banner
Genes Phenotypes Help, News, Blog

Gene: Hnf1a MGI:98504

Log in to follow
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 Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 17
Infertility OMIM:617214
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
Fanconi-Bickel Syndrome
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Osteopeni... ORPHA:2088
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Galactosemia Iii
Failure to thrive, Hepatomegaly, Aminoaciduria, Decreased beta-galactosidase activity, Splenomega... OMIM:230350
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Short stature, Elevated circulating aspartate ami... OMIM:620010
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Decreased glomerular fi... ORPHA:470
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Failure to thrive, Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Renal tubular a... OMIM:613404
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposit... ORPHA:85450
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Elevated circulating alkaline phosphatase concentr... OMIM:616026
Galactose Epimerase Deficiency
Hepatomegaly, Aminoaciduria, Feeding difficulties, Splenomegaly, Weight loss, Growth delay, Nause... ORPHA:79238
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Diarrhea, Elevated circulating ... ORPHA:42
Argininemia
Oroticaciduria, Hepatomegaly, Micronodular cirrhosis, Postnatal growth retardation, Hyperammonemi... OMIM:207800
Argininosuccinic Aciduria
Failure to thrive, Oroticaciduria, Hepatomegaly, Aminoaciduria, Brittle hair, Episodic ammonia in... OMIM:207900
Fructose Intolerance, Hereditary
Hepatomegaly, Hyperuricosuria, Glycosuria, Vomiting, Hyperuricemia, Proximal tubulopathy, Gastroi... OMIM:229600
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Aminoaciduria, Anorexia, Elevated circulating creatine kinas... OMIM:619386
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Sparse hair, Diarrhea, ... OMIM:222700
Dent Disease
Renal hypophosphatemia, Hyperuricosuria, Glycosuria, Hematuria, Thin bony cortex, Proteinuria, Pr... ORPHA:1652
Gracile Syndrome
Increased circulating ferritin concentration, Aminoaciduria, Increased serum pyruvate, Cholestasi... OMIM:603358
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Wilson Disease
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... OMIM:277900
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Hepatomegaly, Feeding diffi... ORPHA:2394
Glycogen Storage Disease Ia
Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Gout, Enlarged kidney, Proteinu... OMIM:232200
Rotor Syndrome
Jaundice, Abnormal enzyme/coenzyme activity, Hyperbilirubinemia, Conjugated hyperbilirubinemia, B... ORPHA:3111
Fanconi-Bickel Syndrome
Renal tubular dysfunction, Reduced subcutaneous adipose tissue, Malabsorption, Failure to thrive,... OMIM:227810
Citrullinemia, Classic
Failure to thrive, Oroticaciduria, Hepatomegaly, Episodic ammonia intoxication, Hyperammonemia, C... OMIM:215700
Oocyte Maturation Defect 11
Female infertility OMIM:619643
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
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Short stature, Osteopenia, Glycosuria, Hypercalciuria, Elevated alkaline phosph... OMIM:613388
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Elevated... ORPHA:263455
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Ketonuria, Hyperlipidemia, Short stature, Ketotic ... ORPHA:2089
Galactosemia Ii
Hypergalactosemia, Galactosuria, Prolonged neonatal jaundice OMIM:230200
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Argininosuccinic Aciduria
Oroticaciduria, Abnormal hair quantity, Aminoaciduria, Hyperammonemia, Short stature, Hyperglutam... ORPHA:23
Galactosemia I
Decreased liver function, Increased level of galactitol in urine, Failure to thrive, Hepatomegaly... OMIM:230400
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Decreased liver function, Failure to thrive, Hepatomegaly, Aminoacidur... ORPHA:436271
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Short stature, Hyposthenuria, Glycosuria,... OMIM:308990
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Polydipsia, Hypophosphatemia, Hepatomegaly, Aminoaciduria, Constipation, Splen... OMIM:239200
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepa... ORPHA:79303
Propionic Acidemia
Constipation, Hepatomegaly, Hyperammonemia, Propionyl-CoA carboxylase deficiency, Hypoglycemia, O... ORPHA:35
Fanconi Renotubular Syndrome 3
Growth delay, Aminoaciduria, Short stature, Glycosuria, Low-molecular-weight proteinuria, Elevate... OMIM:615605
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Short stature, Elevated circulating crea... OMIM:300555
Saccharopinuria
Citrullinuria, Hyperlysinemia, Cystinuria, Hyperammonemia, Short stature, Hyperlysinuria, Abnorma... ORPHA:3124
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
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
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Failure to thrive, Oroticaciduria, Abdominal pain, Episodic ammonia intoxication, Hyperammonemia,... OMIM:311250
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transami... OMIM:614817
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Failure to thrive, Oroticaciduria, Hepatomegaly, Hyperornithinemia, Fee... ORPHA:415
Saccharopinuria
Elevated circulating sacchoropine concentration, Histidinuria, Citrullinuria, Short stature, Hype... OMIM:268700
Hyperlysinuria With Hyperammonemia
Malabsorption, Hyperlysinemia, Hyperammonemia, Hyperlysinuria, Growth delay, Dibasicaminoaciduria OMIM:238750
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Diarrhea, Cholestasis, Hyp... ORPHA:247598
Hepatic Veno-Occlusive Disease
Hepatomegaly, Abdominal pain, Elevated hepatic transaminase, Increased total bilirubin, Renal ins... ORPHA:890
Dent Disease 1
Glycosuria, Thin bony cortex, Proximal tubulopathy, Stage 5 chronic kidney disease, Renal phospha... OMIM:300009
