Not currently registered for phenotyping at IMPC

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

Gene Summary

propionyl-Coenzyme A carboxylase, alpha polypeptide

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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 Pcca mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Pcca by orthology or direct annotation.

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

Disease Similarity of
Matching phenotypes Source
Methylmalonyl-Coa Epimerase Deficiency
Dehydration, Methylmalonic aciduria, Ketonuria OMIM:251120
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Renal steatosis, Impaired gl... OMIM:261680
Familial Renal Glucosuria
Renal tubular dysfunction, Glycosuria, Recurrent urinary tract infections, Nephropathy, Dehydration ORPHA:69076
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Ketonuria OMIM:616095
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration, Dicarboxylic aciduria, Ketotic hypoglycemia ORPHA:79159
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Glycosuria, Elevated hepatic transaminase, Postprandial hyperglycemia, Keto... ORPHA:2089
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Oligohydramnios, Renal hypoplasia, Ketonuria OMIM:619053
Congenital Disorder Of Glycosylation, Type Iir
Hypospadias, Hepatomegaly, Cutis laxa, Ascites, Micronodular cirrhosis, Decreased liver function,... OMIM:301045
Combined Malonic And Methylmalonic Aciduria
Dehydration, Methylmalonic aciduria OMIM:614265
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria, Ketonuria OMIM:618857
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Hyperglycemia, Edema, Oral aversion, Pallor, Dehydration, Ketonuria ORPHA:134
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Ethylmalonic aciduria, Hypoglycemia, Dicarboxylic aciduria, Increased urine alpha-ketoglutarate c... OMIM:619355
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Decreased liver function, Neonatal death, Myoglobinuria, Dehydration OMIM:602199
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia, Methylmalonic aciduria, Dicarboxylic aciduria, Elevated hepatic transaminase, Dehyd... ORPHA:289504
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Neonatal ... OMIM:263200
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia, Ketonuria OMIM:210200
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Polydipsia, Pelvic kidney, Glomerulome... ORPHA:93101
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Abnormality of the urinary system, Diabetic ketoacidosis, Hyperglycemia, Matur... ORPHA:99886
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Dehydration, Methylmalonic aciduria, Ketonuria OMIM:251110
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Hepatomegaly, Dehydration ORPHA:28
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Ketonuria, Lipid accumulation in hepatocytes, Edema, Recurrent hypoglycemia, Acute ... ORPHA:20
Chronic Hiccup
Dehydration, Abnormal eating behavior ORPHA:396
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Dehydration, Transient neonatal diabetes mellitus OMIM:601410
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Dehydration, Methylmalonic aciduria, Ketonuria OMIM:251100
Gilbert Syndrome
Dehydration, Jaundice OMIM:143500
Glutaric Acidemia Type 3
Glutaric aciduria, Ketonuria ORPHA:35706
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Renal steatosis, Hepatic failure OMIM:261650
Xfe Progeroid Syndrome
Ascites, Elevated hepatic transaminase, Dry skin, Proteinuria, Renal insufficiency OMIM:610965
Glutaric Acidemia I
Hepatomegaly, Glutaric aciduria, Hypoglycemia, Ketonuria OMIM:231670
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death, Hepatomegaly, Ketonuria, Lacticaciduria OMIM:619167
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Aciduria OMIM:617950
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:79087
Classic Mycosis Fungoides
Hepatomegaly, Edema, Erythema, Splenomegaly, Dry skin, Skin ulcer ORPHA:2584
Autism, Susceptibility To, 3
Ketonuria OMIM:608049
Acquired Ichthyosis
Dry skin, Erythema, Renal insufficiency ORPHA:454
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Dysphagia, Hypoglycemia, Elevated hepatic transaminase, Dehydration OMIM:618958
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Renal tubular dysfunction, Pancreatic hypoplasia, Hyperglycemia,... ORPHA:99885
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system, Decreased liver function, Hepatic steatosis, Elevat... OMIM:617093
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Hepatic steatosis, Increased level of methylsuccinic acid in urine, Ketoti... ORPHA:26792
Dry skin, Hepatic steatosis, Nephrotic range proteinuria, Elevated hepatic transaminase ORPHA:300536
Renal tubular dysfunction, Polydipsia, Renal insufficiency, Proteinuria, Type I diabetes mellitus... ORPHA:213
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Ketonuria OMIM:615751
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Lacticaciduria, Pancreatitis, Hepatic steatosis, Elevated circulating alanine amino... OMIM:619386
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia, Hyperglycinuria, Organic aciduria, Ketonuria OMIM:210210
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Dehydration, Distal renal tubular acidosis, Nephrocalcinosis OMIM:602722
Richards-Rundle Syndrome
Ketonuria ORPHA:1399
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Methylmalonic aciduria OMIM:613646
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin ORPHA:2271
Dibasic Amino Aciduria I
Argininuria, Dibasicaminoaciduria, Hyperlysinuria, Ornithinuria OMIM:222690
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... OMIM:619048
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin OMIM:617920
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Argininosuccinic ... OMIM:603471
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Dehydration OMIM:143880
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Nephrocalcinosis, Renal tubular acidosis, Cholestatic liver disease, Nephro... OMIM:208085
