Gene Summary

Name:
FANCD2/FANCI-associated nuclease 1
Synonyms:
6030441H18Rik,  Mtmr15

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (2 of 4)
Testis  Section images heterozygote 50% (2 of 4)
Vas deferens  Section images heterozygote 50% (2 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 50% (2 of 4)
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 25% (1 of 4)
Diaphragm N/A heterozygote 0.0% (0 of 4)
Duodenum N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Harderian gland N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 25% (1 of 4)
Jejunum N/A heterozygote 25% (1 of 4)
Kidney N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 50% (2 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Midbrain N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Penis N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 50% (2 of 4)
Spinal cord N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 25% (1 of 4)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Tongue N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Urinary bladder N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Section

5 Images

Human diseases caused by Fan1 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 Fan1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Lynch Syndrome
Weight loss ORPHA:144

The table below shows human diseases predicted to be associated to Fan1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Nephrotic Syndrome, Type 6
Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm... OMIM:614196
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Dehydration, Nephroc... OMIM:143880
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Failure to thrive, Hyperammonemia, Dehydration ORPHA:28
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... OMIM:602088
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Methylmalonic aciduria, Dehydration OMIM:614265
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, D... OMIM:251000
Glycogen Storage Disease Iv
Failure to thrive, Polyhydramnios, Edema, Hydrops fetalis, Ascites, Tubulointerstitial fibrosis OMIM:232500
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Dehydration, Decreased c... ORPHA:79159
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Dehydration, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failur... OMIM:602722
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... OMIM:301045
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Dehydration, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic ac... OMIM:251120
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... OMIM:618913
Central Diabetes Insipidus
Hyponatremia, Dehydration, Weight loss, Failure to thrive, Nocturia ORPHA:178029
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Pustule, Myocarditis, Angioedema, Hepatitis, Thyroiditis, Weight ... ORPHA:139402
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Interstitial Pneumonitis, Desquamative, Familial
Failure to thrive, Tubulointerstitial fibrosis OMIM:263000
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s... OMIM:616829
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Edema, ... OMIM:602522
Glucose-Galactose Malabsorption
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Dehydration, Weight loss,... ORPHA:35710
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Dehydration OMIM:601410
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis OMIM:270150
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Obesity OMIM:616629
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Methylmalonic aciduria, Deh... ORPHA:289504
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... ORPHA:103910
Combined Oxidative Phosphorylation Deficiency 46
Decreased liver function OMIM:618952
Peroxisome Biogenesis Disorder 6A (Zellweger)
Feeding difficulties in infancy, Hepatomegaly, Decreased liver function, Renal cyst OMIM:614870
Combined Oxidative Phosphorylation Deficiency 9
Hyperalaninemia, Tubulointerstitial nephritis, Failure to thrive OMIM:614582
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive OMIM:612075
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... ORPHA:2260
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure OMIM:143500
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Poor appetite, Jaundice, Fulminant hepatitis, Hepati... OMIM:618549
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Dehydration, Abnormality of the urinary sys... ORPHA:99886
Combined Oxidative Phosphorylation Deficiency 30
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:616974
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level, F... OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level, F... OMIM:203400
Galactose Mutarotase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Decreased liver... ORPHA:570422
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614376
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Peroxisome Biogenesis Disorder 7B
Decreased liver function OMIM:614873
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... OMIM:617595
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure ORPHA:60
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... OMIM:263200
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Hyperammonemia, Dehydration, Failure to thrive, Pancreatitis ORPHA:79312
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Diencephalic Syndrome
Long penis, Cachexia, Decreased body weight ORPHA:1672
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Predo... ORPHA:33001
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration, Failure to thrive OMIM:616069
Reticular Dysgenesis