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Splenomegaly, Hyperammonemia, Pyloric stenosis, Hypoglycemia ORPHA:664
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
High palate, Decreased liver function, Renal tubular dysfunction, Failure to thrive, Hepatomegaly... OMIM:220110
Mody
Exocrine pancreatic insufficiency, Glycosuria, Hepatocellular adenoma, Pancreatic hypoplasia, Lar... ORPHA:552
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Increased phosphoribosylpyrophosphate synthetase level, Crystalluria, Hyperuricosuria, Arthritis,... ORPHA:411536
Primary Fanconi Renotubular Syndrome
Hyperuricosuria, Glycosuria, Renal sodium wasting, Weight loss, Stage 5 chronic kidney disease, H... ORPHA:3337
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Argininosuccinic acidur... OMIM:603471
Glycogen Storage Disease Ib
Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Gout, Enlarged kidney, Proteinu... OMIM:232220
Proximal Renal Tubular Acidosis
Polydipsia, Mild postnatal growth retardation, Hyperuricosuria, Diarrhea, Glycosuria, Vomiting, G... ORPHA:47159
Neonatal Severe Primary Hyperparathyroidism
Recurrent fractures, Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyr... ORPHA:417
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Renal cortical cysts, Glycosuria, Vomiting, Neonatal death, Elevated circ... OMIM:231680
Propionic Acidemia
Failure to thrive, Hyperglycinuria, Pancreatitis, Hepatomegaly, Constipation, Hyperammonemia, Pro... OMIM:606054
Threoninemia
Growth delay, Hyperthreoninuria, Hyperthreoninemia OMIM:273770
Hyper-Beta-Alaninemia
Failure to thrive, Hyperbeta-alaninemia, Increased urinary taurine OMIM:237400
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Polydipsia, Hepatomegaly, Glycosuria, Hematuria, Proteinuria, ... OMIM:219800
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Failure to thrive, 3-Methylglutaconic aciduria, Hepatomegaly ORPHA:67046
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Hepatomegaly, Hyperammonemia, Renal insufficiency, Nausea and vomiting ORPHA:28
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... OMIM:251880
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Diarrhea, Vomiting, Increased circulating free fatty acid level, Proportionate short stature, Int... ORPHA:71212
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Renal tubular acidosis, Hyperammonemia, Hypoketotic hypoglycemia, Diarrhea, Elevate... OMIM:255120
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... OMIM:232700
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Nephrolithiasis, Growth delay, Hypophosphatemic rickets, Hypophosphatemia, Short stature, Reduced... ORPHA:157215
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Failure to thrive, Intrauterine growth retardation, Elevated hepatic tr... OMIM:617093
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Left ventricular hypertrophy, I... OMIM:619048
Tyrosinemia Type 1
Rickets of the lower limbs, Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular car... ORPHA:882
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hepatomegaly, 3-Methylglutaric aciduria, Vomiti... ORPHA:26791
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Increased phosphoribosylpyrophosphate synthetase level, Crystalluria, Hyperuricosuria, Gout, Arth... ORPHA:411543
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Gastroesophageal reflux, Hyperammonem... OMIM:201475
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Hereditary Xanthinuria
Aldehyde oxidase deficiency, Crystalluria, Rheumatoid arthritis, Recurrent urinary tract infectio... ORPHA:3467
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hyperammonemia, Hypoglycemia, Organic aciduria, Failu... ORPHA:6
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Intrauterine growth retardat... ORPHA:26792
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Gout, Elevated circulating creatini... ORPHA:79233
Distal Renal Tubular Acidosis
Polydipsia, Constipation, Decreased glomerular filtration rate, Diarrhea, Vomiting, Hypermagnesiu... ORPHA:18
Coproporphyria, Hereditary
Hepatomegaly, Constipation, Abdominal pain, Splenomegaly, Increased urinary porphobilinogen, Elev... OMIM:121300
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication ORPHA:147
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Hepatomegaly, Diarrhea, Elevated circulating aspartate aminotransferase concentratio... OMIM:608836
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Cystinosis
Renal tubular dysfunction, Failure to thrive, Malabsorption, Hypophosphatemia, Hypokalemia, Amino... ORPHA:213
Valinemia
Failure to thrive, Hypervalinemia, Vomiting, Valinuria OMIM:277100
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, 3-Methylglutaric aciduria, Hyperammonemia, Vomiting, Hypoglycemia, Organic aciduria... OMIM:246450
Familial Isolated Hyperparathyroidism
Abdominal symptom, Hypophosphatemia, Infantile hypercalcemia, Parathyroid adenoma, Elevated circu... ORPHA:99879
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Elevated circulating aspartate amin... OMIM:619868
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Failure to thrive, Hypocalcemia, Decreased response to growth hormone stimulatio... OMIM:606407
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Chronic kidney disease, Hepatomegaly, Decreased body weight, H... ORPHA:1667
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Failure to thrive, Hyperinsulinemia, Diarrhea, Vomiting, Hypoglycemia,... OMIM:606528
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Small for ge... ORPHA:324575
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Cog7-Cdg
Failure to thrive, Hepatomegaly, Feeding difficulties, Small for gestational age, Excessive wrink... ORPHA:79333
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Severe short stature, Elevated circulating creatinine concentration, Nephropathy, Decreased glome... OMIM:242530
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic... OMIM:617872