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin, Renal dysplasia OMIM:218650
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Enteric Anendocrinosis
Portal hypertension, Dehydration, Type I diabetes mellitus, Cholestatic liver disease ORPHA:83620
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Ascites, Cirrhosis, Cholestasis, Hepatic failure,... OMIM:617156
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Long penis, Insulin-resistant diabetes mellitus, Hyperglycemi... OMIM:262190
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased urinary copper concentration ORPHA:209919
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Tubulointerstitial nephritis, Methylmalonic aciduria, Pancreatitis, Stage 5 chronic... OMIM:251000
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... OMIM:220100
Central Diabetes Insipidus
Dehydration, Nocturia, Polydipsia ORPHA:178029
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Medium chain dicarboxylic aciduria, Hypoglycemia, Hepatic steatosis, Cerebral edema... OMIM:201450
Citrullinuria, Saccharopinuria, Hyperlysinuria, Histidinuria OMIM:268700
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Dehydration, Pancreatitis, Splenomegaly, Renal insufficiency ORPHA:79312
Ichthyosis Vulgaris
Dry skin OMIM:146700
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Hypoglycemia, Oral-pharyngeal dysphagia, Elevated hepatic transaminase, Ketonuria OMIM:616878
Dry skin, Increased level of hippuric acid in urine OMIM:261600
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Hypertonic dehydration, Glycosuria OMIM:606824
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericardial effusion, Ascites, Hepatic fibrosis, Elevated hepatic transaminase, Ede... OMIM:619487
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Proximal tubulopathy, Diabetes mellitus, Type I diabetes mellitus, Polyuria, Dehydr... OMIM:560000
Galactosemia Iii
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice OMIM:230350
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Dysphagia, Hypoglycemia, Elevated hepatic transaminase, Hypoglycemic seizures, Ketonuria ORPHA:480864
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria OMIM:614520
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Lamellar Ichthyosis
Dry skin, Dehydration, Lack of skin elasticity, Renal insufficiency ORPHA:313
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Palmoplantar scaling skin, Dry skin, Erythema, Scaling skin ORPHA:530838
Inflammatory Skin And Bowel Disease, Neonatal, 2
Edema, Dehydration OMIM:616069
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Hypoglycemia, Ascites, Depletio... OMIM:251880
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa... ORPHA:882
Hyperprolinemia, Type Ii
Prolinuria, Hydroxyprolinuria, Hyperglycinuria OMIM:239510
Dicarboxylic Aminoaciduria
Aminoaciduria, Fasting hypoglycemia, Nephrolithiasis, Aspartic aciduria OMIM:222730
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Hepatomegaly, Dehydration, Pancreatitis ORPHA:27
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ketonuria, Hypoglycemia, Methylmalonic aciduria, Hemolytic-uremic syndrome, Renal insufficiency, ... ORPHA:79282
Familial Cold Urticaria
Erythema, Dehydration, Polydipsia ORPHA:47045
Prolinuria, Hydroxyprolinuria, Hyperglycinuria OMIM:242600
Prolinuria, Hydroxyprolinuria, Hyperglycinuria ORPHA:42062
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Dry skin, Edema OMIM:612947
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Polydipsia, Abnor... ORPHA:2260
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Myoglobinuria, Hypoketotic hypoglycemia, Hepatic necrosis, Dicarboxyli... OMIM:231530
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Hepatomegaly, Renal cortical cysts, Generalized aminoaciduria, Hypoglycemi... OMIM:231680
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Palmoplantar Keratoderma And Congenital Alopecia 2
Dry skin, Facial erythema OMIM:212360
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Dysphagia, Organic aciduria OMIM:255100
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Peau d'orange, Elevated hepatic transaminase, Proximal tubulopathy, Splenomegaly, C... OMIM:614576
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli... ORPHA:79084
Netherton Syndrome
Hydronephrosis, Dry skin, Ectopic kidney, Aminoaciduria, Dehydration ORPHA:634
Hyperprolinemia Type 1
Prolinuria, Proteinuria, Nephropathy ORPHA:419
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Richards-Rundle Syndrome
Ketonuria OMIM:245100
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Mitochondrial Complex I Deficiency, Nuclear Type 35
Redundant neck skin, Nonimmune hydrops fetalis, Lacticaciduria, Elevated urinary 4-hydroxybutyric... OMIM:619003
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Portal fibrosis, Hepatic fibros... OMIM:619377
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Diabetes mellitus OMIM:610717
Riboflavin Deficiency
Hypoglycemia, Dicarboxylic aciduria OMIM:615026
Isovaleric Acidemia
Dehydration, Hyperglycinuria OMIM:243500
Peroxisome Biogenesis Disorder 14B
Dry skin, Urinary incontinence OMIM:614920
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin ORPHA:1184
Erythrokeratodermia Variabilis
Dry skin, Erythema, Diabetes mellitus ORPHA:317
Hemochromatosis Type 4
Congenital hepatic fibrosis, Hepatic steatosis, Joint swelling, Cirrhosis ORPHA:139491
Uv-Sensitive Syndrome 1
Dry skin OMIM:600630
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase OMIM:616829
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin, Abnormality of the ureter ORPHA:1035
Diarrhea 2, With Microvillus Atrophy
Dehydration OMIM:251850
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Pancreatitis, Increased level of hippuric acid in urine, Hyperglycinu... OMIM:606054
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Dysphagia, Elevated hepatic transaminase OMIM:264470
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Hypoglycemia, Renal sodium wasting, Bicarbonate-wasting renal tubular ... ORPHA:3337
