:614424
Schimke Immunoosseous Dysplasia	Hypertension, Cerebral ischemia, Pulmonary arterial hypertension, Transient ischemic attack	OMIM:242900
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension	OMIM:615474
Xeroderma Pigmentosum	Short stature, Ataxia, Aminoaciduria, Abnormality of extrapyramidal motor function, Spasticity, F...	ORPHA:910
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel...	ORPHA:324
Alagille Syndrome	Hypertension, Telangiectasia of the skin	ORPHA:52
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame...	OMIM:619461
Bardet-Biedl Syndrome	Hypertension	ORPHA:110
Acth-Independent Macronodular Adrenal Hyperplasia	Hypertension	OMIM:219080
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
Pigmented Nodular Adrenocortical Disease, Primary, 2	Hypertension	OMIM:610475
X-Linked Intellectual Disability, Armfield Type	Short stature, Patent ductus arteriosus, Aminoaciduria, Organic aciduria, Galactosuria	ORPHA:85276
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte...	ORPHA:31826
Alkaptonuria	Nephrolithiasis, Aminoaciduria, Tendon rupture, Thickened Achilles tendon	ORPHA:56
Adenine Phosphoribosyltransferase Deficiency	Hypertension, Atrial fibrillation	ORPHA:976
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Hypertension	OMIM:619758
Arteriosclerosis, Severe Juvenile	Hypertension, Myocardial infarction	OMIM:208060
Arterial Tortuosity Syndrome	Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenosis, Telangiectases of the...	OMIM:208050
Birk-Landau-Perez Syndrome	Hypertension	OMIM:617595
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Small for gestational age, Short stature, Hypospadias, Flexion contracture,...	OMIM:264090
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Postnatal growth retardation, Hyperlipidemia, Flexion contracture, Elbo...	OMIM:248370
Alport Syndrome 2, Autosomal Recessive	Hypertension	OMIM:203780
Overlap Myositis	Raynaud phenomenon, Hypertension, Pulmonary arterial hypertension	ORPHA:206572
Multiple Endocrine Neoplasia, Type Iia	Hypertension, Palpitations	OMIM:171400
Livedoid Vasculopathy	Telangiectasia of the skin, Hypertension, Ischemic stroke	ORPHA:542643
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Hand muscle weakness, Tremor, Vocal cord paralysis, Poor...	ORPHA:99956
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Hypertension, Atrioventricular block	ORPHA:371428
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
Nephronophthisis 1	Hypertension	OMIM:256100
Beta-Ketothiolase Deficiency	Hypertension, Hypotension	ORPHA:134
Porphyria Variegata	Hypertension, Tachycardia	ORPHA:79473
Mandibuloacral Dysplasia With Type B Lipodystrophy	Growth delay, Hyperlipidemia, Flexion contracture, Stage 5 chronic kidney disease	OMIM:608612
Spondyloenchondrodysplasia	Raynaud phenomenon, Hypertension, Vasculitis	ORPHA:1855
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:614052
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb...	OMIM:614748
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive...	ORPHA:94093
Primary Progressive Freezing Gait	Hypertension	ORPHA:75567
Caudal Regression Syndrome	Hypertension	ORPHA:3027
Apparent Mineralocorticoid Excess	Hypertension	ORPHA:320
Neuroblastoma, Susceptibility To, 1	Hypertension	OMIM:256700
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Vocal cord paresis, Distal amyotrophy, Limb muscle weakness	OMIM:601152
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hypertension	ORPHA:449291
Lead Poisoning	Hypertension	ORPHA:330015
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity	ORPHA:2396
Adrenocortical Carcinoma	Hypertension, Palpitations	ORPHA:1501
African Trypanosomiasis	Hepatomegaly, Renal insufficiency, Abnormal central motor function, Involuntary movements, Urinar...	ORPHA:3385
Carney Triad	Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia	ORPHA:139411
Pigmented Nodular Adrenocortical Disease, Primary, 1	Hypertension	OMIM:610489
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Vocal cord paralysis, Sclerosing cholangitis, Hypo...	ORPHA:64744
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l...	ORPHA:91387
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension	ORPHA:1555
Familial Dysautonomia	Hypertension, Orthostatic hypotension, Tachycardia	ORPHA:1764
Renal Hypoplasia, Bilateral	Hypertension	ORPHA:97362
Scorpion Envenomation	Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca...	ORPHA:466677
Pituitary Adenoma 4, Acth-Secreting	Hypertension	OMIM:219090