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, 3-hydroxydicarboxylic aciduria, Acute hepatic fai... OMIM:613070
Hyperprolinemia, Type Ii
Hydroxyprolinuria, Prolinuria, Hyperprolinemia, Hyperglycinuria OMIM:239510
Spermatogenic Failure 12
Azoospermia, Infertility OMIM:615413
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hyperammonemia, ... ORPHA:159
Mitochondrial Trifunctional Protein Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Feeding difficulties, Small ... OMIM:609015
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Acute hepatic failure, Hyper... ORPHA:99901
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Hyperammonemia, Vomiting, Hypoglycemia, Elevated hepatic transam... OMIM:212140
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Pancreatitis, Hepatomegaly, Feeding difficulties, Splenomegaly, Abdominal pain... ORPHA:79312
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Short stature, Glycosuri... OMIM:134600
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Abdominal pain, Splenomegaly, Reduced bone mineral density, Cirrhos... ORPHA:1414
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Pancreatitis, Hepatomegaly, Hyperammonemia, Methylmalonic aciduria, Vomiting, ... OMIM:251000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse panc... ORPHA:276575
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hyperammonemia, Short stature, Elevated circulating creatine kinase concentration, Hypoglycemia, ... OMIM:618120
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Hereditary Coproporphyria
Dark urine, Extension of hair growth on temples to lateral eyebrow, Abdominal pain, Facial hirsut... ORPHA:79273
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Severe short stature, Aminoaciduria ORPHA:2278
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse panc... ORPHA:276580
Harderoporphyria
Increased circulating ferritin concentration, Prolonged neonatal jaundice, Hepatomegaly, Splenome... OMIM:618892
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Failure to thrive, Cystinuria, Polyphagia, Growth delay ORPHA:163690
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse pancreatic islet hyper... ORPHA:276556
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Flexion contracture, Hyperammonemia, Abnormality of the kidney, Hypospadias, Campto... ORPHA:1194
Lcat Deficiency
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... ORPHA:650
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Osteopenia, Osteoporosis, Hypercalciu... OMIM:612286
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Diarrhea, Increased sarcoplasmic glycogen, Vomiting, Cholestasis, Hepatocellular ad... ORPHA:370
Mccune-Albright Syndrome
Pancreatitis, Abnormal endocrine physiology, Benign gastrointestinal tract tumors, Ovarian cyst, ... ORPHA:562
Dubin-Johnson Syndrome
Abnormal urinary color, Abnormal gastric mucosa morphology, Hepatomegaly, Abdominal pain, Biliary... ORPHA:234
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Alopecia, Glycosuria, Abnormalit... ORPHA:2298
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Small for gestational age, Poor suck, Hyperammonemia, Increased serum p... OMIM:615160
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... OMIM:601198
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Diarrhea, Increased sarcoplasmic glycogen, Vomiting, Cholestasis, Hepatocellular ad... ORPHA:264580
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Reduced carnitin... ORPHA:228308
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, E... OMIM:212138
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Failure to thrive, Cholestatic liver disease, Giant cell hepatitis, Renal tubular acidosis, Renal... OMIM:208085
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Growth delay, Hyperlipidemia, Hepatomegaly, Abdominal distention, Short statur... ORPHA:369
Isolated Polycystic Liver Disease
Hepatomegaly, Gastroesophageal reflux, Abdominal pain, Abdominal distention, Polycystic liver dis... ORPHA:2924
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Episodic abdominal pain, Hepatic ... ORPHA:228305
Phosphoribosylpyrophosphate Synthetase Superactivity
High palate, Increased phosphoribosylpyrophosphate synthetase level, Sparse hair, Small for gesta... OMIM:300661
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormality o... ORPHA:2843
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Ketonuria, Acute hyperammonemia, Hyperglycinuria, Feeding difficulties, Alopec... OMIM:210210
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... OMIM:616963
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Pancreatitis, Hepatomegaly, Hyperammonemia, Renal insufficiency, Growt... ORPHA:289916
Hydroxykynureninuria
Vomiting, Jaundice, Aminoaciduria OMIM:236800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Gout, Renal ... OMIM:162000
Oligomeganephronia
Polydipsia, Renal tubular atrophy, Decreased glomerular filtration rate, Congenital diaphragmatic... ORPHA:2260
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Juvenile Nephropathic Cystinosis
Polydipsia, Glycosuria, Vomiting, Elevated circulating creatinine concentration, Proteinuria, Pro... ORPHA:411634
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Osteopenia, Osteoporosis, Increased s... OMIM:612287
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Diarrhea, Vomiting, Hepatocellular adenoma, Polycystic ovaries, Increased body weig... ORPHA:79240
5-Oxoprolinase Deficiency
Prolinuria, Reduced 5-oxoprolinase level, Enterocolitis, Abdominal pain, Calcium oxalate nephroli... OMIM:260005
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Ab... ORPHA:280356
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Failure to thrive, Polydipsia, Hypophosphatemia, Constipation, Aminoac... ORPHA:411629
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Generalized hirsutism, Aminoaciduria, Short stature, Cachexia, Methylmalonic aciduria, Elevated c... ORPHA:1933
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... ORPHA:79084