Reticular Dysgenesis
Dehydration, Skin ulcer ORPHA:33355
Scorpion Envenomation
Hyperglycemia, Edema, Erythema, Glycosuria, Elevated circulating aspartate aminotransferase conce... ORPHA:466677
Dry skin OMIM:125640
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Cirrhosis, Hepatic steatosis, Diab... OMIM:606069
Wolcott-Rallison Syndrome
Hepatomegaly, Ascites, Chronic kidney disease, Abnormality of the liver, Renal insufficiency, Acu... ORPHA:1667
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Dry skin, Neurogenic bladder OMIM:618527
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Polydipsia, Nephrocalcinosis, Proximal tubulopathy, Decreased g... ORPHA:18
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Macrovesicular hepatic steatosis, Acute hepatic f... OMIM:613070
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, P... ORPHA:47159
Helix Syndrome
Polydipsia, Xerostomia, Nephrolithiasis, Hypocalciuria, Dry skin, Polyuria, Renal insufficiency OMIM:617671
Immunodeficiency 55
Dry skin OMIM:617827
Omenn Syndrome
Hepatomegaly, Nephrotic syndrome, Edema, Splenomegaly, Dry skin ORPHA:39041
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Type II diabetes mellitus, Insulin resistance OMIM:615703
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin, Cutis laxa OMIM:105250
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Elevated circulating aspartate aminotransferase concentra... OMIM:300555
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Hepatic failure, Hepatic steatosis OMIM:617872
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Ketonuria, Hepatic steatosis, Hepatosplenomegaly, Increased urinary glycerol, Chole... ORPHA:247598
Gracile Syndrome
Aminoaciduria, Cholestasis OMIM:603358
Bartter Syndrome, Type 3
Renal salt wasting, Dehydration, Increased urinary potassium, Hypocalciuria, Renal potassium wast... OMIM:607364
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Polydipsia, Proximal tubulopathy, Stage 5 chronic kidney disease, Glycosu... ORPHA:411634
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction, Hypoglycemia, Hyperinsulinemia OMIM:606528
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting, Dehydration OMIM:203400
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Diabetes mellitus OMIM:613877
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting, Dehydration OMIM:610600
Porphyria Cutanea Tarda
Elevated hepatic iron concentration, Elevated hepatic transaminase, Chronic hepatitis, Hepatocell... ORPHA:101330
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Dehydration OMIM:143860
Sjögren-Larsson Syndrome
Dry skin, Erythema ORPHA:816
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Dry skin, Type II diabetes mellitus, Hyperinsulinemia ORPHA:3085
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hydronephrosis, Hepatic fibrosis, Duplicated collecting system, Hepatic steatosis, Dermal translu... ORPHA:541423
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Huriez Syndrome
Dry skin, Lack of skin elasticity ORPHA:384
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Renal salt wasting, Dehydration OMIM:264350
Gracile Syndrome
Renal Fanconi syndrome, Elevated hepatic iron concentration, Cirrhosis, Hepatic steatosis, Choles... ORPHA:53693
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Glucose-Galactose Malabsorption
Renal insufficiency, Hematuria, Dehydration, Nephrolithiasis ORPHA:35710
Distal Trisomy 6P
Dry skin, Renal hypoplasia, Hydronephrosis, Abnormality of the urinary system ORPHA:1745
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Polydipsia, Abnormal tubulo... ORPHA:411629
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Organic aciduria ORPHA:35
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hepatic steatosis ORPHA:436182
Sézary Syndrome
Dry skin, Hepatomegaly, Edema, Splenomegaly ORPHA:3162
Cystinosis, Nephropathic
Hepatomegaly, Renal Fanconi syndrome, Generalized aminoaciduria, Dysphagia, Polydipsia, Nephrolit... OMIM:219800
Riddle Syndrome
Dry skin OMIM:611943
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly, Diabetes m... OMIM:612526
Grubben-De Cock-Borghgraef Syndrome
Dry skin ORPHA:2101
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Dicarboxylic aciduria, Decreased liver... ORPHA:42
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin OMIM:612952
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Hypertonic dehydration, Polyuria, Polydipsia OMIM:125800
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Acra... OMIM:256810
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Megacystis, Hypertonic dehydration, Polyuria, Polydipsia OMIM:304800
Familial Melanoma
Dry skin, Neoplasm of the pancreas ORPHA:618
3-Methylglutaconic Aciduria, Type V
Hypospadias, Microvesicular hepatic steatosis, Glutaric aciduria, 3-Methylglutaric aciduria OMIM:610198
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin-resistant diabetes mellitus at puberty, Hepatic fibrosis, Hyperinsulin... ORPHA:280356
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia, Organic aciduria OMIM:614741
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Increased level of hippuric acid in urine, 3-Methy... OMIM:246450
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Diabetes mellitus, Insulin resistance OMIM:615980
Scaling skin, Dry skin OMIM:257960
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatocellular necrosis, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hep... OMIM:201475
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypoglycemia, Dicarboxylic aciduria, Cerebral edema, Hepatic fa... OMIM:611126
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Dry skin, Prolonged neonatal jaundice ORPHA:95715
Microvillus Inclusion Disease
Abnormal renal physiology, Dehydration, Nephrocalcinosis ORPHA:2290
Agel Amyloidosis
Cutis laxa, Xerostomia, Edema, Stage 5 chronic kidney disease, Abnormal spleen morphology, Dry sk... ORPHA:85448
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Decreased liver function, Hepatic steatosis, Cholestasis, Elevated hepatic trans... OMIM:614300
