Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Dguok MGI:1351602

Gene Summary

Name:

deoxyguanosine kinase

Synonyms:

dGK

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
decreased bone mineral density	Dguok^em1(IMPC)J	HOM	Early adult	8.64×10^-08
decreased lean body mass	Dguok^em1(IMPC)J	HOM	Early adult	9.49×10^-06
female infertility	Dguok^em1(IMPC)J	HOM	Early adult	0.00
increased bone mineral content	Dguok^em1(IMPC)J	HOM	Early adult	5.04×10^-07
abnormal locomotor behavior	Dguok^em1(IMPC)J	HOM	Early adult	6.99×10^-06
increased grip strength	Dguok^em1(IMPC)J	HOM	Early adult	1.05×10^-20
increased total body fat amount	Dguok^em1(IMPC)J	HOM	Early adult	6.49×10^-06
decreased locomotor activity	Dguok^em1(IMPC)J	HOM	Early adult	1.79×10^-09
decreased exploration in new environment	Dguok^em1(IMPC)J	HOM	Early adult	9.59×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

View images

Auditory Brain Stem Response

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

2 Images

View images

Human diseases caused by Dguok 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 Dguok (4 diseases)
Human diseases predicted to be associated with Dguok (782 diseases)

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

Disease	Matching phenotypes	Source
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Decreased activity of mitochondrial complex III, Hepatocellular necrosis, Hypoalbuminemia, Decrea...	OMIM:251880
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Elevated circulating creatine kinase concentration	OMIM:617070
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Dementia, Ataxia, Cognitive impairment, Depression	ORPHA:329314

