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Gene: Hnf1a MGI:98504

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
HNF1 homeobox A
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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.

Phenotype associated images not available

Human diseases caused by Hnf1a 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 predicted to be associated to Hnf1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 3
Infertility OMIM:606766
Oocyte Maturation Defect 3
Infertility OMIM:617712
Oocyte Maturation Defect 4
Infertility OMIM:617743
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Nondisjunction
Decreased fertility OMIM:158250
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Fanconi-Bickel Syndrome
Impaired glucose tolerance, Hypercalciuria, Rickets, Hepatic failure, Elevated circulating aspart... ORPHA:2088
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Galactosemia Iii
Aminoaciduria, Hypergalactosemia, Hepatomegaly, Jaundice, Galactosuria, Failure to thrive, Spleno... OMIM:230350
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Oral avers... ORPHA:470
Wilson Disease
Joint hypermobility, Hypercalciuria, Osteoarthritis, Osteoporosis, Cirrhosis, Aminoaciduria, Hepa... OMIM:277900
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Galactose Epimerase Deficiency
Feeding difficulties, Growth delay, Aminoaciduria, Weight loss, Hepatomegaly, Jaundice, Splenomeg... ORPHA:79238
Argininemia
Micronodular cirrhosis, Postnatal growth retardation, Cholestasis, Hepatomegaly, Hyperargininemia... OMIM:207800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Rickets, Aminoaciduria, Hypoglycemia, Glycosuria, Hepatomegaly, ... OMIM:616026
Argininosuccinic Aciduria
Hypoargininemia, Hyperglutaminemia, Dry hair, Feeding difficulties in infancy, Aminoaciduria, Hep... OMIM:207900
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia,... ORPHA:42
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperuricemia, Jaundice, Vomiting, Cirrhosis, Malnutrition, Nausea, Prox... OMIM:229600
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperglycinemia, Hepatic steatosis, Elevated circulating alanine aminotransferase... OMIM:619386
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Diarrhea, Skeletal muscle atrophy, Vomiting, Osteop... OMIM:222700
Dent Disease
Hematuria, Renal hypophosphatemia, Hypercalciuria, Chronic kidney disease, Thin bony cortex, Dela... ORPHA:1652
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Aminoaciduria, Cholestasi... OMIM:603358
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Generalized aminoaciduria, Rickets, Proximal tubulopathy, Elevated alkaline pho... OMIM:613388
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Generalized aminoaciduria, Hypouricemia, Glycosuria, Elevate... OMIM:227810
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Feeding difficulties, Elevated plasma ... ORPHA:2394
Rotor Syndrome
Conjugated hyperbilirubinemia, Bilirubinuria, Hyperbilirubinemia, Jaundice, Intermittent jaundice... ORPHA:3111
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Hyperinsuline... ORPHA:263455
Citrullinemia, Classic
Cirrhosis, Hyperglutaminemia, Hypoargininemia, Hepatomegaly, Vomiting, Protein avoidance, Failure... OMIM:215700
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Hyperphosphaturia, Increased hepatocellular lipid drop... OMIM:220110
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Abnormality of t... ORPHA:2089
Glycogen Storage Disease Ia
Osteoporosis, Xanthelasma, Decreased muscle mass, Elevated hepatic transaminase, Enlarged kidney,... OMIM:232200
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Elevated circulating al... OMIM:300555
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Galactosemia Ii
Prolonged neonatal jaundice, Hypergalactosemia, Galactosuria OMIM:230200
Argininosuccinic Aciduria
Hypoargininemia, Hyperglutaminemia, Abnormal hair quantity, Aminoaciduria, Short stature, Orotica... ORPHA:23
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hyperphosphaturia, Constipation, Polyuria, Aminoaciduria, Recurrent fractures, ... OMIM:239200
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Skeletal muscle steatosis, Aminoaciduria, Glycosuria, Hepatomegal... ORPHA:436271
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Stage 4 chronic kidney disease, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias... ORPHA:411536
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Constipation, Hypoglycemia, Hepatomegaly, Organic aciduria,... ORPHA:35
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated hepatic transaminase, Increased blood urea nitrogen, Elevat... OMIM:614817
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperornithinemia, Elevated hepatic transaminase, Feeding difficulties, Abnormal circulating citr... ORPHA:415
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Albuminuria, Increased level of gala... OMIM:230400
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Elevated hepatic transaminase, Abdominal pain, Hepatomegaly, Jaundice,... ORPHA:890
Dent Disease 1
Hypercalciuria, Chronic kidney disease, Thin bony cortex, Delayed epiphyseal ossification, Renal ... OMIM:300009
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Growth delay, Hyperlysinemia, Hyperammonemia, Malabsorption, Hyperlysinuria OMIM:238750
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Weight loss, Hypercalciuria, Renal sodium wasting, Chronic kidney di... ORPHA:3337
Proximal Renal Tubular Acidosis
Hypercalciuria, Diarrhea, Vomiting, Low-molecular-weight proteinuria, Bicarbonate-wasting renal t... ORPHA:47159
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Failure to thrive, Short stature, Hypospadias, Hyperammonemia, 3-Methylglutaconic a... OMIM:604273
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia, Hepatic failure, Splenomegaly, Hyperammonemia, Pyloric stenosis ORPHA:664
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Hepatic steatosis, Proximal tubulopathy, Generalized ami... OMIM:231680
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Recurrent fractures, Aminoaciduria, Hepatome... ORPHA:417