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Dry skin, Horseshoe kidney, Micropenis OMIM:300860
Stimmler Syndrome
Aminoaciduria, Type II diabetes mellitus ORPHA:3199
Tiglic Acidemia
Aminoaciduria OMIM:275190
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Nephrogenic Diabetes Insipidus
Polydipsia, Hypernatremic dehydration, Enuresis nocturna, Polyhydramnios, Functional abnormality ... ORPHA:223
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Decreased li... OMIM:614922
Complex Regional Pain Syndrome
Edema of the upper limbs, Dry skin, Pedal edema, Erythema ORPHA:83452
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Pearson Syndrome
Hepatomegaly, Dysphagia, Corneal stromal edema, Macronodular cirrhosis, Lacticaciduria, Renal cys... ORPHA:699
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Myoglobinuria, Hypoketotic hypoglycemia, Red-brown urine, Hepatic steatosis, Hepati... ORPHA:228305
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hepatomegaly, Hypoglycemia, Nephrocalcinosis, Glycosuria, Diabetes mellitus, A... OMIM:616026
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin OMIM:614450
Recessive X-Linked Ichthyosis
Dry skin ORPHA:461
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Renal tubular acidosis, Hepatic steatosis, Elevated hepat... OMIM:255120
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Generalized aminoaciduria, Fasting hypoglycemia, Hepatocellular ... ORPHA:2088
Early-Onset Familial Hypoaldosteronism
Dehydration, Renal sodium wasting ORPHA:556030
Congenital Heart Defects And Ectodermal Dysplasia
Dry skin OMIM:617364
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Scaling skin, Dry skin, Cutis laxa ORPHA:2269
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Tubulointerstitial nephritis, Hepatic steatosis, Elevated circulating alanine amino... OMIM:614582
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Recurrent hypoglycemia, Hepatic s... OMIM:212140
Spinocerebellar Ataxia Type 34
Dry skin ORPHA:1955
Galactosemia I
Hepatomegaly, Aminoaciduria, Increased level of galactitol in urine, Cirrhosis, Decreased liver f... OMIM:230400
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin ORPHA:248
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin OMIM:617066
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria OMIM:617184
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Aminoaciduria, Jaundice ORPHA:33574
Microcephalic Primordial Dwarfism, Montreal Type
Dry skin ORPHA:2617
Tangier Disease
Dry skin, Hepatomegaly, Splenomegaly OMIM:205400
Aminoaciduria ORPHA:716
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine, Nocturia, Dehydration, Hyperinsulinemia ORPHA:230
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly ORPHA:369840
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Renal salt wasting, Hepatic fibrosis, Ascites, Fatal liver fail... ORPHA:275761
Wilson Disease
Hepatomegaly, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acute hepat... ORPHA:905
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Dry skin, Insulin-resistant diabetes mellitus, Elevated hepatic transaminase OMIM:268020
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Dry skin OMIM:129490
Autosomal Agammaglobulinemia
Hepatitis, Dehydration ORPHA:33110
Refsum Disease
Dry skin, Renal insufficiency, Splenomegaly ORPHA:773
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Fasting hypoglycemia, Portal fibrosis, Hepatic fibrosis, Hepatocellu... ORPHA:370
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Oligohydramnios, Scaling skin, Unilateral renal ag... OMIM:308205
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Insulin resistance, Hepatic steatosis, Lack of skin elasticity, Diabetes mellitus, ... OMIM:615381
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Splenomegaly, Cirrhosis, Hepatic ... OMIM:278000
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Abnormality of endocrine pancreas physiology, Horseshoe kidney, Renal Fanconi syndro... ORPHA:93111
Splenic abscess, Hypoglycemia, Peritonitis, Hemolytic-uremic syndrome, Urethritis, Acute kidney i... ORPHA:810
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Hepatic steatosis, Dysphagia ORPHA:70472
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia, Hepatic steatosis, Incre... ORPHA:348
Dry skin ORPHA:1660
Secondary Short Bowel Syndrome
Dehydration, Cholestasis, Polyphagia ORPHA:95427
Congenital Lethal Erythroderma
Dry skin ORPHA:1954
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia, Hepatic failure, Splenomegaly ORPHA:664
Xeroderma Pigmentosum Variant
Dry skin ORPHA:90342
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Dry skin, Erythema, Scaling skin OMIM:614457
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Dicarbo... ORPHA:71212
Thyroid Dyshormonogenesis 1
Dry skin OMIM:274400
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Cirrhosis, Hepatic steatosis, Hyperinsulinemia ORPHA:363400
Wilson Disease
Hepatomegaly, Hyperphosphaturia, Renal tubular dysfunction, Dysphagia, Aminoaciduria, Hepatocellu... OMIM:277900
Cranioectodermal Dysplasia 3
Cutis laxa, Nephronophthisis, Stage 5 chronic kidney disease, Cirrhosis, Dry skin OMIM:614099
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Renal Fanconi syndrome, Renal tubular dysfunction, Hyperphosphaturia, Glycosuria, D... ORPHA:436271
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Dry skin, Renal tubular acidosis ORPHA:79155
Abnormality of the urinary system, Hepatic steatosis, Megacystis ORPHA:977
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Dry skin, Hepatomegaly, Cholangitis, Jaundice OMIM:607626
Citrullinemia Type Ii
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Enuresis, Pancreatitis, Abnormal eating... ORPHA:247585
Dry skin, Hepatomegaly, Oligosacchariduria, Splenomegaly OMIM:230000
Bartter Syndrome, Type 2, Antenatal
Polydipsia, Nephrocalcinosis, Increased urinary potassium, Hyperprostaglandinuria, Polyhydramnios... OMIM:241200
Bachmann-Bupp Syndrome
Dry skin, Hypoglycemia, Polyhydramnios OMIM:619075