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension	ORPHA:98808
Wagro Syndrome	Hypertension	OMIM:612469
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia, Short stature, Delayed puberty	ORPHA:90154
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Hypertension, Portal hypertension	OMIM:263200
Pituitary Apoplexy	Hypertension, Hypotension	ORPHA:95613
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Neurogenic bladder, Spasticity, Vocal cord paralysis, Myoclonus	ORPHA:500144
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Ataxia, Small for gestational age, Short stature, Vocal cord paralysis, Gr...	OMIM:617799
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension	OMIM:616914
Nestor-Guillermo Progeria Syndrome	Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S...	OMIM:614008
Degcags Syndrome	Hepatomegaly, Recurrent urinary tract infections, Small for gestational age, Hypospadias, Bilater...	OMIM:619488
Charcot-Marie-Tooth Disease Type 4C	Failure to thrive, Frequent falls, Gait ataxia, Distal amyotrophy, Tongue fasciculations, Head tr...	ORPHA:99949
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Myoclonus, Gait ataxia	ORPHA:70595
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len...	OMIM:619539
Familial Bicuspid Aortic Valve	Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur	ORPHA:402075
Hallermann-Streiff Syndrome	Hypertension, Pulmonary arterial hypertension, Telangiectasia	OMIM:234100
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi...	ORPHA:99827
Renal Hypoplasia	Hypertension	ORPHA:93101
Hurler Syndrome	Cardiomyopathy, Hypertension, Angina pectoris	ORPHA:93473
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Micropenis, Hepati...	ORPHA:64
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo...	OMIM:616503
Low Phospholipid-Associated Cholelithiasis	Hypertension	ORPHA:69663
Aorta Coarctation	Congestive heart failure, Hypertension, Pulmonary arterial hypertension	ORPHA:1457
Alexander Disease	Hypotension, Hypertension, Sudden cardiac death	ORPHA:58
Classic Homocystinuria	Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ...	ORPHA:394
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval	OMIM:614947
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Splenomegaly, Hepatitis, Weight loss, Hypo...	OMIM:619381
Apert Syndrome	Hypertension	ORPHA:87
Native American Myopathy	Skeletal muscle atrophy, Short stature, Abnormality of skeletal muscle fiber size, Congenital con...	ORPHA:168572
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens...	ORPHA:892
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ...	ORPHA:900
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Hypotension	ORPHA:93256
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Portal hypertension, Raynaud phenomenon, Vasculitis, Dilated cardiomyopathy, Hypertension	OMIM:615688
Multisystemic Smooth Muscle Dysfunction Syndrome	Hypertension, Pulmonary arterial hypertension	OMIM:613834
Nephronophthisis-Like Nephropathy 1	Hypertension	OMIM:613159
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Intracranial hemorrhage, Hypertension	ORPHA:90795
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension	OMIM:123790
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, Flexion contracture, Short stature	ORPHA:90153
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Osteopetrosis, Autosomal Recessive 3	Distal renal tubular acidosis, Periodic hypokalemic paresis, Short stature, Hepatosplenomegaly	OMIM:259730
Arnold-Chiari Malformation Type I	Abnormality of the musculature of the lower limbs, Urinary incontinence, Babinski sign, Vocal cor...	ORPHA:268882
Lethal Congenital Contracture Syndrome 10	Macroglossia, Increased variability in muscle fiber diameter, Torticollis, Intrauterine growth re...	OMIM:617022
Posterior Urethral Valve	Hypertension	ORPHA:93110
Acute Intermittent Porphyria	Hypertension, Tachycardia	ORPHA:79276
Kanzaki Disease	Increased urinary O-linked sialopeptides, Aminoaciduria	OMIM:609242
Aromatase Deficiency	Eunuchoid habitus, Hyperlipidemia, Obesity, Growth delay, Hepatic steatosis	ORPHA:91
Renal Agenesis	Hypertension	ORPHA:411709
Alport Syndrome 1, X-Linked	Hypertension	OMIM:301050
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypertension	OMIM:612780
Tropical Endomyocardial Fibrosis	Hepatomegaly, Cachexia, Splenomegaly, Myocardial calcification, Hypoalbuminemia	ORPHA:75565
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Sickle Cell Disease	Hypertension	OMIM:603903