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, Aminoaciduria, EMG: myopathic abnormalities, Elevated circulating creatine kinas... OMIM:609560
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... ORPHA:247585
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria, Hyperhomocystinemia OMIM:236250
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71526
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Retinitis Pigmentosa 59
Failure to thrive, Hepatomegaly, Feeding difficulties, Micropenis, Elevated hepatic transaminase,... OMIM:613861
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Facial diplegia, Failure to thrive, Aminoaciduria, Methylmalonic aciduria, Elevated circulating c... OMIM:612073
Hyperuricemia, Hprt-Related
Nephrolithiasis, Hyperuricosuria, Renal insufficiency, Hyperuricemia, Podagra OMIM:300323
Autosomal Dominant Hypophosphatemic Rickets
Growth delay, Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hypocalc... ORPHA:89937
Infantile Sialic Acid Storage Disease
High palate, Failure to thrive, Nephrotic syndrome, Hepatomegaly, Fair hair, Splenomegaly, Osteop... OMIM:269920
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Hypoglycemia, Abnormal... ORPHA:446
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Acquired Partial Lipodystrophy
Generalized hirsutism, Lipoatrophy, Progeroid facial appearance, Insulin resistance, Microscopic ... ORPHA:79087
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Aminoaciduria, Feeding difficulties, Cachexia, Diarrhea, Vomiting, Proximal tu... OMIM:612075
Galactokinase Deficiency
Increased level of galactitol in urine, Failure to thrive, Hyperinsulinemia, Hepatomegaly, Abnorm... ORPHA:79237
Dibasic Amino Aciduria I
Argininuria, Malabsorption, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria OMIM:222690
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Acute hyperammonemi... OMIM:210200
Nephronophthisis-Like Nephropathy 2
Polydipsia, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Ren... OMIM:619468
Interstitial Lung And Liver Disease
Failure to thrive, Hepatomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia, Cirrhosis, Eleva... OMIM:615486
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Short stature,... OMIM:613312
Multiple Carboxylase Deficiency
Abnormal enzyme/coenzyme activity, Feeding difficulties, Alopecia, Hyperammonemia, Organic acidur... ORPHA:148
Hyperprolinemia, Type I
Hydroxyprolinuria, Prolinuria, Hyperprolinemia, Hyperglycinuria OMIM:239500
Variegate Porphyria
Constipation, Abdominal pain, Increased urinary porphobilinogen, Elevated urinary delta-aminolevu... OMIM:176200
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Intrauterine growth retardation, Microvesicular hepatic steatosis, Hepatic fai... OMIM:617156
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Jaundice, Aminoaciduria, Myopathy ORPHA:33574
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Hepatomegaly, Aminoaciduria, Flexion contracture, Poor suck, Camptodactyly, Re... OMIM:604273
Glucose/Galactose Malabsorption
Failure to thrive, Malabsorption, Abdominal distention, Glycosuria, Abnormal oral glucose toleran... OMIM:606824
Lesch-Nyhan Syndrome
Nephrolithiasis, Short stature, Hyperuricosuria, Vomiting, Hyperuricemia, Dysphagia, Podagra OMIM:300322
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hip contracture, Hypophosphatemia, Elevated circulating alkaline phosphatase ... OMIM:156400
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Cirrhosis, Primary amenorrhea, Maternal diabetes, Ol... OMIM:604367
Glycogen Storage Disease Ic
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Decreased glomerular filtrati... OMIM:232240
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Decreased liver function, Failure to thrive, 3-Methylglutaconic aciduria ORPHA:67048
Hypertryptophanemia
Generalized joint laxity, Camptodactyly of finger, Limited elbow extension, Hypertryptophanemia, ... OMIM:600627
Familial Renal Glucosuria
Renal tubular dysfunction, Moderate postnatal growth retardation, Recurrent urinary tract infecti... ORPHA:69076
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Growth delay, Hyperlysinuria OMIM:247950
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... OMIM:618913
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Ketonuria, Hepatomegaly, Hyperammonemia, Methylmalonic aciduria, Vomiting, Fee... OMIM:251110
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Asymptomatic hy... ORPHA:35878
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Glycosuria, Gout, Biliary tract abnormality, Pancreatic hypopl... OMIM:137920
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Glycosuria, Median... ORPHA:699
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Orotic Aciduria
Failure to thrive, Oroticaciduria, Hematuria, Reduced orotidine 5-prime phosphate decarboxylase l... OMIM:258900
Hereditary Orotic Aciduria
Oroticaciduria, Aminoaciduria, Splenomegaly, Abnormality of the ureter, Orotic acid crystalluria ORPHA:30
Hartnup Disorder
Glossitis, Cutaneous photosensitivity, Neutral hyperaminoaciduria, Short stature OMIM:234500
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Elevated hepatic... OMIM:610717
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly, Feeding difficulties in infancy, Renal cyst, Epiphyseal s... OMIM:614870
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium... OMIM:613090
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Oligospermia, Insulin resistance, Azoospermia, Hepatic st... OMIM:615703
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Renal tubular dysfunction, Failure to thrive, Hypophosphatemic rickets, ... OMIM:241530
Camptodactyly 1
Camptodactyly of finger, Increased urinary taurine OMIM:114200
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Chronic kidney disease, Hypomagnesemia, Feeding difficulties, Type 2 muscle fi... OMIM:613845
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Osteomesopyknosis
Infertility OMIM:166450
Stimmler Syndrome
