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Gene: Aqp7 MGI:1314647

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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:
aquaporin 7
Synonyms:
AQPap,  AQP7L

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 Aqp7 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Aqp7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Danubian Endemic Familial Nephropathy
Nephropathy OMIM:124100
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Uridine-Cytidineuria
Elevated urinary uridine level, Elevated urinary cytidine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Familial Renal Glucosuria
Nephropathy, Glycosuria, Renal tubular dysfunction, Recurrent urinary tract infections ORPHA:69076
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Cataract 47
Glycosuria OMIM:612018
Hutterite Cerebroosteonephrodysplasia Syndrome
Nephrotic syndrome OMIM:236450
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
Renal Glucosuria
Enuresis nocturna, Glycosuria, Polyuria OMIM:233100
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
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
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia OMIM:232700
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia OMIM:615605
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... OMIM:619263
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Hypoketotic hypoglycemia, Neonatal hypoglycemia, Nonketotic hypoglycemia ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid OMIM:206400
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Ketonuria, Glycosuria OMIM:618857
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Variegate Porphyria
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Porphyrinuria OMIM:176200
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... ORPHA:79084
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Glycosuria OMIM:606824
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Nail-Patella-Like Renal Disease
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria ORPHA:2613
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria OMIM:161900
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Uric a... ORPHA:411536
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Ketonuria, Glycosuria ORPHA:2089
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Hematuria, Benign Familial, 1
Hematuria, Thin glomerular basement membrane OMIM:141200
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276575
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... OMIM:614131
Hypersulfaturia
Increased urinary sulfate, Nephrolithiasis OMIM:620372
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Nephrolithiasis OMIM:300323
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypoglycemia, Hyperphosphaturia, Proteinuria, Diabet... OMIM:616026
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Hypertriglyceridemia, Polycystic ovaries, ... ORPHA:280356
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Mody
Nephropathy, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance,... ORPHA:552
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria OMIM:620320
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria ORPHA:42062
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin ... ORPHA:324575
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Postprandial hyperglycemia, Glycosuria,... ORPHA:2088
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Hypoglyce... ORPHA:3337
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Dicarboxylic Aminoaciduria
Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis OMIM:222730
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Cholestasis, Hyperi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Cholestasis, Hyperi... ORPHA:71526
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Proteinuria OMIM:613404
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Nephrotic syndrome ORPHA:69061
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Porphyria, Acute Hepatic
Elevated urinary delta-aminolevulinic acid OMIM:612740
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts OMIM:609886
Nephronophthisis
Renal insufficiency ORPHA:655
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Excessive in... ORPHA:276556
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:615573
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Hypercholesterolemia, Hypoglycemia OMIM:620211
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:600995
Perlman Syndrome
Hepatomegaly, Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology ORPHA:2849
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Proteinuria, Renal Fanconi syndrome, Hype... ORPHA:263455
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hypoglycemia, Ren... OMIM:231680
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Renal insufficiency, Hyperuricosuria, Macroscopic hematuria, Ur... ORPHA:79233
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Elevated urinary delta-aminolevulinic acid, Increased urin... OMIM:121300
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobuli... OMIM:227810
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Maturity-onset diabetes of the young, St... OMIM:137920
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia ORPHA:364
Glucocorticoid Deficiency 3
Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:609197