Skin rash, Dehydration, Weight loss, Chronic otitis media, Failure to thrive ORPHA:33355
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Multicentric Reticulohistiocytosis
Arthritis, Cachexia ORPHA:139436
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... OMIM:616828
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619232
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... OMIM:162000
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... ORPHA:37042
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... OMIM:613845
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... ORPHA:228308
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D... ORPHA:49041
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Failure to thrive OMIM:264350
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Majeed Syndrome
Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Edema, Ca... ORPHA:77297
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res... ORPHA:183
Alstrom Syndrome
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Chronic activ... OMIM:203800
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Small for gestational age, Conjugated hyperbilirubinemia, Dehydration, Neph... OMIM:208085
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis, Green urine OMIM:614156
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Dehydration, Renal tubular dysfuncti... ORPHA:69076
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatic fibrosis, Vomiting, Elevated gamma-glutamyltransferase level, Hepa... OMIM:278000
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ... ORPHA:488627
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Diarrhea, Cirrhosis, Hepatic failure ORPHA:75234
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... ORPHA:470
Galactosemia I
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c... OMIM:230400
Cholestasis, Progressive Familial Intrahepatic, 4
Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure OMIM:615878
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Feeding difficulties OMIM:246900
Cystinosis
Renal insufficiency, Proteinuria, Dehydration, Renal tubular dysfunction, Aminoaciduria, Hypokale... ORPHA:213
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Renal interstitial edema, Sterile pyuria, ... ORPHA:91500
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Renal sodium wasting,... ORPHA:556030
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Pancreatitis, Hyperammonemia, Dehydration ORPHA:27
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration, Glycosuria OMIM:606824
Mulibrey Nanism
Cachexia ORPHA:2576
Hyperchlorhidrosis, Isolated
Hyponatremia, Hypernatremic dehydration, Failure to thrive, Hyperkalemia OMIM:143860
Juvenile Nephropathic Cystinosis
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri... ORPHA:411634
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Chronic kidney disease, Elevated circulating ... ORPHA:340
Intermediate Uveitis
Anterior uveitis, Psoriasiform dermatitis, Macular edema, Tubulointerstitial nephritis, Optic neu... ORPHA:279914
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Pustule, Hyperkalemia, Atopic dermatit... ORPHA:171876
Hemochromatosis, Neonatal
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... OMIM:231100
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Cachexia, Proteinuria, Polyhydramnios ORPHA:2774
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Diarrhea, Spleno... OMIM:235555
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia OMIM:618093
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties... OMIM:613489
Propionic Acidemia
Increased level of hippuric acid in urine, Eczema, Hyperglycinuria, Hyperammonemia, Dehydration, ... OMIM:606054
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Dehydr... OMIM:212140
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Lead Poisoning
Decreased HDL cholesterol concentration, Skin rash, Small for gestational age, Chronic kidney dis... ORPHA:330015
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Congenital Disorder Of Glycosylation, Type Ir
Chronic constipation, Gastroesophageal reflux, Decreased liver function OMIM:614507
Idiopathic Achalasia
Decreased prealbumin level, Recurrent aspiration pneumonia, Weight loss ORPHA:930
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Dehydr... ORPHA:33110
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria ORPHA:1933
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Decreased liver function, Hepatic cysts OMIM:600666
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... ORPHA:79319
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Decreased liver function ORPHA:67048
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Lacticaciduria, Alaninuria, Decreased liver function, Hyperglutami... OMIM:616299
Moynahan Syndrome
Cachexia ORPHA:2574
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... ORPHA:411629
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Proximal tubulopathy, Polyuria, Dehydration OMIM:560000
Bartter Syndrome Type 4
Hyponatremia, Failure to thrive, Small for gestational age, Polyhydramnios, Renal salt wasting, I... ORPHA:89938
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated circulating creatine kina... ORPHA:42
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Peroxisome Biogenesis Disorder 11A (Zellweger)
Elevated hepatic transaminase, Multiple renal cysts, Decreased liver function, Renal cyst OMIM:614883
Wolcott-Rallison Syndrome
Hyponatremia, Renal insufficiency, Chronic kidney disease, Hyperammonemia, Dehydration, Hypoalbum... ORPHA:1667
