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Gene: Dguok MGI:1351602

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Gene Summary

Name:
deoxyguanosine kinase
Synonyms:
dGK

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral density Dguokem1(IMPC)J HOM Early adult 8.64×10-08
female infertility Dguokem1(IMPC)J HOM Early adult 0.00
increased bone mineral content Dguokem1(IMPC)J HOM Early adult 5.04×10-07
increased total body fat amount Dguokem1(IMPC)J HOM Early adult 6.49×10-06
abnormal locomotor behavior Dguokem1(IMPC)J HOM Early adult 6.99×10-06
decreased locomotor activity Dguokem1(IMPC)J HOM   Early adult 1.79×10-09
decreased exploration in new environment Dguokem1(IMPC)J HOM   Early adult 9.59×10-05
decreased lean body mass Dguokem1(IMPC)J HOM Early adult 9.49×10-06
increased grip strength Dguokem1(IMPC)J HOM Early adult 5.13×10-23

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

3 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

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X-ray

XRay Images Forepaw

3 Images

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X-ray

XRay Images Whole Body Lateral Orientation

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

3 Images

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Auditory Brain Stem Response

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

2 Images

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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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hyperbilirubinemia, Decreased activity of mitochondrial ... OMIM:251880
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Elevated circulating creatine ... OMIM:617070
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Dementia, Depression, Cognitive impairment, Ataxia ORPHA:329314