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Failure to thrive in infancy, Hypoglycemia, ... OMIM:232700
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Uric acid nephrolithiasis, Increased phosphoribosylpyrophosphate synthetase ... ORPHA:411543
Threoninemia
Hyperthreoninuria, Hyperthreoninemia, Growth delay OMIM:273770
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Failure to thrive, Nausea and vomiting, Renal insufficiency, Hyperammonemia ORPHA:28
Hyper-Beta-Alaninemia
Hyperbeta-alaninemia, Failure to thrive, Increased urinary taurine OMIM:237400
Glycogen Storage Disease Ib
Osteoporosis, Xanthelasma, Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomer... OMIM:232220
Mody
Hyperinsulinemic hypoglycemia, Overweight, Pancreatic hypoplasia, Abnormal insulin level, Abnorma... ORPHA:552
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia, 3-Methylglutaconic aciduria ORPHA:67046
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hyperphosphaturia, Hypophosphatemic rickets, Increased circulating beta-C-termi... ORPHA:157215
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Feeding difficulties in infancy, Hepatic steatosis, Hypoketotic hy... OMIM:255120
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Joint laxity, Hepatic steatosis, Duplicated collecting system, Pos... OMIM:617093
Propionic Acidemia
Osteoporosis, Propionyl-CoA carboxylase deficiency, Hyperglycinemia, Feeding difficulties in infa... OMIM:606054
Distal Renal Tubular Acidosis
Hypocitraturia, Hypercalciuria, Increased susceptibility to fractures, Diarrhea, Vomiting, Low-mo... ORPHA:18
Hyperprolinemia Type 1
Hyperprolinemia, Prolinuria, Nephropathy, Proteinuria ORPHA:419
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Rickets... ORPHA:882
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hyperinsulinemic hypoglycemia, Proportionate short stature, Mildly elevated creatine kinase, Diar... ORPHA:71212
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Elevated circul... OMIM:619048
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Decreased liver function, Skeletal muscle atrophy, Elevated circulating creati... ORPHA:26791
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Short Chain Acyl-Coa Dehydrogenase Deficiency
Increased level of methylsuccinic acid in urine, Feeding difficulties, Ketotic hypoglycemia, Hepa... ORPHA:26792
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Nonk... OMIM:201475
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Feeding difficulties in infancy, Generalized aminoaciduria, Hypoglycemia, Diarr... OMIM:606528
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy, Organic aciduria, Hyperammonemia, Abnormal circulatin... ORPHA:6
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Hyperammonemia, Aminoaciduria, Episodic ammonia intoxication ORPHA:147
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Chondrocalcinosis, Infantile hypercalcemia, Osteopenia, Hype... ORPHA:99879
Valinemia
Vomiting, Hypervalinemia, Valinuria, Failure to thrive OMIM:277100
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Phosphoribosylpyrophosphate Synthetase Superactivity
Uric acid nephrolithiasis, Increased phosphoribosylpyrophosphate synthetase level, Hyperuricemia,... OMIM:300661
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Severe short stature, Elevated circulating creatinine conce... OMIM:242530
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, H... ORPHA:730
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatomegaly, Hepatic failure, Hy... OMIM:617872
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Conjugated hyperbilirubinemia, Aminoaciduria, Biliary hyperplasia, Gly... OMIM:210550
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Rickets, Aminoaciduria, Glycosuria, Osteomalacia, Hypokalemia, ... OMIM:134600
Cystinosis
Hypophosphatemia, Renal insufficiency, Nephrogenic diabetes insipidus, Rickets, Hypothyroidism, A... ORPHA:213
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Glutaric aciduria, Increased level of 3-hydroxy-3-methylglutaric acid... OMIM:246450
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Hyperprolinemia, Type Ii
Hyperglycinuria, Hydroxyprolinuria, Prolinuria, Hyperprolinemia OMIM:239510
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Hepatomegaly, Vomiting, Tubulointerstitial nephritis, Methylmalonic aciduria, Me... OMIM:251000
Wolcott-Rallison Syndrome
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Hypothyroidism, Growth delay, C... ORPHA:1667
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pol... ORPHA:276575
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Hyperammonemia, Elevated hepatic transaminase, Reduced muscle carniti... OMIM:212140
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Feeding difficulties, Abdominal pain, Anorexia, Hepatomegaly, Splenomegaly, Failure to thrive, Pa... ORPHA:79312
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Feeding difficulties, Proximal tubulopathy, Aminoaciduria, Weight loss, Cachexia, Failure to thrive OMIM:612075
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Rickets, Growth delay, Aminoaciduria, Glycosuria, Short stature, Proteinuria OMIM:615605
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Coproporphyria, Hereditary
Abdominal pain, Constipation, Hepatomegaly, Jaundice, Diarrhea, Splenomegaly, Vomiting, Cutaneous... OMIM:121300
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated hepatic transaminase, Elevated circulating sebacic acid concentration, I... OMIM:615160
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Polyphagia, Feeding difficulties, Diffuse p... ORPHA:276556
Mitochondrial Trifunctional Protein Deficiency
Elevated circulating aspartate aminotransferase concentration, Elevated hepatic transaminase, Fee... OMIM:609015
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Fasting hypoglycemia, Hyperammonemia, Elevated hepatic transaminase, ... ORPHA:159
Harderoporphyria
Increased circulating ferritin concentration, Hepatomegaly, Prolonged neonatal jaundice, Neonatal... OMIM:618892
Hereditary Coproporphyria
Small intestinal dysmotility, Abdominal pain, Atypical scarring of skin, Hepatocellular carcinoma... ORPHA:79273