Abnormality of renal excretion, Decreased urine output, Hypoglycemia, Palmoplantar cutis laxa, Ac... ORPHA:173
Autoimmune Hepatitis
Ascites, Hepatocellular carcinoma, Fulminant hepatitis, Acute hepatitis, Splenomegaly, Diffuse he... ORPHA:2137
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Dry skin, Prolonged neonatal jaundice ORPHA:226313
Adrenal Hypoplasia, Congenital
Renal salt wasting, Dehydration OMIM:300200
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria ORPHA:79246
Bartter Syndrome, Type 1, Antenatal
Nephrocalcinosis, Increased urinary potassium, Hyperprostaglandinuria, Polyhydramnios, Hyperchlor... OMIM:601678
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly, Oligohydramnios OMIM:619013
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Fasting hypoglycemia, Portal fibrosis, Hepatic fibrosis, Hypoglycemi... ORPHA:264580
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoglycemia, Dicarboxylic aciduria, Neonatal hypoglycemia, Hepatic steatosis, Elev... OMIM:212138
Prolidase Deficiency
Hepatomegaly, Erythema, Recurrent cystitis, Splenomegaly, Dry skin, Skin ulcer ORPHA:742
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Organic aciduria ORPHA:6
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly OMIM:615438
Squalene Synthase Deficiency
Dry skin, Hypospadias OMIM:618156
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Pancreatitis, Hepatic ... OMIM:618805
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria, Renal insuffic... OMIM:134600
Dry skin OMIM:255900
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Septo-Optic Dysplasia Spectrum
Dry skin, Hypoplasia of penis, Polydipsia, Maternal diabetes ORPHA:3157
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Myoglobinuria, Tubulointerstitial ne... ORPHA:228308
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Dry skin, Scaling skin, Unilateral renal agenesis OMIM:618419
Trichodysplasia-Xeroderma Syndrome
Dry skin ORPHA:3361
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Polydipsia, Long penis, Nephrocalcinosis, Insulin-resistant diabetes mellit... ORPHA:769
Aminoaciduria, Renal tubular dysfunction OMIM:236800
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Hepatic calcification, Ureteral duplication, Hydronephrosis, Lipid accumulation in ... OMIM:608836
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Nonimmune hydrops fetalis, Pericardial effusion, Hepatic fibrosis, Nephrotic syndro... OMIM:212065
Ulerythema Ophryogenesis
Dry skin, Facial erythema ORPHA:3406
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... OMIM:618641
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin ORPHA:486815
Acyl-Coa Dehydrogenase 9 Deficiency
Dicarboxylic aciduria, Hepatic steatosis, Acute hepatic failure, Cerebral edema, Elevated hepatic... ORPHA:99901
Noonan Syndrome 13
Dry skin, Duplicated collecting system, Lymphedema OMIM:619087
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperglycemia, Cirrhosis, Hepatic steatos... OMIM:604367
9P13 Microdeletion Syndrome
Dry skin ORPHA:324313
Noonan Syndrome 5
Dry skin, Polyhydramnios OMIM:611553
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ethylmalonic aciduria, Microvesicular hepatic steatosis, Hepatomegaly, Bile duct proliferation, M... OMIM:203700
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Prolonged neonatal jaundice, Incre... OMIM:618892
Rhizomelic Chondrodysplasia Punctata
Dry skin ORPHA:177
Leopard Syndrome 2
Dry skin OMIM:611554
Radio-Tartaglia Syndrome
Dry skin, Dysphagia, Striae distensae OMIM:619312
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal cyst, Neonatal hypoglycemia, Hepatic steatosis, Elevated hepatic transami... ORPHA:445038
Fructose Intolerance, Hereditary
Hepatomegaly, Hyperphosphaturia, Hypoglycemia, Transient aminoaciduria, Proximal tubulopathy, Pro... OMIM:229600
Bone Marrow Failure Syndrome 4
Dry skin OMIM:618116
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Methylmalonic aciduria, Lacticaciduria, Neonatal death, Elevated circulating aspart... OMIM:245400
Oral Erosive Lichen
Dry skin, Erythema ORPHA:31142
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Dry skin, Vesicoureteral reflux OMIM:618797
Combined Oxidative Phosphorylation Deficiency 12
Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis OMIM:614924
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Elevated circulating alanine aminot... OMIM:615486
Congenital Disorder Of Glycosylation, Type If
Dry skin, Scaling skin OMIM:609180
Kanzaki Disease
Dry skin, Aminoaciduria, Increased urinary O-linked sialopeptides, Lymphedema OMIM:609242
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Dry skin OMIM:618535
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Hepatomegaly, Splenomegaly OMIM:617388
Generalized Pseudohypoaldosteronism Type 1
Dehydration, Cholelithiasis ORPHA:171876
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Renal Fanconi syndrome, Renal tubular dysfunction, Hyperphosphaturia, Increased hep... OMIM:220110
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Hepatic steatosis OMIM:300270
Neuroleptic Malignant Syndrome
Dysphagia, Myoglobinuria, Acute kidney injury, Urinary incontinence, Elevated hepatic transaminas... ORPHA:94093
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria OMIM:615605
Hepatomegaly, Ascites, Erythema, Neoplasm of the pancreas, Neoplasm of the liver, Extrahepatic ch... ORPHA:97282
Infantile Bartter Syndrome With Sensorineural Deafness
Nephrocalcinosis, Increased urinary potassium, Chronic kidney disease, Hyperprostaglandinuria, St... ORPHA:89938
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Cirrhosis, Hepatic steatos... ORPHA:79086
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Urinary bladder sphincter dysfunction ORPHA:52430
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal insufficiency OMIM:613388
Brown-Vialetto-Van Laere Syndrome 2
Dysphagia, Organic aciduria OMIM:614707
Koolen-De Vries Syndrome
Hypospadias, Ureteral duplication, Hydronephrosis, Renal duplication, Vesicoureteral reflux, Dry ... ORPHA:96169
