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Gene: Golm1 MGI:1917329

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Gene Summary

Name:
golgi membrane protein 1
Synonyms:
D030064E01Rik,  GP73,  Golph2,  2310001L02Rik,  PSEC0257

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased thermal nociceptive threshold Golm1Gt(EUC0047a08)Hmgu HOM Early adult 7.83×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Golm1 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 Golm1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Focal segmental glomeruloscle... OMIM:619263
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... OMIM:619201
Nephrotic Syndrome, Type 26
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:620049
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Focal Segmental Glomerulosclerosis 10
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... OMIM:256020
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Nephropathy, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis OMIM:182690
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... OMIM:618178
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616032
Nephronophthisis 13
Pancreatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Intrahepatic bile ... OMIM:614377
Nephrotic Syndrome, Type 17
Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... OMIM:618176
Nephrotic Syndrome, Type 9
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... OMIM:615573
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... OMIM:603965
Focal Segmental Glomerulosclerosis 9
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... OMIM:614131
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... OMIM:310468
Focal Segmental Glomerulosclerosis 5
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria OMIM:607832
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Duplicated collecting system... OMIM:617093
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Hepatic steatosis, Hirsu... OMIM:608709
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Nephrotic Syndrome, Type 2
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:600995
Nephrotic Syndrome, Type 4
Nephroblastoma, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Focal segme... OMIM:256370
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Failure to thrive, Hepatomegaly, Renal insufficiency, Lethargy ORPHA:28
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:614196
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segmental glo... OMIM:613092
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... OMIM:308990
Nephrotic Syndrome, Type 12
Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot... OMIM:616892
Coenzyme Q10 Deficiency, Primary, 6
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... OMIM:614650
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria OMIM:613944
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Failure to thrive, Ethylmalonic aciduria, Lethargy, Increased level of methyls... ORPHA:26792
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy, Renal insufficiency, Lethargy ORPHA:254857
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Nephrotic syndrome, Hepatitis, Jaundice, Hepatomegaly ORPHA:60
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... OMIM:618349
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... OMIM:619155
Hypercalcemia, Infantile, 1
Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Nephrocalcinosis, Lethargy,... OMIM:143880
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... OMIM:610725
Bardet-Biedl Syndrome 19
Hepatic steatosis, Renal hypoplasia, Renal insufficiency, Obesity, Hydronephrosis OMIM:615996
Focal Segmental Glomerulosclerosis 1
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:603278
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Proteinuria, Microscopic hematuria OMIM:161900
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:614455
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Multicystic kidney dysplasia, Renal dysplasia, Abnormal biliary trac... ORPHA:3032
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Elevated circulating ... OMIM:619386
Dihydropyrimidine Dehydrogenase Deficiency
Reduced dihydropyrimidine dehydrogenase level, Failure to thrive, Lethargy, Uraciluria OMIM:274270
Congenital Bile Acid Synthesis Defect Type 2
Hepatic failure, Jaundice, Elevated hepatic transaminase, Abnormal circulating enzyme concentrati... ORPHA:79303
Acquired Partial Lipodystrophy
Glomerulopathy, Hepatic steatosis, Proteinuria, Generalized hirsutism, Microscopic hematuria ORPHA:79087
Genetic Steroid-Resistant Nephrotic Syndrome
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... ORPHA:656
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:301006
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:617731
Carnitine Deficiency, Systemic Primary
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Co... OMIM:212140
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria OMIM:161950
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Minimal change glomer... ORPHA:567548
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Synophrys, Fine hair, Glomerular sclerosis, Glomerulonephritis, Hypospadias, ... OMIM:619428
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Congenital nephrotic syndrome, Small for gestational age, Glomerular scler... OMIM:256300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal cortic... OMIM:174000
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Hypospadias, Micronodular cirrhosis, ... OMIM:301045
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Gout, Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease OMIM:617056
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Renal insufficiency, Weight loss, Recurrent urinary tract infections, Stage 5 c... OMIM:619487
Nephrotic Syndrome, Type 11
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... OMIM:616730
Trichohepatoenteric Syndrome 2
Cirrhosis, Trichorrhexis nodosa, Brittle hair, Small for gestational age, Woolly hair, Failure to... OMIM:614602
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Renal tubular acidosis, Glycosuria, Jaundice, Elevated hepatic transaminase, Failu... OMIM:613404
Senior-Loken Syndrome 8
Pancreatic cysts, Stage 5 chronic kidney disease, Intrahepatic bile duct dilatation, Glomerular s... OMIM:616307
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... OMIM:615395
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Elevated g... OMIM:614480
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Hepatic steatosis, Renal cyst, Renal hypoplasia, Hepatom... OMIM:614922
