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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:
Tcf1,  LFB1,  Hnf1alpha,  hepatocyte nuclear factor 1,  Hnf-1,  HNF1,  HNF1[a],  HNF1-alpha

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
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 17
Male infertility OMIM:617214
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hepatocellular carcinoma, Hepatomegaly, Elevated circulating alanine aminotran... ORPHA:2088
Oocyte/Zygote/Embryo Maturation Arrest 4
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Galactosemia Iii
Aminoaciduria, Vomiting, Hypergalactosemia, Decreased beta-galactosidase activity, Jaundice, Gala... OMIM:230350
Cholestasis, Progressive Familial Intrahepatic, 12
Elevated circulating alanine aminotransferase concentration, Short stature, Hyperbilirubinemia, J... OMIM:620010
Lysinuric Protein Intolerance
Hyperlysinuria, Diarrhea, Ornithinuria, Elevated hepatic transaminase, Hepatosplenomegaly, Glomer... ORPHA:470
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Renal tubular acidosis, Glycosuria, Jaundice, Elevated hepatic transaminase, Arthr... OMIM:613404
Argininemia
Hyperactivity, Vomiting, Portal fibrosis, Episodic vomiting, Oroticaciduria, Anorexia, Hyperammon... OMIM:207800
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Diarrhea, Hepatosplenomegaly, Intestinal obstruction, Hepatomegaly, Decrea... ORPHA:85450
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Elevated hepatic t... OMIM:616026
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss, Nausea and vomiting, Jaundice, Growth delay, Hepatomegaly, Feeding di... ORPHA:79238
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cardiomegaly, Vomiting, Diarrhea, Elevated urinary 3-hydroxybutyric acid, ... ORPHA:42
Argininosuccinic Aciduria
Aminoaciduria, Hepatic fibrosis, Vomiting, Dry hair, Trichorrhexis nodosa, Brittle hair, Feeding ... OMIM:207900
Rotor Syndrome
Intermittent jaundice, Porphyrinuria, Bilirubinuria, Storage in hepatocytes, Hyperbilirubinemia, ... ORPHA:3111
Fructose Intolerance, Hereditary
Hyperphosphaturia, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepatomegaly, ... OMIM:229600
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hype... OMIM:619386
Lysinuric Protein Intolerance
Aminoaciduria, Diarrhea, Hepatomegaly, Sparse hair, Splenomegaly, Intraalveolar phospholipid accu... OMIM:222700
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Diarrhea, Elevated hepatic transaminase, Abnormal circulating fatty-aci... ORPHA:263455
Dent Disease
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Thin bony cortex, Hyperp... ORPHA:1652
Gracile Syndrome
Aminoaciduria, Increased circulating ferritin concentration, Increased serum pyruvate, Cholestasi... OMIM:603358
Wilson Disease
Aminoaciduria, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hepatocellul... OMIM:277900
Pyruvate Dehydrogenase E3 Deficiency
Hyperisoleucinemia, Hepatic failure, Vomiting, Increased urine alpha-ketoglutarate concentration,... ORPHA:2394
Glycogen Storage Disease Ia
Hepatocellular carcinoma, Elevated hepatic transaminase, Hypoglycemia, Hyperlipidemia, Xanthelasm... OMIM:232200
Fanconi-Bickel Syndrome
Osteomalacia, Glycosuria, Malabsorption, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Reduce... OMIM:227810
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Proximal tubulopathy, Recurrent fractures, Short stature, Osteomalacia, ... OMIM:613388
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Carnitine Deficiency, Systemic Primary
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im... OMIM:212140
Citrullinemia, Classic
Cirrhosis, Vomiting, Episodic ammonia intoxication, Protein avoidance, Oroticaciduria, Failure to... OMIM:215700
Oocyte/Zygote/Embryo Maturation Arrest 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Ketonuria, Glycosuria, Abnormality of the gastrointestinal tract, Short sta... ORPHA:2089
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Fanconi Renotubular Syndrome 1
Aminoaciduria, Short stature, Osteomalacia, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypo... OMIM:134600
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Renal tubu... OMIM:255120
Galactosemia Ii
Prolonged neonatal jaundice, Hypergalactosemia, Galactosuria OMIM:230200
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Argininosuccinic Aciduria
Aminoaciduria, Trichorrhexis nodosa, Short stature, Oroticaciduria, Abnormal hair quantity, Hyper... ORPHA:23
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Recurrent fractures, Calcinosis, Feeding difficulties in infancy, Hyperphosphaturi... OMIM:239200
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Short stature, Beta 2-... OMIM:308990
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Abnormal serum bile acid concentration, Elevated hepatic transaminase, Hepatic... ORPHA:79303
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Skeletal muscle steatosis, Vomiting, Glycosuria, Hyperphosphaturia, Diffuse hepati... ORPHA:436271
Propionic Acidemia
Organic aciduria, Hypoglycemia, Hyperammonemia, Constipation, Propionyl-CoA carboxylase deficienc... ORPHA:35
Fanconi Renotubular Syndrome 3
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Rickets, Growth delay, Low-molecular... OMIM:615605
Saccharopinuria
Hyperlysinemia, Hyperlysinuria, Short stature, Citrullinuria, Abnormality of circulating enzyme l... ORPHA:3124
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Diarrhea, Elevated h... ORPHA:247598
Hereditary Renal Hypouricemia
Vomiting, Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physio... ORPHA:94088
Galactosemia I
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Increased level of ga... OMIM:230400
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Elevated circulating alanine aminotransferase concentration, Vomiting, Abdominal pain, Elevated c... OMIM:311250
Dent Disease 2
Umbilical hernia, Aminoaciduria, Proximal tubulopathy, Elevated circulating alanine aminotransfer... OMIM:300555
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Hepatitis, Elevated hepatic transaminase, Protein avoidance, Episodic vomiting, ... ORPHA:415
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Jaundice, Abdominal pain, Elevated hepatic transaminase, Hepatomegaly,... ORPHA:890
Hyperlysinuria With Hyperammonemia
Hyperlysinemia, Hyperlysinuria, Malabsorption, Dibasicaminoaciduria, Hyperammonemia, Growth delay OMIM:238750
Dent Disease 1
Aminoaciduria, Thin bony cortex, Hyperphosphaturia, Sparse bone trabeculae, Low-molecular-weight ... OMIM:300009