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In... OMIM:619868
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased variability in muscle fiber diameter, Hypermethioninemia, Failure to t... OMIM:613752
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Elevated gamma-glutamyltransferase level, Failure... OMIM:615595
Premature Ovarian Failure 2B
Osteoporosis, Female infertility, Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased mitoc... ORPHA:457050
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... OMIM:620357
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Decreased activity of mitochondrial complex IV, H... ORPHA:17
Combined Oxidative Phosphorylation Deficiency 38
Failure to thrive, Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase ... OMIM:618378
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hyperbilirubinemia, Decreased activity of mitochondrial ... OMIM:251880
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Azoospermia, Increased LDL cholesterol concentration, Type II diabetes mellit... OMIM:615703
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Ele... OMIM:602541
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Mitochondrial swelling, Lower limb muscle weaknes... ORPHA:397744
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Mitochondrial swelling, Abnormal heart morphology, Hypertrophic cardiomyopathy... OMIM:618250
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ... OMIM:613070
Fumarase Deficiency
Aminoaciduria, Intrahepatic cholestasis, Hepatic failure, Elevated urine fumaric acid level, Fail... OMIM:606812
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosi... OMIM:612526
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Distal lower limb amyotrophy, Decreased activity of mitochondrial com... OMIM:500013
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Decreased mitochondrial number, Multiple joint contractures, Myopathy, Limb-girdle... ORPHA:352470
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Skelet... ORPHA:367
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Dilated cardiomyopathy, Failure to thrive in infancy, Hepatic steatosis, Pancrea... OMIM:618805
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Cardiomyopathy, Hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase l... OMIM:609016
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l... OMIM:617093
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Alg6-Cdg
Hypoalbuminemia, Failure to thrive, Abnormality of the liver, Abnormal circulating enzyme concent... ORPHA:79320
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Decreased liver function, Abnormal circulat... ORPHA:79319
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
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Congenital Generalized Lipodystrophy
Insulin resistance, Failure to thrive, Hypertrichosis, Hypertrophic cardiomyopathy, Hyperinsuline... ORPHA:528
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Increased urinary glycerol, Cholestasis, Hepatosplenome... ORPHA:247598
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... OMIM:608836
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat... OMIM:278000
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Failure to thrive, Rena... OMIM:602579
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Elevated circulating tiglylglycine concentration, Hypoglycemia, Abno... OMIM:300438
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Elevat... OMIM:615158
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Alopecia, Elevated circulating hepatic... OMIM:242150
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotra... OMIM:619048
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Muscular dystrophy, Elevated circulating hepatic transaminas... ORPHA:88618
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Elevated urinar... ORPHA:42
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotra... OMIM:619386
Galactokinase Deficiency
Small for gestational age, Failure to thrive, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia,... ORPHA:79237
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Pericardial effusion, Splenomeg... OMIM:608776
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased muscle mass, ... OMIM:619013
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis, Abnormal mitochondrial morphology ORPHA:111
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple... ORPHA:263501
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Chronic kidney disease, Elevated c... ORPHA:1667
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Long eyela... OMIM:619064
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Failure to thrive, Decreased liver function, Cholestasis, Ascites, Elevated circ... OMIM:608104
Alg1-Cdg
Hypoalbuminemia, Decreased liver function, Cardiomyopathy, Abnormal heart morphology, Renal insuf... ORPHA:79327
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Weight lo... ORPHA:507
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Mitochondrial Myopathy, Infantile, Transient
Decreased circulating carnitine concentration, Failure to thrive, Increased muscle lipid content,... OMIM:500009
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... OMIM:605814
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity, Hypoalbuminemia ORPHA:88643
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Weight loss, Glome... OMIM:619487
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Recurrent hypog... OMIM:212140
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cholestasis, Hepatic steatosis, Increased body weight, Myoglobinuria, Cirrhosis, Hepatomegaly, Po... ORPHA:264580