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss, Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Distal renal tubular acidosis, Hepatosplenomegaly, Failure to thrive, Nephrocalcinos... OMIM:611590
Citrullinemia, Type Ii, Adult-Onset
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Argininosuccinic a... OMIM:603471
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Coma, Cachexia, Elevated hepatic transaminase, Dicarboxyl... ORPHA:42
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Galloway-Mowat Syndrome 6
Proteinuria, Focal segmental glomerulosclerosis, Decreased body weight, Nephrotic syndrome OMIM:618347
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating alanine aminotransferase concentration, Renal tubular acidosis, Coma, Elevat... OMIM:255120
Halothane Hepatitis
Hepatitis, Viral hepatitis, Jaundice, Obesity OMIM:234350
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Coma, Homocitrullinuria, Failure to thrive, Confusion, Hepatomegaly, Decreased liver function, Ac... OMIM:238970
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Coma, Failure to thrive, Hepatomegaly, Renal insufficiency, Lethargy, Pancreatitis ORPHA:79312
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Splenomegaly, Nephrotic syndrome, Enlarged kidney, Synophrys, Long eyelash... OMIM:617303
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Stage 5 chronic kidney disease, Nephritis, Thickened glo... OMIM:609057
C3 Glomerulopathy 3
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... OMIM:614809
Alport Syndrome
Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation... ORPHA:63
Bile Acid Synthesis Defect, Congenital, 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... OMIM:613812
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Intrahepatic biliary atresia, Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Small... OMIM:208085
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:619048
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Porphyrinuria, Periportal fibrosis, Stage 5 chronic kidney d... ORPHA:101330
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Lethargy, Skin rash ORPHA:26
Central Diabetes Insipidus
Weight loss, Nocturia, Failure to thrive, Excessive daytime somnolence, Lethargy ORPHA:178029
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Renal tubular acidosis, Coma, Elevated hepatic transaminase, Hepatomegaly, Loss ... ORPHA:156
Galloway-Mowat Syndrome 7
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... OMIM:618348
Rotor Syndrome
Intermittent jaundice, Porphyrinuria, Bilirubinuria, Storage in hepatocytes, Jaundice, Abnormal c... ORPHA:3111
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Coma, Hepatomegaly, Renal insufficiency, Lethargy, Pancreatitis, Renal tubular dysfunction ORPHA:289916
Autoimmune Hepatitis
Cirrhosis, Fulminant hepatitis, Arthritis, Sclerosing cholangitis, Diffuse hepatic steatosis, Ele... ORPHA:2137
Wilson Disease
Cirrhosis, Weight loss, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Hepatic st... ORPHA:905
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Coma, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Lethargy, Hyperglycinuria, ... OMIM:201450
Tyrosinemia, Type I
Cirrhosis, Hepatic failure, Renal Fanconi syndrome, Enlarged kidney, Elevated hepatic transaminas... OMIM:276700
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Myocarditis, Infectious encephalitis, Weight loss, Nephrotic syndro... ORPHA:139402
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis, Elevated circulating alanine aminotransferase concentration, Elevat... OMIM:614582
Galloway-Mowat Syndrome 4
Congenital nephrotic syndrome, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesang... OMIM:617730
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Increased urine alpha-ketoglutarate concentration, Elevated hepatic transaminase... ORPHA:2394
Frasier Syndrome
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:136680
Witkop Syndrome
Small nail, Fine hair, Nail pits, Ridged nail, Concave nail, Sparse hair OMIM:189500
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Hepatomegaly OMIM:618224
Galactosemia
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Abnormal erythrocyte enzyme ... ORPHA:352
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mes... OMIM:617575
Holocarboxylase Synthetase Deficiency
Alopecia, Weight loss, Keratoconjunctivitis, Coma, Eczema, Organic aciduria, Perioral eczema, Let... ORPHA:79242
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Coma, 3-hydroxyisovaleric aciduria, Failure to thrive, Elevated urinary 3-methylcroton... OMIM:210200
Coenzyme Q10 Deficiency, Primary, 1
Hepatic failure, Decreased level of coenzyme Q10 in skeletal muscle, Nephrotic syndrome, Glomerul... OMIM:607426
Hyperinsulinism Due To Hnf4A Deficiency
Drowsiness, Glycosuria, Coma, Elevated hepatic transaminase, Large for gestational age, Increased... ORPHA:263455
Hyperlysinuria With Hyperammonemia
Coma, Hyperlysinuria, Lethargy, Dibasicaminoaciduria OMIM:238750
Glycine Encephalopathy
Lethargy, Hyperglycinuria OMIM:605899
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Portal fibro... OMIM:615862
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Glycosuria, Elevated hepatic transaminase, Failure to thrive, Lethargy ORPHA:2089
Myh9-Related Disease
Elevated hepatic transaminase, Nephritis, Nephropathy, Proteinuria, Prolonged bleeding time, Rena... ORPHA:182050
Posterior Urethral Valve
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... ORPHA:93110
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis, Increased urinary copper concentration ORPHA:209919
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Lethargy ORPHA:79283
Hypotrichosis 4
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes OMIM:146550
Lymphoproliferative Syndrome, X-Linked, 2
Folliculitis, Hepatitis, Erythema nodosum, Inflammation of the large intestine, Colitis, Hepatome... OMIM:300635
Multiple Carboxylase Deficiency
Alopecia, Coma, Skin rash, Decreased circulating biotinidase concentration, Abnormal circulating ... ORPHA:148
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase OMIM:618400
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure, Renal steatosis OMIM:261650
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Coma, Failure to thrive, Hepatomega... OMIM:251000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Gout, Nephropathy, Decreased glomerular filtration rate, Renal ... OMIM:162000
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Hepatitis, Arthritis, Eczema, Glomerulonephritis, Failure to thrive, Erythroderma OMIM:304790
Mu-Heavy Chain Disease
Weight loss, Nephropathy, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly ORPHA:100024