Tsh-Secreting Pituitary Adenoma	Tremor, Weight loss, Hypokalemia, Delayed puberty, Periodic hypokalemic paresis	ORPHA:91347
Mucopolysaccharidosis Type 3	Vocal cord paresis, Hepatomegaly, Ataxia, Heparan sulfate excretion in urine, Splenomegaly, Flexi...	ORPHA:581
Marshall-Smith Syndrome	Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction	OMIM:602535
Prader-Willi Syndrome	Hypertension	ORPHA:739
Aicardi-Goutieres Syndrome 7	Hematemesis, Vasculitis, Hematochezia, Hypertension, Hypertrophic cardiomyopathy	OMIM:615846
Carey-Fineman-Ziter Syndrome	Hypertensive crisis	ORPHA:1358
Williams-Beuren Syndrome	Flexion contracture, Vocal cord paralysis, Nephrocalcinosis, Vesicoureteral reflux, Micropenis, P...	OMIM:194050
Postinfectious Vasculitis	Cerebral vasculitis, Raynaud phenomenon, Cardiomyopathy, Hypertension, Ischemic stroke, Vasculiti...	ORPHA:48435
Senior-Boichis Syndrome	Hypertension, Portal hypertension	ORPHA:84081
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypertension	ORPHA:90793
Bardet-Biedl Syndrome 1	Hypertension	OMIM:209900
Familial Multiple Lipomatosis	Hyperlipidemia	ORPHA:199276
Alport Syndrome	Hypertension	ORPHA:63
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy	OMIM:616720
Hunter-Macdonald Syndrome	Aortic regurgitation, Hypertension, Mitral regurgitation	OMIM:611962
Aspartylglucosaminuria	Hepatomegaly, Aspartylglucosaminuria, Short stature, Macroglossia, Spasticity	OMIM:208400
Familial Osteodysplasia, Anderson Type	Hypertension	ORPHA:2769
Au-Kline Syndrome	Hypertension	OMIM:616580
Pmm2-Cdg	Elevated hepatic transaminase, Multiple joint contractures, Ataxia, Abnormality of coordination, ...	ORPHA:79318
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,...	OMIM:300166
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Hypertension	ORPHA:79443
Von Hippel-Lindau Syndrome	Hypertension	OMIM:193300
Schinzel-Giedion Syndrome	Failure to thrive in infancy, Nephroblastoma, Hypospadias, Vocal cord paralysis, Abnormality of t...	ORPHA:798
Myhre Syndrome	Hypertension	ORPHA:2588
Blau Syndrome	Hypertension, Pericarditis	OMIM:186580
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypertension	ORPHA:95699
Nelson Syndrome	Intracranial hemorrhage, Hypertension	ORPHA:199244
Glossopharyngeal Neuralgia	Vocal cord paralysis, Weight loss	ORPHA:221098
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Congestive heart failure	OMIM:181270
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic...	ORPHA:740
Denys-Drash Syndrome	Hypertension	OMIM:194080
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Hypertension, Hypertensive crisis	ORPHA:544482
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hypertension	OMIM:266920
Acute Transverse Myelitis	Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage	ORPHA:139417
Mucopolysaccharidosis Type 2, Severe Form	Cardiomyopathy, Arrhythmia, Hypertension, Heart murmur	ORPHA:217085
Cockayne Syndrome B	Hypertension, Arrhythmia	OMIM:133540
Orofaciodigital Syndrome I	Hypertension	OMIM:311200
Cockayne Syndrome A	Hypertension, Arrhythmia	OMIM:216400
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypertension	OMIM:202010
Mucopolysaccharidosis Type 2, Attenuated Form	Cardiomyopathy, Arrhythmia, Hypertension, Heart murmur	ORPHA:217093
Holoprosencephaly 2	Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Xq21 Microdeletion Syndrome	Hypertension	ORPHA:1435
Arima Syndrome	Hypertension	OMIM:243910
Mucopolysaccharidosis Type 2	Cardiomyopathy, Arrhythmia, Hypertension	ORPHA:580
Orofaciodigital Syndrome Type 1	Hypertension	ORPHA:2750
Generalized Glucocorticoid Resistance Syndrome	Hypertension	ORPHA:786
Myhre Syndrome	Hypertension, Aortic valve stenosis	OMIM:139210
Cranioectodermal Dysplasia 2	Hypertension	OMIM:613610
Scalp-Ear-Nipple Syndrome	Hypertension	ORPHA:2036
Adams-Oliver Syndrome 1	Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Pulmonic stenosis	OMIM:100300
Cockayne Syndrome	Hypertension, Retinal hemorrhage	ORPHA:191
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Elevated hepatic transaminase, Short stature, Hyperlipidemia, Hyperkalemia, Obesity...	ORPHA:293987
Feingold Syndrome 1	Accessory spleen, Asplenia, Patent ductus arteriosus, Vocal cord paralysis, Polysplenia, Annular ...	OMIM:164280
Hardikar Syndrome	Hematemesis, Hypertension, Portal hypertension	OMIM:301068
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Homocystinuria	OMIM:601552
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Heart murmur, Abnormal left ventric...	ORPHA:391665