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Failure to thrive OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Failure to thrive OMIM:304800
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Dehydration, Hyperglyc... OMIM:251110
Uremic Pruritus
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... ORPHA:94059
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney ORPHA:459061
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Gastroesophageal reflux, Decreased liver f... ORPHA:70472
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Hepatic failure, Cirrhosis, Portal hypertension OMIM:210050
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Episodic vomiting, Decreased liver function, Poor suck OMIM:615160
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur... ORPHA:251004
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Dehydration OMIM:602199
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Dehydration OMIM:618958
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Ketonuria, Hyperammonemia, Dehydration OMIM:615453
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency, Fatal liver failure in infancy ORPHA:254857
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri... OMIM:613070
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Failure to thrive OMIM:177735
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia, Renal hypoplasia/aplasia ORPHA:1438
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis ORPHA:79278
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hyperammonemia, ... OMIM:251100
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic kidney diseas... ORPHA:79259
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Babesiosis
Nausea and vomiting, Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Jaundice, Hepatic... ORPHA:108
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ... OMIM:601678
Adrenal Hypoplasia, Congenital
Hyponatremia, Failure to thrive, Dehydration, Renal salt wasting OMIM:300200
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Failure to thrive, Polyhydramnios, F... ORPHA:223
Isovaleric Acidemia
Hyperglycinuria, Dehydration OMIM:243500
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration OMIM:620126
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... ORPHA:30391
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology, Dehydration ORPHA:2290
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... OMIM:274150
Lamellar Ichthyosis
Chronic otitis media, Renal insufficiency, Dehydration, Erythroderma ORPHA:313
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Elevate... ORPHA:131
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hepatic failure ORPHA:664
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... ORPHA:18
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration OMIM:620125
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Protein avoidance, Decreased liver function, Acute hepatitis, Episodic vomiting, Ho... OMIM:238970
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Decreased liver function ORPHA:512260
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux, Dehydration, Weight loss, Hypokalemia, Increased ser... OMIM:619377
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, F... ORPHA:2394
Netherton Syndrome
Skin rash, Eczema, Ectopic kidney, Dehydration, Aminoaciduria, Erythroderma, Hydronephrosis ORPHA:634
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79239
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Pericardial effusion, Hypomagnese... ORPHA:358
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Recurrent pneumonia, Small for gestational age, Dehydration OMIM:214150
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Beta-Ketothiolase Deficiency
Ketonuria, Edema, Dehydration, Hyperammonemia, Weight loss, Hyperuricemia ORPHA:134
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Elevated circulating aspartate aminotransferase concentration, A... ORPHA:2088
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... OMIM:617093
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Portal hypertension, Anorexia, Abdominal pain, Hypersplenism, Diarrh... ORPHA:98850
Familial Cold Urticaria
Arthritis, Conjunctivitis, Dehydration ORPHA:47045
Secondary Short Bowel Syndrome
Low plasma citrulline, Enterocolitis, Abnormal blood ion concentration, Dehydration, Weight loss,... ORPHA:95427
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Dehydration, Rhin... ORPHA:230
Alg1-Cdg
Nephrotic syndrome, Renal insufficiency, Chronic diarrhea, Decreased liver function ORPHA:79327
Combined Oxidative Phosphorylation Deficiency 1
Fulminant hepatic failure, Hepatomegaly, Cholestasis, Feeding difficulties OMIM:609060
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abdominal pain, Biliary hyperpl... ORPHA:567983
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Tuberculosis
Weight loss ORPHA:3389
Idiopathic Bronchiectasis
Acute infectious pneumonia, Bronchiectasis, Cachexia ORPHA:60033
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Dehydration, Abnormality of the urinary system p... ORPHA:2552
Renpenning Syndrome
Hypospadias, Cachexia ORPHA:3242
Immunodeficiency 56
Cholangitis, Chronic diarrhea, Panhypogammaglobulinemia, Cirrhosis, Chronic hepatitis due to cryp... OMIM:615207
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Decreased l... ORPHA:367
Cystinosis, Nephropathic
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophospha... OMIM:219800
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Feeding diffic... ORPHA:263501
Mcdonough Syndrome
Cachexia ORPHA:2471
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Polyhydramnios, Dehydration, Hypochloremia, Hypokalemia, Increased circulating reni... OMIM:214700