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Synophrys, Elevated hepatic transaminase, Long eyelashes, Hepatomegaly, Lethargy, Failure to thri... OMIM:619064
Citrullinemia Type Ii
Hepatic fibrosis, Delirium, Fluctuations in consciousness, Drowsiness, Coma, Elevated hepatic tra... ORPHA:247585
Galloway-Mowat Syndrome 9
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, ... OMIM:619603
Homocystinuria Without Methylmalonic Aciduria
Failure to thrive, Lethargy ORPHA:622
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Tubulointerstitial nephritis, Scleritis, Acute kidney injury, Arteri... ORPHA:93126
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Argininosuccinic Aciduria
Aminoaciduria, Hepatic fibrosis, Dry hair, Trichorrhexis nodosa, Brittle hair, Coma, Elevated cir... OMIM:207900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Splenomegaly, Recurrent otitis media ORPHA:444463
Frasier Syndrome
Nephroblastoma, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segme... ORPHA:347
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Decreased methionine synthase activity, Failure to thrive, Homocystinuria, Methylmalonic aciduria... OMIM:236270
Glycerol Kinase Deficiency
Coma, Small for gestational age, Increased urinary glycerol, Loss of consciousness, Lethargy OMIM:307030
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Lethargy, Elevated hepatic transaminase, Hepatomegaly OMIM:613561
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Small for ges... ORPHA:97362
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy, Herpes simplex encephalitis OMIM:617900
Vitamin B12-Unresponsive Methylmalonic Acidemia
Coma, Hepatomegaly, Renal insufficiency, Lethargy, Pancreatitis ORPHA:27
Cryoglobulinemic Vasculitis
Glomerulopathy, Abnormality of the liver, Arthritis, Keratoconjunctivitis sicca, Hematuria, Viral... ORPHA:91138
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Glomerulopathy, Abnormality of the liver, Drowsiness, Failure to thriv... ORPHA:2169
Congenital Disorder Of Glycosylation, Type It
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated hepatic transami... OMIM:614921
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Lethargy, Elevated hepatic transaminase, Hepatomegaly OMIM:246900
Cirrhosis, Familial
Cirrhosis, Biliary cirrhosis, Fulminant hepatitis, Jaundice, Micronodular cirrhosis, Increased le... OMIM:215600
Crandall Syndrome
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Brittle hair, Hypoplas... ORPHA:202
African Iron Overload
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos... ORPHA:139507
Hyperinsulinism Due To Ucp2 Deficiency
Drowsiness, Large for gestational age, Diffuse pancreatic islet hyperplasia, Hypoglycemic coma, H... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Drowsiness, Large for gestational age, Diffuse pancreatic islet hyperplasia, Hypoglycemic coma, L... ORPHA:276575
Glycogen Storage Disease Ia
Enlarged kidney, Elevated hepatic transaminase, Hepatocellular carcinoma, Gout, Decreased glomeru... OMIM:232200
Hawkinsinuria
4-hydroxyphenylacetic aciduria, Fine hair, Failure to thrive, 4-Hydroxyphenylpyruvic aciduria, Sp... ORPHA:2118
Glycogen Storage Disease Ib
Splenomegaly, Enlarged kidney, Elevated hepatic transaminase, Hepatocellular carcinoma, Gout, Inf... OMIM:232220
Hemochromatosis, Type 2A
Cirrhosis, Arthritis, Hepatomegaly, Lethargy, Splenomegaly OMIM:602390
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nodular regenerative hyperplasia of liver, Skin rash, Glomerular sclerosis, Elevated gamma-glutam... ORPHA:247691
Hyperinsulinism Due To Hnf1A Deficiency
Drowsiness, Small for gestational age, Large for gestational age, Hypoglycemic coma, Hepatomegaly... ORPHA:324575
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Elevated circulating alkaline phosphatase concentration, Elevated hepatic tran... OMIM:616829
Combined Oxidative Phosphorylation Deficiency 2
Small for gestational age, Lethargy, Elevated hepatic transaminase OMIM:610498
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Lethargy OMIM:617065
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy, Herpes simplex encephalitis OMIM:613002
Crigler-Najjar Syndrome
Infectious encephalitis, Jaundice, Lethargy, Abnormality of the liver ORPHA:205
Systemic Lupus Erythematosus
Malar rash, Arthritis, Nephritis, Pericarditis, Lupus nephritis OMIM:152700
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Pili torti, Sparse or absent eyel... ORPHA:2891
X-Linked Agammaglobulinemia
Conjunctivitis, Alopecia, Osteomyelitis, Weight loss, Hepatitis, Skin rash, Arthritis, Failure to... ORPHA:47
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Exercise-induced myoglobinuria, Necrotizing enteroc... OMIM:201475
Nephrotic Syndrome, Type 21
Stage 5 chronic kidney disease, Podocyte foot process effacement, Steroid-resistant nephrotic syn... OMIM:618594
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Confusion, Lethargy OMIM:606777
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Elevated hepatic transaminase, Increased muscle lipid content, Hepatomegaly OMIM:610717
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic necrosis, Elevated hepatic transaminase,... ORPHA:71212
Multiple Acyl-Coa Dehydrogenase Deficiency
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Jaundice, Polycystic kidney dysplasia, Ge... OMIM:231680
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Abnormality of the kidney, Elevated hepatic transaminase, Hepatocell... ORPHA:369
Adrenomyodystrophy
Hepatic steatosis, Abnormality of the urinary system, Failure to thrive, Megacystis ORPHA:977
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase c... OMIM:214950
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Drowsiness, Large for gestational age, Diffuse pancreatic islet hyperplasia, Hypoglycemic coma, H... ORPHA:276580
Propionic Acidemia
Coma, Eczema, Failure to thrive, Increased level of hippuric acid in urine, Hepatomegaly, Propion... OMIM:606054
Dent Disease
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... ORPHA:1652
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... ORPHA:730
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hydronephrosis, Elevated circulating alanine aminotransferase concentration, Hypoplastic toenails... OMIM:608836
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Drowsiness, Coma, Pancreatic islet-cell hyperplasia, Lethargy, Increased body weight ORPHA:276608
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Legionnaires Disease
Endocarditis, Splenomegaly, Infectious encephalitis, Hepatitis, Jaundice, Hematuria, Pericarditis... ORPHA:549
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... OMIM:104200