Type II diabetes mellitus, Aminoaciduria, Short stature, Intrauterine growth retardation, Abnorma... ORPHA:3199
Renal Glucosuria
Polydipsia, Polyuria, Glycosuria, Polyphagia, Enuresis nocturna OMIM:233100
Hawkinsinuria
Failure to thrive, 4-Hydroxyphenylpyruvic aciduria, Abnormal circulating tyrosine concentration, ... ORPHA:2118
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Ketonuria, Hepatomegaly, Hyperammonemia, Methylmalonic aciduria, Vomiting, Fee... OMIM:251100
Molybdenum Cofactor Deficiency, Complementation Group A
Growth delay, Aldehyde oxidase deficiency, Increased urinary taurine, Molybdenum cofactor deficie... OMIM:252150
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... OMIM:616828
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Hypercalcemia, Infantile, 1
Nephrolithiasis, Failure to thrive, Polyuria, Vomiting, Hypercalciuria, Infantile hypercalcemia, ... OMIM:143880
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Galactosemia
Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Feeding difficulties, Hepatic... ORPHA:352
Type 1 Diabetes Mellitus
Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Polyuria, Polyphagia, Diabetes melli... OMIM:222100
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy, Severe short stature, Aminoaciduria, Osteoporosis OMIM:204730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Hepatomegaly, Hepatic failure, Low plasma citrulline, Cyanosis, Hypoglycemia, Renal st... OMIM:261680
Primary Hyperoxaluria Type 1
Nephrolithiasis, Dysuria, Failure to thrive, Decreased glomerular filtration rate, Recurrent urin... ORPHA:93598
Malaria
Nausea and vomiting, Elevated circulating C-reactive protein concentration, Acute kidney injury, ... ORPHA:673
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Glycosuria, Delayed social development, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Seckel Syndrome 10
Glucose intolerance, Severe short stature, Elevated hemoglobin A1c, Elevated circulating luteiniz... OMIM:617253
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Feeding difficulties, Elevated circulating creatine kinase concentration, Organic aciduria, Fatty... OMIM:255100
Tiglic Acidemia
Episodic abdominal pain, Aminoaciduria OMIM:275190
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Feeding difficulties, Hyperammonemia, Hypoglycemia, 3-Methylglutaconic aciduria OMIM:614739
Hyperlysinemia
High palate, Argininuria, Failure to thrive, Hyperlysinemia, Gastroesophageal reflux, Cystinuria,... ORPHA:2203
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Abnormality of the ... ORPHA:99886
Glutamate Formiminotransferase Deficiency
Growth delay, Aminoaciduria, Positive ferric chloride test OMIM:229100
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Failure to thrive, Short stature, Methylmalonic aciduria, Homocystinuria, Methylmalonic acidemia OMIM:309541
Holocarboxylase Synthetase Deficiency
Alopecia, Anorexia, Hyperammonemia, Organic aciduria, Weight loss, Growth delay, Nausea and vomiting ORPHA:79242
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Failure to thrive, Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, ... OMIM:602522
Camptodactyly-Taurinuria Syndrome
Camptodactyly of toe, Camptodactyly of finger, Increased urinary taurine, Aminoaciduria ORPHA:1325
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... OMIM:606762
Hypophosphatemic Rickets
Elevated circulating alkaline phosphatase concentration, Elevated circulating parathyroid hormone... ORPHA:437
Ichthyosis, Split Hairs, And Amino Aciduria
Abnormal hair morphology, Aminoaciduria OMIM:242550
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Isolated Biliary Atresia
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Fat malabsorp... ORPHA:30391
Hypouricemia, Renal, 1
Hyperuricosuria, Uric acid nephrolithiasis, Acute kidney injury, Renal tubular epithelial necrosi... OMIM:220150
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Hypertrichosis, Increased fecal porphyrin, Decrease... ORPHA:101330
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Gout, Hepatic cysts, Renal insufficiency, Stage 5 chronic k... OMIM:618061
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ... OMIM:616829
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Growth delay, Malabsorption, Abnormality of renal excretion, Hypophospha... ORPHA:289176
3-Hydroxyisobutyric Aciduria
Failure to thrive, Aminoaciduria OMIM:236795
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Hepatomegaly, Hyperammonemia, Renal insufficiency, Nausea and vomiting ORPHA:27
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Elevated circulating alkalin... OMIM:193100
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Failure to thrive, Ketonuria, Lower-limb joint contracture, Abnormalit... ORPHA:99885
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Hepatomegaly, Polyuria, Diarrhea, Vomiting, Osteoporosis, Type I diabetes mell... OMIM:560000
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Cyanosis, Tubul... ORPHA:488627
Beta-Ketothiolase Deficiency
Ketonuria, Hepatomegaly, Oral aversion, Hyperammonemia, Anorexia, Diarrhea, Vomiting, Hypoglycemi... ORPHA:134
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Failure to thrive, Jaundice, Frontal hirsutism OMIM:129850
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:600649
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Failure to thrive, Hyperbilirubinemia, Cholestasis, Hypermethioninemia,... OMIM:614300
Cystic Echinococcosis
Abnormality of the testis size, Urticaria, Hepatomegaly, Elevated circulating alkaline phosphatas... ORPHA:400
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures OMIM:256450
Alg1-Cdg
Decreased liver function, Nephrotic syndrome, Abnormality of the kidney, Abnormality of the gastr... ORPHA:79327
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Lipid accumulation in hepatocytes, Hepatomegaly, 3-Methylglutaric aciduria, Hyperammon... ORPHA:20
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Pauci-Immune Glomerulonephritis