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Abdominal distention, Diarrhea, Cholestasis, Vomiting, Decreased li... OMIM:608104
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Shigellosis
Hyponatremia, Failure to thrive in infancy, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Pe... ORPHA:810
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Hepatomegaly, Portal hype... ORPHA:480520
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis... OMIM:615630
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Diarrhea, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Vomiting, Cirrhosis, ... OMIM:602579
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... ORPHA:90068
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Joint swelling, Recurrent sinusitis, Rheumatoid arthritis, Recurrent otitis media, Juv... OMIM:607944
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reye syndrome-like episodes, Glu... ORPHA:26791
Cholera
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Dehydration, Hypo... ORPHA:173
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Polyhydramnios, Renal salt wasting,... OMIM:241200
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss ORPHA:141152
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec... OMIM:154230
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Dysgammaglobulinemia, Reduced natural killer cell activity, Splenomegaly, Fulminant... OMIM:308240
Systemic Capillary Leak Syndrome
Renal insufficiency, Pericarditis, Pulmonary edema, Myocarditis, Oliguria, Pedal edema, Weight lo... ORPHA:188
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Feeding difficulties in infancy... OMIM:251880
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Myocarditis, Oliguria, Abnormal blood ion concentration, Hypop... ORPHA:31824
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucocutaneous candidiasis, Tubu... ORPHA:227990
Intestinal Dysmotility Syndrome
Failure to thrive, Polyhydramnios, Weight loss OMIM:620045
Xfe Progeroid Syndrome
Renal insufficiency, Failure to thrive, Proteinuria, Cachexia, Hypoalbuminemia, Ascites OMIM:610965
Christianson Syndrome
Cachexia ORPHA:85278
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss ORPHA:79238
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:615438
Wolman Disease
Nausea and vomiting, Hepatomegaly, Abdominal distention, Splenomegaly, Malnutrition, Hepatic failure ORPHA:75233
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss ORPHA:1979
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Elevated circulating alanine aminotransferase concentration, Increased h... OMIM:261680
N Syndrome
Cryptorchidism, Abnormality of chromosome stability, Hypospadias OMIM:310465
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Red-brown urine, Episodic abdominal pain, Reduced ca... ORPHA:228305
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucocutaneous candidiasis, Tubu... ORPHA:227982
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration OMIM:615237
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Hepatic failure ORPHA:261519
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Developmental And Epileptic Encephalopathy 75
Feeding difficulties in infancy, Decreased liver function, Prolonged neonatal jaundice OMIM:618437
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Feeding difficulties, Renal tubu... OMIM:614922
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Renal tubular acidosis ORPHA:156
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Ketonuria, Edema, Hyperammonemia, Dehydration, Weight loss, 3-Methylglutaric ... ORPHA:20
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Palpebral edema, Facial edema, Xerostomia, Thyroiditis, Weight loss, Tubulointerstitial... ORPHA:79078
Transaldolase Deficiency
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Decreas... OMIM:606003
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis OMIM:613280
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Edema, Abnormal blood ion concentration, Renal cyst, Gastrointestinal inflamm... ORPHA:79404
Congenital Tufting Enteropathy
Dehydration, Weight loss, Arthritis, Punctate keratitis, Failure to thrive ORPHA:92050
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... OMIM:617049
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... OMIM:619644
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Hepatic failure ORPHA:3196
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Weight loss ORPHA:100024
Attrv30M Amyloidosis
Nephropathy, Abnormal renal physiology, Weight loss ORPHA:85447
Macrophage Activation Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... ORPHA:158061
Desmoplastic Small Round Cell Tumor
Ascites, Cachexia, Weight loss ORPHA:83469
Aredyld Syndrome
Abnormality of the ureter, Cachexia ORPHA:1133
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Hepatic failure, Dysphagia ORPHA:2724
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... OMIM:278760
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Hemoly... ORPHA:79282
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hyperalaninemia, Cachexia, Weight loss ORPHA:298
Cronkhite-Canada Syndrome
Cachexia, Lymphedema ORPHA:2930
Peroxisome Biogenesis Disorder 5B
Decreased liver function OMIM:614867
Enteric Anendocrinosis
Dehydration ORPHA:83620
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Reduced natural killer cell activity, Splenomegaly, ... ORPHA:540
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Dehydration, He... ORPHA:90038
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:256810
Primary Sjögren Syndrome