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Elevated circulating alanine aminotransferase concentration, Micr... OMIM:613070
Glutaric Acidemia Type 3
Failure to thrive, Lethargy, Glutaric aciduria, Ketonuria ORPHA:35706
Heme Oxygenase 1 Deficiency
Asplenia, Elevated circulating alanine aminotransferase concentration, Hematuria, Elevated circul... OMIM:614034
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Crusting erythematous dermatitis, Cachexia, Elevated hepatic transaminase, Eczema, Myositis, Gast... ORPHA:37042
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Alstrom Syndrome
Tubulointerstitial nephritis, Alopecia, Chronic active hepatitis, Elevated hepatic transaminase, ... OMIM:203800
Complement Component 4B Deficiency
Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Chronic active hepatitis OMIM:614379
Riboflavin Deficiency
Lethargy, Dicarboxylic aciduria OMIM:615026
Ddost-Cdg
Hepatic steatosis, Nephrotic range proteinuria, Elevated hepatic transaminase, Failure to thrive ORPHA:300536
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Hematuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary dopa... ORPHA:276621
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Stage 5 chronic kidney disease, Small for gestational age, Fine hair, Protein... OMIM:242900
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... OMIM:203780
Scrub Typhus
Myocarditis, Infectious encephalitis, Skin rash, Reduced consciousness/confusion, Renal insuffici... ORPHA:83317
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Delirium, Drowsiness, Coma, Failure to thrive, Hepatomegaly, Loss of consciousness, Confusion, Le... ORPHA:927
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... OMIM:607765
Hemochromatosis Type 2
Elevated hepatic transaminase, Lethargy, Abnormality of endocrine pancreas physiology, Congenital... ORPHA:79230
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Increased circulating lactate dehydrogenase concentr... OMIM:600649
Lysosomal Acid Lipase Deficiency
Low alkaline phosphatase, Hepatic fibrosis, Elevated circulating alanine aminotransferase concent... OMIM:278000
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Small for gestational age, Minimal c... ORPHA:1830
Simple Cryoglobulinemia
Weight loss, Nephrotic syndrome, Abnormality of the kidney, Arthritis, Membranoproliferative glom... ORPHA:91139
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Interface hepatitis, Failure to thrive in infancy... OMIM:611182
Mitochondrial Complex I Deficiency, Nuclear Type 6
Failure to thrive, Lethargy OMIM:618228
3-Methylglutaconic Aciduria, Type V
3-Methylglutaconic aciduria, Elevated circulating alanine aminotransferase concentration, Microve... OMIM:610198
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Combined Oxidative Phosphorylation Deficiency 19
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... OMIM:615595
Gracile Syndrome
Cirrhosis, Hepatic steatosis, Cholestasis, Elevated hepatic iron concentration, Renal Fanconi syn... ORPHA:53693
Growth Hormone Insensitivity Syndrome
Hypoplasia of penis, Fine hair, Abnormality of the nail, Failure to thrive, Truncal obesity ORPHA:181393
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hepatic fibrosis, Stage 5 chronic kidney disease, Cholestasis, Neph... OMIM:616629
Autosomal Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Bronchiectasis, Hepatitis, Skin rash, Arthritis, Failure to thrive... ORPHA:33110
N-Acetylglutamate Synthase Deficiency
Coma, Failure to thrive, Confusion, Lethargy OMIM:237310
Xanthinuria, Type I
Reduced xanthine dehydrogenase level, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria, Hydr... OMIM:278300
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Lethargy, Failure to thrive OMIM:250620
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated hepatic transaminase, Elevated circulating aspartate aminotra... OMIM:609015
Developmental And Epileptic Encephalopathy 41
Nephrocalcinosis, Lethargy OMIM:617105
Methylmalonic Acidemia With Homocystinuria Type Cblf
Skin rash, Unilateral renal agenesis, Stomatitis, Reduced number of intrahepatic bile ducts, Fail... ORPHA:79284
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Elevated hepatic transaminase, Dicarboxylic aciduria, Hepatic steatosis, Hepatomegaly, Leth... OMIM:212138
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Pro... ORPHA:439232
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Very long chain fatty acid accumulation, Elevated hepatic transaminase... OMIM:264470
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Fulminant hepatitis, Coma, Jaundice, Elevated hepatic transaminase, Hashimoto th... OMIM:618549
Bacterial Toxic-Shock Syndrome
Septic arthritis, Myocarditis, Renal insufficiency, Osteomyelitis, Infectious encephalitis, Recur... ORPHA:36234
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Hepatosplenomegaly, Eosinophilic liver infiltration, Failure to thrive, Colon... OMIM:618999
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Weight loss, Cachexia, Failure to thrive OMIM:612075
2-Methylbutyryl-Coa Dehydrogenase Deficiency
2-ethylhydracylic aciduria, Lethargy OMIM:610006
Pseudo-Torch Syndrome 2
Abnormal renal corticomedullary differentiation, Lethargy, Elevated hepatic transaminase, Hepatom... OMIM:617397
Fanconi-Bickel Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... ORPHA:2088
Infantile Liver Failure Syndrome 2
Jaundice, Elevated hepatic transaminase, Acute hepatic failure, Prolonged prothrombin time, Lethargy OMIM:616483
Primary Sclerosing Cholangitis
Elevated alkaline phosphatase of hepatic origin, Cholangiocarcinoma, Elevated hepatic transaminas... ORPHA:171
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the pancreas, Weight loss, Jaundice, Splenic cyst, Elevated he... ORPHA:400
Pediatric Systemic Lupus Erythematosus
Malar rash, Increased circulating lactate dehydrogenase concentration, Alopecia, Nephrotic syndro... ORPHA:93552
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Renal steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, In... OMIM:261680
Fructose-1,6-Bisphosphatase Deficiency
Coma, Lethargy, Hepatomegaly, Increased urinary glycerol OMIM:229700
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Microvesicular hepatic steatosis, Cirrhosis, Jaundice, 4-hydroxyphenylacetic aci... OMIM:617156
Biotinidase Deficiency
Conjunctivitis, Alopecia, Skin rash, Decreased circulating biotinidase concentration, Organic aci... OMIM:253260
Griscelli Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Hepatitis, Jaundice, Silver-gray hair, Ab... ORPHA:381
Citrullinemia Type I
Hepatic failure, Coma, Failure to thrive, Loss of consciousness, Lethargy ORPHA:247525
Mitochondrial Complex I Deficiency, Nuclear Type 5