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

Disease	Matching phenotypes	Source
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati...	OMIM:620357
Premature Ovarian Failure 2B	Primary amenorrhea, Premature ovarian insufficiency, Osteoporosis, Female infertility	OMIM:300604
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Decreased activity of mitochondrial complex III, Hepatocellular necrosis, Hypoalbuminemia, Decrea...	OMIM:251880
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo...	OMIM:615703
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ...	OMIM:612526
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Abnormal mitochondrial shape...	ORPHA:17
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com...	OMIM:618378
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri...	OMIM:613070
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent...	OMIM:618805
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Mitochondrial hypertrophy, Failure to thrive, Elevated circulating creatine kinase concentration	OMIM:619518
Mpi-Cdg	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hypoalb...	ORPHA:79319
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Bilateral fetal pyelectasis, Decreased fumarate hydratase ac...	OMIM:606812
Mitochondrial Complex I Deficiency, Nuclear Type 29	Lacticaciduria, Stage 5 chronic kidney disease, Abnormal heart morphology, Decreased activity of ...	OMIM:618250
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran...	OMIM:617093
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Muscular Dystrophy, Congenital, Megaconial Type	Mitochondrial hypertrophy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentra...	OMIM:602541
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated gamma-...	OMIM:278000
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Flexion contracture, Dilated ca...	ORPHA:367
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Pigmentary retinopathy, Cardiomyopathy, Decreased 3-hydroxyacyl-CoA d...	OMIM:609016
Dna2-Related Mitochondrial Dna Deletion Syndrome	Elevated creatine kinase after exercise, Multiple joint contractures, Slender build, Decreased mi...	ORPHA:352470
Alg6-Cdg	Abnormal circulating enzyme concentration or activity, Jaundice, Decreased LDL cholesterol concen...	ORPHA:79320
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic failure, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosi...	OMIM:602579
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased mitochondrial number, Mildly elevated creatine kinase	ORPHA:457050
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Decre...	OMIM:242150
Galactokinase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Small for gestational age, H...	ORPHA:79237
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Hypoplast...	OMIM:608836
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Adipose tissue loss, Insuli...	ORPHA:528
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated ci...	OMIM:619048
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Cholestasis, Ascites...	OMIM:608104
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:615158
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insuffici...	ORPHA:1667
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Weight loss, Hypoalbuminemia	ORPHA:507
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla...	OMIM:619386
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Mitochondrial swelling, Mildly elevated creatine kinase	ORPHA:397744
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Cardiomegaly	ORPHA:88643
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Abnormal heart morphology, Nephrotic syndrome, Ca...	ORPHA:79327
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu...	ORPHA:88618
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Thic...	ORPHA:263501
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic...	ORPHA:42
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Neurogenic bladder, Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, De...	OMIM:500013
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Elevated circulating tiglylglycine concentration, Hypoglycemia, Abno...	OMIM:300438
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Synophry...	OMIM:619064
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic...	OMIM:619013
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Portal hypertensi...	OMIM:619487
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Hematuria, Nephrotic sy...	OMIM:608709
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Analbuminemia	Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr...	OMIM:616000
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Trichohepatoenteric Syndrome 1	Brittle hair, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Hepatomegaly, Hypospadias, Abnormal...	OMIM:222470
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Fast...	ORPHA:264580
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, 3-Methylglutaconic aciduria, Hypoalbuminemia, Macrov...	OMIM:618329
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Co...	OMIM:617156
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	OMIM:151660
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesangial hypercell...	OMIM:617575
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Hypoglycemia...	ORPHA:369
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility	ORPHA:488191
Barth Syndrome	Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis	ORPHA:111
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Absence of subcutaneou...	OMIM:610965
Immunodeficiency 27A	Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Weight loss	OMIM:209950
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape	OMIM:610773
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Synophrys, Flexion contracture, Low anterior hairline, L...	OMIM:617303
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypotriglyceridemia, Hypoc...	OMIM:246700
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, E...	ORPHA:2394
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci...	OMIM:610717
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa...	OMIM:308240
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Pericardial effusion, Abn...	OMIM:212065
Galloway-Mowat Syndrome 6	Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased b...	OMIM:618347
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:614652
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul...	OMIM:603553
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Immunodeficiency 32B	Splenomegaly, Hepatomegaly, Failure to thrive, Hypoalbuminemia	OMIM:226990
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hypopigmentati...	ORPHA:101330
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab...	ORPHA:85443
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Elevated circulating creati...	ORPHA:228305
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe...	ORPHA:69663
Autoinflammation With Infantile Enterocolitis	Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circulating ferrit...	OMIM:616050
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph...	OMIM:616730
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Small for gestational age, Ventricular septal defect, Hematuria, Hypoalbuminemi...	OMIM:617021
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Lacticaciduria, H...	OMIM:619063
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g...	ORPHA:84090
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat...	OMIM:256300
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato...	OMIM:276700
Neonatal Hemochromatosis	Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal...	ORPHA:446
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:540
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Atrial septal defect, Hype...	OMIM:620211
Refractory Celiac Disease	Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Hypophosphatemia, We...	ORPHA:398063
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Failure to thrive, Abnormal mitochondrial shape	ORPHA:543470
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Hypoglycemia, Elevated circ...	OMIM:232400
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor...	OMIM:615382
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney	OMIM:615285
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu...	OMIM:277900
Dystonia-Aphonia Syndrome	Abnormal urinary odor, Abnormal mitochondrial shape	ORPHA:412217
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglycemic seizures, Hepatic...	ORPHA:71212
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta...	ORPHA:324575
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria	ORPHA:79238