Lysine Malabsorption Syndrome
Growth delay, Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Hypotonia-Cystinuria Syndrome
Polyphagia, Growth delay, Cystinuria, Failure to thrive, Nephrolithiasis ORPHA:163690
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Gastrointestinal hemorrhage, Abdominal pain, Neonata... ORPHA:1414
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, EMG: myopathic abnormalities, Elevated hepatic transaminase, Hepatic ... ORPHA:99901
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Rhabdomyolysis, Hypoglycemia, Short stature, Elevated circulating creatine kinase concentration, ... OMIM:618120
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia, Osteoporosis, Renal phosphate wasting, Hyperphosphaturia, Hypercalciuria, Incre... OMIM:612286
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Narrow palate, Macrovesicular hepatic steatosis, Cardiomegaly, Renal i... OMIM:608836
Mccune-Albright Syndrome
Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increased circu... ORPHA:562
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Severe short stature, Aminoaciduria, Failure to thrive ORPHA:2278
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Dubin-Johnson Syndrome
Abnormal urinary color, Abdominal pain, Conjugated hyperbilirubinemia, Biliary tract abnormality,... ORPHA:234
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Growth delay, Flexion contracture, Hepatomegaly, Intrauterine growth ret... ORPHA:1194
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Diarrhea, Skeletal muscle atrophy, Increased sarcoplasmic ... ORPHA:370
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Feeding difficulties, Hepatomegaly, Failure to thrive, Intrauterin... OMIM:613861
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
EMG: myopathic abnormalities, Aminoaciduria, Generalized amyotrophy, Elevated circulating creatin... OMIM:609560
Cystinosis, Nephropathic
Hypohidrosis, Male hypogonadism, Failure to thrive in infancy, Delayed puberty, Skeletal muscle a... OMIM:219800
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Hirsutism, Abnormal circulating lipid concentration, Weight loss, ... ORPHA:2298
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Diarrhea, Skeletal muscle atrophy, Increased sarcoplasmic ... ORPHA:264580
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Growth delay, Hepatomegaly, Pancreatitis, Nausea and vomiting, Renal insufficienc... ORPHA:289916
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Growth delay, Hypoglycemia, Hepatomegaly, Hy... OMIM:306000
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Failure to th... OMIM:616963
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Cirrhosis, Abnormality of the kidney, Elevated hepatic transaminase, Hepatocellular... ORPHA:369
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Hepatic fibrosis, Abnormal circ... ORPHA:280356
Pentosuria
Abnormal urine carbohydrate level, Abnormality of circulating enzyme level, Abnormal circulating ... ORPHA:2843
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Pancreatitis, Diabetes mel... ORPHA:79084
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cardiomegaly, Elevated circulating creatine kinase concentration, Renal insuffic... ORPHA:228308
Cirrhosis, Familial
Micronodular cirrhosis, Esophageal varix, Jaundice, Abdominal distention, Increased level of prop... OMIM:215600
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia, Osteoporosis, Renal phosphate wasting, Hyperphosphaturia, Increased susceptibil... OMIM:612287
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Neonatal hypoglycemia, Polyphagia, Hypergonadotropic hypogonadism, Long eyelashes, ... OMIM:606407
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Adrenal hypoplasia, Polyphagia, Red hair, Hyperbilirubinemia, Decreased re... OMIM:609734
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Abdominal pain, Reduced 5-oxoprolinase level, Prolinuria, Diarrh... OMIM:260005
Juvenile Nephropathic Cystinosis
Hypocalcemia, Elevated circulating creatinine concentration, Abnormal urine potassium concentrati... ORPHA:411634
Xfe Progeroid Syndrome
Enamel hypoplasia, Prematurely aged appearance, Elevated hepatic transaminase, Absence of subcuta... OMIM:610965
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Feeding difficulties, Hypergonadotropic hypogonadism, Inc... ORPHA:79237
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria, Hyperhomocystinemia OMIM:236250
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Lipoatrophy, Progeroid facial appearance, Glomerulopathy, ... ORPHA:79087
Infantile Sialic Acid Storage Disease
High palate, Conjugated hyperbilirubinemia, Fair hair, Hepatomegaly, Splenomegaly, Cardiomegaly, ... OMIM:269920
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Hyperphosphaturia, Rickets, Growth delay, Elevated circulating al... ORPHA:89937
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Red-brown urine, Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatos... ORPHA:228305
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Polyphagia, Red hair, Growth de... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Polyphagia, Red hair, Growth de... ORPHA:71526
Citrullinemia Type Ii
Hypercholesterolemia, Decreased body mass index, Hypoproteinemia, Elevated hepatic transaminase, ... ORPHA:247585
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Abnormal localization of kidney, Prol... ORPHA:446
Glycogen Storage Disease Ic
Xanthelasma, Spider hemangioma, Hematuria, Chronic pancreatitis, Focal segmental glomeruloscleros... OMIM:232240
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Elevated hepatic transaminase, Giant cell hepatitis, Conjugat... OMIM:613404
Hyperuricemia, Hprt-Related
Renal insufficiency, Hyperuricemia, Podagra, Hyperuricosuria, Nephrolithiasis OMIM:300323
Peroxisome Biogenesis Disorder 6A (Zellweger)
Epiphyseal stippling, Hepatomegaly, Decreased liver function, Renal cyst, Feeding difficulties in... OMIM:614870
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Ornithinuria, Argininuria, Malabsorption, Hyperlysinuria OMIM:222690
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Rhabdomyolysis, Hypoglyc... OMIM:212138