Failure to thrive, Lethargy, Hepatomegaly OMIM:618226
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Obesity OMIM:615703
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Ketonuria, Coma, Organic aciduria, Failure to thrive, Propionyl-CoA carboxylase deficie... OMIM:210210
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal duplication, Aplasia of the bladder, Renal dysplasia, Scarring alopecia of scalp, Glomerula... ORPHA:158684
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Hepatitis, Abnormal renal tubule morphology, Cholestasis, Cholestatic liver ... ORPHA:440713
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Obesi... ORPHA:209902
Maple Syrup Urine Disease
Lethargy, Increased level of hippuric acid in urine, Pancreatitis, Coma OMIM:248600
Majeed Syndrome
Glomerulopathy, Osteomyelitis, Weight loss, Inflammatory abnormality of the skin, Cachexia, Synov... ORPHA:77297
Fructose Intolerance, Hereditary
Transient aminoaciduria, Cirrhosis, Proximal tubulopathy, Glycosuria, Coma, Jaundice, Hyperphosph... OMIM:229600
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Diffuse hepatic steatosis, Failure to thrive, Exces... ORPHA:436271
Complement Factor I Deficiency
Septic arthritis, Recurrent urinary tract infections, Pyelonephritis, Recurrent sinusitis, Recurr... OMIM:610984
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Renal tubular acidosis, Elevated hepatic transaminase, Hepatocellula... ORPHA:370
Caroli Disease
Hepatic fibrosis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration,... ORPHA:53035
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss, Ketonuria, Coma, Jaundice, Elevated hepatic transaminase, Hypoglycemic coma, Acute p... ORPHA:20
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis, Sparse lateral eyebrow ORPHA:363523
Chronic Mucocutaneous Candidiasis
Recurrent urinary tract infections, Hepatitis, Skin rash, Hematuria, Abnormality of the nail, Abn... ORPHA:1334
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Hepatic steatosis, Failure to thrive, Hypo... ORPHA:70472
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Reduced carnitine O-palmitoyltransferase level, Hepatic failure, Co... ORPHA:228308
Microsporidiosis
Prostatitis, Cachexia, Biliary tract abnormality, Myositis, Pneumonia, Lymphadenitis, Endocarditi... ORPHA:2552
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Febrile Infection-Related Epilepsy Syndrome
Lethargy, Sinusitis ORPHA:163703
Methylmalonic Aciduria, Cblb Type
Ketonuria, Coma, Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Hepatomegaly, Me... OMIM:251110
Idiopathic Achalasia
Recurrent aspiration pneumonia, Weight loss ORPHA:930
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Dicarboxylic aciduria, Hepatic steatosis, Decreased 3-hydroxyacyl-CoA dehydroge... OMIM:231530
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Hepatitis, Coma, Elevated hepatic transaminase, Oroticaciduria, Failure to thriv... ORPHA:415
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Alopecia, Atrophic gastritis, Chronic oral candidiasis, Keratoconjunctivitis, Chronic a... OMIM:240300
Immunodeficiency 56
Hepatic failure, Cirrhosis, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Cholangi... OMIM:615207
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Failure to thrive, Hepatic failure, Hepatomegaly OMIM:617872
Glycogen Storage Disease Ic
Chronic pancreatitis, Hepatocellular carcinoma, Hematuria, Stomatitis, Hepatoblastoma, Gout, Infl... OMIM:232240
Hereditary Pheochromocytoma-Paraganglioma
Weight loss, Renal cell carcinoma, Elevated urinary epinephrine, Hematuria, Glomerular sclerosis,... ORPHA:29072
Alagille Syndrome 1
Vesicoureteral reflux, Hepatic failure, Cirrhosis, Multiple small medullary renal cysts, Renal tu... OMIM:118450
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss ORPHA:141152
Dihydropyrimidinase Deficiency
Reduced dihydropyrimidine dehydrogenase level, Excessive daytime somnolence, Lethargy, Uraciluria OMIM:222748
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Impaired renal concentrating ability, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Reduc... OMIM:602522
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Failure to thrive in infancy, Elevated hepatic transaminase, ... OMIM:232700
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cirrhosis, Weight loss, Jaundice, Hepatocellular carcinoma, Elevated hepatic tran... ORPHA:65682
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome OMIM:249660
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the pancreas, Abnormality of ... ORPHA:93111
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... OMIM:251880
Galloway-Mowat Syndrome 3
Nephrotic syndrome, Stage 5 chronic kidney disease, Glomerular sclerosis, Failure to thrive, Diff... OMIM:617729
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Hepatomegaly, Fai... OMIM:618805
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Hepatitis, Hepatosplenomegaly, Recurrent pneumonia, Otitis media, Failu... ORPHA:169160
Diencephalic Syndrome
Cachexia, Decreased body weight, Long penis ORPHA:1672
Q Fever
Endocarditis, Myocarditis, Maculopapular exanthema, Abnormality of the liver, Osteomyelitis, Weig... ORPHA:781
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Elevated circulating alanine aminotransferase concentration, Coma, Elevated circulating aspartate... OMIM:311250
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss ORPHA:30925
Classic Glucose Transporter Type 1 Deficiency Syndrome
Confusion, Lethargy ORPHA:71277
Methylmalonic Aciduria, Cbla Type
Ketonuria, Coma, Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Hepatomegaly, Me... OMIM:251100
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
3-Methylglutaconic aciduria, Lethargy OMIM:618120
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hemolytic-uremic syndrome, Methylmalonic aciduria, Decreased methionine synthase activity, Deliri... OMIM:277400
Typhoid
Coma, Skin rash, Hepatomegaly, Infectious encephalitis, Lethargy, Splenomegaly ORPHA:99745
Lichen Planopilaris
Hepatitis, Alopecia, Abnormal fingernail morphology, Onycholysis ORPHA:525
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic failure, Coma, Elevated hepatic transaminase, Dicarboxylic aciduria, Oliguria, Hepatomega... ORPHA:159
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Bradykinesia OMIM:618683
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomegaly, Acute hepatic ... OMIM:615438
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatosplenomegaly, Hepatomegaly, Renal cortical microcysts, Let... OMIM:614866
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:79084
Wilson Disease
Aminoaciduria, Hyperphosphaturia, Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, Neph... OMIM:277900