Pancreatitis, Decreased glomerular filtration rate, Nephrotic range proteinuria, Abdominal pain, ... ORPHA:93126
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Failure to thrive, Hypomethioninemia, Homocystinuria, Hyperhomocystinemia, Feeding difficulties i... OMIM:250940
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentratio... OMIM:614727
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility OMIM:300719
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Glycogen Storage Disease Xii
Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Short stature, Hemoglobinuria, El... OMIM:611881
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Abnormal enzyme/coenzyme activity, Hyperamm... ORPHA:391428
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Short stature, Reduce... ORPHA:172
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Hemochromatosis, Type 4
Glucose intolerance, Impotence, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mel... OMIM:606069
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Foot dorsiflexor weakness, Distal amyotrophy, Elevated hepatic transaminase, Mildly elevated crea... OMIM:618400
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Failure to thrive, Renal tubular ... OMIM:248250
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Steatorrhea, Hepatic failure, Cir... OMIM:602579
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Majeed Syndrome
Failure to thrive, Malabsorption, Osteomyelitis, Hepatomegaly, Increased bone mineral density, Fl... ORPHA:77297
Ddost-Cdg
Failure to thrive, Gastroesophageal reflux, Constipation, Nephrotic range proteinuria, Short stat... ORPHA:300536
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Diarrhea, Hematuria, Vomiting, Hyperkalemia, Elevat... ORPHA:340
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Constipation, Aminoaciduria, Joint contracture of the hand, Short stature, Joi... OMIM:309000
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Glycogen Storage Disease Vii
Cholelithiasis, Increased muscle glycogen content, Gout, Increased total bilirubin, Hyperuricemia... OMIM:232800
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Lower limb musc... OMIM:617950
Preeclampsia
Abnormality of the hepatic vasculature, Chronic kidney disease, Abdominal pain, Small for gestati... ORPHA:275555
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Intrauterine growth retardation, Ketonuria, 3-... OMIM:619355
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic ... OMIM:607765
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Short stature, Truncal obesity... ORPHA:181393
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Methylmalonic aciduria, Methylmalonic acidemia, Hyperhomocystinemia OMIM:613646
Leber Congenital Amaurosis 1
Growth delay, Hyperthreoninuria, Hepatomegaly, Hyperthreoninemia OMIM:204000
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... OMIM:301045
Gitelman Syndrome
Failure to thrive, Hypomagnesemia, Hypokalemia, Constipation, Polydipsia, Abdominal pain, Chondro... OMIM:263800
Lysosomal Acid Lipase Deficiency
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Steatorrhea, Diarrhea, ... ORPHA:275761
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Elevated circulating creatine kinase concentration, Carnosinuria OMIM:309930
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Hypergonadotropic hypogonadism, Diarrhea, Vomiting, Weight loss, Ga... ORPHA:298
Sulfite Oxidase Deficiency, Isolated
Episodic vomiting, Elevated circulating creatine kinase concentration, Decreased urinary sulfate,... OMIM:272300
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention, Elevated circulating alkaline phosphatase concentration, Polycystic liver d... OMIM:174050
Osteootohepatoenteric Syndrome
Failure to thrive, Recurrent fractures, Hypokalemia, Microvesicular hepatic steatosis, Grade II v... OMIM:619377
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Renal tubular dysfunction, Decreased body weight, Hyperbilirubinemia, Elevated ci... OMIM:614886
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Fumarase Deficiency
High palate, Reduced subcutaneous adipose tissue, Failure to thrive, Aminoaciduria, Hyperbilirubi... OMIM:606812
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Jaundice, Cleft palate, Aminoac... OMIM:214110
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Renal tubular dysfunction, Glucose intolerance, Malabsorption, Exocrine pancreatic insufficiency,... OMIM:616539
Iminoglycinuria
Hydroxyprolinuria, Prolinuria, Hyperglycinuria OMIM:242600
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Iminoglycinuria
Hydroxyprolinuria, Prolinuria, Hyperglycinuria ORPHA:42062
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... OMIM:608600
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hepatic failure, Hyperammonemia, Cirrhosis, Elevated alpha-fetoprotein, Elevat... OMIM:617049
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Diabetes mellitus, Insulin re... OMIM:612526
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Ketonuria, Hyperammonemia, EMG: myopathic abnor... ORPHA:480864
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, 3-Methylglutaric aciduria, Hepatic failure, Stea... OMIM:557000
Hsd10 Disease
Abnormal urinary acylglycine profile, Elevated urinary 3-hydroxybutyric acid, Nasogastric tube fe... ORPHA:391417
Hyperprolactinemia
Infertility, Oligomenorrhea, Menorrhagia OMIM:615555
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Irregular menstruation, Decreased serum leptin, Decreased ad... OMIM:615238
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Aminoaciduria, Bri... OMIM:124000
Oncogenic Osteomalacia
Renal phosphate wasting, Hypophosphatemia, Elevated circulating alkaline phosphatase concentratio... ORPHA:352540
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Increased blood urea nitrogen, Short stature, Craniosynostosis, Macroscopic ... ORPHA:251004
Tyrosinemia, Type I