Infantile Nephropathic Cystinosis
Hypophosphatemia, Low-molecular-weight proteinuria, Hyperphosphaturia, Rickets, Growth delay, Con... ORPHA:411629
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Elevated circulating creatinine concentration, Unilat... ORPHA:2260
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Glutamate-Cysteine Ligase Deficiency
Jaundice, Myopathy, Hepatosplenomegaly, Aminoaciduria ORPHA:33574
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hyperphosphaturia, Osteopenia, Severe short stature, Elevated circulating alkal... OMIM:156400
Hyperprolinemia, Type I
Hyperglycinuria, Hydroxyprolinuria, Prolinuria, Hyperprolinemia OMIM:239500
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Aminoaciduria, Methylmalonic aciduria, Cachex... ORPHA:1933
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoaciduria, Glycosuri... OMIM:618913
Multiple Carboxylase Deficiency
Hyperammonemia, Feeding difficulties, Decreased biotinidase level, Alopecia, Organic aciduria, Ab... ORPHA:148
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Lesch-Nyhan Syndrome
Dysphagia, Hyperuricemia, Podagra, Short stature, Vomiting, Hyperuricosuria, Nephrolithiasis OMIM:300322
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium, Renal salt wasting, Decrease... OMIM:613090
Hypertryptophanemia
Camptodactyly of finger, Limited elbow extension, Hypertryptophanemia, Generalized joint laxity, ... OMIM:600627
Methylmalonic Aciduria, Cblb Type
Hyperammonemia, Hyperglycinemia, Feeding difficulties in infancy, Hepatomegaly, Methylmalonic aci... OMIM:251110
Saccharopinuria
Histidinuria, Short stature, Citrullinuria, Hyperlysinuria OMIM:268700
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Decreased liver function, Hypoglycemia, 3-Methylglutaconic aciduria ORPHA:67048
Renal Cysts And Diabetes Syndrome
Abnormality of alkaline phosphatase level, Impaired glucose tolerance, Elevated circulating creat... OMIM:137920
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Chronic diarrhea, Glycosuria, Hyperactive bowel sounds, Failure ... OMIM:606824
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Hawkinsinuria
4-hydroxyphenylacetic aciduria, Sparse hair, Abnormal circulating tyrosine concentration, Failure... ORPHA:2118
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Insulin resistance, Oligospermia, Hepatic steatosis, Type II diabetes m... OMIM:615703
Holocarboxylase Synthetase Deficiency
Growth delay, Weight loss, Anorexia, Desquamation of skin soon after birth, Alopecia, Nausea and ... ORPHA:79242
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Diabetes mellitus, Oligomenorrhea OMIM:613877
Osteomesopyknosis
Infertility OMIM:166450
Orotic Aciduria
Hematuria, Reduced orotidine 5-prime phosphate decarboxylase level, Failure to thrive, Orotic aci... OMIM:258900
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Increased muscle lipid content, Hepatic steatosis, Hepatomegaly, H... OMIM:610717
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Increased urine alpha-ketoglutarate c... ORPHA:35878
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Recurrent urinary tract infections, Enuresis, Hyperoxaluria, Decreased glomer... ORPHA:93598
Hereditary Orotic Aciduria
Aminoaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria, Oroticaciduria ORPHA:30
Pearson Syndrome
Hypocalcemia, Pancreatic fibrosis, Postnatal growth retardation, Small for gestational age, Hypom... ORPHA:699
Hartnup Disorder
Neutral hyperaminoaciduria, Cutaneous photosensitivity, Glossitis, Short stature OMIM:234500
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Elevated alkaline phosphatase of ... OMIM:616828
Familial Parathyroid Adenoma
Parathyroid hyperplasia, Parathyroid carcinoma, Renal insufficiency, Hypophosphatemia, Hyperphosp... ORPHA:99877
Camptodactyly 1
Camptodactyly of finger, Increased urinary taurine OMIM:114200
Methylmalonic Aciduria, Cbla Type
Hyperammonemia, Hyperglycinemia, Feeding difficulties in infancy, Hepatomegaly, Methylmalonic aci... OMIM:251100
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Feeding difficulties in infancy, Hypoglycemia, Acute hyperammonemia, Failure to thrive, Vomiting,... OMIM:210200
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis, Muscular dystrophy, Aminoaciduria, Severe short stature OMIM:204730
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium,... OMIM:602522
Hypercalcemia, Infantile, 1
Polyuria, Weight loss, Hypercalciuria, Vomiting, Failure to thrive, Infantile hypercalcemia, Neph... OMIM:143880
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Stimmler Syndrome
Abnormal dental enamel morphology, Aminoaciduria, Short stature, Type II diabetes mellitus, Intra... ORPHA:3199
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Renal phosphate wasting, Delayed epiphyseal ossification, Rickets, Abnormal abd... OMIM:241530
Renal Glucosuria
Polyphagia, Polyuria, Glycosuria, Enuresis nocturna, Polydipsia OMIM:233100
Hyperlysinemia
Decreased urine alpha-ketoglutarate concentration, Hypoornithinemia, Hyperammonemia, Craniosynost... ORPHA:2203
Galactosemia
Cryptorchidism, Cirrhosis, Elevated hepatic transaminase, Feeding difficulties, Decreased serum i... ORPHA:352
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Cystic Echinococcosis
Bone cyst, Abnormality of the peritoneum, Weight loss, Jaundice, Abnormality of the diaphragm, Ab... ORPHA:400
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Polyuria, Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydr... OMIM:222100
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Elevated circulating alka... OMIM:616829
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Feeding difficulties, Polyuria, Hyperuricemia, Renal salt wasting, Hyponatremia, Type 2 muscle fi... OMIM:613845
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hepatic cysts, Decreased glomerular filtration rate, Gout, Stage 5 chronic kidney disease, Renal ... OMIM:618061
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Cholest... OMIM:614300
Camptodactyly-Taurinuria Syndrome
Camptodactyly of finger, Aminoaciduria, Increased urinary taurine, Camptodactyly of toe ORPHA:1325
Malaria