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Aminoaciduria OMIM:612075
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Penoscrotal hypospadias, Neonatal hypoglycemia, Renal salt wasting, Dehydration ORPHA:90791
Trichothiodystrophy 6, Nonphotosensitive
Dry skin OMIM:616943
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep... ORPHA:209902
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Methioninuria, Hepatic steatosis, Homocystinuria, Pancreatitis OMIM:236200
Acute Adrenal Insufficiency
Renal salt wasting, Hypoglycemia, Decreased urinary potassium, Salt craving, Dry skin, Renal insu... ORPHA:95409
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Dry skin, Facial erythema OMIM:308800
Leopard Syndrome 3
Dry skin OMIM:613707
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Pancrea... ORPHA:79083
Cystic Fibrosis
Hepatomegaly, Pancreatitis, Cirrhosis, Hepatosplenomegaly, Exocrine pancreatic insufficiency, Bil... OMIM:219700
Uremic Pruritus
Dry skin, Chronic kidney disease, Stage 5 chronic kidney disease ORPHA:94059
19Q13.11 Microdeletion Syndrome
Dry skin, Hypospadias ORPHA:217346
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hydronephrosis, Hypoglycemia, Increased hepatic glycogen content, Elevated hepatic ... OMIM:614921
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Glycos... OMIM:300009
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Peritonitis, Anuria, Pancreatitis, Acute kidney injury, Dehydration ORPHA:90038
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria OMIM:619063
Pili Torti-Onychodysplasia Syndrome
Dry skin ORPHA:2890
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Dry skin, Hypoplasia of penis, Polyhydramnios ORPHA:1812
Harlequin Ichthyosis
Dehydration ORPHA:457
4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria ORPHA:2118
Syndromic Diarrhea
Hepatomegaly, Renal hypoplasia, Hepatic fibrosis, Hepatoblastoma, Splenomegaly, Cirrhosis, Abnorm... ORPHA:84064
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Insulin resistance, Pancreatitis, Splenomegaly, Hepatic steatosis, Diabetes mellitu... ORPHA:2348
Glutamate Formiminotransferase Deficiency
Aminoaciduria OMIM:229100
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Proteinuria OMIM:618913
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... OMIM:260000
Jung Syndrome
Dry skin ORPHA:2321
Congenital Tufting Enteropathy
Dehydration, Cholestatic liver disease ORPHA:92050
Chromosome 19Q13.11 Deletion Syndrome, Distal
Dry skin, Hypospadias OMIM:613026
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Lacticaciduria, Hyperglycemia, Dehydration ORPHA:3008
Tyrosinemia, Type Iii
Abnormality of the liver, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria OMIM:276710
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Hepatomegaly, Dysphagia, Hypoglycemia, Lacticaciduria, Glutaric aciduria, ... ORPHA:26791
Dry skin, Elevated hepatic transaminase ORPHA:280071
Akt2-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatomegaly, Insulin resistance, Hepatic steatosis ORPHA:79085
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Tubulointerstitial nephritis, Insulin-resistant diabetes ... OMIM:203800
Adiposis Dolorosa
Xerostomia, Dry skin ORPHA:36397
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Congenital Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Cirrhosis, Hepatic steatosis, Diabetes mellitus, Hyperinsulinemia ORPHA:528
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid dro... OMIM:220111
Kohlschutter-Tonz Syndrome-Like
Dry skin, Recurrent urinary tract infections, Dysphagia, Oligohydramnios OMIM:619229
Primary Pigmented Nodular Adrenocortical Disease
Increased urinary cortisol level, Type II diabetes mellitus, Glucose intolerance, Nephrolithiasis... ORPHA:189439
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... ORPHA:567983
Autosomal Dominant Hypocalcemia
Dry skin, Hypercalciuria, Hypermagnesiuria, Nephrocalcinosis ORPHA:428
Seckel Syndrome 10
Insulin resistance, Glucose intolerance, Impaired glucose tolerance, Glycosuria, Hepatic steatosi... OMIM:617253
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Macrovesicular hepatic steatosis, Hepatomegaly, Hypoketotic hypoglycemia, Elevated hepatic transa... OMIM:600649
Severe Generalized Junctional Epidermolysis Bullosa
Ureteral obstruction, Hydronephrosis, Urinary retention, Aplasia/Hypoplasia of the bladder, Edema... ORPHA:79404
Resistance To Thyrotropin-Releasing Hormone Syndrome
Dry skin, Prolonged neonatal jaundice ORPHA:99832
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cholangitis, Tubulointerstitial nephritis, Hypoglycemia, Decrea... OMIM:124000
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Dry skin, Abnormal penis morphology ORPHA:457059
Pearson Marrow-Pancreas Syndrome
Renal Fanconi syndrome, Diabetes mellitus, Type I diabetes mellitus, 3-Methylglutaric aciduria, P... OMIM:557000
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Hypernatriuria, Urogenital sinus anomaly, Neonatal hypoglycemia, Abnormal u... ORPHA:168558
Amelo-Onycho-Hypohidrotic Syndrome
Dry skin ORPHA:1028
Immunodeficiency 47
Hepatomegaly, Cutis laxa, Hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly, Cirrhosi... OMIM:300972
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Hypernatriuria, Urogenital sinus anomaly, Neonatal hypoglycemia, Abnormal u... ORPHA:289548
Hypohidrotic Ectodermal Dysplasia
Xerostomia, Dry skin, Nephrotic syndrome ORPHA:238468
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Increased urinary cortisol level, Renal cell carcinoma, Glucose intolerance, Nephrolithiasis, Str... ORPHA:189427
Cholangitis, Abnormality of the spleen, Peritonitis, Hepatitis, Nephritis, Pancreatitis, Urethrit... ORPHA:2552
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Dysphagia, Macrovesicular hepatic steatosis, Elevated hepatic transaminase ORPHA:298
Colchicine Poisoning
Renal insufficiency, Oliguria, Dehydration ORPHA:31824
Cardiofaciocutaneous Syndrome
Hydronephrosis, Excessive wrinkled skin, Dry skin, Redundant skin, Lymphedema ORPHA:1340