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia ORPHA:71529
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:610725
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... ORPHA:436271
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology ORPHA:839
Medullary Sponge Kidney
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis ORPHA:1309
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... ORPHA:84090
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Renal tubular ... OMIM:162000
3-Methylglutaconic Aciduria Type 1
Hypoglycemia ORPHA:67046
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina... ORPHA:3467
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... ORPHA:47159
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Denys-Drash Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma ORPHA:220
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,... ORPHA:411634
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... OMIM:220110
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis OMIM:260000
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis OMIM:620374
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar... OMIM:615363
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Polycysti... ORPHA:3085
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hepatom... ORPHA:363400
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... ORPHA:411629
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Nephritis, Insulin resistance, Glycosuria, Insulin-resistant diabetes... ORPHA:2298
Xanthinuria, Type Ii
Increased urinary hypoxanthine level, Xanthinuria, Renal insufficiency, Nephrolithiasis OMIM:603592
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Diabetes ... OMIM:167800
Acth Deficiency, Isolated
Decreased circulating cortisol level, Fasting hypoglycemia OMIM:201400
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Diabetes mellitus, Pancrea... OMIM:615935
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Glycogen Storage Disease Iii
Hyperlipidemia, Hypoglycemia OMIM:232400
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Hepatomegaly, Hypergona... ORPHA:79237
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Hyperg... ORPHA:99885
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:616033
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia ORPHA:171706
Donohue Syndrome
Precocious puberty, Hepatic fibrosis, Postprandial hyperglycemia, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Fructose Intolerance, Hereditary
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Hypoglycemia, Hyperphosphaturia, Hyper... OMIM:229600
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology OMIM:123550
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Hepatic steatosis, Polycysti... ORPHA:528
Hereditary Coproporphyria
Nephropathy, Dark urine, Increased urinary porphobilinogen, Porphyrinuria, Elevated urinary delta... ORPHA:79273
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Renal insufficiency, Hyperuricosuria, Uric acid nephrolithiasis, Crystalluria ORPHA:411543
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Hypoglycemia OMIM:201910
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Hyperuricemic Nephropathy, Familial Juvenile, 3
Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating ability OMIM:614227
Seckel Syndrome 10
Insulin resistance, Glycosuria, Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance OMIM:617253
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Pol... ORPHA:79086
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Medullary... OMIM:219800
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Decreased circulating cortisol level, Neonatal hypoglycemia ORPHA:199296
Glycogen Storage Disease Ixc
Hypoglycemia, Fasting hypoglycemia, Hypertriglyceridemia OMIM:613027
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia, Decreased circulating cortisol level OMIM:600955
Mpi-Cdg
Hepatic fibrosis, Portal hypertension, Hypothyroidism, Hyperinsulinemic hypoglycemia, Hepatomegaly ORPHA:79319
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... ORPHA:785
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Diarrhea 13
Recurrent hypoglycemia OMIM:620357
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Hypoglycemia ORPHA:369
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Propionic Acidemia
Hypoglycemia ORPHA:35
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:136680
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Glucose intolerance, Glycosuria, Renal tubular dysfunction OMIM:616539
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:214
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatomegaly, Steatorrhea OMIM:602579
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia OMIM:615962
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Decreased glomerular filtration rate, Stage 5 chronic kidney disease... OMIM:618061
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Hypoglycemia ORPHA:156
Myasthenia Gravis
Glycosuria ORPHA:589
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia OMIM:614741
3-Methylglutaconic Aciduria Type 4
Hypoglycemia ORPHA:67048
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Mehmo Syndrome
Hypoglycemia OMIM:300148
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Glycosuria, Renal insufficiency, Proteinuria, Renal ... ORPHA:447
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Tropical Calcific Pancreatitis
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... OMIM:608189
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:71212
Laron Syndrome
Hypercholesterolemia, Hypoglycemia ORPHA:633
Molybdenum Cofactor Deficiency, Type A
Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine level, Decreas... OMIM:252150
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Hypoglycemia, Recurrent hypoglycemia OMIM:607398
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:202200
Wilson Disease
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Nephrolithiasis, Protein... OMIM:277900
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... OMIM:260370
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia OMIM:246900
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... ORPHA:2457
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia OMIM:614736
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:26792
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia OMIM:619048
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia OMIM:620137
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
2P21 Microdeletion Syndrome
Hypoglycemia ORPHA:163693
Senior-Loken Syndrome 1
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati... OMIM:266900
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Cirrhosis, Hypertriglyceri... OMIM:608594
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia OMIM:617872
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia ORPHA:289504
Hemochromatosis, Neonatal
Hypoglycemia OMIM:231100
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia OMIM:618839
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia ORPHA:48431
Pearson Syndrome
Glycosuria, Renal insufficiency, Proteinuria, Renal cyst, Lacticaciduria, Diabetes mellitus ORPHA:699
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Hepa... OMIM:613327
Glycogen Storage Disease Ixb
Hypoglycemia OMIM:261750
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Increased circulating free fatty acid level, Hypoglycemia OMIM:605911
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia OMIM:618958
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Hyperoxaluria, Primary, Type Iii
Calcium oxalate nephrolithiasis, Hyperoxaluria OMIM:613616
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia OMIM:619386
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Splenomegaly, Polycystic ovaries,... OMIM:269700
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Sterile pyuria, Renal magnesium wasting... OMIM:248250
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gallbladder, Biliary ... OMIM:615710
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia OMIM:615160
Porphyria, Acute Intermittent
Urinary incontinence, Elevated urinary delta-aminolevulinic acid, Dysuria, Urinary retention OMIM:176000
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
Scorpion Envenomation
Hyperglycemia, Acute kidney injury, Ketonuria, Glycosuria ORPHA:466677
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid... ORPHA:64744
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Porphyria Variegata
Chronic kidney disease, Increased urinary porphobilinogen, Porphyrinuria, Neurogenic bladder, Ele... ORPHA:79473
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... OMIM:608612
Rabson-Mendenhall Syndrome
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me... ORPHA:769
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... OMIM:203800
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hypoglycemia, Impaired gluconeogenesis, Fasting hypoglycemia OMIM:261680
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes... OMIM:248370
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Abnormal testis morphology ORPHA:791
Acute Intermittent Porphyria
Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Porphyrinu... ORPHA:79276
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal... OMIM:601346
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypoglycemia ORPHA:5
Non-Acquired Isolated Growth Hormone Deficiency
Neonatal hypoglycemia ORPHA:631
Hypoadrenocorticism, Familial
Hypoglycemia OMIM:240200
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Reni Syndrome
Hypoglycemia, Hypertriglyceridemia OMIM:617575
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Recurrent hypoglycemia ORPHA:94086
Infantile Liver Failure Syndrome 2
Hypoglycemia OMIM:616483
Prader-Willi Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Adre... OMIM:176270
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Atypical Werner Syndrome
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hyperglycemia, Hyperin... ORPHA:79474
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia OMIM:614702
Pyruvate Dehydrogenase E3 Deficiency
Hypoglycemia ORPHA:2394
Temple Syndrome
Type II diabetes mellitus, Recurrent hypoglycemia ORPHA:254516
Molybdenum Cofactor Deficiency, Type B
Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine level, Xanthin... OMIM:252160
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Diabetes mellitus, Glycosuria, Hyperglycemia OMIM:600001
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Stage 5 chronic kidney disease, In... ORPHA:89938
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia OMIM:245400
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Type II diabetes mellitus, Hypoglycemia ORPHA:453533
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypoglycemia ORPHA:35708
Glycogen Storage Disease Ia
Hypoglycemia, Xanthelasma, Hyperlipidemia, Fasting hypoglycemia OMIM:232200
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypoglycemia ORPHA:391408
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Hypoglycemia, Renal insufficiency, Rena... OMIM:276700
Classic Galactosemia
Hypoglycemia ORPHA:79239
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia ORPHA:42
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia OMIM:618253
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hypoketotic hypoglycemia OMIM:255120
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia OMIM:231530
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Hypercalciuria, Hypermagnesiuria, Hyperprost... ORPHA:73224
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia ORPHA:436174
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia OMIM:600649
Houge-Janssens Syndrome 1
Hypoglycemia OMIM:616355
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Hypoglycemia OMIM:613986
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia OMIM:262600
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia OMIM:617710
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent hypoglycemia, Ketotic hypoglycemia, Hypercholesterolemia, Fasting hypoglycemia, Hypertr... ORPHA:79240
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia ORPHA:73272
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Hsd10 Disease, Infantile Type
Hypoglycemia ORPHA:391428
Post-Traumatic Pituitary Deficiency
Hypoglycemia ORPHA:95619
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypoglycemia, Hypercholesterolemia, Fasting hypoglycemia, Hypertriglyceridemia ORPHA:264580
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Neonatal hypoglycemia, Fasting hypoglycemia ORPHA:348
Solitary Fibrous Tumor
Hypoinsulinemia, Hypoglycemia, Recurrent hypoglycemia ORPHA:2126
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper... ORPHA:508
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... OMIM:601678
Aica-Ribosiduria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hypoglycemia OMIM:212138
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hypoglycemia OMIM:620454
Cog8-Cdg
Hypoglycemia ORPHA:95428
Carnitine Deficiency, Systemic Primary
Impaired gluconeogenesis, Recurrent hypoglycemia OMIM:212140
Propionic Acidemia
Hypoglycemia OMIM:606054
Timothy Syndrome
Hypoglycemia OMIM:601005
Lesch-Nyhan Syndrome
Hyperuricosuria, Nephrocalcinosis, Nephrolithiasis OMIM:300322
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia OMIM:201450
Smith-Kingsmore Syndrome
Hypoglycemia OMIM:616638
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia OMIM:616113
Maple Syrup Urine Disease, Type Ia
Hypoglycemia OMIM:248600
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia OMIM:619046
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Increased circulating free fatty acid level OMIM:610768
Purine Nucleoside Phosphorylase Deficiency
Elevated urinary inosine level, Decreased urinary urate, Elevated urinary guanosine level, Recurr... OMIM:613179
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Recurrent hypoglycemia OMIM:616817
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Elevated urinary prostaglandin E2 level OMIM:167100
Bachmann-Bupp Syndrome
Hypoglycemia OMIM:619075
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia OMIM:606407
Long-Olsen-Distelmaier Syndrome
Hypoglycemia OMIM:620609
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia OMIM:210200
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia OMIM:611126
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Steinert Myotonic Dystrophy
Insulin resistance, Cholelithiasis, Male hypogonadism, Decreased response to growth hormone stimu... ORPHA:273
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia OMIM:301032
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia OMIM:229700
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... OMIM:241200
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia ORPHA:397590
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoglycemia OMIM:620275
Silver-Russell Syndrome 1
Fasting hypoglycemia OMIM:180860
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia OMIM:617049
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Renal insufficiency, Hyperuricosuria, Uric acid nephrolithiasis, Hypospadias OMIM:300661
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate ORPHA:760
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia OMIM:251000
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Late-Onset Isolated Acth Deficiency
Decreased circulating cortisol level, Type I diabetes mellitus, Hypoglycemia ORPHA:199299
Immunodeficiency 10
Hypoglycemia OMIM:612783
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Hypoglycemia OMIM:232220
D-Glyceric Aciduria
Hypoglycemia OMIM:220120
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia OMIM:617600
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia OMIM:620300
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Decreased circulating cortisol level, Ketotic hypoglycemia ORPHA:361
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hypoglycemia ORPHA:90790
Glutaric Acidemia I
Hypoglycemia OMIM:231670
Atelis Syndrome 2
Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration OMIM:620185
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hypoglycemia OMIM:608836
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:134
Congenital Disorder Of Glycosylation, Type Ig
Hypoglycemia OMIM:607143
Aceruloplasminemia
Elevated hepatic iron concentration, Abnormal pancreas morphology, Diabetes mellitus ORPHA:48818
Multiple Endocrine Neoplasia, Type I
Increased circulating cortisol level, Hypoglycemia OMIM:131100
Pituitary Apoplexy
Increased circulating cortisol level, Hypoglycemia ORPHA:95613
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia ORPHA:26791
Pituitary Stalk Interruption Syndrome
Hypoglycemia ORPHA:95496
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Hypoglycemia ORPHA:480864
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Hypoglycemia OMIM:619055
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hypoglycemia OMIM:232240
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Abnormality of the ovary, Hyperin... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Abnormality of the ovary, Hyperin... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Abnormality of the ovary, Hyperin... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Abnormality of the ovary, Hyperin... ORPHA:99226
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased circulating free fatty acid level ORPHA:26793
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hypoglycemia OMIM:619355
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Carnitine-Acylcarnitine Translocase Deficiency
Hypoketotic hypoglycemia, Fasting hypoglycemia ORPHA:159
Liver Disease, Severe Congenital
Intrahepatic cholestasis, Portal inflammation, Pancreatic hypoplasia, Exocrine pancreatic insuffi... OMIM:619991
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Neonatal hypoglycemia, Hypoglycemia, Hypertriglyceridemia OMIM:619418
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia ORPHA:457485
Carnitine Palmitoyltransferase Ii Deficiency
Hypoketotic hypoglycemia, Hyperlipidemia ORPHA:157
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemia, Xanthelasma, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia, Hypoglycem... ORPHA:79259
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia OMIM:201475
Combined Oxidative Phosphorylation Deficiency 59
Ketotic hypoglycemia OMIM:620646
Mirage Syndrome
Hypoglycemia OMIM:617053
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia OMIM:620224
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Generalized Glucocorticoid Resistance Syndrome
Increased circulating cortisol level, Hypoglycemia ORPHA:786
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Hypoglycemia OMIM:609069
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia ORPHA:91355
Methylmalonic Aciduria, Cblb Type
Hypoglycemia OMIM:251110
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia ORPHA:565624
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia OMIM:246450
Congenital Disorder Of Glycosylation, Type Iie
Hypoglycemia OMIM:608779
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia ORPHA:228305
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia ORPHA:90791
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia OMIM:617093
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia OMIM:618329
Combined Oxidative Phosphorylation Deficiency 58
Hypoglycemia OMIM:620451
Sotos Syndrome
Neonatal hypoglycemia, Glucose intolerance OMIM:117550
Leigh Syndrome
Hypoglycemia ORPHA:506
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia OMIM:616878
Isolated Complex I Deficiency
Diabetes mellitus, Hypoglycemia ORPHA:2609
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoglycemia OMIM:616007
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia OMIM:210210
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia ORPHA:813
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia OMIM:618005
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycemia, Hypoglycemia OMIM:620423
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hypoketotic hypoglycemia, Hyperlipidemia ORPHA:228308
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia ORPHA:445038
Congenital Disorder Of Glycosylation, Type It
Hypoglycemia OMIM:614921
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Glycerol Kinase Deficiency
Hypoglycemia, Hypertriglyceridemia OMIM:307030
Mitochondrial Trifunctional Protein Deficiency 1
Hypoketotic hypoglycemia OMIM:609015
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Hypoglycemia ORPHA:95409
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia ORPHA:99901
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia OMIM:615751
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia OMIM:251880
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Immunodeficiency 59 And Hypoglycemia
Hypoglycemia OMIM:233600
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia ORPHA:35173
Alg12-Cdg
Hypocholesterolemia, Recurrent hypoglycemia ORPHA:79324
Cholera
Hypoglycemia ORPHA:173
Orthostatic Hypotension 1
Neonatal hypoglycemia OMIM:223360
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia OMIM:616271
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hypoglycemia, Recurrent hypoglycemia OMIM:256810
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Recurrent hypoglycemia ORPHA:293978
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia ORPHA:109
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia ORPHA:66634
3-Hydroxy-3-Methylglutaric Aciduria