Renal insufficiency, Myositis, Chronic active hepatitis, Abnormality of the kidney, Glomeruloneph... ORPHA:289390
Xanthinuria, Type I
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis OMIM:278300
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Jaundice, Vomiting, Acute hepatic failure OMIM:616483
Beta-Thalassemia Intermedia
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormality o... ORPHA:231222
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Splenomegaly, Hepatosplenomegaly, Hepatocellular carcinoma, Increa... ORPHA:158057
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating r... ORPHA:90791
Peroxisome Biogenesis Disorder 8B
Constipation, Decreased liver function, Dysphagia OMIM:614877
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Dehydration, Weight loss, R... ORPHA:99885
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Lacticaciduria,... ORPHA:3008
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Polyhydramnios OMIM:618186
Pelizaeus-Merzbacher Disease
Abnormality of the urinary system, Failure to thrive in infancy, Cachexia ORPHA:702
Whipple Disease
Hyponatremia, Myositis, Pericarditis, Cachexia, Myocarditis, Uveitis, Pedal edema, Arthritis, Inf... ORPHA:3452
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Mitochondrial Dna Depletion Syndrome 17
Hepatic failure OMIM:618567
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Decreas... OMIM:251290
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... OMIM:223900
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Elevated hepatic transaminase, Fatal liver failure in infancy, Abdominal pai... ORPHA:275761
Pontocerebellar Hypoplasia, Type 13
Constipation, Decreased liver function, Feeding difficulties OMIM:618606
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Feeding difficulties in infancy, Hepatic necros... OMIM:231530
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Xerostomia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... ORPHA:94093
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Alg3-Cdg
Abnormal circulating enzyme concentration or activity, Decreased liver function, Feeding difficul... ORPHA:79321
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Dehydration, Nephrocalcinosi... OMIM:259900
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... ORPHA:436271
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Feeding difficulties, Hepatic fib... ORPHA:541423
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Nephrolithiasis, Weigh... OMIM:617321
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Abdominal distention, Jaundice, Biliary cir... ORPHA:186
Orthostatic Hypotension 1
Hypomagnesemia, Nocturia, Increased blood urea nitrogen OMIM:223360
Sarcoidosis
Renal insufficiency, Maculopapular exanthema, Hypercalcemia, Erythema nodosum, Nephrolithiasis, H... ORPHA:797
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Hypercalciuria, Hydrops fetalis, Dehydration, 3-Methylglutaric aciduri... OMIM:557000
Cog2-Cdg
Decreased liver function ORPHA:435934
Cranioectodermal Dysplasia 1
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti... OMIM:218330
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Failu... OMIM:124000
Citrullinemia Type I
Gastroesophageal reflux, Hepatic failure, Vomiting, Feeding difficulties ORPHA:247525
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Weight loss ORPHA:100083
Harlequin Ichthyosis
Dehydration, Erythroderma ORPHA:457
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Abdominal pain, Pancreatic cysts, Jaundice, Abno... ORPHA:284
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... OMIM:276700
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Focal Myositis
Myositis, Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Vesicoureteral reflux, Bla... OMIM:301068
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Uveitis, Conjunctivitis, Increased blood urea nitrogen, Failure... ORPHA:90321
Tetrasomy 12P
Cachexia ORPHA:884
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure ORPHA:254881
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Feeding difficulties, 3-Methylglutaconic aciduria, Bile duct proli... OMIM:618329
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Pedal edema, Weight loss, Nephrotic syndrome, Nephropathy, Pleu... ORPHA:330001
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Eosinophilic Fasciitis
Fasciitis, Myositis, Edema, Weight loss, Arthritis, Muscular edema ORPHA:3165
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotransferase concentration, ... OMIM:608779
19Q13.11 Microdeletion Syndrome
Failure to thrive, Hypospadias, Cachexia ORPHA:217346
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Portal hypertension, Megacystis, Hepatic failure, Hydronephrosis OMIM:619431
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Dicarboxylic ac... OMIM:611126
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Hepatomegaly, Elevated hepatic transaminase, Poor appetite, Anorexia, Bowel ... ORPHA:100075
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, C... ORPHA:534
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... OMIM:220110
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Abnormality of the liver,... ORPHA:398124
Sepsis In Premature Infants
Hepatomegaly, Abdominal distention, Gastrointestinal dysmotility, Jaundice, Diarrhea, Enterocolit... ORPHA:90051
Gapo Syndrome
Tubulointerstitial fibrosis OMIM:230740
Silver-Russell Syndrome
Failure to thrive in infancy, Hypospadias, Cachexia, Obesity, Abnormality of the urinary system ORPHA:813
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, 3-Methylglutaconic aciduria, Recurrent pneumonia, Dehydration OMIM:616271
Netherton Syndrome