Sheehan Syndrome
Dry skin, Pallor, Hypoglycemia, Hyposthenuria ORPHA:91355
Ichthyosis, Congenital, Autosomal Recessive 6
Scaling skin, Dry skin OMIM:612281
Oculocerebrorenal Syndrome Of Lowe
Nephrocalcinosis, Hematuria, Nephrolithiasis, Proximal renal tubular acidosis, Oligosacchariduria... ORPHA:534
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
Barth Syndrome
3-Methylglutaconic aciduria, Organic aciduria OMIM:302060
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Arima Syndrome
Renal tubular atrophy, Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Tubulointerstitial fibro... OMIM:243910
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neph... OMIM:617303
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatosplenomegaly, Elevated hepatic transaminase ORPHA:79322
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:435651
Primary Lipodystrophy
Type II diabetes mellitus, Insulin resistance, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic ste... ORPHA:90970
Addison Disease
Renal salt wasting, Hypoglycemia, Decreased urinary potassium, Salt craving, Type I diabetes mell... ORPHA:85138
Alternating Hemiplegia Of Childhood
Oral-pharyngeal dysphagia, Dysphagia, Pallor, Dehydration ORPHA:2131
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Polyphagia, Insulin-resistant diabetes mellitus at puberty, Nephrolithiasis, Spleno... OMIM:608594
Orofaciodigital Syndrome Type 1
Hydronephrosis, Pancreatic cysts, Elevated hepatic transaminase, Abnormality of the pancreas, Mul... ORPHA:2750
Juvenile Dermatomyositis
Dysphagia, Erythema, Palpebral edema, Dry skin, Skin ulcer ORPHA:93672
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Dysphagia, Insulin resistance, Splenomegaly, Hepatic steatosis, Elevated hepatic tr... OMIM:613327
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria OMIM:609560
Diarrhea 1, Secretory Chloride, Congenital
Dehydration, Polyhydramnios OMIM:214700
Koolen-De Vries Syndrome
Dry skin, Recurrent urinary tract infections, Hydronephrosis, Vesicoureteral reflux OMIM:610443
Ameloonychohypohidrotic Syndrome
Dry skin OMIM:104570
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Neonatal hypoglycemia, Elevated hepatic transaminase, 3-Methylg... ORPHA:66634
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Hepatomegaly, Aminoaciduria, Polydipsia, Splenomegaly, Hypercalciuria, Polyuria OMIM:239200
Blau Syndrome
Xerostomia, Clear cell renal cell carcinoma, Erythema, Stage 5 chronic kidney disease, Splenomega... ORPHA:90340
Late-Onset Isolated Acth Deficiency
Dry skin, Hepatitis, Hypoglycemia, Type I diabetes mellitus ORPHA:199299
Hepatomegaly, Oroticaciduria, Portal fibrosis, Micronodular cirrhosis, Diaminoaciduria, Cholestasis OMIM:207800
Primary Sjögren Syndrome
Chronic active hepatitis, Tubulointerstitial nephritis, Glomerulonephritis, Xerostomia, Abnormali... ORPHA:289390
D-Bifunctional Protein Deficiency
Fetal ascites, Hepatomegaly, Bile duct proliferation, Renal cyst, Polyhydramnios, Splenomegaly, H... OMIM:261515
Lipe-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatic steatosis, Hepatomegaly, Insulin resistance ORPHA:435660
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Polyphagia, Insulin-resistant diabetes mellitus at puberty, Nephrolithiasis, Spleno... OMIM:269700
Hereditary Orotic Aciduria
Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria, Splenomegaly, Aminoaciduria ORPHA:30
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypospadias, Insulin-resistant diabetes mellitus, Neoplasm of the pancreas, Hepatic steatosis, Mi... ORPHA:2959
Methionine Malabsorption Syndrome
Aminoaciduria OMIM:250900
Amish Lethal Microcephaly
Hepatomegaly, Organic aciduria ORPHA:99742
Popov-Chang syndrome
Dry skin OMIM:618428
Cockayne Syndrome A
Hepatomegaly, Splenomegaly, Micropenis, Dry skin, Proteinuria, Renal insufficiency OMIM:216400
Isolated Thyroid-Stimulating Hormone Deficiency
Dry skin, Prolonged neonatal jaundice, Facial edema ORPHA:90674
Rowley-Rosenberg Syndrome
Aminoaciduria OMIM:268500
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria OMIM:614946
X-Linked Intellectual Disability, Nascimento Type
Hypospadias, Micropenis, Oligohydramnios, Vesicoureteral reflux, Dry skin ORPHA:163956
Eec Syndrome
Hypospadias, Hydronephrosis, Xerostomia, Urethral atresia, Renal hypoplasia/aplasia, Vesicoureter... ORPHA:1896
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets ORPHA:71
Dend Syndrome
Hyperglycemia, Dehydration ORPHA:79134
Primary Hyperoxaluria
Nephrocalcinosis, Hyperoxaluria, Chronic kidney disease, Calcium oxalate nephrolithiasis, Hematur... ORPHA:416
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Prolonged neonatal jaundice, Renal cyst, Stillbirth, Micropenis, Oligohydramnio... OMIM:210710
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Biliary hyperplasia, Aminoacidu... OMIM:210550
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Xerostomia, Periorbital wrinkles, Dry skin OMIM:614941
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreased liver function... OMIM:618329
19P13.12 Microdeletion Syndrome
Hypospadias, Hepatic steatosis ORPHA:254346
Cockayne Syndrome B
Hepatomegaly, Splenomegaly, Micropenis, Dry skin, Proteinuria, Renal insufficiency OMIM:133540
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Dry skin OMIM:600906
Mitochondrial Dna Depletion Syndrome 18
Lacticaciduria OMIM:618811
Acrodermatitis Enteropathica
Dry skin, Erythema, Skin ulcer ORPHA:37
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content, Nephroc... ORPHA:79259
Menkes Disease
Dry skin, Hypoglycemia, Prolonged neonatal jaundice, Bladder diverticulum ORPHA:565
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Macronodular cirrhosis, Splenomegal... OMIM:619418
Hajdu-Cheney Syndrome
Hypospadias, Hepatomegaly, Splenomegaly, Multiple renal cysts, Dry skin, Skin ulcer ORPHA:955
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Dry skin OMIM:614940
Trichothiodystrophy 1, Photosensitive
Dry skin OMIM:601675