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... ORPHA:75234
Trichohepatoenteric Syndrome 1
Cholestasis, Ventricular septal defect, Cirrhosis, Curly hair, Brittle hair, Hepatomegaly, Jaundi... OMIM:222470
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Skeletal muscle atrophy, Lower limb muscle weakness, Elevated haptoglobin level,... OMIM:620632
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent hypoglycemia, Rhabdomyolysis, Increased body weight, Myoglobinuria, Cirrhosis, Hepatome... ORPHA:79240
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid... OMIM:615008
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... OMIM:618329
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyp... OMIM:151660
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Macroglossia, Abnormal urinary odor ORPHA:412217
Glycogen Storage Disease Iii
Hepatic fibrosis, Ventricular hypertrophy, Distal amyotrophy, Elevated circulating hepatic transa... OMIM:232400
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Hyperglycinemia, Decreased activity of mitochondrial complex IV, ... OMIM:619063
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Distal lower limb muscle weakness, Distal amyotrophy, Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape, Failure to thrive ORPHA:543470
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Coarse hair, Nephritis, ... OMIM:617303
Macrophage Activation Syndrome
Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ... ORPHA:158061
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... OMIM:608709
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia, Decreased level of coenzyme Q10 in skeletal muscle, Nephrotic syndrome, Proteinuria OMIM:614652
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
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Ascites, Stage 5 chr... OMIM:603278
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:228305
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Weight loss, Splenomegaly OMIM:209950
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, P... OMIM:618349
Xfe Progeroid Syndrome
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Asci... OMIM:610965
Al Amyloidosis
Hypoalbuminemia, Abnormal cardiac ventricle morphology, Nephrotic syndrome, Abnormal heart morpho... ORPHA:85443
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia OMIM:607250
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Proxi... OMIM:212065
Sitosterolemia 2
Tendon xanthomatosis, Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Muscular dystrophy, Hypopigmentation of the skin, Skeletal muscle atrophy, Lo... OMIM:615980
Nephrotic Syndrome, Type 9
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... OMIM:617609
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Incr... OMIM:603553
Congenital Myopathy 11
Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con... OMIM:619967
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Porphyria Cutanea Tarda
Portal inflammation, Hepatic steatosis, Decreased circulating hepcidin concentration, Hypopigment... ORPHA:101330
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Hepatic failure, Splenomegaly, Elevated circulating C-reactive protein concentra... OMIM:308240
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid... ORPHA:567548
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Decreased liver function, Ascites, Ventricular septal defect, Hematuria, Overrid... OMIM:617021
Primary Biliary Cholangitis
Elevated gamma-glutamyltransferase level, Xanthelasma, Elevated circulating alkaline phosphatase ... ORPHA:186
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypertrophic cardiomy... OMIM:613561
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Dicar... ORPHA:71212
Immunodeficiency 32B
Hepatomegaly, Splenomegaly, Failure to thrive, Hypoalbuminemia OMIM:226990
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Splenomegaly, E... OMIM:616050
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Aminoaciduria, Failure to thrive, Hypoglycemia, Decreased activity of mitochondr... OMIM:619055
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Focal segmental glomerulosclerosis, Decreased body weight, Proteinuria, Nephroti... OMIM:618347
Spastic Paraplegia Type 7
Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibers, Abnormal mitoch... ORPHA:99013
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Cholestasis, Hypertrophic cardiomyo... OMIM:615382
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Dilated c... OMIM:616730
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Tyrosinemia, Type I
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Ascites, Hypertrophic cardi... OMIM:276700
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Barth Syndrome
Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Fair hair, Failure to thr... OMIM:302060
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot... ORPHA:14
Refractory Celiac Disease
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypomagnesemia, Abnorma... ORPHA:398063
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Atrial septal defect, Hypog... OMIM:620211
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232200
Reni Syndrome
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogl... OMIM:617575
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... OMIM:615160
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Failure to thrive, Enlarged kidney OMIM:615285
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Atypical scarring of skin, Irregular h... ORPHA:89842
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Decreased mitochondrial number, Ragged-red muscle fibers, Myopathy, Weakn... ORPHA:352447