Hypernatremic dehydration, Recurrent skin infections, Allergic rhinitis, Eczema, Angioedema, Chro... OMIM:256500
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Dys... OMIM:607426
Fanconi Anemia, Complementation Group E
Ectopic kidney, Cryptorchidism, Horseshoe kidney, Deficient excision of UV-induced pyrimidine dim... OMIM:600901
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Ascites, Weight loss ORPHA:2198
Wilson Disease
Acute hepatic failure, Aminoaciduria, Vomiting, Hepatic steatosis, Hepatomegaly, Elevated circula... OMIM:277900
Holocarboxylase Synthetase Deficiency
Eczema, Hyperammonemia, Keratoconjunctivitis, Weight loss, Organic aciduria, Perioral eczema ORPHA:79242
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Dehydrati... ORPHA:168558
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Feeding difficulties in infancy, Cryptor... ORPHA:912
Rhabdoid Tumor
Hematuria, Renal neoplasm, Hypercalcemia, Weight loss ORPHA:69077
Huntington Disease-Like 2
Weight loss ORPHA:98934
X-Linked Creatine Transporter Deficiency
Abnormal circulating creatine concentration, Cachexia ORPHA:52503
Hereditary Fructose Intolerance
Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Abdominal pain, Ab... ORPHA:469
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Dehydrati... ORPHA:289548
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Renal tubular dysfunction, Cholelithiasis, Hepatic failure, Poor suck OMIM:614886
Follicular Lymphoma
Pleural effusion, Weight loss, Lymphedema ORPHA:545
Malignant Peritoneal Mesothelioma
Peritonitis, Ascites, Pedal edema, Weight loss ORPHA:168811
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Protein avoidance, Oroticaciduria, Hepatitis, Feedin... ORPHA:415
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Fanconi Anemia, Complementation Group A
Ectopic kidney, Cryptorchidism, Horseshoe kidney, Deficient excision of UV-induced pyrimidine dim... OMIM:227650
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence, Cachexia ORPHA:300605
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hematuria, Decreased liver function OMIM:617021
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Microvesicular hepatic steatosis, ... OMIM:617156
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... OMIM:233450
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Chilblains, Acute pancreati... OMIM:619487
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline phosphata... ORPHA:171
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... ORPHA:1454
Pearson Syndrome
Renal insufficiency, Proteinuria, Small for gestational age, Hypomagnesemia, Lacticaciduria, Rena... ORPHA:699
Peroxisome Biogenesis Disorder 6B
Decreased liver function, Prolonged neonatal jaundice OMIM:614871
Pseudomyxoma Peritonei
Inflammation of the large intestine, Ascites, Weight loss ORPHA:26790
Eosinophilic Gastroenteritis
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Edema, Atopic dermatiti... ORPHA:2070
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... ORPHA:94080
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Elevated hepatic transaminase, Increased urine alpha-ketoglutarat... OMIM:619355
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... ORPHA:324964
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Cryptorchidism, Abdominal distention, Splenomegaly, Pancreatic lymphangiectasis, Mi... OMIM:235255
Inflammatory Bowel Disease (Crohn Disease) 1
Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit... OMIM:266600
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Obesity, Cachexia ORPHA:85293
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Feeding difficulties... ORPHA:71212
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Edema, Discoid lupus rash, Per... ORPHA:93552
Fanconi Anemia, Complementation Group C
Ectopic kidney, Cryptorchidism, Horseshoe kidney, Deficient excision of UV-induced pyrimidine dim... OMIM:227645
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... OMIM:614227
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hepatic failure, Renal hypoplasia, Absence of renal corticomedullary differentiation, Feeding dif... OMIM:619758
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... ORPHA:447
Nephroblastoma
Hematuria, Nephroblastoma, Weight loss ORPHA:654
Isaacs Syndrome
Weight loss ORPHA:84142
Liposarcoma
Abnormality of the kidney, Weight loss ORPHA:69078
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym... OMIM:603041
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Abdominal pain, Splenomegaly, Cirrhosis, H... ORPHA:465508
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Cryptorchidism, Abdominal distention, Splenomegaly, Pancreatic lymphangiectasis, He... ORPHA:1655
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Oliguria, Hepatic failure ORPHA:159
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Jaundice, Diarrhea, Hepatosplen... ORPHA:79124
Polyarteritis Nodosa
Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, W... ORPHA:767
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Farber Disease
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati... ORPHA:333
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Functional intestinal obstruction, Gastrointestinal obstruction, E... ORPHA:100078
Primary Myelofibrosis
Cachexia ORPHA:824
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function OMIM:618839
Dend Syndrome
Elevated hemoglobin A1c, Dehydration ORPHA:79134
Marburg Hemorrhagic Fever
Renal insufficiency, Pericarditis, Maculopapular exanthema, Elevated circulating creatine kinase ... ORPHA:99826
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Trisomy 18