Melena, Hepatomegaly, Hepatic failure, Enlarged kidney, Hypermethioninemia, Gastrointestinal hemo... OMIM:276700
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Failure to thrive, Hypomethioninemia, Homocystinuria, Hyperhomocystinemia, Decreased methionine s... OMIM:236270
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemic rickets, Hypop... OMIM:300554
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Episodic abdomina... ORPHA:157
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Retinohepatoendocrinologic Syndrome
Maturity-onset diabetes of the young, Infertility, Degenerative liver disease, Hypothyroidism OMIM:268040
Oculoskeletodental Syndrome
Low anterior hairline, Hepatomegaly, Hypocalcemia, Macroglossia, Splenomegaly, Renal agenesis, Sm... OMIM:618440
Splenoportal Vascular Anomalies
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous ... OMIM:271500
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Combined Oxidative Phosphorylation Deficiency 30
Decreased liver function, Failure to thrive, Gastroesophageal reflux, Feeding difficulties, Left ... OMIM:616974
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Ketonuria, Hyperammonemia, Premature thelarche,... OMIM:616878
Methionine Malabsorption Syndrome
Diarrhea, Aminoaciduria, White hair, Positive ferric chloride test OMIM:250900
Carnosinemia
Carnosinuria OMIM:212200
2P21 Microdeletion Syndrome
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Hypoglycemia, Long eyelashes, Hypog... ORPHA:163693
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Renal tubular acidosis, Hepatic failure, Hypoglycemia, Elevated hepatic transaminas... ORPHA:156
Hyperprolinemia Type 2
Prolinuria, Hydroxyprolinuria, Increased urine alpha-ketoglutarate concentration, Abnormal enzyme... ORPHA:79101
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abdominal pain, Abnormal circulating lipid co... ORPHA:567548
Secondary Short Bowel Syndrome
Constipation, Steatorrhea, Small intestinal dysmotility, Diarrhea, Vomiting, Cholestasis, Weight ... ORPHA:95427
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Phenylketonuria
Fair hair, Maternal hyperphenylalaninemia, Hyperphenylalaninemia, Reduced phenylalanine hydroxyla... OMIM:261600
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Hepatomegaly, Vomiting, Hypoglycemia, Elevated hepatic transaminase, Decreased p... OMIM:201450
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Failure to thrive, Hepatomegaly, Abdominal distention, Diarrhea, Vomiti... OMIM:608104
Cystathioninuria
Nephrolithiasis, Cystathioninemia, Cystathioninuria ORPHA:212
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... OMIM:262400
Relapsing Fever
Elevated circulating C-reactive protein concentration, Abdominal pain, Abnormality of the urinary... ORPHA:91547
Pyruvate Carboxylase Deficiency
Failure to thrive, Neonatal hyperbilirubinemia, Hyperlysinemia, Hepatomegaly, Hyperammonemia, Ano... ORPHA:3008
Senior-Boichis Syndrome
Polydipsia, Elevated circulating alkaline phosphatase concentration, Reduced number of intrahepat... ORPHA:84081
Schimmelpenning-Feuerstein-Mims Syndrome
Growth delay, Hypophosphatemic rickets, Recurrent fractures, Short stature, Alopecia, Osteopenia,... OMIM:163200
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria, Failure to thrive OMIM:612718
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria OMIM:204750
Aredyld Syndrome
Craniofacial hyperostosis, Type II diabetes mellitus, Hepatomegaly, Lipoatrophy, Splenomegaly, Sp... ORPHA:1133
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Diabetic ketoacidosis, Long pen... OMIM:262190
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Steatorrhea, Diarrhea, Elevated circulating aspartate aminotransfe... OMIM:278000
Congenital Disorder Of Glycosylation, Type Iie
Decreased liver function, Hypertrichosis, Low anterior hairline, Hepatomegaly, Gastroesophageal r... OMIM:608779
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal... ORPHA:79234
Mercaptolactate-Cysteine Disulfiduria
High palate, High, narrow palate, Aminoaciduria OMIM:249650
Myasthenia Gravis
Hyperthyroidism, Rheumatoid arthritis, Glycosuria, Myositis, Primary adrenal insufficiency, Hepat... ORPHA:589
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Babesiosis
Hepatomegaly, Splenomegaly, Hepatic failure, Anorexia, Hyperhidrosis, Renal insufficiency, Nausea... ORPHA:108
Atypical Werner Syndrome
Telangiectasia of the skin, Hyperinsulinemia, Ovarian neoplasm, Progeroid facial appearance, Alop... ORPHA:79474
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Acute hyperammonemia, Hepatomegaly, Feeding difficulties, Hyperammonemia, Diar... ORPHA:927
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency ORPHA:436182
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... ORPHA:53035
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Umbilical her... OMIM:608594
Temple Syndrome
High palate, Intrauterine growth retardation, Joint hypermobility, Cleft palate, Flexion contract... OMIM:616222
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Failure to thrive, Recurrent fractures, Elevated circulating alkaline phosphat... OMIM:239000
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Liver Disease, Severe Congenital
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Increased circulating fer... OMIM:619991
Beta-Thalassemia Intermedia
Cholelithiasis, Hepatomegaly, Osteopenia, Abnormality of iron homeostasis, Hypogonadism, Proximal... ORPHA:231222
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Hyperprolinemia, Neonatal death, Lacticaciduria, Intraute... OMIM:619003
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hepatomegaly, Abnormal enzyme/coenzyme activity, Diarrhea, Increased... ORPHA:348
Hypercholanemia, Familial, 2
Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration, Prolonged n... OMIM:619256
Alpha-1-Antitrypsin Deficiency
Nephrotic syndrome, Hepatomegaly, Hepatic failure, Hepatitis, Jaundice ORPHA:60