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat... ORPHA:446
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Abnormality of th... ORPHA:298
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Weight loss, Hepatomegaly, Jaundice ORPHA:79238
Fibronectin Glomerulopathy
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom... ORPHA:84090
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria,... OMIM:256300
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Abnormal pericardium mo... ORPHA:67
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Methylmalonic aciduria, Elevated circul... OMIM:245400
Cog7-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Abnormal heart morpho... ORPHA:79333
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Ventricular septal d... OMIM:208085
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:99901
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Alopecia, Elevated circulating hepatic transaminase concentration, Type I diabet... ORPHA:37042
Erythroderma, Lethal Congenital
Hypoalbuminemia, Failure to thrive OMIM:227090
Avian Influenza
Hypoalbuminemia, Acute kidney injury, Elevated circulating hepatic transaminase concentration, In... ORPHA:454836
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Small for gestational age, Maturity-onset diabetes of the young, Hyperinsu... ORPHA:324575
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Rena... ORPHA:890
Mandibuloacral Dysplasia
Insulin resistance, Alopecia, Increased subcutaneous truncal adipose tissue, Increased circulatin... ORPHA:2457
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Alg12-Cdg
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Small nail, Failure to ... ORPHA:79324
Lysinuric Protein Intolerance
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Glomerul... ORPHA:470
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:600649
Hemochromatosis, Type 1
Alopecia, Elevated circulating hepatic transaminase concentration, Increased circulating iron con... OMIM:235200
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Mottled pigmentation, Increased adipose tissue around the neck, Increased facial adipos... OMIM:248370
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Stage... OMIM:617610
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb muscle weakness, Hepatic steatosis,... OMIM:277900
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas... ORPHA:90003
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia, Long eyelashes, Mitochondrial respiratory chain defects, Hypocal... ORPHA:163693
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Decreased liver function, Abnormal heart morphology, Hypertrophic cardiomyopat... ORPHA:70472
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Idiopathic Achalasia
Weight loss, Decreased circulating prealbumin concentration ORPHA:930
Generalized Pustular Psoriasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Obesity, Renal insuffic... ORPHA:247353
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating tetradecanoylcarnitine concentration, Increased urine alpha-ketoglutarate co... OMIM:619355
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Congenital Lethal Erythroderma
Hypoalbuminemia, Failure to thrive ORPHA:1954
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Abnormal circulating lipid concentration, Premature graying of hair, Ab... ORPHA:1979
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Fetal ascites, Hepatitis, Cardiomyopathy, Cholestasis, Hyperamm... ORPHA:292
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia, Elevated circulating creatine kinase co... OMIM:208920
Nephrotic Syndrome, Type 6
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c... OMIM:614196
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Dil... ORPHA:263494
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Increased circulating ferritin concentration, Cardiomyopathy, Hyperglycemi... ORPHA:465508
Mantle Cell Lymphoma
Weight loss, Splenomegaly ORPHA:52416
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Dica... OMIM:201475
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Cachexia... OMIM:613662
Aa Amyloidosis
Chronic kidney disease, Nephropathy, Acute kidney injury, Renal amyloidosis, Cholestasis, Abnorma... ORPHA:85445
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo... OMIM:232220
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:246900
Combined Oxidative Phosphorylation Deficiency 2
Elevated circulating hepatic transaminase concentration, Decreased activity of mitochondrial ATP ... OMIM:610498
Temple Syndrome
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal obesity, Hypertrigly... OMIM:616222
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypoglycemia, Ascites, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomega... OMIM:614702
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:620548
Leprechaunism
Facial hypertrichosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Decreased body weig... ORPHA:508
Dysbetalipoproteinemia
Tendon xanthomatosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... ORPHA:412
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Failure to thrive, Hypoglycemia, Lower limb muscle weakness, Elevated circulating aspar... OMIM:617950
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abnormal liver parenchyma morpho... ORPHA:3032
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Failure to thrive, Cholestasis, Hyperinsulinemia, Obesity, Childhoo... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Failure to thrive, Cholestasis, Hyperinsulinemia, Obesity, Childhoo... ORPHA:71526