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Increased phosphoribosylpyrophosphate synthetase level, Uric acid nephrolithiasis, Crystalluria, ... ORPHA:411536
Mody
Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hypoinsulinemia, Hepatocellular adenoma, Gl... ORPHA:552
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, High palate, Glycosuria, Increased hepatocellular lipid droplets, Hyperphosphaturi... OMIM:220110
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Bicarbonate-wasting renal tubular acidosis, Hypoglycemia, Hypophospha... ORPHA:3337
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Elevated hepatic transaminase, Hypoglycemia, Hyperlipidemia, Hepatomega... OMIM:232220
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Pyloric stenosis, Hypoglycemia, Hyperammonemia, Splenomegaly ORPHA:664
Citrullinemia, Type Ii, Adult-Onset
Argininosuccinic aciduria, Hepatic fibrosis, Elevated circulating alanine aminotransferase concen... OMIM:603471
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Proximal Renal Tubular Acidosis
Aminoaciduria, Enamel hypomineralization, Diarrhea, Hyperphosphaturia, Bicarbonate-wasting renal ... ORPHA:47159
Multiple Acyl-Coa Dehydrogenase Deficiency
Proximal tubulopathy, Vomiting, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Ja... OMIM:231680
Propionic Acidemia
Vomiting, Hyperglycinemia, Limb hypertonia, Poor appetite, Short stature, Feeding difficulties in... OMIM:606054
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Recurrent fractures, Short stature, Hepatomegaly, Abnormal calcium-phosphate regul... ORPHA:417
Threoninemia
Hyperthreoninemia, Hyperthreoninuria, Growth delay OMIM:273770
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Aminoaciduria, Hyperphosphaturia, Decreased plasma carnitine, Hypoph... OMIM:219800
Hyper-Beta-Alaninemia
Hyperbeta-alaninemia, Failure to thrive, Increased urinary taurine OMIM:237400
Saccharopinuria
Hyperlysinuria, Short stature, Histidinuria, Elevated circulating sacchoropine concentration, Sac... OMIM:268700
Vitamin B12-Responsive Methylmalonic Acidemia
Nausea and vomiting, Failure to thrive, Hyperammonemia, Hepatomegaly, Renal insufficiency ORPHA:28
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Protein avoidance, Episodic vomiting, Failure to thrive, Hyperammonemia, Acute hepatitis, Hepatom... OMIM:238970
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hyperlipidemia, ... OMIM:232700
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Elevated alkaline phosphatase of bone origin, Increased circulating beta-C-terminal telopeptide c... ORPHA:157215
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Diarrhea, Feeding difficulties in infancy, D... ORPHA:71212
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... OMIM:619048
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Increased phosphoribosylpyrophosphate synthetase level, Uric acid nephrolithiasis, Crystalluria, ... ORPHA:411543
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated hepatic tr... ORPHA:26791
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Hyperprolinemia, Proteinuria ORPHA:419
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Joint laxity, Hepatic steatosis, Failure to thrive, Duplicated col... OMIM:617093
3-Methylglutaconic Aciduria Type 1
Failure to thrive, 3-Methylglutaconic aciduria, Hepatomegaly, Hypoglycemia ORPHA:67046
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Periportal fibrosis, Hepatocellular necrosis, Exercise-induced myoglobin... OMIM:201475
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Elevated circulating alanine aminotransferase concentration, Alaninuria, Elevated circulating asp... OMIM:615158
Tyrosinemia Type 1
Rickets of the lower limbs, Hepatocellular carcinoma, Generalized aminoaciduria, Hepatomegaly, Ac... ORPHA:882
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Hereditary Xanthinuria
Uric acid nephrolithiasis, Crystalluria, Sulfite oxidase deficiency, Recurrent urinary tract infe... ORPHA:3467
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Short sta... OMIM:619868
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Nephrotic syndrome, Progressive loss of facial adipose ... OMIM:608709
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia, Hyperammonemia, Failu... ORPHA:6
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Coproporphyria, Hereditary
Cutaneous photosensitivity, Vomiting, Diarrhea, Jaundice, Increased fecal coproporphyrin 3, Abdom... OMIM:121300
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Hepatic steatosis, Failur... ORPHA:26792
Iminoglycinuria
Prolinuria, Hyperglycinemia, Hydroxyprolinuria, Hyperprolinemia, Hydroxyprolinemia, Hyperglycinuria ORPHA:42062
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication, Hypoargininemia ORPHA:147
Familial Isolated Hyperparathyroidism
Primary hyperparathyroidism, Chondrocalcinosis, Parathyroid adenoma, Abdominal symptom, Hypophosp... ORPHA:99879
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Ketotic hypoglycemia, Decr... ORPHA:324575
Valinemia
Valinuria, Vomiting, Hypervalinemia, Failure to thrive OMIM:277100
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Decreased response to growth hormone stimulation test, Feeding difficulties... OMIM:606407
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Short stature, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria... ORPHA:97362
Distal Renal Tubular Acidosis
Aminoaciduria, Diarrhea, Hyperphosphaturia, Low-molecular-weight proteinuria, Nephrolithiasis, Po... ORPHA:18
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Uric acid nephrolithiasis, Hyperuricemia, Acute kidney injury, Dysuria, Gout, Nephropathy, Macros... ORPHA:79233
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Diarrhea, Renal dysplasia, Feeding difficulties in infancy, Elbow flexion contracture, Elevated h... OMIM:608836
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Cystinosis
Aminoaciduria, Hypothyroidism, Vomiting, Short stature, Malabsorption, Hypophosphatemia, Hypokale... ORPHA:213
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Elevated circulating alanine aminotransferase concentration, Micr... OMIM:613070
Hypouricemia, Renal, 1
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... OMIM:220150
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Cog7-Cdg
Diarrhea, Small for gestational age, Abnormality of the kidney, Jaundice, Elevated hepatic transa... ORPHA:79333
Wolcott-Rallison Syndrome
Central hypothyroidism, Hypothyroidism, Neonatal insulin-dependent diabetes mellitus, Decreased b... ORPHA:1667
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hyperuricemia, Vomiting, Decreased plasma carnitine, Increased level of 3-hydroxy-3-methylglutari... OMIM:246450
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism OMIM:307500
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Alaninuria, Elevated hepatic transaminase, Lacticaciduria, Hyperprolin... OMIM:616299
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Harderoporphyria
Cutaneous photosensitivity, Increased urine harderoporphyrin level, Vomiting, Red urine, Increase... OMIM:618892
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate,... OMIM:242530
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Vomiting, Diarrhea, Feeding difficulties in infancy, Generalized aminoaciduria,... OMIM:606528
Hyperprolinemia, Type Ii
Prolinuria, Hyperglycinuria, Hyperprolinemia, Hydroxyprolinuria OMIM:239510
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... ORPHA:730
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Decreased circulating free... ORPHA:276575
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Carnitine-Acylcarnitine Translocase Deficiency
Hypoketotic hypoglycemia, Cyanosis, Elevated circulating acylcarnitine concentration, Hepatic fai... ORPHA:159
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Cirrhosis, Nausea and vomiting, Jaundice, Abdominal pain, Acholic stools, Bilia... ORPHA:1414
Hyperprolinemia, Type I
Prolinuria, Hyperactivity, Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria OMIM:239500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Abdominal pain, Pancreatitis, Failure to thrive, Anorexia, Hyperammonemia, F... ORPHA:79312
Mitochondrial Trifunctional Protein Deficiency 1
Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Rhabdomyolysis, Small... OMIM:609015
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Impaired social interactions, Delayed speech and language development, Elevated... ORPHA:329249
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Maternal diabetes, Large f... ORPHA:276580
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Nonketotic hypoglyc... ORPHA:99901
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... ORPHA:276556
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Vomiting, Hyperglycinemia, Methylmalonic acidemia, Stage 5 chronic ... OMIM:251000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
3-Methylglutaconic aciduria, Rhabdomyolysis, Short stature, Elevated circulating creatine kinase ... OMIM:618120
Argininemia
Hyperammonemia, Diaminoaciduria ORPHA:90
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Failure to thrive, Severe short stature ORPHA:2278
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Hypotonia-Cystinuria Syndrome
Cystinuria, Failure to thrive, Polyphagia, Growth delay, Nephrolithiasis ORPHA:163690
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Feeding difficulties in infancy, Elevated hepatic transaminase, Elevated circulating alpha-fetopr... OMIM:251880
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Increased susceptibility to fractures, Hypophosphatemia, Hyperphosphatur... OMIM:612286
Lcat Deficiency
Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... ORPHA:650
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Mccune-Albright Syndrome
Precocious puberty, Abnormal testis morphology, Hyperphosphaturia, Hyperplasia of the Leydig cell... ORPHA:562
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... OMIM:615160
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Short stature, Hypokalemia, Increased circulating renin level, Decreased glome... OMIM:601198
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia, Reduced carnitine O-palmitoyltransferase level, Elevated circulating ac... ORPHA:228305
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Short stature, Abnormality of the kidney, Hepatocellular carcinoma, ... ORPHA:369
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Abnormality of the liver, Jaundice, Abdominal pain, Biliary t... ORPHA:234
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Limb-girdle muscle weakness, Diarrhea, Hepatocellular carcinoma, Elevated hepatic transaminase, E... ORPHA:370
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepa... ORPHA:264580
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Methylmalonic aciduria, Hyperhomocystinemia, Methylmalonic acidemia OMIM:613646
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria... ORPHA:228308
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Biliary cirrhosis, Decreased body weight, Abnormal circ... ORPHA:2298
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... ORPHA:2843
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, 3-Methylglutaconic aciduria, Flexion contracture, Abnormality of the kid... ORPHA:1194
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular atrophy, Aminoaciduria, Intrahepatic biliary atresia, Renal tubular acidosis, Small... OMIM:208085
Juvenile Nephropathic Cystinosis
Abnormal urine potassium concentration, Aminoaciduria, Hypocalcemic tetany, Low-molecular-weight ... ORPHA:411634
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Increased phosphoribosylpyrophosphate synthetase level, Uric acid nephrolithiasis, ... OMIM:300661
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Hypophosphatemia, Medullary nephrocalcinosis, Failure to thrive, Polyuri... OMIM:616963
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Dicarboxylic aciduria, Elevated hepatic transaminase, Neonatal hypoglycemia, Elev... OMIM:212138
Hydroxykynureninuria
Aminoaciduria, Jaundice, Vomiting OMIM:236800
Hyperlysinemia, Type I
Hyperlysinemia, Hyperlysinuria, Hyperactivity OMIM:238700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Hyperuricemia, Nephritis, Gout, Nephropathy, Decreased glomerular filtrati... OMIM:162000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Nausea and vomiting, Hyperammonemia, Growth delay, Hepatomegaly, Renal insufficiency, Pancreatiti... ORPHA:289916
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Reactive hypogl... ORPHA:35878
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid OMIM:206400
Isolated Polycystic Liver Disease
Increased total bilirubin, Gastroesophageal reflux, Abnormality of the pancreas, Feeding difficul... ORPHA:2924
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Increased susceptibility to fractures, Hypophosphatemia, Hyperphosphatur... OMIM:612287
Citrullinemia Type Ii
Diarrhea, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic steatosis, Hyperlipide... ORPHA:247585
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Hyperleucinemia, Vomiting, Ketonuria, Decreased plasma carnitine, Acute hyperammonemia,... OMIM:210210
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... ORPHA:280356
Infantile Nephropathic Cystinosis
Aminoaciduria, Vomiting, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Abnormal b... ORPHA:411629
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Limb-girdle muscle weakness, Diarrhea, Hepatocellular carcinoma, Elevated hepatic transaminase, E... ORPHA:79240
Hypercalcemia, Infantile, 1
Vomiting, Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Hypercalcemia, Ne... OMIM:143880
Essential Fructosuria
Hyperglycemia, Abnormality of glycolipid metabolism ORPHA:2056
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated circulating creati... OMIM:619468
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Short stature, Cachexia, Elevated circulating creatine kinase concentration, Skele... ORPHA:1933
Galactokinase Deficiency
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... ORPHA:79237
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria, Hyperhomocystinemia OMIM:236250
Neonatal Hemochromatosis
Hypoglycemia, Increased circulating ferritin concentration, Abnormal localization of kidney, Prol... ORPHA:446
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Hypophosphatemia, Hyperphosphaturia, Elevated circulating alkaline phosphatase conc... ORPHA:89937
Hartnup Disorder
Cutaneous photosensitivity, Hyperactivity, Short stature, Neutral hyperaminoaciduria, Glossitis, ... OMIM:234500
5-Oxoprolinase Deficiency
Prolinuria, Vomiting, Enterocolitis, Diarrhea, Calcium oxalate nephrolithiasis, Abdominal pain, R... OMIM:260005
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancrea... ORPHA:79084
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Hyperuricemia, Hprt-Related
Hyperuricemia, Podagra, Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71526
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria, Generalized amyotrophy, EMG: myopathic abnormalities, Facial diplegia, Elevated ci... OMIM:609560
Infantile Sialic Acid Storage Disease
High palate, Nephrotic syndrome, Fair hair, Failure to thrive, Osteopenia, Hepatomegaly, Cardiome... OMIM:269920
Hypophosphatemic Rickets, Autosomal Recessive, 2
Short stature, Hyperphosphaturia, Medullary nephrocalcinosis, Elevated circulating alkaline phosp... OMIM:613312
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Vomiting, Diarrhea, Weight loss, Cachexia, Failure to thrive... OMIM:612075
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Methylmalonic acidemia, Feeding difficulties in infancy, Elevated circulating crea... OMIM:612073
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urine acetoacetic acid level, Hypoornithinemia, Hyperalaninemia, Ketonuria, Elevated uri... OMIM:615751
Dibasic Amino Aciduria I
Hyperlysinuria, Malabsorption, Ornithinuria, Dibasicaminoaciduria, Argininuria OMIM:222690
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Cirrhosis, Hepatic failure, Microvesicular hepatic steatosis, 4-hydroxyphenyl... OMIM:617156
Peroxisome Biogenesis Disorder 6A (Zellweger)
Feeding difficulties in infancy, Epiphyseal stippling, Renal cyst, Hepatomegaly, Decreased liver ... OMIM:614870
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Vomiting, Ketonuria, Feeding difficulties in infancy, Acute hyperammonemia, 3-hydroxyisovaleric a... OMIM:210200
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia ORPHA:67048
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric acidemia, D-2-hydroxyglutaric aciduria OMIM:613657
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Vomiting, Ketonuria, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Hyperammonem... OMIM:615453
Acquired Partial Lipodystrophy
Glomerulopathy, Insulin resistance, Hepatic steatosis, Progeroid facial appearance, Myopathy, Lip... ORPHA:79087
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Vomiting, Methylmalonic acidemia, Dicarboxylic aciduria, Dicarboxylic acid... ORPHA:289504
Lesch-Nyhan Syndrome
Hyperuricemia, Vomiting, Short stature, Podagra, Dysphagia, Nephrocalcinosis, Nephrolithiasis, Hy... OMIM:300322
Glucose/Galactose Malabsorption
Glycosuria, Malabsorption, Abdominal distention, Failure to thrive, Hyperactive bowel sounds, Chr... OMIM:606824
Metaphyseal Chondrodysplasia, Jansen Type
Knee flexion contracture, Hip contracture, Hypophosphatemia, Hyperphosphaturia, Elevated circulat... OMIM:156400
Multiple Carboxylase Deficiency
Alopecia, Decreased circulating biotinidase concentration, Abnormal circulating enzyme concentrat... ORPHA:148
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Aminoaciduria, Elevated maternal serum alpha-fetoprotein, Hyperphosphatu... OMIM:309000
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... OMIM:615395
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Jaundice, Myopathy, Hepatosplenomegaly ORPHA:33574
Interstitial Lung And Liver Disease
Aminoaciduria, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cir... OMIM:615486
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Cirrhosis, Type II diabetes mellitus, Oligomenorrhea, Maternal diabetes, Insuli... OMIM:604367
Hypertryptophanemia
Camptodactyly of finger, Generalized joint laxity, Hypertryptophanemia, Limited elbow extension, ... OMIM:600627
Congenital Disorder Of Glycosylation, Type Iio
Elevated alkaline phosphatase of bone origin, Cirrhosis, Hepatic failure, Cholestatic liver disea... OMIM:616828
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypophosphatemic ric... OMIM:618913
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria, Growth delay OMIM:247950
Orotic Aciduria
Hematuria, Oroticaciduria, Failure to thrive, Orotic acid crystalluria, Reduced orotidine 5-prime... OMIM:258900
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Renal Cysts And Diabetes Syndrome
Abnormality of alkaline phosphatase level, Elevated hepatic transaminase, Biliary tract abnormali... OMIM:137920
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly ORPHA:30
Pearson Syndrome
Hypothyroidism, Adrenal insufficiency, Elevated hepatic transaminase, Lacticaciduria, Hepatic ste... ORPHA:699
Camptodactyly 1
Camptodactyly of finger, Increased urinary taurine OMIM:114200
Neutral Lipid Storage Disease With Myopathy
Short stature, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration,... OMIM:610717
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, 3-Methylglutaconic aciduria, Flexion contracture, Poor suck, Camptodactyly, Lactic... OMIM:604273
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Renal steatosis, Cyanosis, Elevated circulating alanine aminotransferase concentration, Hepatic f... OMIM:261680
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria, Attention deficit hyperactivity disorder OMIM:204750
Seckel Syndrome 10
Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur... OMIM:617253
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperaldosteronism, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased ... OMIM:613090
Renal Glucosuria
Enuresis nocturna, Glycosuria, Polyuria, Polyphagia, Polydipsia OMIM:233100
Stimmler Syndrome
Aminoaciduria, Short stature, Type II diabetes mellitus, Intrauterine growth retardation, Abnorma... ORPHA:3199
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Glycogen Storage Disease Ic
Spider hemangioma, Hyperuricemia, Chronic pancreatitis, Hematuria, Hepatocellular carcinoma, Hepa... OMIM:232240
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyuria, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Hypergl... OMIM:222100
Molybdenum Cofactor Deficiency, Complementation Group A
Sulfite oxidase deficiency, Increased urinary taurine, Increased urinary thiosulfate, Feeding dif... OMIM:252150
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Infertility, Azoospermia, Insulin resistance, Hepatic steatosis, Oligo... OMIM:615703
Osteomesopyknosis
Infertility OMIM:166450
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Vomiting, Elevated circulating thyroid-stimulating hormone concentration, Primar... OMIM:617872
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Glycosuria, Type I diabetes mellitus, Delayed social development, Hyperglycemia OMIM:618857
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubulointerstitial nephritis, Hyperuricemia, Stage 5 chronic kidney diseas... OMIM:174000
Malaria
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, N... ORPHA:673
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Methylmalonic Aciduria, Cblb Type
Vomiting, Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Feeding difficulties in infancy, De... OMIM:251110
Hypophosphatemic Rickets
Precocious puberty, Hyperphosphaturia, Fibrous dysplasia of the bones, Osteomalacia, Enthesitis, ... ORPHA:437
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyperuricemia, Renal salt wasting, Increased blood urea nitrogen, Failure to thrive, Polyuria, Di... OMIM:613845
Tiglic Acidemia
Episodic abdominal pain, Aminoaciduria OMIM:275190
Asherman Syndrome
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... ORPHA:137686
Primary Hyperoxaluria Type 1
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, Ca... ORPHA:93598
Camptodactyly-Taurinuria Syndrome
Camptodactyly of finger, Aminoaciduria, Camptodactyly of toe, Increased urinary taurine ORPHA:1325
Isolated Biliary Atresia
Hypothyroidism, Dark yellow urine, Fat malabsorption, Elevated hepatic transaminase, Hepatomegaly... ORPHA:30391
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoglycemic seizures, Abnormality of the pancr... OMIM:606762
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
3-Methylglutaconic aciduria, Failure to thrive, Hypoglycemia, Hyperammonemia, Feeding difficulties OMIM:614739
Hyperlysinemia
Hyperlysinemia, Hyperlysinuria, Hypoornithinemia, Gastroesophageal reflux, High palate, Hyperacti... ORPHA:2203
Galactosemia
Cirrhosis, Hepatic failure, Hypergalactosemia, Increased level of galactitol in plasma, Diarrhea,... ORPHA:352
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria, Abnormal hair morphology OMIM:242550
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Hepatic failure, Hyperalaninemia, Ketonuria, Increased urine alph... OMIM:619355
Alg1-Cdg
Chronic diarrhea, Nephrotic syndrome, Abnormality of the gastrointestinal tract, Abnormality of t... ORPHA:79327
Familial Renal Glucosuria
Recurrent urinary tract infections, Glycosuria, Insulin resistance, Nephropathy, Hyperglycemia, E... ORPHA:69076
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperargininemia, Hypercholesterolemia, Conjugated hyperbilirubinemia, Hyperthreo... OMIM:605814
Beta-Ketothiolase Deficiency
Oral aversion, Hyperuricemia, Vomiting, Diarrhea, Weight loss, Ketonuria, Agitation, Anorexia, Hy... ORPHA:134
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy, Aminoaciduria, Severe short stature, Osteoporosis OMIM:204730
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Short stature, Osteomalacia, Hypophosphatemia, Elevated circulating alka... OMIM:193100
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Elevated circulating creatine kinase concentration, Organic... OMIM:255100
Methylmalonic Aciduria, Cbla Type
Vomiting, Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Feeding difficulties in infancy, De... OMIM:251100
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... OMIM:616829
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Abnormal circulating calcium concentration, Thin bony cortex, Recurrent ... OMIM:241530
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Failure to thrive OMIM:236795
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Vomiting, Diarrhea, Type I diabetes mellitus, Rickets, Failure to thrive, P... OMIM:560000
Edinburgh Malformation Syndrome
Failure to thrive, Jaundice, Neonatal hyperbilirubinemia, Frontal hirsutism OMIM:129850
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Nephroblastoma, Hepatic failure, Hyperbilirubinemia, Hepatocellular carcinoma, Abnormal renal phy... ORPHA:158057
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Growth delay, Positive ferric chloride test OMIM:229100
Holocarboxylase Synthetase Deficiency
Alopecia, Weight loss, Nausea and vomiting, Organic aciduria, Anorexia, Hyperammonemia, Growth delay ORPHA:79242
Cystic Echinococcosis
Abnormality of the testis size, Elevated hepatic transaminase, Abnormality of the peritoneum, Hep... ORPHA:400
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Gout, Decreased glomerular filtratio... OMIM:618061
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Cyanosis, Nephrotic syndrome, Decreased glomerular filtration rate,... ORPHA:488627
Hereditary Coproporphyria
Abnormal circulating porphyrin concentration, Cutaneous photosensitivity, Porphyrinuria, Small in... ORPHA:79273
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Porphyria Cutanea Tarda
Scarring, Hepatocellular carcinoma, Elevated hepatic transaminase, Portal inflammation, Hepatic s... ORPHA:101330
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Vomiting, Elevated hepatic transaminase, Elevated circulating creatine ... OMIM:600649
Progressive Familial Intrahepatic Cholestasis
Short stature, Malabsorption, Jaundice, Failure to thrive, Cholestasis, Hepatomegaly, Hypocalcemi... ORPHA:172
3-Hydroxy-3-Methylglutaric Aciduria
Hyperuricemia, Diarrhea, Weight loss, Ketonuria, Nonketotic hypoglycemia, Jaundice, Elevated hepa... ORPHA:20
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Methylmalonic acidemia, Short stature, Hyperhomocystinemia, Failure to thrive, Methylmalonic acid... OMIM:309541
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly ORPHA:294
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Hemorrhagic Fever-Renal Syndrome
Decreased body weight, Diarrhea, Acute tubulointerstitial nephritis, Elevated hepatic transaminas... ORPHA:340
Hypomagnesemia 3, Renal
Hyperuricemia, Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiu... OMIM:248250
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Abnormality of the urinary system, Diabetic... ORPHA:99886
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Lower-limb joint contracture, Neonatal insulin-dependent diabetes mellitus... ORPHA:99885
Sulfite Oxidase Deficiency, Isolated
Sulfite oxidase deficiency, Agitation, Elevated circulating creatine kinase concentration, Increa... OMIM:272300
Hsd10 Disease, Infantile Type
Cyanosis, Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary ... ORPHA:391428
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility OMIM:300719
Vitamin B12-Unresponsive Methylmalonic Acidemia
Nausea and vomiting, Hyperammonemia, Hepatomegaly, Renal insufficiency, Pancreatitis ORPHA:27
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Elevated alkaline phosphatase of bone origin, Hypocalcemic tetany, Abnor... ORPHA:289176
Glycine Encephalopathy
Hyperactivity, Hyperglycinemia, Impulsivity, Restlessness, Hyperglycinuria OMIM:605899
Congenital Disorder Of Glycosylation, Type Iik
Hemolytic-uremic syndrome, Elevated circulating alanine aminotransferase concentration, Short sta... OMIM:614727
Glycogen Storage Disease Xii
Reduced haptoglobin level, Muscle fiber splitting, Elevated circulating alanine aminotransferase ... OMIM:611881
Hyperbiliverdinemia
Green urine, Elevated circulating biliverdin concentration, Cholestasis, Decreased liver function... OMIM:614156
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Decreased methionine synthase activity, Feeding difficulties in infancy, Hyperhomocystinemia, Hyp... OMIM:250940
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Mildly elevated creatine kinase, Hepatic steatosis, Foot dorsiflex... OMIM:618400
Hemochromatosis, Type 4
Cirrhosis, Impotence, Impaired glucose tolerance, Hepatic steatosis, Diabetes mellitus, Hepatomeg... OMIM:606069
Cholestasis, Progressive Familial Intrahepatic, 11
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:619874
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Tubulointerstitial nephritis, Abnormality of the gastrointestinal tr... ORPHA:93126
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia, Exercise-induced myoglobinuria, Jaundice, Gout, Increas... OMIM:232800
Idiopathic Hypercalciuria
Abnormal circulating calcium concentration, Calcium oxalate nephrolithiasis, Parathormone-indepen... ORPHA:2197
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hepatic failure, Villous atrophy, Diarrhea, Vo... OMIM:602579
Majeed Syndrome
Glomerulopathy, Increased susceptibility to fractures, Flexion contracture, Osteomyelitis, Weight... ORPHA:77297
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Gitelman Syndrome
Vomiting, Rhabdomyolysis, Hypokalemia, Abdominal pain, Nocturia, Increased circulating renin leve... OMIM:263800
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Hypospadias, Micronodular cirrhosis, ... OMIM:301045
Preeclampsia
Increased body mass index, Acute kidney injury, Abnormality of the kidney, Small for gestational ... ORPHA:275555
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Hypergalactosemia, Decreased liver function OMIM:601466
Ddost-Cdg
Nephrotic range proteinuria, Gastroesophageal reflux, Short stature, Elevated hepatic transaminas... ORPHA:300536
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Diabetes insipidus, Short stature, Hypogonadism, Type II diabetes mellitus,... ORPHA:181393
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Cirrhosis, Nausea and vomiting, Glycosuria, Malabsorption, Failure to thrive, Elevated hemoglobin... OMIM:616539
Tyrosinemia, Type I
Hepatocellular carcinoma, Elevated hepatic transaminase, Elevated circulating alpha-fetoprotein c... OMIM:276700
Lysosomal Acid Lipase Deficiency
Abnormal urine potassium concentration, Diarrhea, Cachexia, Elevated hepatic transaminase, Primar... ORPHA:275761
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Variegate Porphyria
Cutaneous photosensitivity, Porphyrinuria, Vomiting, Increased fecal protoporphyrin concentration... OMIM:176200
Leber Congenital Amaurosis 1
Hyperthreoninemia, Hyperthreoninuria, Growth delay, Hepatomegaly OMIM:204000
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Impaired renal concentrating ability, Hyperaldosteronism, Hypokalemia, Renal salt wasting, Hypern... OMIM:602522
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Cirrhosis, Elevated circulating alanine aminotransferase concentration, Jaundice... OMIM:617049
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Abdominal distention, Renal cyst, Elevated circulating alkaline phosph... OMIM:174050
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hepatic failure, Decreased body weight, Poor suck, Short stature, Hyperbilirubinemia, Elevated he... OMIM:614886
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hyperhidrosis, Elevated circulating alanine aminotransferase concentration, Hyperglycinemia, Hype... OMIM:245400
Combined Oxidative Phosphorylation Deficiency 36
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Lower limb muscle w... OMIM:617950
Hawkinsinuria
4-hydroxyphenylacetic aciduria, Abnormal circulating tyrosine concentration, Fine hair, Failure t... ORPHA:2118
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Grade II vesicoureteral reflux, Microvesicular hepatic steatosis, Prolonged neo... OMIM:619377
Iminoglycinuria
Prolinuria, Hyperglycinuria, Hydroxyprolinuria OMIM:242600
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Cachexia, Elevated hepatic transaminase, Abnormality of the extraocular muscles, Dyspha... ORPHA:298
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Phenylketonuria
Reduced phenylalanine hydroxylase level, Hyperactivity, Fair hair, Hyperphenylalaninemia, Materna... OMIM:261600
Oncogenic Osteomalacia
Renal phosphate wasting, Increased susceptibility to fractures, Hypophosphatemia, Hyperphosphatur... ORPHA:352540
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Ketonuria, Feeding difficulties in infancy, Ele... ORPHA:480864
Muscular Dystrophy, Cardiac Type
Carnosinuria, Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:309930
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Hypoplasia of the thymus, Poor suck, Joint contracture of the hand, Polycystic kid... OMIM:214110
Lipodystrophy, Congenital Generalized, Type 3
Short stature, Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepat... OMIM:612526
Senior-Boichis Syndrome
Abnormal renal insterstitial morphology, Elevated hepatic transaminase, Malformation of the hepat... ORPHA:84081
Carnitine Palmitoyltransferase Ii Deficiency
Tubulointerstitial nephritis, Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concen... ORPHA:157
Congenital Disorder Of Glycosylation, Type Ih
Hypothyroidism, Vomiting, Diarrhea, Ascites, Camptodactyly, Abdominal distention, Failure to thri... OMIM:608104
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Renal tubular acidosis, Elevated hepatic transaminase, Transient hyperlipidemia,... ORPHA:156
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hyperglycemia, Hypertrigly... OMIM:608600
Combined Oxidative Phosphorylation Deficiency 30
Gastroesophageal reflux, Elevated circulating alanine aminotransferase concentration, Hyperalanin... OMIM:616974
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Gastroesophageal reflux, Hyperalaninemia, Renal tubular acidosis, Small for gestational age, Type... OMIM:615471
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria, Failure to thrive OMIM:612718
Molybdenum Cofactor Deficiency, Complementation Group B
Increased urinary taurine, Increased urinary hypoxanthine, Xanthine nephrolithiasis, Increased ur... OMIM:252160
Fumarase Deficiency
Aminoaciduria, Hepatic failure, High palate, Reduced subcutaneous adipose tissue, Hyperbilirubine... OMIM:606812
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Thin bony cortex, Proximal tubulopathy, Delayed epiphyseal ossification,... OMIM:300554
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic diarrhea, Villous atrophy, Erythema, 3-Methy... OMIM:557000
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hyperalaninemia, Vomiting, Diarrhea, Poor appetite, Reye syndrome-like episodes, Acute hyperammon... ORPHA:927
Lipodystrophy, Familial Partial, Type 5
Irregular menstruation, Diabetic ketoacidosis, Hepatic steatosis, Decreased serum leptin, Decreas... OMIM:615238
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Elevated circulating acylcarnitine concentration, Premature thelarche, Rhabdomyol... OMIM:616878
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Increased level of gamma-aminobutyric acid in urine, Elevated circulating gamma-am... OMIM:271980
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Carnosinemia
Carnosinuria OMIM:212200
Glucoglycinuria
Glycosuria, Hyperglycinuria OMIM:138070
2P21 Microdeletion Syndrome
Hypogonadism, Long eyelashes, Cystinuria, Failure to thrive, Hypoglycemia, Growth delay, Hypocalc... ORPHA:163693
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... OMIM:220100
Peroxisome Biogenesis Disorder 13A (Zellweger)
Elevated circulating alanine aminotransferase concentration, Increased circulating very long-chai... OMIM:614887
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Short stature, Enlarged kidney, Membranoproliferative glomerulonephritis, In... ORPHA:251004
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urine output, Acute kidn... ORPHA:567548
Relapsing Fever
Increased total bilirubin, Increased circulating lactate dehydrogenase concentration, Vomiting, D... ORPHA:91547
Beta-Thalassemia Intermedia
Hypothyroidism, Abnormality of iron homeostasis, Adrenal insufficiency, Hepatocellular carcinoma,... ORPHA:231222
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Decreased methionine synthase activity, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni... OMIM:236270
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal spermatogenesis, Abnormal meiosis ORPHA:488191
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Diabetes mellitus, Hyperammone... OMIM:271500
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Vomiting, Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglyce... OMIM:201450
Aredyld Syndrome
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Short stature, Type II diabetes mellitus, Ca... ORPHA:1133
Secondary Short Bowel Syndrome
Central hypothyroidism, Diarrhea, Abnormal blood ion concentration, Intestinal atresia, Enterocol... ORPHA:95427
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Recurrent fractures, Short stature, Hyperphosphaturia, Hypophosphatemic rickets, Osteop... OMIM:163200
Methionine Malabsorption Syndrome
White hair, Aminoaciduria, Diarrhea, Positive ferric chloride test OMIM:250900
Oculoskeletodental Syndrome
Hypothyroidism, Low anterior hairline, Short stature, Small for gestational age, Elbow flexion co... OMIM:618440
Cystathioninuria
Nephrolithiasis, Cystathioninemia, Cystathioninuria ORPHA:212
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Hyperprolinemia Type 2
Prolinuria, Hyperalaninemia, Hyperglycinemia, Diarrhea, Increased urine alpha-ketoglutarate conce... ORPHA:79101
Hsd10 Disease
Nasogastric tube feeding in infancy, Elevated urinary 3-hydroxybutyric acid, Gastrointestinal dys... ORPHA:391417
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Reduced glutathione synthetase level, Glyoxalase deficiency, Increased level of L-pyroglutamic ac... OMIM:231900
3-Methylglutaconic Aciduria, Type V
Elevated circulating alanine aminotransferase concentration, 3-Methylglutaconic aciduria, Microve... OMIM:610198
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria, High palate, High, narrow palate OMIM:249650
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen... ORPHA:209919
Myasthenia Gravis
Hyperthyroidism, Rheumatoid arthritis, Glycosuria, Hepatitis, Acrocyanosis, Primary adrenal insuf... ORPHA:589
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Unconjugated hyperbilirubinemia, Biliary tract abnormality, Neonatal hy... ORPHA:79234
Lysosomal Acid Lipase Deficiency
Diarrhea, Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholes... OMIM:278000
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Recurrent fractures, Short stature, Increased bone mineral dens... OMIM:239000
Combined Oxidative Phosphorylation Deficiency 37
3-Methylglutaconic aciduria, Hyperalaninemia, Elevated hepatic transaminase, Elevated gamma-gluta... OMIM:618329
