Gene: Pcca MGI:97499

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

propionyl-Coenzyme A carboxylase, alpha polypeptide

Synonyms:

C79630

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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.

Human diseases associated with Pcca (2 diseases)
Human diseases predicted to be associated with Pcca (570 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Propionic Acidemia		Hepatomegaly, Hypoglycemia, Pancreatitis, Increased level of hippuric acid in urine, Hyperglycinu...	OMIM:606054
Propionic Acidemia		Hepatomegaly, Hypoglycemia, Organic aciduria	ORPHA:35

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

Disease	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
Ddost-Cdg	Dry skin, Hepatic steatosis, Nephrotic range proteinuria, Elevated hepatic transaminase	ORPHA:300536
Cystinosis	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
Cystinuria	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
Saccharopinuria	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
Phenylketonuria	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
Iminoglycinuria	Prolinuria, Hydroxyprolinuria, Hyperglycinuria	OMIM:242600
Iminoglycinuria	Prolinuria, Hydroxyprolinuria, Hyperglycinuria	ORPHA:42062
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance	Dry skin, Edema	OMIM:612947
Oligomeganephronia	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
Dermoodontodysplasia	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
Oculotrichodysplasia	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
Phenylketonuria	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
Shigellosis	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
Dermoodontodysplasia	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
Hydroxykynureninuria	Dry skin, Renal tubular acidosis	ORPHA:79155
Adrenomyodystrophy	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
Fucosidosis	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
Cholera	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
Myxedema	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
Hydroxykynureninuria	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
Harderoporphyria	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
Adrenomyodystrophy	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
Vipoma	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
Hawkinsinuria	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
Alg11-Cdg	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
Microsporidiosis	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
Dpm1-Cdg	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
Argininemia	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
Trichodysplasia-Xeroderma	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
Trichothiodystrophy	Dry skin	ORPHA:33364
Dysbetalipoproteinemia	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
Dermatomyositis	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

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