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, ... OMIM:617872
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated... ORPHA:400
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Failure to thrive, Decreased activity of mitochondrial compl... OMIM:612075
Infantile Sialic Acid Storage Disease
Hypopigmentation of the skin, Fair hair, Failure to thrive, Ascites, Splenomegaly, Cardiomegaly, ... OMIM:269920
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased liver function, Hypertrophic cardiomyopathy, Decreased activity of mitoch... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased liver function, Cardiomyopathy, Decreased activity of mitochondrial compl... OMIM:618839
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Decreased circulating carnitine concentration, Elevated circulating hepatic tran... OMIM:201450
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Nephrotic Syndrome, Type 3
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Nephrotic syndrome, Hypertrichosis, Abnormal heart morphology, Heparan sulfate e... ORPHA:505248
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... OMIM:613404
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Reduced tissue carnitine O-palmitoyltran... ORPHA:228308
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Chronic kidney disease, Focal segmental glome... ORPHA:656
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Elevated circulating hepatic transaminase con... ORPHA:369840
H Syndrome
Alopecia, Hypertrichosis, Abnormal eyebrow morphology, Azoospermia, Hepatosplenomegaly, Hernia, H... ORPHA:168569
Bacterial Toxic-Shock Syndrome
Cellulitis, Hypoalbuminemia, Hepatitis, Fasciitis, Recurrent urinary tract infections, Elevated c... ORPHA:36234
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Decreased activity of mi... OMIM:617713
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Dilated cardiomyopathy, Hypoglycemia, Decreased activity of mitochondr... OMIM:618120
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Abnormality of e... ORPHA:79230
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Decreased liver function, Decreased HDL ... ORPHA:85450
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Small for gestational a... OMIM:613658
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... OMIM:255120
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hypersplenism, Xanthelasma, Elevated circulating alkaline phosphatase concent... ORPHA:275761
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Redu... OMIM:261750
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Hypoproteinemia, Ascites, Hypoalbuminemia OMIM:226300
Propionic Acidemia
Organic aciduria, Hypoglycemia, Cardiomyopathy, Propionyl-CoA carboxylase deficiency, Hyperammone... ORPHA:35
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Hepato... OMIM:231100
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity... ORPHA:209902
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepatic transaminase... OMIM:300280
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Failure to thrive, Hypertrophic cardiomyopathy, D... OMIM:614096
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased circulating carnitin... ORPHA:159
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Red-brown urine, Cardiomyopath... ORPHA:157
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased circulating carnitine concentration, Rhabdomyolysis, Hepatomegaly, Polycystic kidney dy... ORPHA:26791
Eosinophilic Gastroenteritis
Hypoalbuminemia, Ascites, Weight loss, Elevated circulating C-reactive protein concentration, Ste... ORPHA:2070
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Ascites, Hypocalcemia, Weight loss, Pericar... ORPHA:90362
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... ORPHA:53035
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Abnormal mitochondrial morphology ORPHA:275872
Wilson Disease
Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:905
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Polymyositis
Chondrocalcinosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitral valve mor... ORPHA:732
Smith-Magenis Syndrome
Abnormality of the urinary system, Abnormal heart morphology, Increased body weight, Abnormal ren... OMIM:182290
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Hepat... OMIM:607624
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:86893
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Pigmentary retinopathy, Elevated circulating he... OMIM:609015
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Ketonuria, Failure to thrive, Hypoglycem... OMIM:615453
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Hypercholesterolemia, Familial, 4
Tendon xanthomatosis, Decreased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholest... OMIM:603813
Pulmonary Blastoma
Weight loss ORPHA:64741
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Hypertriglyceridemia, ... ORPHA:79259
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
9Q31.1Q31.3 Microdeletion Syndrome
Highly arched eyebrow, Dilated cardiomyopathy, Type II diabetes mellitus, Renovascular hypertensi... ORPHA:401923
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... ORPHA:79301
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... OMIM:208540
Ataxia-Telangiectasia
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Failure to thri... ORPHA:100
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated gamma-glutamyltransferase level, Unbalanced atrioventricular canal defect, Dilatation of... OMIM:619534
Nephrotic Syndrome, Type 8
Hypoalbuminemia, Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidne... OMIM:615244