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Decreased methionine synthase activity, Failure to thrive, Homocystinuria, Methylmalonic aciduria... OMIM:614857
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Macrosc... ORPHA:567546
Citrullinemia, Classic
Cirrhosis, Coma, Oroticaciduria, Failure to thrive, Hepatomegaly, Lethargy OMIM:215700
Meningococcal Meningitis
Infectious encephalitis, Drowsiness, Skin rash, Reduced consciousness/confusion, Renal insufficie... ORPHA:33475
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Reversible renal failure, Panuve... OMIM:607665
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Renal tubular acidosis, Increased body weight, Elevated hepatic tran... ORPHA:264580
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Reduced carnitine O-palmitoyltransferase level, Hepatic failure, Elevated hepatic transaminase, H... ORPHA:228305
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency, Focal segmenta... OMIM:254900
Holocarboxylase Synthetase Deficiency
Alopecia, Coma, Skin rash, 3-hydroxyisovaleric aciduria, Organic aciduria, Elevated urinary 3-met... OMIM:253270
Fructose-1,6-Bisphosphatase Deficiency
Drowsiness, Coma, Elevated hepatic transaminase, Abnormal circulating enzyme concentration or act... ORPHA:348
Lysinuric Protein Intolerance
Hyperlysinuria, Ornithinuria, Elevated hepatic transaminase, Hepatosplenomegaly, Glomerulonephrit... ORPHA:470
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... ORPHA:541423
Isovaleric Acidemia
Coma, Lethargy, Hyperglycinuria OMIM:243500
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Splenomegaly, Hepatitis, Hemoglobinuria, Jaundice, Hepatomegaly, Cholelithiasis OMIM:194380
Attrv30M Amyloidosis
Nephropathy, Abnormal renal physiology, Weight loss ORPHA:85447
Hereditary Fructose Intolerance
Reduced circulating aldolase concentration, Coma, Jaundice, Chronic hepatic failure, Hepatomegaly... ORPHA:469
Severe Canavan Disease
Lethargy ORPHA:314911
Melas
Recurrent pancreatitis, Proximal tubulopathy, Fluctuations in consciousness, Failure to thrive, N... ORPHA:550
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hirsutism, Hepatomegaly, Splenomegaly OMIM:612526
Hemochromatosis, Type 4
Hepatic steatosis, Cirrhosis, Hepatomegaly, Osteoarthritis OMIM:606069
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Undifferentiated Pleomorphic Sarcoma
Abnormality of the peritoneum, Weight loss ORPHA:2023
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Decreased methionine synthase activity, Cystathioninuria, Small for gestational age, Skin rash, S... OMIM:277380
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Graft Versus Host Disease
Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Jaundice, Inflammatory ... ORPHA:39812
Trichodysplasia-Xeroderma Syndrome
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ... ORPHA:3361
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Relapsing Polychondritis
Conjunctivitis, Glomerulopathy, Alopecia, Recurrent aphthous stomatitis, Scleritis, Hepatitis, Ar... ORPHA:728
Tuberculosis
Weight loss ORPHA:3389
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Methioninuria, Brittle hair, Hepatic steatosis, Failure to thrive, Homocystinuria, Pancreatitis OMIM:236200
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism, Jaundice, Elevated... ORPHA:64743
Yao Syndrome
Weight loss, Inflammatory abnormality of the skin, Arthritis, Skin rash, Keratoconjunctivitis sic... OMIM:617321
Netherton Syndrome
Aminoaciduria, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Skin rash, Eczema, Fine h... ORPHA:634
Infantile Liver Failure Syndrome 3
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasi... OMIM:618641
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Hepatitis, Splenic cyst, Polycystic ki... OMIM:610199
Multiple Mitochondrial Dysfunctions Syndrome 1
Alpha-aminoadipic aciduria, Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Fa... OMIM:605711
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated hepatic transaminase, Dicarboxylic aciduria, Hepatic steatosis, Failure to thrive, Prolo... ORPHA:99901
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Weight loss, Arthritis, Cholangiocarcinoma, Hepatocellular carcinoma, Chronic hepatic ... ORPHA:465508
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal tubular atrophy, Sparse eyebrow, Sparse scalp hair, Nephrotic syndrome, Fine hair, Onycholy... OMIM:614748
Avian Influenza
Conjunctivitis, Myelitis, Hepatitis, Acute kidney injury, Elevated hepatic transaminase, Increase... ORPHA:454836
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Weight loss, Nephrotic syndrome, Renal inter... ORPHA:85450
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Tubulointerstitial nephritis, Reduced carnitine O-palmitoyltransferase level, Stage 5 chronic kid... ORPHA:228302
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Ectodermal Dysplasia 4, Hair/Nail Type
Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O... OMIM:602032
Classic Galactosemia
Hepatic failure, Jaundice, Elevated hepatic transaminase, Abnormal erythrocyte enzyme level, Abno... ORPHA:79239
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Weight loss, ... OMIM:619377
Denys-Drash Syndrome
Nephroblastoma, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidney, Nephropathy,... OMIM:194080
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Elevated hepatic transaminase, Hepatic steatosis, Renal cyst, Nephro... ORPHA:445038
Pontocerebellar Hypoplasia, Type 6
Failure to thrive, Lethargy OMIM:611523
Rhabdoid Tumor
Renal neoplasm, Neoplasm of the liver, Hematuria, Weight loss ORPHA:69077
Interstitial Lung And Liver Disease
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Cir... OMIM:615486
Bare Lymphocyte Syndrome, Type Ii
Recurrent urinary tract infections, Biliary tract abnormality, Cholangitis, Viral hepatitis, Fail... OMIM:209920
Nephroblastoma
Nephroblastoma, Neoplasm of the liver, Hematuria, Weight loss ORPHA:654
Sulfite Oxidase Deficiency, Isolated
Sulfite oxidase deficiency, Eczema, Fine hair, Increased urinary sulfite, Decreased urinary sulfa... OMIM:272300
Erythrokeratodermia Variabilis
Alopecia, Weight loss, Skin rash, Abnormality of the nail, Abnormal hair morphology, Generalized ... ORPHA:317
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Splenomegaly, Hepatomegaly ORPHA:86893
Aredyld Syndrome
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Cachexia, Abnormality of the ureter, Hepatom... ORPHA:1133
Dopa-Responsive Dystonia
Urinary incontinence, Lethargy ORPHA:255
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Pyelonephritis, Nephritis, Renal dysplasia OMIM:314300