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperalaninemia, Vomiting, Hypoglutaminemia, Hypertaurinemia, Lacticaciduria, Fai... ORPHA:3008
Babesiosis
Hyperhidrosis, Hepatic failure, Nausea and vomiting, Jaundice, Limitation of joint mobility, Anor... ORPHA:108
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Cirrhosis, Diarrhea, Fat malabsorption, Jaundice, Elevated hepatic transaminase,... OMIM:607765
Lipodystrophy, Congenital Generalized, Type 1
Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Elevated hepatic tran... OMIM:608594
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Nephrotic syndrome, Hepatitis, Jaundice, Hepatomegaly ORPHA:60
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Long penis, Hypoglycemia, Postprandi... OMIM:262190
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Increased serum bile acid concentra... OMIM:619256
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Atypical Werner Syndrome
Osteolytic defects of the phalanges of the hand, Decreased body weight, Premature graying of hair... ORPHA:79474
Xfe Progeroid Syndrome
Cutaneous photosensitivity, Enamel hypoplasia, Absence of subcutaneous fat, Prematurely aged appe... OMIM:610965
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Decreased body weight, Increased blood urea nitrogen, Failure to thrive, Hyperam... OMIM:620085
Caroli Disease
Biliary cirrhosis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia,... ORPHA:53035
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Elevated circulating alanine aminotransferase concentration, Hyperbilirubinemia, Elevated circula... OMIM:619685
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hypoglycemia, Increased serum pyruvate, Hepatomegaly, Decreased li... OMIM:246900
Galactose Mutarotase Deficiency
Hypergalactosemia, Abnormal circulating enzyme concentration or activity, Failure to thrive, Chol... ORPHA:570422
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Severe short stature, Hypoglycemia, Decreased s... OMIM:262400
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neo... ORPHA:79301
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
2,4-Dienoyl-Coa Reductase Deficiency
Hyperlysinemia, Hyperlysinuria, Failure to thrive, Decreased plasma free carnitine OMIM:616034
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Diarrhea, Vomiting, Elevated hepatic transaminase, Reye syndrome-... ORPHA:348
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Short stature, Small f... ORPHA:254516
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Vomiting, Hypokalemia, Distal renal tubular acidosis, Rickets, Failure to thrive, Growth delay, N... OMIM:602722
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, ... OMIM:618314
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Low alkaline phosphatase, Phosphoethanolaminuria, Elevated urine p... OMIM:241500
Mpi-Cdg
Hypothyroidism, Hepatic fibrosis, Vomiting, Diarrhea, Hyperinsulinemic hypoglycemia, Abnormal cir... ORPHA:79319
Liver Disease, Severe Congenital
Aminoaciduria, Diarrhea, Peritonitis, Elevated hepatic transaminase, Portal inflammation, Hyperin... OMIM:619991
Genetic Recurrent Myoglobinuria
Abnormality of glycolipid metabolism, Hyperphosphatemia, Lower limb muscle weakness, Abnormality ... ORPHA:99845
Bartter Syndrome, Type 1, Antenatal
Diarrhea, Chondrocalcinosis, Hyperactive renin-angiotensin system, Renal salt wasting, Hyperchlor... OMIM:601678
Dicarboxylic Aminoaciduria
Fasting hypoglycemia, Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Glutaric Acidemia Type 3
Ketonuria, Abnormality of circulating enzyme level, Failure to thrive, Impulsivity, Elevated circ... ORPHA:35706
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis, Elevated circulating alanine aminotransferase concentration, Hypera... OMIM:614582
Peroxisome Biogenesis Disorder 8A (Zellweger)
Feeding difficulties in infancy, Jaundice, Epiphyseal stippling, Elevated circulating aspartate a... OMIM:614876
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... OMIM:613095
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182
Mu-Heavy Chain Disease
Weight loss, Osteoporosis, Nephropathy, Osteolysis, Hepatomegaly, Bence Jones Proteinuria, Spleno... ORPHA:100024
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Lipodystrophy, Congenital Generalized, Type 2
Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Elevated hepatic tran... OMIM:269700
Hardikar Syndrome
Hypoplasia of the bladder, Cleft soft palate, Elevated hepatic transaminase, Portal inflammation,... OMIM:301068
Homocarnosinosis
Carnosinuria OMIM:236130
Biotinidase Deficiency
Alopecia, Vomiting, Diarrhea, Decreased circulating biotinidase concentration, Feeding difficulti... OMIM:253260
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Feeding difficulties in infancy, Elevated hepatic transaminase, Lacticaciduria, He... OMIM:124000
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Hypospadi... OMIM:614732
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Hypothyroidism, Elevated hepatic transaminase, Hepatic steatosis, Polydipsia, Mul... ORPHA:93111
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Decreased serum leptin, Decreased adiponectin level, Insul... ORPHA:79085
Cholestasis-Lymphedema Syndrome
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Elevated circulating alkaline ... OMIM:214900
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Vomiting, Short stature, Feeding difficulties in infancy, Failure to thrive, Polyuria, Constipati... OMIM:125800
Congenital Disorder Of Glycosylation, Type Iie
Elevated circulating creatine kinase concentration, Hypoglycemia, Hepatomegaly, Decreased liver f... OMIM:608779
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria, Feeding difficulties in infancy, Nausea and vomiting ORPHA:833
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Episodic abdominal pain, Dysphagia, Acute kidney injury, Hemoglobinuri... ORPHA:447
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Vomiting, Short stature, Feeding difficulties in infancy, Failure to thrive, Polyuria, Constipati... OMIM:304800
Primary Pigmented Nodular Adrenocortical Disease
Elevated hepatic transaminase, Adrenal hyperplasia, Dorsocervical fat pad, Hepatic steatosis, Par... ORPHA:189439
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hypospadias, Hyperammonemia, Hypoglycemia, Dysphagia, Feeding difficul... OMIM:618253
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hepatic steatosis, Skeletal muscle hypertrophy, Hepatomegaly, Bone cys... ORPHA:528
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Phosphohydroxylysinuria
Phosphohydroxylysinuria