Nausea and vomiting, Hyperbilirubinemia, Acute kidney injury, Elevated circulating C-reactive pro... ORPHA:673
Leber Congenital Amaurosis 1
Hepatomegaly, Hyperthreoninuria, Hyperthreoninemia, Growth delay OMIM:204000
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts, Gastrointestinal hemorrhage, Abdominal pain, Pol... ORPHA:2924
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Feeding difficulties, Hypoglycemia, Failure to thrive, Hyperammonemia, 3-Methylglutaconic aciduria OMIM:614739
Tiglic Acidemia
Aminoaciduria, Episodic abdominal pain OMIM:275190
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Diabetes Mellitus, Permanent Neonatal, 3
Delayed social development, Hyperglycemia, Glycosuria, Type I diabetes mellitus, Ketonuria OMIM:618857
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Reduced bone mineral density, Failure to thriv... ORPHA:172
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Feeding difficulties, Dysphagia, Elevated circulating creatine kinase concentration, Organic acid... OMIM:255100
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria, Abnormal hair morphology OMIM:242550
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Insulin-resist... OMIM:604367
Glutamate Formiminotransferase Deficiency
Growth delay, Positive ferric chloride test, Aminoaciduria OMIM:229100
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase, Distal amyotro... OMIM:618400
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Arthrogryposis multiplex congenita, Elevated hepatic transaminase, Giant cell hepatitis, Conjugat... OMIM:208085
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Growth delay, Hyperbilirubinemia, Abnormality of the hairline, Ele... OMIM:614886
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Abnormality of renal excretion, Craniosynostosis, Hyperphosphaturia, Abn... ORPHA:289176
Hypophosphatemic Rickets
Hyperostosis, Hypercalciuria, Hypercalcemia, Joint stiffness, Elevated circulating parathyroid ho... ORPHA:437
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility OMIM:300719
Pauci-Immune Glomerulonephritis
Acute kidney injury, Purpura, Abdominal pain, Nephrotic range proteinuria, Elevated circulating c... ORPHA:93126
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Renal phosphate wasting, Rickets, Hypophosphatemic rickets, Elevated circulatin... OMIM:193100
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Hepatic lobular inflammation, Hirsutism, Fragile sk... ORPHA:101330
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Abnormality of the urina... ORPHA:99886
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Hyperglycemia, Contractures of the joints of the lower limbs,... ORPHA:99885
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Short stature, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Nausea and vomiting, Renal insufficiency, Hyperammonemia ORPHA:27
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia, Failure to thrive OMIM:129850
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Failure to thrive OMIM:236795
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets, Proximal tubulopathy, Polyuria, Hepatomegaly, Type I diabetes mellitus, Di... OMIM:560000
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Increased circulating lactate dehydrogen... OMIM:600649
Beta-Ketothiolase Deficiency
Hyperammonemia, Hyperglycemia, Oral aversion, Hyperuricemia, Weight loss, Hypoglycemia, Hepatomeg... ORPHA:134
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysphagia, Failure to thrive in infancy, Decreased glomerular filtration rate, Tubulointerstitial... ORPHA:488627
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Isolated Biliary Atresia
Xanthelasma, Atretic gallbladder, Conjugated hyperbilirubinemia, Jaundice, Decreased liver functi... ORPHA:30391
3-Hydroxy-3-Methylglutaric Aciduria
Hyperammonemia, Elevated hepatic transaminase, 3-Methylglutaric aciduria, Recurrent hypoglycemia,... ORPHA:20
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Fasting hypoglycemia, Hepatic steatosis, Renal steatosis, Ketonuria, Hypog... OMIM:261680
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Rickets, Intrahepatic cholestasis... OMIM:607765
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Abdominal pain, Polydipsia, Recurrent urinary t... OMIM:248250
Hsd10 Disease, Infantile Type
Hyperammonemia, Abnormal enzyme/coenzyme activity, Dysphagia, Hypoglycemia, Abnormal concentratio... ORPHA:391428
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Feeding difficulties in infancy, Decreased methionine synthase activity, Hypomethioninemia, Failu... OMIM:250940
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Combined Oxidative Phosphorylation Deficiency 9
Elevated hepatic transaminase, Feeding difficulties, Hepatomegaly, Hyperalaninemia, Failure to th... OMIM:614582
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatic failure, Failure to thr... OMIM:617049
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Propionyl-CoA carboxylase deficiency, Feeding difficulties, Hypoglycemia, Hyperglycinuria, Acute ... OMIM:210210
Preeclampsia
Abnormality of the hepatic vasculature, Acute kidney injury, Elevated hepatic transaminase, Abdom... ORPHA:275555
Muscular Dystrophy, Cardiac Type
Carnosinuria, Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:309930
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Decreased liver function, Hypergalactosemia OMIM:601466
Fumarase Deficiency
High palate, Hyperbilirubinemia, Aminoaciduria, Cholestasis, Failure to thrive, Hepatic failure, ... OMIM:606812
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Cystathioninuria
Nephrolithiasis, Cystathioninemia, Cystathioninuria ORPHA:212
Gitelman Syndrome
Abdominal pain, Hypocalciuria, Chondrocalcinosis, Nocturia, Renal potassium wasting, Growth delay... OMIM:263800
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating dodecanoylcarnitine concentration, Hyperglutaminemia, Elevated hepatic trans... OMIM:619355
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatic steatosis, Primary amenorrhea, Hepatomegaly, Splenomegaly, Hepatosple... OMIM:612526
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam... OMIM:271500