Aspartylglucosaminuria	Splenomegaly, Macroglossia, Aspartylglucosaminuria, Hepatomegaly	ORPHA:93
Yunis-Varon Syndrome	Pulmonary arterial hypertension, Hypertension, Renovascular hypertension, Cardiomyopathy	ORPHA:3472
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Flexion contracture of the 2nd finger, Unilateral vocal cord paralysis, Joint contracture of the ...	ORPHA:324540
Esophageal Atresia	Small for gestational age, Failure to thrive in infancy, Renal agenesis, Growth delay, Hypertonia...	ORPHA:1199
Systemic Lupus Erythematosus	Raynaud phenomenon, Hypertension	ORPHA:536
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Hypertension, Portal hypertension	ORPHA:731
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Renovascular hypertension, Hypertension, Pulmonic stenosis, Pulmonary...	ORPHA:97685
Acromegaly	Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy	ORPHA:963
Somatomammotropinoma	Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy	ORPHA:314769
Cushing Disease	Hypertension, Capillary fragility, Myocardial infarction	ORPHA:96253
Woodhouse-Sakati Syndrome	Hyperlipidemia, Growth delay, Choreoathetosis, Delayed puberty, Micropenis	ORPHA:3464
Multiple Endocrine Neoplasia Type 2	Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma	ORPHA:653
Williams Syndrome	Sudden cardiac death, Myocardial infarction, Congestive heart failure, Renovascular hypertension,...	ORPHA:904
Blau Syndrome	Hypertension, Pericarditis, Pulmonary arterial hypertension, Large vessel vasculitis	ORPHA:90340
Tuberous Sclerosis Complex	Hypertension, Internal hemorrhage	ORPHA:805
Woodhouse-Sakati Syndrome	Choreoathetosis, Hyperlipidemia, Abnormality of extrapyramidal motor function, Micropenis	OMIM:241080
Multiple Endocrine Neoplasia Type 1	Melena, Hypertension, Shortened QT interval, Hematemesis	ORPHA:652
Neurofibromatosis, Type I	Hypertension	OMIM:162200
Van Esch-O'Driscoll Syndrome	Short stature, Unilateral vocal cord paralysis, Growth delay, Intrauterine growth retardation, Sp...	OMIM:301030
Bartter Syndrome Type 4	Hypertension	ORPHA:89938
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Hypertension, Myocardial infarction	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Hypertension, Myocardial infarction	ORPHA:99228
Monosomy X	Prolonged QT interval, Hypertension, Myocardial infarction	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Hypertension, Myocardial infarction	ORPHA:881
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Corneal neovascularization, Hypertensive crisis	ORPHA:567
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy	OMIM:220111
Renal Dysplasia	Hypertension	ORPHA:93108
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hypertension	OMIM:210710
Pineoblastoma	Paralysis	ORPHA:251909
Neurofibromatosis Type 1	Hypertension	ORPHA:636
Congenital Disorder Of Glycosylation, Type Iim	Hypertension	OMIM:300896
Keutel Syndrome	Hypertension, Pulmonic stenosis	OMIM:245150
Codas Syndrome	Vocal cord paresis, Short stature	OMIM:600373
Generalized Arterial Calcification Of Infancy	Transient ischemic attack, Retinal hemorrhage, Hypertension, Weak pulse, Left ventricular systoli...	ORPHA:51608
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Hypertension, Corneal neovascularization	OMIM:308205
Vascular Ehlers-Danlos Syndrome	Telangiectasia of the skin, Transient ischemic attack, Renovascular hypertension, Hypertension, I...	ORPHA:286
Cushing Syndrome Due To Ectopic Acth Secretion	Hypertension, Capillary fragility, Myocardial infarction	ORPHA:99889
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypertension	OMIM:201750
Carney Complex	Hypertension, Congestive heart failure	ORPHA:1359

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 Cth

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 Cth.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Sodium thiosulfate acts as a hydrogen sulfide mimetic to prevent intimal hyperplasia via inhibition of tubulin polymerisation.	EBioMedicine (March 2022)	Cth^{tm1a(EUCOMM)Hmgu;}	PMC8941337

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MGI Allele	Allele Type	Produced
Cth^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Cth^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Cth^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cth MGI:1339968

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Electrocardiogram (ECG)

X-ray

Human diseases caused by Cth mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data