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Decreas... OMIM:619170
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H... OMIM:615415
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Ascites, Hepatomegaly, Weight loss ORPHA:2198
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low ... OMIM:261680
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... ORPHA:156
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Sple... OMIM:613489
Fanconi-Bickel Syndrome
Nephropathy, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Elevated ... ORPHA:2088
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, L... OMIM:615381
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypoketoti... ORPHA:263455
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insu... OMIM:604387
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Laron Syndrome
Truncal obesity, Hypoplasia of penis, Hypercholesterolemia, Hypoglycemia ORPHA:633
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Alagille Syndrome 1
Cholestasis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Duplicated collecting sy... OMIM:118450
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Splenomegaly, Weight loss, Hepatomegaly ORPHA:100024
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Ventricular hypertrophy, Elevated ci... OMIM:212138
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Sparse eyebrow, Hypopigmentation of the skin, Failure to thr... OMIM:252500
Laryngeal Neuroendocrine Tumor
Weight loss, Elevated circulating carcinoembryonic antigen concentration ORPHA:100083
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating hepatic transaminase concentration, Weight loss, Abnormality of the kidney, ... ORPHA:54251
Morgagni-Stewart-Morel Syndrome
Obesity, Hyperuricemia, Hirsutism, Hypercholesterolemia, Diabetes mellitus ORPHA:77296
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... ORPHA:435660
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ... OMIM:613490
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Joint contracture of the hand, Umbilical hernia, Horseshoe kidney, Pericardial e... OMIM:235510
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Large for gestational age, Inguinal hernia, Nephroblastoma, Enlarged kidney OMIM:618272
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis, Failure to thrive, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Decreased ... OMIM:620646
Aredyld Syndrome
Type I diabetes mellitus, Sparse body hair, Abnormal dental enamel morphology, Abnormality of the... ORPHA:1133
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hypoglycemia, Hepatic steatosis, Renal steatosis, Impaired gluconeogenesis OMIM:261650
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Secondary ... OMIM:612310
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Alopecia, Hypopigmentation of the skin, Failure to thrive, Atrophic scars, Dista... ORPHA:79396
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc... ORPHA:64753
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility OMIM:617442
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Glucose intolerance, Splenomegaly, Hyper... ORPHA:75563
Griscelli Syndrome Type 2
Iris hypopigmentation, Premature graying of hair, Partial albinism, Hyperlipidemia, Splenomegaly,... ORPHA:79477
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Failure to thrive, Hypoglycemia, Ascites, Elevated circulating aspartate aminotr... OMIM:617049
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated gamma-glutamyltransferase level, Recurrent hypoglycemia, Cholestasis, Acute hepatic fail... OMIM:256810
Reticular Dysgenesis
Weight loss, Abnormality of mitochondrial metabolism, Failure to thrive ORPHA:33355
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Failure to thrive, Stage 5 chronic kidney disease, Hiatus hernia, Proteinuria, D... OMIM:617729
Griscelli Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmented skin patches, White hair, Premature grayin... ORPHA:381
Diaphanospondylodysostosis
Nephrogenic rest, Hypoplastic fingernail, Nephroblastomatosis, Horseshoe kidney, Inguinal hernia,... OMIM:608022
Ménétrier Disease
Hypoalbuminemia, Weight loss, Hypoproteinemia ORPHA:2494
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Alopecia universalis, Ventricular hypertrophy, Premature graying of hair, ... ORPHA:363618
Hemochromatosis, Type 3
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:604250
Beckwith-Wiedemann Syndrome
Nephropathy, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Neonatal hypoglycemia... ORPHA:116
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Focal segmental glomerulosclerosis, Joint contracture of the hand, Hypopigmentat... OMIM:251300
Combined Oxidative Phosphorylation Deficiency 18
Increased mitochondrial number, Decreased activity of mitochondrial complex I, Skeletal muscle at... OMIM:615578
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Decreased activity of mitochondrial complex III, Pancreatitis, Hyperammonemia, Hypoglycemia OMIM:620137
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Upper limb muscle weakness, Decreased muscle glycogen content, Decreased... ORPHA:263297
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Hypoglycemia, Elevated ... OMIM:620609
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hypoketotic hypoglyce... OMIM:231530
Fanconi-Bickel Syndrome
Hypouricemia, Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Reduced subcutaneous ... OMIM:227810
Igg4-Related Kidney Disease
Chronic kidney disease, Abnormal mesentery morphology, Urethritis, Hematuria, Weight loss, Tubulo... ORPHA:449395