Macrophage Activation Syndrome
Elevated circulating alanine aminotransferase concentration, Increased circulating lactate dehydr... ORPHA:158061
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Adult-Onset Still Disease
Hepatitis, Skin rash, Arthritis, Elevated hepatic transaminase, Pericarditis, Hepatomegaly, Myoca... ORPHA:829
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Cirrhosis, Chronic oral candidiasis, Hepatitis, Sclerosing cholangitis,... OMIM:308230
Mulibrey Nanism
Cachexia, Hepatomegaly ORPHA:2576
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Lethargy OMIM:312170
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Small for gestational age, Elevated hepatic transaminase, Punctate keratitis, Fa... OMIM:557000
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Abnormality of the pubic hair, Allergic rhinitis,... ORPHA:90368
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Hepatic fibrosis, Jaundice, Nephritis, Renal cyst, Polycystic liver disease, Bi... OMIM:208500
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of the nail, Abnorma... ORPHA:2889
Primary Biliary Cholangitis
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hepatic failure, Hepatitis, Jaundice, Hepatocellu... ORPHA:186
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Nep... OMIM:301050
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Lethargy ORPHA:95717
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair OMIM:616760
Galloway-Mowat Syndrome 1
Small nail, Nephrotic syndrome, Small for gestational age, Diffuse mesangial sclerosis, Proteinur... OMIM:251300
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Alopecia, Renal cell carcinoma, Hepatic steatosis, Hirsutism, Acne, Nephrolithiasis, Abdominal ob... ORPHA:189427
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Portal fibrosis, Hepatic steatosis, ... OMIM:614300
Clouston Syndrome
Conjunctivitis, Alopecia, Sparse eyebrow, Small nail, Brittle hair, Alopecia totalis, Fine hair, ... OMIM:129500
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Stage 5 chronic kidney disease, Supernumerary nipple, Chronic tubulointerstitial nephritis, Glome... OMIM:614376
Transcobalamin Ii Deficiency
Failure to thrive, Methylmalonic aciduria, Lethargy, Hepatomegaly OMIM:275350
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... OMIM:615244
Beta-Thalassemia
Hepatitis, Splenomegaly, Hepatomegaly, Cholelithiasis ORPHA:848
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urine acetoacetic acid level, Ketonuria, Elevated urinary 3-hydroxybutyric acid, Jaundic... OMIM:615751
Wild Type Attr Amyloidosis
Weight loss, Nephrotic syndrome, Elevated circulating alkaline phosphatase concentration, Nephrop... ORPHA:330001
Insulinoma
Fluctuations in consciousness, Coma, Reduced consciousness/confusion, Abnormality of the pancreat... ORPHA:97279
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Cirrhosis, Generalized hirsutism, Hepatomegaly ORPHA:363400
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Low alkaline phosphatase, Failure to thrive, Alopecia of scalp, Hepatomegaly, Paronychia, Letharg... OMIM:201100
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis ORPHA:139491
Distal Trisomy 6P
Fine hair, Abnormal hair quantity, Renal hypoplasia, Abnormal eyelash morphology, Abnormality of ... ORPHA:1745
Hardikar Syndrome
Hypoplasia of the bladder, Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly... OMIM:301068
Pfapa Syndrome
Weight loss, Arthritis, Hepatomegaly, Infectious encephalitis, Splenomegaly ORPHA:42642
Aspergillosis
Osteomyelitis, Bronchiectasis, Hepatitis, Abnormality of the kidney, Sinusitis, Keratitis, Infect... ORPHA:1163
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Elevated circulating alkaline phosphatase concentration, Urinary bladder sphin... ORPHA:52430
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Small for gestational age, Jau... ORPHA:567983
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Hepatic fibrosis, Nephrotic syndrome, Elevated hepatic transaminase, Hepati... OMIM:212065
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Stage ... OMIM:603860
Weaver Syndrome
Hypoplastic toenails, Hypoplasia of penis, Fine hair, Deep-set nails, Thin nail, Abnormal fingern... ORPHA:3447
Combined Oxidative Phosphorylation Deficiency 37
3-Methylglutaconic aciduria, Elevated hepatic transaminase, Elevated gamma-glutamyltransferase le... OMIM:618329
Monilethrix
Alopecia, Brittle hair, Nail dysplasia, Abnormality of hair texture, Sparse hair, Nail dystrophy OMIM:158000
Hodgkin Lymphoma
Weight loss, Splenomegaly, Hepatomegaly ORPHA:98293
Craniofrontonasal Dysplasia
Abnormality of hair texture, Widow's peak, Woolly hair, Hypospadias, Low posterior hairline, Ridg... ORPHA:1520
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Glomerular sclerosis OMIM:223900
Primary Pigmented Nodular Adrenocortical Disease
Alopecia, Elevated hepatic transaminase, Hepatic steatosis, Hirsutism, Nephrolithiasis, Acne, Abd... ORPHA:189439
Arima Syndrome
Renal tubular atrophy, Hepatic fibrosis, Cirrhosis, Stage 5 chronic kidney disease, Renal sodium ... OMIM:243910
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Renal Fanconi syndrome, Glycosuria, Hyperphosphaturia, Increased intramyocellular ... OMIM:220110
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Hepatomegaly ORPHA:2198
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Splenomegaly, Abnormality of the nail, Hepatic steatosis, Hepatomegaly, Generaliz... ORPHA:2348
Trichohepatoenteric Syndrome 1
Hepatic fibrosis, Cirrhosis, Hepatic failure, Abnormality of the pancreas, Curly hair, Brittle ha... OMIM:222470
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Abnormal eyelash m... ORPHA:573
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy OMIM:618225
Autoimmune Lymphoproliferative Syndrome, Type Iia
Malar rash, Nephrotic syndrome, Nephritis, Hepatomegaly, Splenomegaly OMIM:603909
Systemic Capillary Leak Syndrome
Weight loss, Abnormal renal tubule morphology, Pericarditis, Oliguria, Renal insufficiency, Myoca... ORPHA:188
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Bradykinesia ORPHA:101150
Gitelman Syndrome
Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Neoplasm of the pancr... ORPHA:358
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Hepatitis, Hypersplenism, Thyroiditis, Cholangitis, Hepatosplenomegaly, Portal hyperte... ORPHA:228426
Spondyloenchondrodysplasia
Juvenile rheumatoid arthritis, Hepatitis, Skin rash, Arthritis, Hematuria, Proteinuria, Pneumonia... ORPHA:1855
Mucopolysaccharidosis, Type Iiib
Synophrys, Hirsutism, Hepatomegaly, Coarse hair, Splenomegaly, Heparan sulfate excretion in urine OMIM:252920
Rift Valley Fever