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Decr...	OMIM:619055
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin, Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kin...	OMIM:615980
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:79333
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Hypoglycemia,...	OMIM:615160
Congenital Myopathy 11	Elevated hepatic transaminase, Abnormal activity of mitochondrial respiratory chain, Abnormal cir...	OMIM:619967
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight...	OMIM:616222
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Abnormal pericardium morphology, Weight loss, Eleva...	ORPHA:67
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight...	ORPHA:890
Alg12-Cdg	Hyponatremia, Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activit...	ORPHA:79324
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,...	ORPHA:186
Primary Sclerosing Cholangitis	Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated a...	ORPHA:171
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa...	ORPHA:2457
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypoglycemia, Hyperlipidemia, Nephrolit...	OMIM:232200
Idiopathic Achalasia	Decreased prealbumin level, Weight loss	ORPHA:930
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Cardiomegaly, Increased...	OMIM:235200
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Abnormality...	ORPHA:14
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated...	OMIM:212140
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Calcinosis, Al...	OMIM:248370
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephrocalcinosis, Aminoaciduria, Elevated ga...	OMIM:208085
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape	ORPHA:485421
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:255120
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	ORPHA:90003
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Hepatocellular carcinom...	ORPHA:465508
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ...	ORPHA:470
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased body weight, Decreased serum iron, Flexion contracture, Dilated cardiomyopathy, Atypica...	ORPHA:89842
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Decreased activity of mitochondrial complex IV, Decr...	OMIM:613561
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, Cachexia, Splenomegaly, Ab...	ORPHA:37042
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Abnormal hair morpholo...	ORPHA:1979
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decreased activity o...	OMIM:245400
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Increased adipose tissue, Hyperinsulinemia, Obesity, Cholestasis, H...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Increased adipose tissue, Hyperinsulinemia, Obesity, Cholestasis, H...	ORPHA:71526
Mantle Cell Lymphoma	Splenomegaly, Weight loss	ORPHA:52416
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hypoglycemia, Sple...	OMIM:232220
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Dicarboxylic acidu...	ORPHA:99901
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Preeclampsia	Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Abnormality ...	ORPHA:275555
Congenital Enterovirus Infection	Fetal ascites, Pericardial effusion, Myocarditis, Hepatitis, Cholestasis, Hyperammonemia, Cardiom...	ORPHA:292
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Decreased li...	OMIM:246900
2P21 Microdeletion Syndrome	Hypoglycemia, Mitochondrial respiratory chain defects, Nephrolithiasis, Cystinuria, Long eyelashe...	ORPHA:163693
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta...	ORPHA:53035
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, Inc...	OMIM:617872
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm...	ORPHA:85445
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati...	OMIM:619355
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ...	ORPHA:3032
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Liver abscess, Abnormality of the kidney, Elevated circulating C-r...	ORPHA:54251
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Hypopigmentation of hair, Decreased activi...	ORPHA:70472
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Abnormali...	ORPHA:298
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Generalized hyperpigmentation, Diabetes mellitus, Increased circul...	ORPHA:79230
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Infantile Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Nephr...	OMIM:269920
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Long pen...	ORPHA:508
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce...	OMIM:300972
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Eosinophilic Gastroenteritis	Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia, Steatorrhea,...	ORPHA:2070
H Syndrome	Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Lipodystrophy, Abnormality of the ki...	ORPHA:168569
Lysosomal Acid Lipase Deficiency	Renal salt wasting, Microvesicular hepatic steatosis, Hepatic fibrosis, Hyponatremia, Hepatosplen...	ORPHA:275761
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Ventricular septa...	OMIM:613404
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Spastic Paraplegia Type 7	Urinary urgency, Abnormal mitochondrial morphology	ORPHA:99013
Smith-Magenis Syndrome	Hypertriglyceridemia, Synophrys, Abnormal renal morphology, Increased body weight, Abnormal heart...	OMIM:182290
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia	ORPHA:329249
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti...	ORPHA:228308
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Aciduria, Elevated c...	OMIM:617950
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,...	OMIM:231100
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert...	OMIM:615381
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Hepatic steatosis, Inguinal hernia, Recurrent urinary tract infect...	OMIM:613658
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Organic aciduria, Propionyl-CoA carbo...	ORPHA:35
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Proteinuria, Thick hair, Heparan sulfate excretion in urine,...	ORPHA:505248
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Melanin pigment...	OMIM:607624
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hepatomegaly, Ascites, Hypoalbuminemia	OMIM:226300
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Decr...	OMIM:614702
Ataxia-Telangiectasia	Elevated hepatic transaminase, Abnormality of chromosome stability, Hypopigmentation of hair, Dia...	ORPHA:100
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
9Q31.1Q31.3 Microdeletion Syndrome	Bicuspid aortic valve, Thick hair, Highly arched eyebrow, Overweight, Dilated cardiomyopathy, Ren...	ORPHA:401923
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Nephrolithiasis, Decreased mitochondrial number, Dilated cardiomyopathy, Elevated circulating cre...	ORPHA:352447
Pulmonary Blastoma	Weight loss	ORPHA:64741
Bacterial Toxic-Shock Syndrome	Fasciitis, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine...	ORPHA:36234
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:86893
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A...	ORPHA:209902
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Pericardial effusion, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnes...	ORPHA:90362
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatome...	ORPHA:79259
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Abnormal circulati...	ORPHA:79303
Erythrokeratodermia Variabilis	Alopecia, Diabetes mellitus, Hypermelanotic macule, Abnormal hair morphology, Weight loss, Abnorm...	ORPHA:317
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Decreased activity of mitochondrial complex IV, Weight loss, Aminoaciduria, Proximal tu...	OMIM:612075
Fanconi-Bickel Syndrome	Hepatocellular carcinoma, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elev...	ORPHA:2088
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Abnormal cir...	ORPHA:263455
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta...	OMIM:208540
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:617713
Barth Syndrome	Failure to thrive, Dilated cardiomyopathy, Abnormal mitochondrial morphology, 3-Methylglutaconic ...	OMIM:302060
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Cryptorchidism, Obesity, Truncal...	ORPHA:96184
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young	ORPHA:254531
Laron Syndrome	Truncal obesity, Hypoplasia of penis, Hypercholesterolemia, Hypoglycemia	ORPHA:633
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He...	OMIM:235555