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Feeding difficulties, Elevated circulating aspartate aminotransferase concent... OMIM:619685
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Biliary tr... ORPHA:79301
Dicarboxylic Aminoaciduria
Nephrolithiasis, Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria OMIM:222730
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated circulating gamma-aminobutyric acid concentration, Elevated urinary 4-hydroxybutyric aci... OMIM:271980
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Biotinidase Deficiency
Hepatomegaly, Alopecia, Splenomegaly, Hyperammonemia, Diarrhea, Vomiting, Organic aciduria, Feedi... OMIM:253260
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Vomiting, Cholestasis, Bladder exstroph... OMIM:301068
Galactose Mutarotase Deficiency
Decreased liver function, Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hyp... ORPHA:570422
Xfe Progeroid Syndrome
Corneal scarring, Failure to thrive, Prematurely aged appearance, Severe short stature, Cachexia,... OMIM:610965
Mpi-Cdg
Decreased liver function, Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Abnorma... ORPHA:79319
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Temple Syndrome
Type II diabetes mellitus, Postnatal growth retardation, Decreased response to growth hormone sti... ORPHA:254516
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Cholestasis-Lymphedema Syndrome
Malabsorption, Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentrat... OMIM:214900
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Osteoporosis, Osteolysis, Weigh... ORPHA:100024
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Failure to thrive, Feeding difficulties, Macrovesicular hepatic steatos... OMIM:618329
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Hypokalemia, Vomiting, Hypercalciuria, Distal renal tubular acidosis, Growth d... OMIM:602722
Urocanase Deficiency
Urocanic aciduria, Fair hair, Short stature OMIM:276880
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Insuli... ORPHA:79085
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Umbilical her... OMIM:269700
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Constipation, Renal juxtaglomerular... OMIM:601678
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, 3-Methylglutaric aciduria, Hypospadias, Glutaric aciduria, Decr... OMIM:610198
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Glossoptosis, Elevated circulating aspartate aminotransferase concentration, Feedin... OMIM:614876
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Polydipsia, Short stature, Polyuria, Hypocalciuria, Salt craving, In... OMIM:612780
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Eleva... OMIM:214950
Homocarnosinosis
Carnosinuria OMIM:236130
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hyperammonemia, Short stature, Cholestasis, El... OMIM:618641
Porphyria Due To Ala Dehydratase Deficiency
Constipation, Abdominal distention, Abdominal pain, Abnormal enzyme/coenzyme activity, Increased ... ORPHA:100924
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Hepatomegaly, Feeding difficulties, Elevated circulating aspartate aminotransf... OMIM:614582
Primary Pigmented Nodular Adrenocortical Disease
Alopecia, Increased body weight, Dorsocervical fat pad, Abnormal subcutaneous fat tissue distribu... ORPHA:189439
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Micropenis, Craniosynostosis, Hypospadias,... OMIM:614732
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... OMIM:605814
Citrullinemia Type I
Torticollis, Failure to thrive, Gastroesophageal reflux, Feeding difficulties, Hepatic failure, H... ORPHA:247525
Encephalopathy Due To Sulfite Oxidase Deficiency
Feeding difficulties in infancy, Nausea and vomiting, Aminoaciduria ORPHA:833
Glycine Encephalopathy
Hyperglycinemia, Hyperglycinuria OMIM:605899
Porphyria Variegata
Ileus, Chronic kidney disease, Hypertrichosis, Constipation, Abnormal enzyme/coenzyme activity, A... ORPHA:79473
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
High palate, Failure to thrive, Methioninuria, Pancreatitis, Brittle hair, Inguinal hernia, Cutis... OMIM:236200
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Abdominal distention, Feeding difficulties, Hepatic failure, Cholestasis, Elevated ... OMIM:618528
3-Methylglutaconic Aciduria, Type Iii
3-Methylglutaconic aciduria, 3-Methylglutaric aciduria OMIM:258501
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Odynophagia, Episodic abdominal pain, Increased blood urea nitrogen, Hemo... ORPHA:447
Acquired Generalized Lipodystrophy
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Progeroid facial appearance, Abnormal circ... ORPHA:79086
Congenital Generalized Lipodystrophy
Hypertrichosis, Hyperinsulinemia, Hepatomegaly, Bone cyst, Lipodystrophy, Polycystic ovaries, Pre... ORPHA:528
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Weight loss, Intrauterine grow... OMIM:619487
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Failure to thrive, Hyperornithinemia, Hepatomegaly, Hyperammonemia, Epi... OMIM:238970
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Pyloric stenosis, Horseshoe kidney, Hyperuricemia, Jaundice, Aplasia/Hypoplasia of th... ORPHA:93111
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Polydipsia, Constipation, Short stature, Polyuria, Vomiting, Hypernatremia, Fe... OMIM:125800
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, H... OMIM:616278
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Cataract 47
Glycosuria OMIM:612018
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Polydipsia, Constipation, Short stature, Polyuria, Vomiting, Hypernatremia, Fe... OMIM:304800
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hyperbi... OMIM:235555
Phenylketonuria
Aminoaciduria ORPHA:716
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Osteopenia, Cholestasis, Chronic ... ORPHA:171
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hepatomegaly, Feeding difficulties, Small for gestational age, Hypoproteinemia, Hyp...