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Myopathy, Hematuria, Hypophosphatemia, Weight loss... OMIM:219800
Cronkhite-Canada Syndrome
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Generalized hyper... ORPHA:2930
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Ketonuria, G... ORPHA:2089
Adult-Onset Still Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co... ORPHA:829
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Failure to thrive, Multiple muscular ventricular septal defects, Pulmonic stenos... OMIM:615508
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Preeclampsia
Chronic kidney disease, Type I diabetes mellitus, Abnormality of the hepatic vasculature, Elevate... ORPHA:275555
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Elevated circulating hepatic transamin... OMIM:615471
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Decreased ac... OMIM:620135
Erythrokeratodermia Variabilis
Alopecia, Irregular hyperpigmentation, Abnormal hair morphology, Generalized hirsutism, Weight lo... ORPHA:317
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... OMIM:618348
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr... OMIM:616026
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Alopecia, Decreased circulating carnitine concentration, Skeletal muscle atrophy... OMIM:210210
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv... OMIM:613812
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h... ORPHA:131
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal obesity, Small for g... ORPHA:96184
Solitary Fibrous Tumor
Urinary retention, Hypoglycemia, Recurrent hypoglycemia, Pelvic mass, Hypophosphatemic rickets, N... ORPHA:2126
Autosomal Recessive Polycystic Kidney Disease
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni... ORPHA:731
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Squalene Synthase Deficiency
Elevated urine mesaconic acid level, Elbow flexion contracture, Hypocholesterolemia, Failure to t... OMIM:618156
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Joint contracture of the hand, Distal amyotrophy, Foot joint contracture, Failure to thrive, Exoc... ORPHA:456312
Smith-Lemli-Opitz Syndrome
Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Duplicated collect... OMIM:270400
Smith-Magenis Syndrome
Failure to thrive in infancy, Abnormality of the ureter, Obesity, Renal hypoplasia/aplasia, Hyper... ORPHA:819
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,... OMIM:611126
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir... OMIM:210500
Gilbert Syndrome
Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration, Unconjugated ... OMIM:143500
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Hypertrophic cardiomyopathy, Hernia, Weight loss, Atrial septal defect, Hepato... ORPHA:1842
Rhabdoid Tumor
Hematuria, Neoplasm of the liver, Weight loss, Renal neoplasm, Hypercalcemia ORPHA:69077
Overlap Myositis
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Elevated circulatin... ORPHA:206572
Pfapa Syndrome
Hepatomegaly, Weight loss, Splenomegaly ORPHA:42642
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu... ORPHA:210136
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Umbilical hernia, Abnormal circulating thyroglobu... ORPHA:90674
Pleural Mesothelioma
Hepatomegaly, Weight loss ORPHA:50251
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated gamma-glutamyltransferase level, Recurrent hypoglycemia, Cholestasis, Hyperglycemia, Hep... OMIM:124000
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Obesity, Hepatic steatosis OMIM:620195
X-Linked Agammaglobulinemia
Cellulitis, Alopecia, Hepatitis, Hypopigmented skin patches, Failure to thrive, Hypocalcemia, Wei... ORPHA:47
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Dilated cardio... OMIM:614921
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Type II diabetes mellitus, Inguinal hernia, Bi... ORPHA:3191
Lymphoid Interstitial Pneumonia
Failure to thrive, Abnormality of connective tissue, Weight loss, Hepatomegaly, Enlarged kidney ORPHA:79128
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Redu... OMIM:246450
Sitosterolemia 1
Increased circulating lactate dehydrogenase concentration, Hyperapobetalipoproteinemia, Xanthelas... OMIM:210250
Gaisböck Syndrome
Nephrocalcinosis, Hypernatriuria, Obesity, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hy... ORPHA:90041
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Pigmentary retinopathy, Type I diabetes mellitus, Failure to thrive, Lower li... OMIM:606721
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormal peritoneum morphology ORPHA:2023
Blue Diaper Syndrome
Nephrocalcinosis, Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase c... ORPHA:94086
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Xanthelasma, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Aids Wasting Syndrome
Cachexia, Weight loss, Skeletal muscle atrophy ORPHA:90081
Interstitial Nephritis, Karyomegalic
Elevated circulating hepatic transaminase concentration, Nephronophthisis, Glycosuria, Renal tubu... OMIM:614817
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Failure to thrive, Decreased liver function, Hypertrichosis, Hypoglycemi... OMIM:608779
Isolated Complex I Deficiency
Proximal tubulopathy, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Decreased act... ORPHA:2609
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Proteinuria, Increased blood urea nitrogen, Macroscop... ORPHA:251004
Meckel Syndrome, Type 8
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Oculopharyngodistal Myopathy
Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Distal upper limb amyotrop... ORPHA:98897