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Nephrotic range proteinuria, Lipodystrophy, Gas... ORPHA:300536
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Camptodactyly, Aminoaciduria, Elevated circulating long chain fatty acid concentr... OMIM:214110
Majeed Syndrome
Flexion contracture, Synovitis, Weight loss, Glomerulopathy, Hepatomegaly, Microscopic hematuria,... ORPHA:77297
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Mitochondrial Neurogastrointestinal Encephalomyopathy
Macrovesicular hepatic steatosis, Weight loss, Diarrhea, Vomiting, Cirrhosis, Abnormality of the ... ORPHA:298
Iminoglycinuria
Hyperglycinuria, Hydroxyprolinuria, Prolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Hydroxyprolinuria, Prolinuria ORPHA:42062
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Hypogonadism, Azoospermia, Primary amenorrhea OMIM:229070
Retinohepatoendocrinologic Syndrome
Infertility, Maturity-onset diabetes of the young, Degenerative liver disease, Hypothyroidism OMIM:268040
Pyruvate Carboxylase Deficiency
Lacticaciduria, Hyperammonemia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increa... ORPHA:3008
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Acute pancreatitis, Hepatomegaly, Hypertriglyceridemia, Hype... OMIM:608600
Hyperprolactinemia
Infertility, Menorrhagia, Oligomenorrhea OMIM:615555
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Hsd10 Disease
Dysphagia, Nasogastric tube feeding in infancy, Postnatal growth retardation, Elevated urinary 3-... ORPHA:391417
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Feeding difficulties, Hypoglycemia, Decreased liver function, Hype... OMIM:618329
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Hyperphosphaturia, Fibrous dysplasia of ... ORPHA:352540
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Rickets, Proximal tu... OMIM:300554
Glycogen Storage Disease Vii
Increased total bilirubin, Increased muscle glycogen content, Hyperuricemia, Cholelithiasis, Jaun... OMIM:232800
Tyrosinemia, Type I
Glomerular sclerosis, Renal insufficiency, Paralytic ileus, Cirrhosis, Enlarged kidney, Hypertyro... OMIM:276700
Hardikar Syndrome
Elevated hepatic transaminase, Hydroureter, Growth delay, Hyperbilirubinemia, Recurrent urinary t... OMIM:612726
Phenylketonuria
Maternal hyperphenylalaninemia, Reduced phenylalanine hydroxylase level, Hyperphenylalaninemia, F... OMIM:261600
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Compensated hypothyroidism, Hyperammonemia, EMG: myopathic abnormalities, ... ORPHA:480864
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Xanthelasma, Microvesicular hepatic steatosis, Abnormal urine potassium con... ORPHA:275761
Cystinuria
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption, Hypoglycemia ORPHA:2158
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Interstitial Lung And Liver Disease
Cirrhosis, Intraalveolar phospholipid accumulation, Elevated hepatic transaminase, Hepatic steato... OMIM:615486
Combined Oxidative Phosphorylation Deficiency 30
Elevated hepatic transaminase, Feeding difficulties, Gastroesophageal reflux, Decreased liver fun... OMIM:616974
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated... ORPHA:79234
Secondary Short Bowel Syndrome
Low plasma citrulline, Central hypothyroidism, Weight loss, Abnormal blood ion concentration, Dia... ORPHA:95427
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hyperglutaminemia, Feeding difficulties, Nausea, Hepatomegaly, Acute hyperammonemia, Reye syndrom... ORPHA:927
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Craniosynostosis, Increased blood urea nitrogen, Polyphagia, P... ORPHA:251004
2P21 Microdeletion Syndrome
Hypocalcemia, Growth delay, Long eyelashes, Hypoglycemia, Cystinuria, Failure to thrive, Hypogona... ORPHA:163693
Methionine Malabsorption Syndrome
White hair, Diarrhea, Aminoaciduria, Positive ferric chloride test OMIM:250900
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Decreased methionine synthase activity, Hypomethioninemia, Failure to thrive, Homocystinuria, Hyp... OMIM:236270
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Feeding difficulties in infancy,... OMIM:124000
Carnosinemia
Carnosinuria OMIM:212200
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Abdom... ORPHA:567548
Rowley-Rosenberg Syndrome
Reduced subcutaneous adipose tissue, Growth delay, Right ventricular hypertrophy, Aminoaciduria OMIM:268500
Caroli Disease
Conjugated hyperbilirubinemia, Weight loss, Anorexia, Jaundice, Vomiting, Cirrhosis, Intrahepatic... ORPHA:53035
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Renal tubular acidosis, Hepatic failur... ORPHA:156
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Babesiosis
Anorexia, Hepatomegaly, Jaundice, Hyperhidrosis, Hepatic failure, Splenomegaly, Nausea and vomiti... ORPHA:108
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hyperammonemia, Elevated hepatic transaminase, Premature pubarche, Acute rhabdomyolysis, Hypothyr... OMIM:616878
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Elevated hepatic transaminase, Feeding difficulties, Cholestasis, Hepa... OMIM:618528
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria, Failure to thrive OMIM:612718
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:157
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Insulin-resistant... OMIM:262190
Hydroxykynureninuria
Renal tubular dysfunction, Aminoaciduria OMIM:236800
Oculoskeletodental Syndrome
Cryptorchidism, Low anterior hairline, Hypocalcemia, Macroglossia, Mucopolysacchariduria, Hypothy... OMIM:618440
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria OMIM:204750
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia... OMIM:214950
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Hypothyroidism, Camptodactyly, Cholestasis, Hepatomegaly, Protein-losing enteropa... OMIM:608104
Citrullinemia Type I
Feeding difficulties, Gastroesophageal reflux, Torticollis, Failure to thrive, Hepatic failure, V... ORPHA:247525
Temple Syndrome
Cryptorchidism, Maturity-onset diabetes of the young, Hypercholesterolemia, Overweight, Joint hyp... OMIM:616222