Hepatitis, Skin rash, Jaundice, Hematuria, Elevated hepatic transaminase, Uveitis, Reduced consci... ORPHA:319251
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Glycosuria, Myositis, Hashimoto thyroiditis ORPHA:589
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, Small for gestational age, Neoplasm of the pancreas, Elevated hepatic transaminase, Hep... ORPHA:2959
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Coarse hair, Renal hypoplasia, Nail dystrophy ORPHA:75389
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic toenails, Fine hair, Abnormality of the nail, Abnormal fingernail morphology, Hypopla... ORPHA:2228
Postinfectious Vasculitis
Bacterial endocarditis, Weight loss, Inflammatory abnormality of the skin, Arthritis, Gastrointes... ORPHA:48435
Insulin-Resistance Syndrome Type B
Alopecia, Biliary cirrhosis, Decreased body weight, Weight loss, Glycosuria, Skin rash, Nephritis... ORPHA:2298
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enterocolitis, Periodontitis, Stage 5 chronic kidney disease, Enlarged kidney, Thyroiditis, Hepat... ORPHA:79259
Autoimmune Polyendocrinopathy Type 4
Tubulointerstitial nephritis, Alopecia, Biliary cirrhosis, Atrophic gastritis, Iridocyclitis, Hep... ORPHA:227990
Mitochondrial Trifunctional Protein Deficiency
Coma, Diffuse hepatic steatosis, Chronic hepatic failure, Cholestasis, Lethargy, Failure to thriv... ORPHA:746
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Small for gestational age, Jaundice, Elevated hepatic trans... ORPHA:26793
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Microves... OMIM:256810
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity, Homocystinur... OMIM:277410
Plasminogen Deficiency, Type I
Conjunctivitis, Periodontitis, Nephrolithiasis, Nephritis OMIM:217090
Mucopolysaccharidosis, Type Iiia
Synophrys, Hirsutism, Hepatomegaly, Coarse hair, Splenomegaly, Heparan sulfate excretion in urine OMIM:252900
Congenital Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Failure to thrive, Hepatomegaly, Low posterior hairline, Hypertrich... ORPHA:528
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Aplasia/Hypoplasia of the eyebrow, Polycystic kidney dysplasia, Fine hair, Rena... OMIM:614091
Familial Hypoaldosteronism
Renal salt wasting, Proximal renal tubular acidosis, Failure to thrive, Lethargy, Decreased urina... ORPHA:427
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Hypersplenism, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Failure to th... OMIM:613385
Noonan Syndrome 9
Hydroureter, Curly hair, Prolonged prothrombin time, Sparse eyebrow OMIM:616559
19P13.12 Microdeletion Syndrome
Synophrys, Hepatic steatosis, Hypospadias, Obesity, Generalized hirsutism ORPHA:254346
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... OMIM:602088
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Atrophic gastritis, Weight loss, Nephrotic syndrome, Hepatitis, Skin rash, Art... OMIM:615846
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Tubulointerstitial nephritis, Aminoaciduria, Microvesicular hepatic steatosis, Periportal fibrosi... OMIM:124000
Carnitine Palmitoyltransferase Ii Deficiency
Tubulointerstitial nephritis, Reduced carnitine O-palmitoyltransferase level, Hepatic failure, St... ORPHA:157
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Small for gestational age, Sparse hair, Fine hair OMIM:616817
Pili Torti-Onychodysplasia Syndrome
Sparse body hair, Alopecia, Brittle hair, Absent eyelashes, Alopecia universalis, Eczema, Trichod... ORPHA:2890
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cirrhosis, Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Elevated hepat... ORPHA:562639
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse eyebrow, Elevated hepatic transaminase, Nail dystrophy, Hepatomegaly, Proteinuria, Focal s... OMIM:619127
Glucose-Galactose Malabsorption
Weight loss, Hematuria, Failure to thrive, Renal insufficiency, Nephrolithiasis ORPHA:35710
Autoimmune Polyendocrinopathy Type 3
Tubulointerstitial nephritis, Alopecia, Biliary cirrhosis, Atrophic gastritis, Iridocyclitis, Hep... ORPHA:227982
Budd-Chiari Syndrome
Cirrhosis, Weight loss, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Por... ORPHA:131
Dyschondrosteosis And Nephritis
Nephritis OMIM:127350
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Macrocephaly/Autism Syndrome
Large for gestational age, Recurrent otitis media, Penile freckling, Hepatomegaly, Coarse hair, O... OMIM:605309
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
Dpm1-Cdg
Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Failure t... ORPHA:79322
Moynahan Syndrome
Alopecia, Cachexia, Sparse hair ORPHA:2574
Cronkhite-Canada Syndrome
Sparse body hair, Alopecia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Hypoplastic to... ORPHA:2930
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hypoplastic toenails, Lethargy, Hepatomegaly OMIM:604377
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Pericarditis, Renal interstitia... ORPHA:449395
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Giant cell ... ORPHA:79095
Acquired Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Panniculitis, Proteinuria, Genera... ORPHA:79086
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Cirrhosis, Alopecia, Keratoconjunctivitis, Hepatitis, Chronic mucocutaneous candidiasis... OMIM:269200
Idiopathic Intracranial Hypertension
Lethargy, Obesity ORPHA:238624
Igg4-Related Retroperitoneal Fibrosis
Weight loss, Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epithelial necrosis,... ORPHA:49041
Isolated Complex I Deficiency
Failure to thrive, Proximal tubulopathy, Lethargy, Hepatomegaly ORPHA:2609
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Failure to thrive, Brittle hair, Hepatomegaly, Alopecia ORPHA:50812
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Mucopolysaccharidosis Type 7
Hepatitis, Mucopolysacchariduria, Splenomegaly ORPHA:584
Evans Syndrome
Jaundice, Lethargy ORPHA:1959
Zygomycosis
Endocarditis, Renal insufficiency, Enterocolitis, Infectious encephalitis, Hepatitis, Fasciitis, ... ORPHA:73263
Melioidosis
Septic arthritis, Prostatitis, Hepatitis, Liver abscess, Osteoarthritis, Cutaneous abscess, Foot ... ORPHA:31202
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Weight loss, Cachexia, Elevated hepatic transaminase, Macrovesicular hepatic steatosis ORPHA:298
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating alanine aminotransferase concentration, Increased hepatic echogenicity, Mode... OMIM:619525
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Abdominal obesity OMIM:615980
Mucopolysaccharidosis, Type Iiic
Synophrys, Hypertrichosis, Hirsutism, Hepatomegaly, Coarse hair, Splenomegaly, Heparan sulfate ex... OMIM:252930