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Ketonuria, Decreased methylmalonyl-CoA mutase activity, Hypoglycemia, Ele... OMIM:251110
Leigh Syndrome
Decreased activity of mitochondrial complex IV, Myopathy, 3-Methylglutaconic aciduria, Ventricula... ORPHA:506
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Hypoalbuminemia, Focal segmental glome... ORPHA:567546
Mast Cell Sarcoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:66661
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Ascites, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyceride... OMIM:618183
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:99845
Propionic Acidemia
Hyperglycinuria, Failure to thrive, Hypoglycemia, Increased level of hippuric acid in urine, Card... OMIM:606054
Kawasaki Disease
Hypoalbuminemia, Hepatitis, Abnormality of nail color, Sterile pyuria, Double outlet right ventri... ORPHA:2331
Alg9-Cdg
Hypoplasia of the musculature, Ventricular septal defect, Low posterior hairline, Atrial septal d... ORPHA:79328
Mody
Nephropathy, Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes m... ORPHA:552
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concentration, Ketonuria, Di... ORPHA:20
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Increased circulating lactate dehydrogenase concentration, Failure to thrive, Oligosacchariduria,... ORPHA:308552
Wolman Disease
Hepatic failure, Ascites, Splenomegaly, Cachexia, Hepatomegaly, Steatorrhea ORPHA:75233
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Diastasis recti, ... OMIM:130650
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy, Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, ... ORPHA:3208
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos... OMIM:619377
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Obesity, Streak ovary, Azoospermia, Abnormal spermatogenes... ORPHA:261529
Bardet-Biedl Syndrome 20
Elevated circulating hepatic transaminase concentration, Obesity, Proteinuria, Pancreatitis, Hype... OMIM:619471
Focal Myositis
Myositis, Weight loss, Elevated circulating creatine kinase concentration ORPHA:48918
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Failure to thrive in infancy, Increased circulating renin level, Hyponatremia, We... ORPHA:171876
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Skeletal muscle atrophy, Methylmalonic aciduria, Elevated circulating creatine kin... ORPHA:1933
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Weight loss, Hy... OMIM:143880
Anemia, Congenital Dyserythropoietic, Type Iv
Increased circulating lactate dehydrogenase concentration, Hypertrophic cardiomyopathy, Hepatospl... OMIM:613673
Attrv30M Amyloidosis
Nephropathy, Cardiomyopathy, Cardiomegaly, Weight loss, Abnormal renal physiology ORPHA:85447
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Hypoglycemia, Hyperammonemia, Splenomegaly ORPHA:664
Familial Glucocorticoid Deficiency
Failure to thrive, Hypernatriuria, Recurrent urinary tract infections, Hypertrophic cardiomyopath... ORPHA:361
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elevated ... ORPHA:99826
Neutral Lipid Storage Disease With Ichthyosis
Alopecia, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardio... ORPHA:98907
Infantile Liver Failure Syndrome 2
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cardiomyopathy, Acute hepa... OMIM:616483
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Wild Type Attr Amyloidosis
Nephropathy, Aortic valve stenosis, Hypertrophic cardiomyopathy, Renal insufficiency, Elevated ci... ORPHA:330001
Mitochondrial Trifunctional Protein Deficiency 2
Dilated cardiomyopathy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrati... OMIM:620300
Majeed Syndrome
Failure to thrive, Splenomegaly, Proteinuria, Cachexia, Weight loss, Glomerulopathy, Hepatomegaly... ORPHA:77297
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Pigmentary retinopathy, Elevated circulating hep... ORPHA:79095
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Increased circulating l... ORPHA:98908
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Reduced subcutaneous adipose tiss... OMIM:269700
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Ascites, Cardiomegaly, Left atrial... ORPHA:57777
Peripheral Primitive Neuroectodermal Tumor
Increased circulating lactate dehydrogenase concentration, Lower limb muscle weakness, Pelvic mas... ORPHA:370348
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Elevated circulating hepatic transaminase concentration, Failure to thrive, Abnormality of the li... OMIM:610131
Syndromic Diarrhea
Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial septal defect... ORPHA:84064
Aromatase Deficiency
Delayed epiphyseal ossification, Osteopenia, Female infertility, Obesity, Eunuchoid habitus, Hype... ORPHA:91
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph... OMIM:615895
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Generalized muscular app... OMIM:608594
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Hypoglycemia, Methylmalonic aciduria, Cardiomyopathy, Stage 5 chronic kidney d... OMIM:251000
Primary Hepatic Neuroendocrine Carcinoma
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:100085
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete... OMIM:615812
Prader-Willi Syndrome
Class III obesity, Decreased muscle mass, Failure to thrive in infancy, Hyperinsulinemia, Obesity... OMIM:176270
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Asci... ORPHA:75565
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hirsutism, Enlarged polycystic ovaries, ... ORPHA:90301
Proteasome-Associated Autoinflammatory Syndrome 3