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Medium chain dicarboxylic aciduria, Elevated hepatic transaminase, He... OMIM:201450
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Camptodactyly of finger, Hypercholesterolemia, Elevated amniotic fluid alpha-f... OMIM:309000
Beta-Thalassemia Intermedia
Jaundice, Decreased liver function, Increased susceptibility to fractures, Elevated hepatic iron ... ORPHA:231222
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Polycystic liver disease, Elevated circulating alkaline phosphatase co... OMIM:174050
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Hyperphosphaturia, Hypophosphatemic rickets, Growth delay, Recurrent fractures,... OMIM:163200
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Aredyld Syndrome
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the eyebrow, Craniofacial hyperostosis, ... ORPHA:1133
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Low anterior hairline, Elevated hepatic transaminase, Feeding difficulties, G... OMIM:608779
Urocanase Deficiency
Urocanic aciduria, Short stature, Fair hair OMIM:276880
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure, Nephrotic syndrome ORPHA:60
Mercaptolactate-Cysteine Disulfiduria
High palate, High, narrow palate, Aminoaciduria OMIM:249650
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Elevated hepatic transaminase, Abdomin... ORPHA:91547
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Hyperornithinemia, Hepatomegaly, Decreased liver function, Episodic vomiting, Fa... OMIM:238970
Lipodystrophy, Congenital Generalized, Type 1
Reduced intraabdominal adipose tissue, Hirsutism, Cirrhosis, Acute pancreatitis, Polycystic ovari... OMIM:608594
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin resistance, Hepatic steatosis, Insulin-resistant ... ORPHA:79085
Myasthenia Gravis
Acrocyanosis, Primary adrenal insufficiency, Rheumatoid arthritis, Dysphagia, Hashimoto thyroidit... ORPHA:589
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis, Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cho... ORPHA:79301
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Neonatal death, Hyperalaninemia, Hyperpro... OMIM:619003
Dicarboxylic Aminoaciduria
Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis, Aminoaciduria OMIM:222730
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hy... ORPHA:348
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Weight loss, Nephropathy, Hepatomegaly, Bence Jones Proteinuria, Spleno... ORPHA:100024
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Galactose Mutarotase Deficiency
Hypergalactosemia, Cholestasis, Hepatomegaly, Decreased liver function, Failure to thrive, Abnorm... ORPHA:570422
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Marburg Hemorrhagic Fever
Hematuria, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Abdominal pain, Weight los... ORPHA:99826
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, B... ORPHA:79302
Porphyria Variegata
Neurogenic bladder, Elevated hepatic transaminase, Abdominal pain, Scarring, Hepatocellular carci... ORPHA:79473
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Bone cyst, Hypertrichosis, Low posterior hairline, Low anterior hairline, C... ORPHA:528
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea, Hepatom... OMIM:235555
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Renal salt wasting, Increased circula... OMIM:612780
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated circulating gamma-aminobutyric acid concentration, Elevated urinary 4-hydroxybutyric aci... OMIM:271980
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Hepatomegaly, Jaundice, Glossoptosis, Elevated circulating aspartate aminot... OMIM:614876
Lipodystrophy, Congenital Generalized, Type 2
Reduced intraabdominal adipose tissue, Hirsutism, Cirrhosis, Acute pancreatitis, Polycystic ovari... OMIM:269700
Temple Syndrome
Cryptorchidism, Nasogastric tube feeding, Polyphagia, Feeding difficulties, Feeding difficulties ... ORPHA:254516
Macular Dystrophy, Retinal, 1, North Carolina Type
Generalized aminoaciduria OMIM:136550
Glycine Encephalopathy
Hyperglycinuria, Hyperglycinemia OMIM:605899
Congenital Bile Acid Synthesis Defect Type 2
Osteoporosis, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chron... ORPHA:79303
Biotinidase Deficiency
Feeding difficulties in infancy, Hepatomegaly, Decreased biotinidase level, Diarrhea, Alopecia, S... OMIM:253260
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Growth delay, Distal renal tubular acidosis, Hypercalciuria, Hypokalemia, Failure to thr... OMIM:602722
Atypical Werner Syndrome
Prematurely aged appearance, Ovarian neoplasm, Premature graying of hair, Increased bone mineral ... ORPHA:79474
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Pyloric stenosis, Hyperuricemia, Jaundice, Renal insufficiency, Joint hyperf... ORPHA:93111
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Elevated hepatic transaminase, Portal hypertension, Hyperb... OMIM:616278
Alg1-Cdg
Nephropathy, Hepatic failure ORPHA:79327
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Muscular dystrophy, Lipodystrophy, Abnormal circulating li... OMIM:615980
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Progeroid facia... ORPHA:79086
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Polyphagia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes me... ORPHA:71529
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Methylmalonic aciduria, Methylmalonic acidemia, Failure to thrive, Elevated circul... OMIM:612073
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Diarrhea, Hypersplenism, Vomiting, Cirrhosis, Increased hepatic echogenicit... OMIM:278000
Primary Sclerosing Cholangitis
Thyroiditis, Weight loss, Jaundice, Palmar telangiectasia, Hypoalbuminemia, Renal insufficiency, ... ORPHA:171
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased urinary potassium, Hypercalciuria, ... OMIM:601678
3-Methylglutaconic Aciduria, Type Iii
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria OMIM:258501
Homocarnosinosis
Carnosinuria OMIM:236130
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Spontaneous abortion OMIM:136580
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Esophageal varix, Hepatomegaly, Jaundice, Hypertriglyceridemia, ... ORPHA:75234
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Cirrhosis, Elevated hepatic tr... OMIM:256810
Phenylketonuria
Aminoaciduria ORPHA:716
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Severe... OMIM:211600
Lambert Syndrome
Failure to thrive in infancy, Cholestasis, Intrauterine growth retardation, Jaundice, Inguinal he... ORPHA:1296
Familial Expansile Osteolysis
Osteolysis, Hydroxyprolinuria, Elevated circulating alkaline phosphatase concentration, Pathologi... OMIM:174810
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, High palate, Hepatomegaly, Jaundice, Petechiae, Decreased liver fu... OMIM:251290
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Hypernatremia, Constipation, Polyuria, Failure to thrive, Short stature, Vomiting, Fe... OMIM:125800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Overweight, Elevated hepatic transaminase, Feeding difficulties, H... ORPHA:26793
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Aciduria, Hypoglycemia OMIM:617950
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Diabetes Insipidus, Nephrogenic, X-Linked
Megacystis, Hypernatremia, Constipation, Polyuria, Failure to thrive, Short stature, Vomiting, Fe... OMIM:304800
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Cataract 47
Glycosuria OMIM:612018
3-Methylglutaconic Aciduria, Type Ix
Urinary incontinence, Failure to thrive, 3-Methylglutaconic aciduria OMIM:617698
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Osteoporosis, Hepatic steatosis, Hypermethioninemia, Inguinal hernia, Generalized osteoporosis, L... OMIM:236200
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Villous atrophy, Protein-losing enteropathy, Hepatic fi... OMIM:602579
3-Methylglutaconic Aciduria Type 3
3-Methylglutaconic aciduria ORPHA:67047
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Rft1-Cdg
Arthrogryposis multiplex congenita, Feeding difficulties, Hepatomegaly, Short stature, Failure to... ORPHA:244310
Sengers Syndrome
Myopathy, 3-Methylglutaconic aciduria, Growth delay OMIM:212350
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Growth delay, Aminoaciduria, Failure to thrive OMIM:220120
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Donohue Syndrome
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Cho... OMIM:246200
Porphyria Due To Ala Dehydratase Deficiency
Purple urine, Increased erythrocyte protoporphyrin concentration, Abdominal pain, Constipation, N... ORPHA:100924
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Stillbirth, Growth delay, Hyperbilirubinemia, Osteopetrosis, Hepatomegaly, Absence ... OMIM:259720
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Xanthelasma, Thyroiditis, Hyperuricemia, Delayed puberty, Increased suscept... ORPHA:79259
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Elevated circulating alkalin... OMIM:307800
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, EMG: myopathic abnormalities, Osteolysis, Hepatic steatosi... ORPHA:52430
Sarcosinemia
Hypersarcosinemia, Hypersarcosinuria, Peroneal muscle weakness ORPHA:3129
Urocanic Aciduria
Abnormal circulating histidine concentration, Urocanic aciduria ORPHA:210128
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Osteopenia, Increased serum bile acid concentration OMIM:619256
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Hypophosphatemia, Delayed epiphyseal ossification, Sparse bone trabeculae, Gen... OMIM:264700
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyc... OMIM:610947
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Glucose intolerance, Impaired glucose tolerance, Cholestasis, Hepatic fibrosis,... OMIM:615630
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea OMIM:212840
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:237800
Bile Acid Conjugation Defect 1
Rickets, Elevated circulating alanine aminotransferase concentration, Conjugated hyperbilirubinem... OMIM:619232
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hepatic steatosis, Hypoketotic hypoglycemia, Growth delay, Dicarboxylic ac... OMIM:231530
Combined Oxidative Phosphorylation Deficiency 14
Growth delay, Aminoaciduria, Feeding difficulties OMIM:614946
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Adrenal hypoplasia, Postnatal growth retardation, Hypercalciuria, Hypercalcemia, ... OMIM:614732
Schaaf-Yang Syndrome
Cryptorchidism, Arthrogryposis multiplex congenita, Polyphagia, Feeding difficulties, Camptodacty... OMIM:615547
Mirizzi Syndrome
Elevated hepatic transaminase, Gallbladder perforation, Abdominal pain, Abdominal colic, Choleste... ORPHA:521219
Mulibrey Nanism
Hepatomegaly, Cachexia, Short stature, Intrauterine growth retardation ORPHA:2576
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Neonatal hypoglycemia, Hypothyro... ORPHA:66634
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Craniosynostosis, Unossified vertebr... OMIM:241500
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperammonemia, Glossitis, Feeding difficulties, Growth delay, Hypoglycemia, Glomerulopathy, Intr... ORPHA:79282
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Reduced glutathione synthetase level OMIM:266130
3-Methylglutaconic Aciduria Type 9
Urinary incontinence, Failure to thrive, Slender build, 3-Methylglutaconic aciduria ORPHA:505216
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis, Abnormal subcut... OMIM:212065
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Lambert Syndrome
Intrahepatic biliary atresia, Jaundice, Inguinal hernia, Hypospadias OMIM:245550
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, Hep... OMIM:601847
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content OMIM:261750
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Feeding difficulties OMIM:250620
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Osteolysis, Metacarpal osteolysis, Nephropathy, Carpal osteolysis, Cache... ORPHA:2774
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Familial Hemophagocytic Lymphohistiocytosis
Abnormal renal physiology, Increased circulating ferritin concentration, Elevated hepatic transam... ORPHA:540