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver...	OMIM:615415
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Dicarboxylic acidur...	ORPHA:289504
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Increased mitochondrial number, Diabetes mellitus, Ventricular septal hy...	ORPHA:263297
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Ascites, Weight loss	ORPHA:2198
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c...	OMIM:602088
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ...	OMIM:619534
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pancreatic cys...	ORPHA:730
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Weight loss	ORPHA:100083
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Atrial septal defect, Pericardial lymphangiectasia, Ventricular septal defect, Ectopic kidney, Pe...	OMIM:235510
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn...	ORPHA:159
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Uruguay Faciocardiomusculoskeletal Syndrome	Elevated hepatic transaminase, Ventricular hypertrophy, Thick eyebrow, Left ventricular hypertrop...	OMIM:300280
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a...	OMIM:613490
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Obesity, Hyperuricemia, Hypercholesterolemia, Hirsutism	ORPHA:77296
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Incre...	ORPHA:905
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ...	ORPHA:65682
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Cachexia, Decreased activity of mitochondrial complex IV, Weight loss, Decreased activity of mito...	OMIM:613662
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Inguinal hernia, Large for gestational age, Umbilical hernia, Nephroblastoma, Enlarged kidney	OMIM:618272
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy	ORPHA:100024
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis...	ORPHA:75563
Alagille Syndrome 1	Multiple small medullary renal cysts, Vesicoureteral reflux, Atrial septal defect, Renal hypoplas...	OMIM:118450
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co...	OMIM:609015
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:617049
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminot...	OMIM:261680
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Decreased activity of mitochondrial ATP synthase complex, Elevated circulating creatine kinase co...	OMIM:618120
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Hyperammonemia, De...	OMIM:615453
Griscelli Syndrome	Abnormal eyebrow morphology, Hepatomegaly, Abnormal eyelash morphology, Silver-gray hair, Splenom...	ORPHA:381
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Weight loss	ORPHA:2494
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Failure to t...	ORPHA:67048
Aredyld Syndrome	Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Abnormality...	ORPHA:1133
Polymyositis	Hepatomegaly, Pericarditis, Elevated circulating creatine kinase concentration, Dilated cardiomyo...	ORPHA:732
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis	OMIM:261650
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postp...	ORPHA:2089
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele...	ORPHA:100085
Squalene Synthase Deficiency	Failure to thrive in infancy, Hypospadias, Bicuspid aortic valve, Increased circulating farnesol ...	OMIM:618156
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating...	OMIM:616860
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati...	ORPHA:26791
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ...	OMIM:612310
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Renal tubular acidosis, Transient hype...	ORPHA:156
Premature Ovarian Failure 13	Oligomenorrhea, Female infertility, Amenorrhea	OMIM:617442
Frontotemporal Dementia With Motor Neuron Disease	Abnormal mitochondrial morphology	ORPHA:275872
Griscelli Syndrome Type 2	Hepatomegaly, Hypopigmentation of hair, Partial albinism, Splenomegaly, Hyperlipidemia, Jaundice,...	ORPHA:79477
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529808
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Hypertriglyceridemia, Lipoat...	ORPHA:363618
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Generalized hyperpigmentatio...	ORPHA:79086
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Cachexia, ...	ORPHA:2930
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight loss, ...	ORPHA:2126
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, ...	OMIM:616026
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney...	ORPHA:567546
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Small for gestational age, Proteinuria, Hiatus ...	OMIM:251300
Fanconi-Bickel Syndrome	Elevated gamma-glutamyltransferase level, Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouric...	OMIM:227810
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disease, Nephroti...	OMIM:617729
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, N...	ORPHA:116
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Scarring, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticul...	ORPHA:79396
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Hypoalbuminemia, Hypernatremia, Pulmonic stenosis, ...	OMIM:615508
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Inguinal hernia, Brittle hair, Hypopigmentation of the skin, Increased serum beta-h...	OMIM:252500
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Diaphanospondylodysostosis	Inguinal hernia, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulati...	OMIM:608022
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph...	OMIM:618348
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Tuberculosis	Weight loss	ORPHA:3389
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Pericardial effusion, Cryptorchidism, Hypoalbuminem...	OMIM:618183
Smith-Lemli-Opitz Syndrome	Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Atrial septal defect, Micropenis, Hepatic steat...	OMIM:270400
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Hypoplastic toenails, Biliary atresia, Dextrotransposition of the great a...	OMIM:306955
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Weight loss, Hematuria, Neoplasm of the liver	ORPHA:69077
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta...	OMIM:619484
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Proteinuria, Bilateral cryptorchidism, Obesity, Atrial septal defe...	OMIM:619471
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatic steatosis, Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoacid...	OMIM:231680
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Increased proinsulin:insulin...	ORPHA:94086
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Renal hypoplasia/aplasia, Synophrys, Abnormal...	ORPHA:819
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Decreased activity of mitochondrial comp...	OMIM:256810
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Hypercholesterolemia, Prolonged neonatal jaundice, Macroorchidism, Umbilical h...	ORPHA:90674
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Nephrocalcinosis, Hyp...	ORPHA:90041
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Sitosterolemia 1	Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concentration, Elevated ...	OMIM:210250
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia	OMIM:143500
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Biliary tract abnormality, Obesity, Membranous subvalvular aortic stenosis, Type...	ORPHA:3191
Obesity And Hypopigmentation	Red hair, Hyperinsulinemia, Hepatic steatosis, Obesity	OMIM:620195
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinas...	OMIM:201475
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Mody	Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,...	ORPHA:552
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Decreased activity of mi...	OMIM:619170
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob...	ORPHA:261529
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Dark yellow urine, Conjug...	ORPHA:30391
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Dicarboxylic aciduria, Hypo...	OMIM:212138
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:42642
X-Linked Agammaglobulinemia	Alopecia, Hepatitis, Hypopigmented skin patches, Weight loss, Hypocalcemia, Cellulitis, Failure t...	ORPHA:47
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp...	ORPHA:251004
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Small for gestational age, Hypospadias, Cardiomegaly, Cryptorchidism, Perim...	OMIM:620135
Lymphoid Interstitial Pneumonia	Hepatomegaly, Weight loss, Abnormality of connective tissue, Failure to thrive, Enlarged kidney	ORPHA:79128
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In...	ORPHA:210136
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Hyperalani...	OMIM:266150
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Pleural Mesothelioma	Hepatomegaly, Weight loss	ORPHA:50251
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Weight loss, Hernia, Atrial septal defect, Hypertrophic cardiomyopathy, Failure to ...	ORPHA:1842
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Type II diabetes mellitus, Hypertrophic cardiom...	ORPHA:225
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Chylous ascites, Hypoalbuminemia, Cirrhosis, Hypoc...	ORPHA:90363
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hyperammonemia, Hypoglycemia, Pancreatitis, Decreased activity of mitochondrial complex III	OMIM:620137
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:26793
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Failure ...	OMIM:143880
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:66661
Reticular Dysgenesis	Failure to thrive, Abnormality of mitochondrial metabolism, Weight loss	ORPHA:33355
Meckel Syndrome, Type 8	Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:614921
Aromatase Deficiency	Osteopenia, Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic ...	ORPHA:91
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Splenomegaly, Hyperammonemia, Aminoaciduria, Hepatic failure	ORPHA:664
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul...	OMIM:613327
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato...	OMIM:611126
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Sparse scalp h...	OMIM:606721
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Renal insufficiency, Pericarditis, Hypoglycemia, Elevated circulat...	ORPHA:99826
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Cryptorchidism, Pancreatic hyperp...	OMIM:130650
Wolman Disease	Hepatomegaly, Cachexia, Splenomegaly, Ascites, Steatorrhea, Hepatic failure	ORPHA:75233
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Hypoglycemia, Elevated circulating creatine kinase concentratio...	OMIM:608779
Combined Oxidative Phosphorylation Deficiency 18	Decreased activity of mitochondrial complex I, Increased mitochondrial number, Methylmalonic acid...	OMIM:615578
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Insulin resistance, Hirsutism, ...	ORPHA:90301
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal...	ORPHA:84081
Attrv30M Amyloidosis	Cardiomegaly, Weight loss, Cardiomyopathy, Nephropathy, Abnormal renal physiology	ORPHA:85447
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Alopecia, Hypertriglyceri...	OMIM:203800
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism...	ORPHA:171876
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Elevated circulating C-reactive protei...	ORPHA:829
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Recurrent urinary tract infections, Generaliz...	ORPHA:361
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh...	OMIM:619377
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Diabetes mellitus, Foot joint contracture, Achilles tendon contracture, Aplasia/Hyp...	ORPHA:456312
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Brittle hair, Hypoglycemia, Cholangitis, Microve...	OMIM:124000
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Renal insufficiency, Hypercholesterolemia, Camptodactyly of finger, Elevated c...	OMIM:309000
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating aspartate amino...	OMIM:620300
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Nonketotic hypoglycem...	ORPHA:20
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemi...	OMIM:251000
Alg9-Cdg	Omphalocele, Hepatomegaly, Hypoplasia of the bladder, Lipodystrophy, Ureteral hypoplasia, Ventric...	ORPHA:79328
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Hypospadias, Splenomegaly, Weight loss, Hepatosplenomegaly, Hypertrophic cardiomyop...	OMIM:613673
Propionic Acidemia	Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Hyperglycinuria, Hyperammo...	OMIM:606054
Overlap Myositis	Elevated hepatic transaminase, Diabetes mellitus, Elevated circulating creatine kinase concentrat...	ORPHA:206572
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Cach...	ORPHA:83469
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Car...	OMIM:616483
Leigh Syndrome	Multiple joint contractures, Decreased activity of mitochondrial complex III, Complex organic aci...	ORPHA:506
Syndromic Diarrhea	Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Hepatic fibrosis, Hepatoblastoma, ...	ORPHA:84064
Focal Myositis	Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Obesity, Cholestasis, Hypoglycemic seizures, Hyperbilirubin...	OMIM:609734
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Elevated circula...	ORPHA:330001
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Proximal tubulopathy, De...	ORPHA:2609
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin...	ORPHA:308552
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Elevated circulating creatine kinase concentration, Cachexia, Methylmalonic aciduria, Aminoacidur...	ORPHA:1933
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Micronodular cirrhos...	ORPHA:98907
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, W...	ORPHA:767
Liver Disease, Severe Congenital	Dry hair, Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron c...	OMIM:619991
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic re...	OMIM:200995
Juvenile Polyposis Of Infancy	Cachexia, Abnormal heart morphology, Hypoalbuminemia, Atrial septal defect, Subcutaneous lipoma	ORPHA:79076
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri...	OMIM:269700
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr...	ORPHA:370348
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic...	OMIM:300855
Majeed Syndrome	Hepatomegaly, Glomerulopathy, Proteinuria, Cachexia, Microscopic hematuria, Splenomegaly, Flexion...	ORPHA:77297
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri...	OMIM:608594
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Classic Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:391
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper...	OMIM:618641
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Nocturia, Weight loss	ORPHA:178029
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, ...	ORPHA:75565
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Hypospadias, Cachexia, Thin eyebrow, ...	ORPHA:3242
Moynahan Syndrome	Sparse hair, Alopecia, Cachexia	ORPHA:2574
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia	ORPHA:134
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Intrahepatic cholestasi...	ORPHA:97283
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Acquired Aneurysmal Subarachnoid Hemorrhage	Left ventricular hypertrophy, Hypercholesterolemia, Hyperglycemia	ORPHA:90065
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:348
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Alopecia, Weight loss, Hypocalcemia, Steatorrhea, Type I diabetes ...	OMIM:212750
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F...	OMIM:617591
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal...	ORPHA:57777
Felty Syndrome	Hepatomegaly, Recurrent urinary tract infections, Generalized hyperpigmentation, Pericarditis, Sp...	ORPHA:47612
Glutaric Acidemia I	Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Reduced peroxisomal glutaryl-CoA oxidas...	OMIM:231670
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Weight loss	ORPHA:545
Aggressive Systemic Mastocytosis	Portal hypertension, Hypersplenism, Hepatosplenomegaly, Weight loss, Elevated circulating alkalin...	ORPHA:98850
Late-Onset Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, He...	ORPHA:199299
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly, Panniculitis, Weight loss	ORPHA:33577
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypospadias, Nail dystrophy, Small nail, Hypercholesterolemia, Decreased te...	OMIM:610644
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Weight loss, Knee flexion contracture, Pigmentary retinopathy, Vesi...	ORPHA:3208
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Intrahepatic cholestasi...	ORPHA:97282
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weight loss, Steatorrhea, F...	ORPHA:95427
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97278
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Renal insufficiency, Sparse eyelashes, Proteinuria, Sparse eyebrow, Fine hair,...	OMIM:614748
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Hernia, Weight loss	ORPHA:26790
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Glomerulopathy,...	ORPHA:534
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Hypermelanotic macule, Weight loss	ORPHA:33276
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val...	ORPHA:75566
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Lipodystrophy, Proteinu...	ORPHA:79318
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat...	ORPHA:1333
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen...	OMIM:618280
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Increased urinary potassium, Chroni...	ORPHA:3337
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ...	ORPHA:300298
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methyl...	OMIM:210200
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ...	ORPHA:71
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight loss	ORPHA:100080
Gm1 Gangliosidosis	Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Splenomegaly, Weight loss, H...	ORPHA:354
Renal Cysts And Diabetes Syndrome	Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, A...	OMIM:137920
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Myocarditis, Hepatitis...	ORPHA:139402
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Splenomegaly, Hepatitis, Weight loss, Hypo...	OMIM:619381
Huntington Disease	Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss	ORPHA:399
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:99978
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Weight loss, Generalized hirsutism	ORPHA:2221
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Small for gestational age, Ventricular sep...	ORPHA:860
Holocarboxylase Synthetase Deficiency	Alopecia, Organic aciduria, Hyperammonemia, Weight loss	ORPHA:79242
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglyc...	OMIM:229600
Hyperparathyroidism, Transient Neonatal	Inguinal hernia, Unilateral renal agenesis, Elevated circulating alkaline phosphatase concentrati...	OMIM:618188
Juvenile Polyposis Syndrome	Hypokalemia, Failure to thrive, Hypoalbuminemia	OMIM:174900
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Weight loss	ORPHA:1332
Chronic Hiccup	Weight loss	ORPHA:396
Kennedy Disease	Abnormal circulating lipid concentration, Testicular atrophy, Type II diabetes mellitus	ORPHA:481
Mcdonough Syndrome	Cryptorchidism, Synophrys, Cachexia	ORPHA:2471
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	ORPHA:668
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal...	OMIM:301068
Acute Adrenal Insufficiency	Hyponatremia, Decreased circulating cortisol level, Renal insufficiency, Hypoglycemia, Hypercalce...	ORPHA:95409
Castleman Disease	Renal insufficiency, Abdominal mass, Elevated circulating C-reactive protein concentration, Jaund...	ORPHA:160
Deafness-Lymphedema-Leukemia Syndrome	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:3226
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, In...	OMIM:616541
Whipple Disease	Hyponatremia, Hepatomegaly, Pericarditis, Generalized hyperpigmentation, Cachexia, Splenomegaly, ...	ORPHA:3452
Non-Functioning Paraganglioma	Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Weight los...	ORPHA:94080
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Abnormal pericardium morphology, Pancreatic cyst...	ORPHA:284
Mosaic Trisomy 9	Hypoplasia of penis, Ventricular septal defect, Camptodactyly of finger, Dextrocardia, Abnormal h...	ORPHA:99776
Bronchial Neuroendocrine Tumor	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight loss, Increased circulating cortis...	ORPHA:97287
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Intrahepatic cholestasi...	ORPHA:97280
Acrodysostosis 2 With Or Without Hormone Resistance	Diabetes mellitus, Hypospadias, Cryptorchidism, Blue irides, Obesity, Red hair, Fair hair	OMIM:614613
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox...	OMIM:201450
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric...	ORPHA:781
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec...	OMIM:314390
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Acute hyperammonemia, Ketonuria, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Organic...	OMIM:210210
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Reduced renal corticomedullary differentiat...	OMIM:618541
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Ventricular s...	OMIM:619418
Primary Myelofibrosis	Hepatomegaly, Portal hypertension, Cachexia, Splenomegaly, Hepatosplenomegaly, Increased circulat...	ORPHA:824
Familial Cervical Artery Dissection	Diabetes mellitus, Abnormal circulating lipid concentration, Abnormality of connective tissue	ORPHA:36382
Diencephalic Syndrome	Long penis, Cachexia, Decreased body weight	ORPHA:1672
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Abnormal circulating creatin...	ORPHA:440437
Stiff Skin Syndrome	Type II diabetes mellitus, Abnormal circulating lipid concentration, Lipoatrophy, Nephrolithiasis	ORPHA:2833
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir...	ORPHA:49041
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97261
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Aplasia of the right hemidiaphragm, Ventricular septal d...	OMIM:608978
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Pericardial effusion, Hepatosplenomegaly, Abnormal spleen morphol...	ORPHA:464329
Isaacs Syndrome	Weight loss	ORPHA:84142
Neuhauser Syndrome	Hypercholesterolemia, Low anterior hairline	OMIM:249310
19Q13.11 Microdeletion Syndrome	Hypospadias, Ventricular septal defect, Cachexia, Supernumerary nipple, Cryptorchidism, Fine hair...	ORPHA:217346
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight loss	ORPHA:100082
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Panniculitis, Weight loss	ORPHA:86884
Nephroblastoma	Hematuria, Neoplasm of the liver, Nephroblastoma, Weight loss	ORPHA:654
Short Syndrome	Inguinal hernia, Alopecia, Lipodystrophy, Abnormal dental enamel morphology, Diabetes mellitus, I...	ORPHA:3163
Addison Disease	Hyponatremia, Decreased circulating cortisol level, Primary testicular failure, Hypoglycemia, Hyp...	ORPHA:85138
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C...	OMIM:256040
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pan...	ORPHA:98908
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc...	OMIM:615751
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Huntington Disease-Like 2	Weight loss	OMIM:606438
Congenital Muscular Dystrophy Due To Lmna Mutation	Flexion contracture, Cachexia	ORPHA:157973
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Testicular neoplasm, Renal hamarto...	ORPHA:143
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Increased circulating lactate dehydrogenase concentra...	ORPHA:747
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, Hypernatremia, Failu...	ORPHA:35710
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Membranoproliferative glomerulonephr...	ORPHA:48435
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
8P23.1 Microdeletion Syndrome	Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Weight loss, Hypertrophic ...	ORPHA:251071
Poems Syndrome	Diabetes mellitus, Lipodystrophy, Pericardial effusion, Leukonychia, Weight loss, Ascites, Viscer...	ORPHA:2905
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno...	ORPHA:91139
Igg4-Related Aortitis	Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:449400
Pearson Syndrome	Renal cyst, Abnormality of the liver, Hypocalcemia, Hepatic steatosis, Hepatomegaly, Cardiomyopat...	ORPHA:699
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Abnormality of the kidney, Hypopigmented skin patches, Premature grayin...	ORPHA:895
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Christianson Syndrome	Arthrogryposis multiplex congenita, Thick eyebrow, Cachexia	ORPHA:85278
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal heart valve morphology, Weight loss, Abnormal aortic va...	ORPHA:3287
Giant Cell Arteritis	Renal insufficiency, Alopecia, Pericarditis, Weight loss, Hematuria, Hepatic failure, Double outl...	ORPHA:397
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Alopecia, Diabetes mellitus, Cholelithiasis, Early balding, Insuli...	ORPHA:273
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content,...	OMIM:261740
Ovarian Dysgenesis 3	Primary amenorrhea, Female infertility	OMIM:614324
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit...	ORPHA:100086
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Hypokalemia, Hypocalcemia, Nail dystrophy, Hypomagnesemia, Nail dysplasia, Hy...	OMIM:175500
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,...	ORPHA:93111
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Hypercalcemia, Weight loss, Increased cir...	ORPHA:97289
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Calcium nephrolithiasis, Mitral valve calcification, Abnormal circulating calcium c...	ORPHA:60025
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Chédiak-Higashi Syndrome	Hyponatremia, Elevated hepatic transaminase, Hypopigmentation of hair, Hypertriglyceridemia, Hypo...	ORPHA:167
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Hydrocele testis, Multiple lipomas, Nephroblastoma, Enlarged kidney	ORPHA:276280
Sarcoidosis	Hepatomegaly, Alopecia, Renal insufficiency, Hypercalcemia, Scarring, Portal hypertension, Nephro...	ORPHA:797
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Multiple glomerular cysts, Abnormality of Krebs cycle metabolism, Low plasma citrul...	ORPHA:255210
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Brucellosis	Hepatomegaly, Pericarditis, Liver abscess, Small for gestational age, Glomerulonephritis, Elevate...	ORPHA:1304
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Cryptorchidism, Obesity, Enuresis nocturna, Abnormal heart mo...	OMIM:615873
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Pancreatic fibrosis, Hepa...	OMIM:557000
Mucolipidosis Type Ii	Hip contracture, Inguinal hernia, Dry hair, Abnormal mitral valve morphology, Splenomegaly, White...	ORPHA:576
Pancreatoblastoma	Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Weight loss	ORPHA:677
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hypercalcemia, Jaundice, Extrahepatic cholestasis, Weight loss,...	ORPHA:913
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight los...	ORPHA:100075
Flynn-Aird Syndrome	Alopecia, Type II diabetes mellitus, Cachexia	ORPHA:2047
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia	OMIM:618093
Polycythemia Vera	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss	ORPHA:729
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Elevated circulating C-reactive protein co...	ORPHA:50918
Fanconi Anemia	Abnormality of skin pigmentation, Abnormality of the liver, Atrial septal defect, Hypospadias, Cr...	ORPHA:84
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up...	ORPHA:99885
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Renal cyst, Hepatoblastoma, Atrial septal defect, Hepatomegaly, ...	OMIM:312870
Endocrine-Cerebroosteodysplasia	Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney	OMIM:612651
Silver-Russell Syndrome	Failure to thrive in infancy, Hypospadias, Cachexia, Cryptorchidism, Insulin resistance, Obesity,...	ORPHA:813
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Abnormal...	ORPHA:29073
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Jaundice, Hyperkalemia, Macroor...	ORPHA:90790
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria, Elevated circulating creatinine concentration, Weight loss	ORPHA:90060
Graves Disease, Susceptibility To, 1	Abnormal abdomen morphology, Onycholysis, Weight loss	OMIM:275000
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:2902
Systemic Capillary Leak Syndrome	Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Weight loss, Pancreatitis, Abnormal ren...	ORPHA:188
Cockayne Syndrome	Dry hair, Urinary incontinence, Congenital contracture, Hepatomegaly, Cryptorchidism, Renal hypop...	ORPHA:191
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia...	OMIM:194080
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Inguinal hernia, Ventricular septal defect, Larg...	ORPHA:500095
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Pericardial effusion, Increased circulating ferritin concentration, Splenomegaly, H...	OMIM:615846
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea	OMIM:110100
Congenital Tufting Enteropathy	Cholestatic liver disease, Failure to thrive, Steatorrhea, Weight loss	ORPHA:92050
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Low anterior hairline, Wrist flexion contract...	ORPHA:800
Allergic Bronchopulmonary Aspergillosis	Abnormal fingernail morphology, Weight loss	ORPHA:1164
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit...	ORPHA:897
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Failure to thrive in infancy, Cachexia	OMIM:616801
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Primary Ciliary Dyskinesia	Male infertility, Abnormal sperm motility, Female infertility	ORPHA:244
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:276621
Juvenile Dermatomyositis	Calcinosis, Alopecia, Pericarditis, Elevated circulating creatine kinase concentration, Elevated ...	ORPHA:93672
Degcags Syndrome	Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature graying of hair, Abnormal...	OMIM:619488
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Riboflavin Transporter Deficiency	Cachexia, Iris hypopigmentation	ORPHA:97229
Eosinophilic Fasciitis	Fasciitis, Weight loss, Cellulitis	ORPHA:3165
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Tricuspid stenosis, Extrahepatic cholestasis, Weight loss, Pulmoni...	ORPHA:100078
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal pericardium morphology, Myocarditis, H...	ORPHA:183
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Ketonuria, Small for gestational age, Hypospadias, Highly arched eyebrow, Bicusp...	OMIM:220111
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o...	ORPHA:36426
Yao Syndrome	Ventricular hypertrophy, Pericarditis, Nephrolithiasis, Weight loss	OMIM:617321
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Abnormal heart valve...	ORPHA:77293
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss	OMIM:613239
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:324964
Acute Monoblastic/Monocytic Leukemia	Increased circulating lactate dehydrogenase concentration, Oliguria, Weight loss	ORPHA:514
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o...	ORPHA:537
Tetrasomy 12P	Sparse hair, Sparse eyebrow, Cachexia	ORPHA:884
Malignant Peritoneal Mesothelioma	Peritonitis, Ascites, Weight loss	ORPHA:168811
Lynch Syndrome	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Flexion contracture, Weight loss, Hepatocell...	ORPHA:144
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Hypoglycemia, Chronic pancreatitis, Hyperlipidemi...	OMIM:232240
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Hypoplasia of penis, Camptodactyly of finger, Cachexia, Abnormal hair pattern, S...	ORPHA:85293
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Abnormal cardiac septum morphology, Cac...	ORPHA:93941
Systemic Mastocytosis With Associated Hematologic Neoplasm	Splenomegaly, Hepatomegaly, Elevated total serum tryptase, Weight loss	ORPHA:98849
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes...	ORPHA:79102
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Abdominal mass, Elevated urinary dopamine level, Abnormalit...	OMIM:256700
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Right atrial enlarge...	ORPHA:555874
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Camptodactyly of finger, Cachexia	ORPHA:2774
Chediak-Higashi Syndrome	Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Silver-gray hair, Jaundice, Ocular albinism...	OMIM:214500
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:29072
Hermansky-Pudlak Syndrome	Renal insufficiency, Hypopigmentation of hair, Partial albinism, Abnormal dental enamel morpholog...	ORPHA:79430
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to...	ORPHA:371364
Neuropathy, Congenital Hypomyelinating, 3	Arthrogryposis multiplex congenita, Flexion contracture, Limb joint contracture, Cachexia	OMIM:618186
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Bullous Pemphigoid	Diabetes mellitus, Weight loss	ORPHA:703
Perry Syndrome	Weight loss	ORPHA:178509
Microsporidiosis	Cholangitis, Cachexia, Abnormality of the spleen, Peritonitis, Urethritis, Biliary tract abnormal...	ORPHA:2552
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Weight loss, Ridged fingernail, F...	ORPHA:37
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Frontal balding, Renal salt wasting, Neonatal...	ORPHA:90794
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Elevated circulating creatine kinase concentration	OMIM:617070
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Cachexia	ORPHA:52503
Pneumocystosis	Increased circulating lactate dehydrogenase concentration, Weight loss	ORPHA:723
Liposarcoma	Abnormality of the kidney, Weight loss	ORPHA:69078
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Dilated cardiomyopathy, Mitral valve prolapse, Weight loss, ...	OMIM:607459
Immunodeficiency 31C	Splenomegaly, Hepatomegaly, Diabetes mellitus, Weight loss	OMIM:614162
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Weight loss	ORPHA:411703
Vici Syndrome	Atrial septal defect, Hypopigmentation of hair, Elevated circulating creatine kinase concentratio...	OMIM:242840
Infantile Krabbe Disease	Abnormal circulating enzyme concentration or activity, Failure to thrive, Hypopigmented skin patc...	ORPHA:206436
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Os...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Os...	ORPHA:99228
Monosomy X	Osteopenia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Os...	ORPHA:99226
Turner Syndrome	Osteopenia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Os...	ORPHA:881
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Weight loss	ORPHA:216866
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Pericarditis, Elevated circu...	ORPHA:900
Trisomy 18	Omphalocele, Abnormality of retinal pigmentation, Ventricular septal defect, Camptodactyly of fin...	ORPHA:3380
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	ORPHA:2388
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ...	ORPHA:391665
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Erdheim-Chester Disease	Renal insufficiency, Dysuria, Abnormal pericardium morphology, Retroperitoneal fibrosis, Weight l...	ORPHA:35687
Thymic Carcinoma	Weight loss	ORPHA:99868
Riddle Syndrome	Enuresis nocturna, Chromosomal breakage induced by ionizing radiation, Elevated circulating alpha...	ORPHA:420741
Malignant Atrophic Papulosis	Abnormal pericardium morphology, Peritonitis, Weight loss, Abnormal myocardium morphology, Abnorm...	ORPHA:679
Chronic Beryllium Disease	Weight loss	ORPHA:133
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym...	OMIM:603041
Pemphigus Vulgaris	Atypical scarring of skin, Weight loss	ORPHA:704
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Hypoplasia of penis, Multicystic kidney dysplasia, Abnormal dental enam...	ORPHA:818
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Urinary rete...	ORPHA:1328
Livedoid Vasculopathy	Diabetes mellitus, Hyperpigmented streaks, Hyperhomocystinemia, Atrophic scars, Abnormal circulat...	ORPHA:542643
Menkes Disease	Inguinal hernia, Hypopigmentation of hair, Hypoglycemia, Woolly hair, Atypical scarring of skin, ...	ORPHA:565
Tubulointerstitial Nephritis And Uveitis Syndrome	Abnormality of retinal pigmentation, Renal lymphocytic tubulitis, Elevated circulating C-reactive...	ORPHA:91500
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Splenomegaly, Hypopigmented ...	ORPHA:163746
Tbck-Related Intellectual Disability Syndrome	Neurogenic bladder, Ventricular septal defect, Cryptorchidism, Synophrys, Hirsutism, Pulmonic ste...	ORPHA:488632
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C...	ORPHA:904
Pelizaeus-Merzbacher Disease	Abnormality of the urinary system, Failure to thrive in infancy, Cachexia	ORPHA:702
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss, Hepatosplenomegaly, Flexion contracture, Enthesitis	ORPHA:85408
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Cap Polyposis	Weight loss	ORPHA:160148
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Hermansky-Pudlak Syndrome 1	Renal insufficiency, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular al...	OMIM:203300
Juvenile Amyotrophic Lateral Sclerosis	Lower-limb joint contracture, Urinary incontinence, Upper-limb joint contracture, Cachexia	ORPHA:300605
Oculopharyngodistal Myopathy 1	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concent...	OMIM:164310
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Alopecia, Fasciitis, Phimosis, Urinary bladder inflammation, Flexi...	ORPHA:99921
Bannayan-Riley-Ruvalcaba Syndrome	Hypoglycemia, Cachexia, Multiple cafe-au-lait spots, Lipoma, Irregular hyperpigmentation	ORPHA:109
Fatal Familial Insomnia	Urinary retention, Weight loss	OMIM:600072
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:572333
Perry Syndrome	Weight loss	OMIM:168605
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph...	ORPHA:1018
Fabry Disease	Abnormal endocardium morphology, Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal myoca...	ORPHA:324
Acute Promyelocytic Leukemia	Hematuria, Weight loss	ORPHA:520
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
African Trypanosomiasis	Hepatomegaly, Alopecia, Renal insufficiency, Pericarditis, Urinary incontinence, Splenomegaly, Ja...	ORPHA:3385
Nocardiosis	Pericarditis, Liver abscess, Abnormal heart valve morphology, Peritonitis, Endocarditis, Weight l...	ORPHA:31204
Oromandibular Dystonia	Weight loss	ORPHA:93958
Hutchinson-Gilford Progeria Syndrome	Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Mitral stenosis, Alopecia to...	ORPHA:740
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Mitral valve calcification, Cachexia, Abnormality of the spleen, Splenomegaly, Aortic valve calci...	ORPHA:2072
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Hypercalcemia, Insulinoma, Nephrolithiasis, Hypercalciuria, Weight loss...	ORPHA:652
Behçet Disease	Glomerulopathy, Renal insufficiency, Pericarditis, Orchitis, Splenomegaly, Endocarditis, Weight l...	ORPHA:117
Imerslund-Gräsbeck Syndrome	Failure to thrive, Proteinuria, Weight loss	ORPHA:35858
Acquired Central Diabetes Insipidus	Pollakisuria, Weight loss	ORPHA:95626
Thymoma	Glomerulonephritis, Weight loss	ORPHA:99867
Brittle Cornea Syndrome	Abnormality of hair pigmentation, Corneal scarring, Mitral valve prolapse, Pulmonic stenosis, Her...	ORPHA:90354
Oculogastrointestinal Muscular Dystrophy	Abnormal mitral valve morphology, Cachexia	ORPHA:1876
Reactive Arthritis	Recurrent urinary tract infections, Pericarditis, Weight loss, Enthesitis, Dystrophic fingernails...	ORPHA:29207
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Failure to thrive, Ankle flexion contracture, Flexion contracture, Elbow flexion...	ORPHA:2020
Familial Thrombocytosis	Splenomegaly, Weight loss	ORPHA:71493
Rat-Bite Fever	Abdominal aseptic abscess, Pericarditis, Myocarditis, Endocarditis, Weight loss, Pancreatitis	ORPHA:31205
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Dementia, Ataxia, Cognitive impairment, Depression	ORPHA:329314
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Xanthelasma	ORPHA:425
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Sparse scalp hair, Pancreatic adenocarcinoma, Diabetes mellitus...	ORPHA:99889
Nijmegen Breakage Syndrome	Abnormal hair quantity, Abnormality of chromosome stability, Cachexia, Abnormal hair morphology, ...	ORPHA:647
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Macroorchidism, Generalized hyperpigm...	ORPHA:744
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pericardial effusion, Splenomegaly, Hypercalciuria, Weight loss	OMIM:181000
Tsh-Secreting Pituitary Adenoma	Abnormal hair quantity, Hypokalemia, Pericardial effusion, Weight loss	ORPHA:91347
Renal Nutcracker Syndrome	Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria	ORPHA:71273
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Abnormal mitral valve morphology, Cachexia, Melanocytic nevu...	ORPHA:1969
Dermatomyositis	Abnormal hair quantity, Pericarditis, Myocarditis, Weight loss, Cellulitis, Abnormality of the na...	ORPHA:221
Pyomyositis	Renal insufficiency, Testicular teratoma, Weight loss	ORPHA:764
Rett Syndrome	Cachexia	OMIM:312750
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Weight loss	OMIM:301074
Pancreatic Triacylglycerol Lipase Deficiency	Exocrine pancreatic insufficiency, Steatorrhea, Weight loss	ORPHA:309031
Hereditary Late-Onset Parkinson Disease	Spastic/hyperactive bladder, Weight loss	ORPHA:411602
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Seckel Syndrome	Sparse scalp hair, Abnormal dental enamel morphology, Cachexia	ORPHA:808
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ...	OMIM:233450
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia, Steatorrhea	ORPHA:3217
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Numerous pigmented freckles, Cachexia	ORPHA:220295
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Tubulointerstitial nephritis, Weight loss	ORPHA:79078
Marfan Syndrome	Inguinal hernia, Mitral valve calcification, Cachexia, Mitral valve prolapse, Slender build	ORPHA:558
Malt Lymphoma	Weight loss	ORPHA:52417
Stickler Syndrome	Slender build, Abnormal dental enamel morphology, Cachexia, Mitral valve prolapse	ORPHA:828
Norrie Disease	Cryptorchidism, Diabetes mellitus, Failure to thrive, Cachexia	ORPHA:649

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 Dguok

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 Dguok.

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

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Dguok^{tm43098(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Dguok^em1(IMPC)J	Exon Deletion	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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Dguok MGI:1351602

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

Auditory Brain Stem Response

Human diseases caused by Dguok mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data