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Oligohydramnios, Dehydration, Neonatal insulin-dependent diabetes mellitus ORPHA:96191
Argininosuccinic Aciduria
Hepatomegaly, Oroticaciduria, Hepatic fibrosis, Elevated circulating aspartate aminotransferase c... OMIM:207900
Naegeli-Franceschetti-Jadassohn Syndrome
Dry skin ORPHA:69087
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Ethylmalonic aciduria, Hepatomegaly, Hypospadias, Hypoglycemia, Methylmalonic aciduria, Hepatic s... ORPHA:17
Arthrogryposis And Ectodermal Dysplasia
Dry skin, Diabetes mellitus OMIM:601701
Citrullinemia, Classic
Cirrhosis, Hepatomegaly, Cerebral edema, Oroticaciduria OMIM:215700
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Dry skin ORPHA:2637
Dry skin OMIM:190360
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Lymphedema, Edema, Scaling skin, Dry skin, Pleural effusion, Skin ulcer, Chylothorax ORPHA:2526
Marburg Hemorrhagic Fever
Hypoglycemia, Petechiae, Pancreatitis, Renal insufficiency, Elevated hepatic transaminase, Dehydr... ORPHA:99826
21Q22.11Q22.12 Microdeletion Syndrome
Dry skin ORPHA:261323
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Intrahepatic biliary dysgenesis, Polycystic kidney dysplasia, Palpebral edema, Amin... OMIM:214110
Sialidosis Type 1
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialo... ORPHA:812
Dubowitz Syndrome
Dry skin, Hydronephrosis, Hypospadias ORPHA:235
Odontoonychodermal Dysplasia
Dry skin, Erythema OMIM:257980
Lysinuric Protein Intolerance
Hepatomegaly, Tubulointerstitial nephritis, Oroticaciduria, Argininuria, Ornithinuria, Decreased ... ORPHA:470
Aicardi-Goutières Syndrome
Prolonged neonatal jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Micropenis, Diabe... ORPHA:51
Xeroderma Pigmentosum
Dry skin, Aminoaciduria, Erythema ORPHA:910
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria ORPHA:1933
D-Lactic Aciduria With Gout
Lacticaciduria OMIM:245450
Fumarase Deficiency
Aminoaciduria, Pallor, Cholestasis, Hepatic failure OMIM:606812
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Dicarboxylic aciduria, Oliguria, He... ORPHA:159
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Diabetes mellitus OMIM:249270
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Renal tubular acidosis, Pancreatitis, Organic aciduria ORPHA:431361
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dry skin, Accessory spleen OMIM:619306
Visceral Steatosis, Congenital
Hypoglycemia, Neonatal death, Hepatic steatosis, Renal steatosis, Jaundice OMIM:228100
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Elevated urinary epinephrine, Long penis, Hypernatriuria, Urogenital sinus anomaly, Neonatal hypo... ORPHA:90794
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Fetal ascites, Dysphagia, Cutis laxa, Urinary urgency, Pelvic kidney, Erythema, Unilateral renal ... OMIM:619503
Leigh Syndrome
Ethylmalonic aciduria, Dysphagia, Generalized aminoaciduria, Renal tubular dysfunction, Hypoglyce... ORPHA:506
Exercise-Induced Malignant Hyperthermia
Decreased liver function, Acute kidney injury, Oliguria, Hepatic failure, Dry skin ORPHA:466650
Chand Syndrome
Dry skin, Hydroureter ORPHA:1401
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Hepatomegaly, Increased hepatic echogenicity, Elevated hepatic transaminase... OMIM:619525
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Aminoaciduria, Dysphagia, Hydronephrosis OMIM:617913
Dry skin ORPHA:33364
Hepatomegaly, Hepatic steatosis, Renal steatosis, Acute pancreatitis, Diabetes mellitus ORPHA:412
Adult Syndrome
Dry skin, Skin ulcer ORPHA:978
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Multiple Carboxylase Deficiency
Organic aciduria ORPHA:148
Barber-Say Syndrome
Dry skin, Redundant skin OMIM:209885
Monosomy 13Q34
Hepatic steatosis, Fetal pyelectasis, Insulin resistance ORPHA:96168
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly ORPHA:98907
Ablepharon Macrostomia Syndrome
Excessive wrinkled skin, Dry skin, Redundant skin, Hypoplasia of penis ORPHA:920
Netherton Syndrome
Hypernatremic dehydration, Angioedema OMIM:256500
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Insulin resistance, Pancreatitis, Splenomegaly, Hepatic steatosis, Diabetes mellitus ORPHA:280365
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Ascites, Bile duct proliferation, Anasarca, Cirrhosis, Hepatic steatosis, Decreased... OMIM:613658
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Ascites, Anasarca, Hepatic steatosis, Elevated circulating alanine aminotransferase... OMIM:619573
Anhidrosis, Familial Generalized, With Abnormal Or Absent Sweat Glands
Dry skin OMIM:206600
Edema, Erythema, Dry skin, Periorbital edema, Skin ulcer ORPHA:221
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Atopic Keratoconjunctivitis
Dry skin ORPHA:163934
Hallermann-Streiff Syndrome
Dry skin OMIM:234100
Bartsocas-Papas Syndrome 1
Dry skin, Ectopic kidney, Micropenis OMIM:263650
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Diabetes mellitus, Pancreatic fibrosis OMIM:616263
Dyskeratosis Congenita, Autosomal Dominant 3
Dry skin OMIM:613990
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Hepatomegaly, Hydronephrosis, Redundant neck skin, Intrahepatic biliary dysgenesis, ... OMIM:214100
Multiple Endocrine Neoplasia Type 1
Insulinoma, Neoplasm of the pancreas, Nephrolithiasis, Hypercalciuria, Dehydration ORPHA:652
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Dry skin ORPHA:220295
Tooth Agenesis, Selective, 4
Dry skin OMIM:150400
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Microvesicular hepatic steatosis, Generalized aminoaciduria, Impaired oral bolus fo... ORPHA:404454
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Hepatic steatosis, Acute pancre... OMIM:151660
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria ORPHA:23
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Adult Syndrome
Dry skin OMIM:103285
Tangier Disease
Dry skin, Hepatosplenomegaly ORPHA:31150
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Dry skin, Scaling skin, Facial erythema ORPHA:1010
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome