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.

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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 100% (1 of 1)
Testis  Section images heterozygote 100% (1 of 1)
Vas deferens  Section images heterozygote 100% (1 of 1)
Adrenal gland N/A heterozygote 0.0% (0 of 1)
Aorta N/A heterozygote 0.0% (0 of 1)
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote 0.0% (0 of 1)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 1)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 1)
Diaphragm N/A heterozygote 0.0% (0 of 1)
Duodenum N/A heterozygote 0.0% (0 of 1)
Esophagus N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote Not available
Harderian gland N/A heterozygote 0.0% (0 of 1)
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 0.0% (0 of 1)
Jejunum N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 1)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 1)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 1)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 1)
Mesenteric lymph node N/A heterozygote Not available
Midbrain N/A heterozygote 0.0% (0 of 1)
Olfactory lobe N/A heterozygote 0.0% (0 of 1)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 1)
Parathyroid gland N/A heterozygote Not available
Parotid gland N/A heterozygote 0.0% (0 of 1)
Penis N/A heterozygote 0.0% (0 of 1)
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 1)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 1)
Sciatic nerve N/A heterozygote 0.0% (0 of 1)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 1)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 1)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 1)
Submandibular gland N/A heterozygote 0.0% (0 of 1)
Thymus N/A heterozygote 0.0% (0 of 1)
Thyroid gland N/A heterozygote 0.0% (0 of 1)
Tongue N/A heterozygote 0.0% (0 of 1)
Trachea N/A heterozygote 0.0% (0 of 1)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 1)
Urinary bladder N/A heterozygote 0.0% (0 of 1)
Uterus N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 1)
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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
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 Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Adult LacZ

LacZ Images Section

5 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 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
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... 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
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Edema, Tubulointerstitial fibrosis, Hypoa... OMIM:614196
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Reversible renal failure, Anterior uveitis, Panuve... OMIM:607665
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, ... OMIM:251000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney dis... OMIM:615862
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Dehydration, Renal insufficiency, Hyperammonemia ORPHA:28
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration, Methylmalonic aciduria OMIM:614265
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Small for gestational age, Dehydration... ORPHA:93101
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Familial Renal Glucosuria
Renal tubular dysfunction, Glycosuria, Recurrent urinary tract infections, Nephropathy, Dehydration ORPHA:69076
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Proximal tubulopathy, Weight loss, Aminoaciduria OMIM:612075
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra... ORPHA:228302
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... OMIM:602522
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Infantile hypercalcemia, Hyper... OMIM:143880
Glycogen Storage Disease Iv
Ascites, Failure to thrive, Edema, Tubulointerstitial fibrosis, Polyhydramnios, Hydrops fetalis OMIM:232500
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Dehydration, Dicarboxylic aciduria, Elevated circulating acylcarnitin... ORPHA:79159
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Nephrocalcinosis, Failure to thrive, Hypercalciuria, Dehydration, Distal renal tubul... OMIM:602722
Chronic Hiccup
Weight loss, Dehydration ORPHA:396
Congenital Disorder Of Glycosylation, Type Iir
Hypospadias, Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Decrease... OMIM:301045
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive, Hypernatremic dehydration, Dehydration OMIM:143860
Methylmalonyl-Coa Epimerase Deficiency
Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Dehydration, Ketonuria OMIM:251120
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:256100
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Aminoa... OMIM:618913
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Feeding difficulties, Abdominal distention, Abnormal mitochondrial morphology, Hepa... OMIM:618528
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Failure to thrive, Edema, Recurrent pneumonia, Dehydration OMIM:616069
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy OMIM:602114
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nep... ORPHA:85450
Senior-Loken Syndrome 9
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Obesity OMIM:616629
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly, Feeding difficulties in infancy, Renal cyst OMIM:614870
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated circulating alkaline phosphatase concentrat... OMIM:616829
Interstitial Pneumonitis, Desquamative, Familial
Failure to thrive, Tubulointerstitial fibrosis OMIM:263000
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:606966
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... OMIM:161900
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia, Dehydration, Failure to thrive, Weight loss, Hematuria, Nephrolithi... ORPHA:35710
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:604387
Sjogren Syndrome
Xerostomia, Rheumatoid arthritis, Tubulointerstitial nephritis, Keratoconjunctivitis sicca OMIM:270150
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Dehydration, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dysplasia, Absence of ren... OMIM:263200
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Nephrotic syndrome, Angioedema, Infectio... ORPHA:139402
Central Diabetes Insipidus
Hyponatremia, Failure to thrive, Weight loss, Dehydration, Nocturia ORPHA:178029
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Dehydration OMIM:601410
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Dicarbo... ORPHA:289504
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Hepatic steatosis, Hydronephrosis, Elevated hepatic transaminase OMIM:617093
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Weight loss, Edema, Abnormal circulating prote... ORPHA:103910
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Gout, Hyperuricemia, Nephropathy, Renal insufficiency OMIM:162000
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the urinary system, Failure to thrive, Dehydration, Abn... ORPHA:99886
Birk-Landau-Perez Syndrome
Hyperechogenic kidneys, Hyperkalemia, Tubulointerstitial nephritis, Renal insufficiency OMIM:617595
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Small for gestati... ORPHA:2260
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Tubulointerstitial nephritis, Hyperalaninemia OMIM:614582
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... ORPHA:63
Combined Oxidative Phosphorylation Deficiency 46
Decreased liver function OMIM:618952
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Dehydration OMIM:143500
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Nausea, Fulminant hepatitis, Poor appetite, Hepatic failure, Elevated hepatic trans... OMIM:618549
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Failure to thrive, Renal salt wasting, Increased circulating renin le... OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Failure to thrive, Renal salt wasting, Increased circulating renin le... OMIM:203400
Peroxisome Biogenesis Disorder 7B
Decreased liver function OMIM:614873
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Elevated circulating C-reactive protein con... ORPHA:449395
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cholestasis, Abnormal enzyme/coenzyme activity ORPHA:570422
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa... ORPHA:882
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra... OMIM:614376
Combined Oxidative Phosphorylation Deficiency 30
Decreased liver function, Feeding difficulties, Gastroesophageal reflux, Elevated hepatic transam... OMIM:616974
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Nephrotic syndrome, Hepatitis, Hepatic failure, Jaundice ORPHA:60
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... ORPHA:93126
Congenital Disorder Of Glycosylation, Type Ir
Decreased liver function, Gastroesophageal reflux, Constipation OMIM:614507
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Feeding difficulties in infancy, Vomiting, Abdomi... OMIM:613070
Diencephalic Syndrome
Cachexia, Decreased body weight, Long penis ORPHA:1672
Lymphedema-Distichiasis Syndrome
Conjunctivitis, Tubulointerstitial nephritis, Renal duplication, Patent ductus arteriosus, Recurr... ORPHA:33001
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Pancreatitis, Hyperammonemia, Renal insufficiency, Dehydration ORPHA:79312
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612926
Reticular Dysgenesis
Failure to thrive, Chronic otitis media, Weight loss, Skin rash, Dehydration ORPHA:33355
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hepatic failure, Elevated hepatic trans... OMIM:617156
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619232
Hyperbiliverdinemia
Decreased liver function, Green urine, Cholelithiasis, Cholestasis OMIM:614156
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:613944
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit... ORPHA:157
Igg4-Related Retroperitoneal Fibrosis
Psoriasiform dermatitis, Hydronephrosis, Deep dermal perivascular inflammatory infiltrate, Nephro... ORPHA:49041
Xfe Progeroid Syndrome
Cachexia, Proteinuria, Renal insufficiency, Ascites OMIM:610965
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Elevated circulating creatine kinase concentration, Hematuria... ORPHA:231111
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit... ORPHA:228308
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Eczema, Tubulointerstitial nephritis, Hepatitis, Gastritis, Abnormal ... ORPHA:37042
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Tubulointerstitial nephritis, Endocarditis, Myositis, Hematuria, Weight l... ORPHA:183
Majeed Syndrome
Inflammatory abnormality of the skin, Abnormal inflammatory response, Cachexia, Pustule, Synoviti... ORPHA:77297
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Failure to thrive, Renal salt wasting, Dehydration OMIM:264350
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Elevated circulating alkaline p... OMIM:613812
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Feeding difficulties OMIM:246900
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Spleno... OMIM:616828
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular ... ORPHA:3337
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Conjugated hyp... OMIM:208085
Alstrom Syndrome
Chronic active hepatitis, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, ... OMIM:203800
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Lysosomal Acid Lipase Deficiency
Splenomegaly, Hypersplenism, Hepatosplenomegaly, Reduced lysosomal acid lipase activity, Diarrhea... OMIM:278000
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Splenomegaly, Hepatic failure, Elevated hepatic ... OMIM:616278
Congenital Disorder Of Glycosylation, Type Ix
Decreased liver function, Feeding difficulties, Micropenis OMIM:615597
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Renal sodium wasting, Failure to thrive, Increased circulating renin ... ORPHA:556030
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomeru... ORPHA:488627
Cholesteryl Ester Storage Disease
Hepatomegaly, Nausea and vomiting, Splenomegaly, Cirrhosis, Hepatic failure, Diarrhea, Jaundice ORPHA:75234
Cystinosis
Renal tubular dysfunction, Hypokalemia, Dehydration, Failure to thrive, Hypophosphatemia, Nephrop... ORPHA:213
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Weight loss, Cachexia, Slender build OMIM:613662
Lysinuric Protein Intolerance
Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Hyperglycinem... ORPHA:470
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration, Glycosuria OMIM:606824
Mulibrey Nanism
Cachexia ORPHA:2576
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration, Renal insufficiency, Pancreatitis, Hyperammonemia ORPHA:27
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Microscopic hematuria, Chronic kidney disease, Hyponatremia, Hypocalcemic tetan... ORPHA:411634
Tubulointerstitial Nephritis And Uveitis Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Microscopic hematuria, Cystoi... ORPHA:91500
Combined Oxidative Phosphorylation Deficiency 34
Vomiting, Hepatomegaly, Hepatic failure, Hepatic steatosis OMIM:617872
Cholestasis, Progressive Familial Intrahepatic, 4
Hepatocellular carcinoma, Cirrhosis, Hepatic failure, Intrahepatic cholestasis, Portal hypertension OMIM:615878
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Failure to thrive in infancy, Atopic dermatitis, Pustule, Weight loss... ORPHA:171876
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Decreased liver function, Hepatic steatosis, Cholestasis, Elevated hepatic trans... OMIM:614300
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Cholestasis, Hepatic failure, Prolonged neo... OMIM:231100
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... ORPHA:79302
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Decreased urine output, Tubulointerstitial nephritis, Pneumonia,... ORPHA:340
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Proteinuria, Nephropathy, Polyhydramnios ORPHA:2774
Pulmonary Blastoma
Weight loss, Recurrent pneumonia ORPHA:64741
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Congenital Disorder Of Glycosylation, Type Iij
Recurrent infection of the gastrointestinal tract, Hepatomegaly, Feeding difficulties, Splenomega... OMIM:613489
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology, Hyperuricemia OMIM:609886
Autosomal Agammaglobulinemia
Sinusitis, Bronchiectasis, Failure to thrive, Chronic otitis media, Hepatitis, Arthritis, Osteomy... ORPHA:33110
Intermediate Uveitis
Psoriasiform dermatitis, Tubulointerstitial nephritis, Macular edema, Anterior uveitis, Optic neu... ORPHA:279914
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo... OMIM:214950
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Decreased liver function, Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Aminoaciduria, Cachexia, Methylmalonic aciduria ORPHA:1933
Nephronophthisis 15
Nephronophthisis, Hepatic failure OMIM:614845
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia OMIM:618093
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:161950
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic fail... OMIM:235555
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Hyperglycinemia, Hyperammonemi... OMIM:251110
Galactosemia I
Hepatomegaly, Aminoaciduria, Vomiting, Increased level of galactitol in urine, Cirrhosis, Decreas... OMIM:230400
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Vomiting, Decreased liver function, Gastrointestinal hemorrhage, ... ORPHA:79319
Idiopathic Achalasia
Weight loss, Decreased prealbumin level, Recurrent aspiration pneumonia ORPHA:930
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hypokalemia, Failure to thr... ORPHA:411629
Moynahan Syndrome
Cachexia ORPHA:2574
3-Methylglutaconic Aciduria Type 4
Decreased liver function, 3-Methylglutaconic aciduria ORPHA:67048
Diarrhea 2, With Microvillus Atrophy
Dehydration OMIM:251850
Propionic Acidemia
Eczema, Failure to thrive, Pancreatitis, Hyperglycinemia, Hyperammonemia, Increased level of hipp... OMIM:606054
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Failure to thrive, Megacystis, Hypertonic dehydration, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Failure to thrive, Megacystis, Hypertonic dehydration, Polyuria OMIM:304800
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Bartter Syndrome, Type 3
Renal salt wasting, Hypokalemia, Increased urinary potassium, Dehydration, Hypocalciuria, Renal p... OMIM:607364
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Proximal tubulopathy, Polyuria, Dehydration OMIM:560000
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Hyperglycinemia, Hyperammonemi... OMIM:251100
Lipoyltransferase 1 Deficiency
Decreased liver function, Elevated hepatic transaminase OMIM:616299
Uremic Pruritus
Inflammatory abnormality of the skin, Hypercalcemia, Stage 5 chronic kidney disease, Recurrent sk... ORPHA:94059
Lead Poisoning
Decreased HDL cholesterol concentration, Renal tubular dysfunction, Tubulointerstitial nephritis,... ORPHA:330015
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Dehydration OMIM:618958
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Small for gestational age, Nephrocalcinosis, Increased urinary potassium, Chronic k... ORPHA:89938
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Elevated circulating creatine kinase concentration, Dicarboxylic aciduria, Hyperammonem... ORPHA:42
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Increased blood urea nitrogen, Membranoproliferative glomer... ORPHA:251004
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney ORPHA:459061
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Dehydration OMIM:602199
Wolcott-Rallison Syndrome
Hyponatremia, Ascites, Dehydration, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Chronic ... ORPHA:1667
Peroxisome Biogenesis Disorder 8B
Decreased liver function, Dysphagia, Constipation OMIM:614877
Ring Chromosome 10 Syndrome
Renal hypoplasia/aplasia, Cachexia, Hypocalcemia ORPHA:1438
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Decreased liver function, Cholelithiasis ORPHA:79278
Peroxisome Biogenesis Disorder 11A (Zellweger)
Decreased liver function, Renal cyst, Multiple renal cysts, Elevated hepatic transaminase OMIM:614883
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Dysphagia, Gastrostomy tube feeding in infancy, Decreased liver function, Hepatic steatosis, Abno... ORPHA:70472
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Vomiting, Elevated hepatic transaminase, Reye syn... OMIM:256810
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Failure to thrive, Increased circulating renin level, Dehydration OMIM:177735
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Hepatic failure, Ele... OMIM:607765
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Feeding difficulties in infancy, Generalized aminoaciduria, Hepatocellular necrosis... OMIM:251880
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency, Fatal liver failure in infancy ORPHA:254857
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Portal hypertension, Hepatic failure OMIM:210050
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Small for gestational age, Nephrocalcinosis, Increased urinary potassium, Failure ... OMIM:601678
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Poor suck, Decreased liver function, Episodic vomiting OMIM:615160
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Failure to thrive, Cholangitis, Aminoaciduria, Tubulointerstitial nephritis OMIM:124000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hyperlipidemia, Nephrocalcinosis, Failure to thrive, Tubuloi... ORPHA:79259
Babesiosis
Hepatomegaly, Nausea and vomiting, Anorexia, Splenomegaly, Hepatic failure, Renal insufficiency, ... ORPHA:108
Nephrogenic Diabetes Insipidus
Hypernatremia, Failure to thrive, Hypernatremic dehydration, Enuresis nocturna, Polyhydramnios, F... ORPHA:223
Galactosemia
Hepatomegaly, Vomiting, Feeding difficulties, Cirrhosis, Hepatic failure, Abnormal enzyme/coenzym... ORPHA:352
Microvillus Inclusion Disease
Abnormal renal physiology, Dehydration, Nephrocalcinosis ORPHA:2290
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Failure to thrive, Proximal tubu... ORPHA:18
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Vomiting, Abdominal distention, Decreased liver function, Cholestasis, Diarrhea OMIM:608104
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Vomiting, Cirrhosis, Hepatic failure, Diarrhea OMIM:602579
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Hypokalemia, Failure to thrive, Weight loss, Increased serum bile... OMIM:619377
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... OMIM:274150
Isovaleric Acidemia
Dehydration, Hyperglycinuria OMIM:243500
Adrenal Hypoplasia, Congenital
Renal salt wasting, Hyponatremia, Dehydration, Failure to thrive OMIM:300200
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Peritonitis, Splenomegaly, Cirrhosis, Intestinal obst... ORPHA:131
Lamellar Ichthyosis
Chronic otitis media, Erythroderma, Renal insufficiency, Dehydration ORPHA:313
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Generalized aminoaciduria, Hepatocellular carcinoma, Increased h... ORPHA:2088
Gitelman Syndrome
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Pericar... ORPHA:358
Beta-Ketothiolase Deficiency
Weight loss, Edema, Hyperammonemia, Hyperuricemia, Dehydration, Ketonuria ORPHA:134
Netherton Syndrome
Eczema, Hydronephrosis, Erythroderma, Skin rash, Ectopic kidney, Aminoaciduria, Dehydration ORPHA:634
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Failure to thrive, Hypochloremia, Polyhydramnios, Dehydration OMIM:214700
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Splenomegaly ORPHA:664
Familial Cold Urticaria
Dehydration, Arthritis, Conjunctivitis ORPHA:47045
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, F... ORPHA:47159
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function OMIM:617021
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal hypoplasia, Renal tubular acidosis, Feeding difficulties, Renal cyst, Decreas... OMIM:614922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Anuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome,... OMIM:235400
Aggressive Systemic Mastocytosis
Anorexia, Abdominal cramps, Elevated total serum tryptase, Abnormal mast cell morphology, Decreas... ORPHA:98850
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss, Enterocolitis, Dehydration, Low plasma citrulline, Abnormal blood... ORPHA:95427
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... ORPHA:567983
Dopamine Beta-Hydroxylase Deficiency
Rhinitis, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Elevated ... ORPHA:230
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Vomiting, Feeding difficulties, Increased urine alpha-ketoglutarate concentration, ... ORPHA:2394
Tuberculosis
Weight loss ORPHA:3389
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Cholangitis, Cirrhosis, Chronic diarrhea, Panh... OMIM:615207
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Reduced natural killer cell activity, Decreased circulating antibody level, Fulmina... OMIM:308240
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Decreased liver function ORPHA:512260
Microsporidiosis
Sinusitis, Myocarditis, Cholangitis, Hepatitis, Abnormality of the urinary system physiology, Inf... ORPHA:2552
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Tubulointerstitial fibrosis, Recurrent otitis media, Joint swelling, Rheumatoid arthri... OMIM:607944
Mcdonough Syndrome
Cachexia ORPHA:2471
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage OMIM:278760
Arima Syndrome
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:243910
Shigellosis
Myocarditis, Hyponatremia, Failure to thrive in infancy, Conjunctivitis, Pneumonia, Peritonitis, ... ORPHA:810
Idiopathic Bronchiectasis
Cachexia, Acute infectious pneumonia, Bronchiectasis ORPHA:60033
Combined Oxidative Phosphorylation Deficiency 1
Hepatomegaly, Fulminant hepatic failure, Feeding difficulties, Cholestasis OMIM:609060
Cocaine Intoxication
Tubulointerstitial nephritis, Colitis, Elevated circulating creatine kinase concentration, Hematu... ORPHA:90068
Renpenning Syndrome
Hypospadias, Cachexia ORPHA:3242
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Nephrocalcinosis, Increased urinary potassium, Failure to thrive, Hype... OMIM:241200
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatosplenomegaly, Hepatic fibrosis ORPHA:466794
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Azotemia, Hematur... OMIM:104200
Colchicine Poisoning
Myocarditis, Hyponatremia, Hypokalemia, Dehydration, Hypophosphatemia, Hypomagnesemia, Oliguria, ... ORPHA:31824
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Melena, Hypersplenism... ORPHA:480520
Classic Galactosemia
Hepatomegaly, Vomiting, Feeding difficulties, Hepatic failure, Abnormal enzyme/coenzyme activity,... ORPHA:79239
Cholera
Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypokalemia, Acute kidney i... ORPHA:173
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Cirrhosis, Decreased liver function, Hepatosplenomegaly, Hepatic failure, Elevated ... ORPHA:367
Alg1-Cdg
Decreased liver function, Chronic diarrhea, Renal insufficiency, Nephrotic syndrome ORPHA:79327
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic failure, Chr... OMIM:615630
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Weight loss, Pancreatitis, Oliguria, Pulmonary edema, Abnormal renal t... ORPHA:188
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated hepatic transaminase, Acute hepatic failure OMIM:615453
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Hepatomegaly, Dysphagia, Vomiting, Lacticaciduria, Feeding difficulties, G... ORPHA:26791
Isolated Congenital Hypoglossia/Aglossia
Weight loss, Aspiration pneumonia ORPHA:141152
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Pseudo-Torch Syndrome 1
Hepatomegaly, Splenomegaly, Decreased liver function, Elevated hepatic transaminase, Renal insuff... OMIM:251290
Christianson Syndrome
Cachexia ORPHA:85278
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Xerostomia, Hepatit... ORPHA:227990
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Weight loss, Cachexia, Hyperlipoproteinemia ORPHA:1979
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Myoglobinuria, Reduced carnitine O-palmitoyltransferase level, Red-brown urine, Epi... ORPHA:228305
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Protein avoidance, Acute hepatitis, Decreased liver function, Episodic vomiting OMIM:238970
Transaldolase Deficiency
Hepatomegaly, Hepatic fibrosis, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Decreased liver ... OMIM:606003
Hypermanganesemia With Dystonia 1
Cirrhosis, Hepatomegaly, Decreased liver function, Elevated hepatic transaminase OMIM:613280
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Maternal Uniparental Disomy Of Chromosome X
Hepatic failure, Azoospermia ORPHA:261519
Galactose Epimerase Deficiency
Weight loss, Aminoaciduria ORPHA:79238
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly OMIM:615438
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Xerostomia, Hepatit... ORPHA:227982
Wolman Disease
Hepatomegaly, Nausea and vomiting, Abdominal distention, Splenomegaly, Hepatic failure, Malnutrition ORPHA:75233
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Renal tubular dysfunction, Failure to thrive, Weight loss, Glycosuria, Abno... ORPHA:99885
Severe Generalized Junctional Epidermolysis Bullosa
Pyoderma, Abnormality of the bladder, Abnormal blood ion concentration, Urinary retention, Renal ... ORPHA:79404
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Polyhydramnios OMIM:618186
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Renal tubular acidosis, Hepatic failure ORPHA:156
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Peritonitis, Anuria, ... ORPHA:90038
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss, Edema, Hyperammonemia, Hyperuricemia, Acute pancreatitis, 3-Methylglutaric aciduria,... ORPHA:20
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Methylmalonic aciduria, Dehydrati... ORPHA:79282
Mu-Heavy Chain Disease
Weight loss, Bence Jones Proteinuria, Nephropathy ORPHA:100024
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... OMIM:618641
Congenital Tufting Enteropathy
Failure to thrive, Weight loss, Arthritis, Punctate keratitis, Dehydration ORPHA:92050
Macrophage Activation Syndrome
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Elevated circulating aspartate a... ORPHA:158061
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Mitochondrial Neurogastrointestinal Encephalomyopathy
Weight loss, Cachexia, Hyperalaninemia ORPHA:298
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Myositis, Xerostomia, Weight loss, Faci... ORPHA:79078
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Dysphagia, Hepatic failure ORPHA:2724
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Pyruvate Carboxylase Deficiency
Hypernatremia, Neonatal hyperbilirubinemia, Failure to thrive, Lacticaciduria, Increased level of... ORPHA:3008
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Hepatic failure ORPHA:3196
Primary Sjögren Syndrome
Keratoconjunctivitis sicca, Chronic active hepatitis, Tubulointerstitial nephritis, Lymphocytic i... ORPHA:289390
Xanthinuria, Type I
Hydronephrosis, Hyperxanthinemia, Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria OMIM:278300
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... OMIM:220150
Desmoplastic Small Round Cell Tumor
Weight loss, Cachexia, Ascites ORPHA:83469
Developmental And Epileptic Encephalopathy 75
Prolonged neonatal jaundice, Feeding difficulties in infancy, Decreased liver function OMIM:618437
Cog4-Cdg
Recurrent infection of the gastrointestinal tract, Feeding difficulties, Fatal liver failure in i... ORPHA:263501
Peroxisome Biogenesis Disorder 5B
Decreased liver function OMIM:614867
Enteric Anendocrinosis
Dehydration ORPHA:83620
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Nephrotic syndrome, Hemolytic-uremic syndrome, Intermittent diarrhea, Acute hepatic... OMIM:619644
Aredyld Syndrome
Cachexia, Abnormality of the ureter ORPHA:1133
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Whipple Disease
Myocarditis, Hyponatremia, Cachexia, Pericarditis, Infectious encephalitis, Myositis, Arthritis, ... ORPHA:3452
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Cronkhite-Canada Syndrome
Cachexia, Lymphedema ORPHA:2930
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Abnormal renal physiology, Reduced natural killer cell activity, Decreased circulat... ORPHA:540
Wilson Disease
Hepatomegaly, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acute hepat... ORPHA:905
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Hyponatremia, Hyperkalemia, Penoscrotal hypospadias, Failure to thrive, Renal salt w... ORPHA:90791
Pelizaeus-Merzbacher Disease
Abnormality of the urinary system, Failure to thrive in infancy, Cachexia ORPHA:702
Pseudo-Torch Syndrome 2
Decreased liver function, Hepatomegaly, Elevated hepatic transaminase OMIM:617397
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatocellular carcinoma, Abnormal renal physiology, Splenomegaly, Hepatosplenomegaly, Increased ... ORPHA:158057
Attrv30M Amyloidosis
Abnormal renal physiology, Weight loss, Nephropathy ORPHA:85447
Beta-Thalassemia Intermedia
Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Proximal tubulopathy... ORPHA:231222
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Myoglobinuria, Hypernatremia, Elevated circulating creatine kinase co... ORPHA:94093
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Cachexia, Ascites, Dehydration, Failure to thrive, Weight loss, Hyper... ORPHA:275761
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating al... OMIM:617049
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I... OMIM:223900
Wilson Disease
Hepatomegaly, Hyperphosphaturia, Renal tubular dysfunction, Dysphagia, Aminoaciduria, Hepatocellu... OMIM:277900
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Myoglobinuria, Feeding difficulties in infancy, Decreased 3-hydroxyacy... OMIM:231530
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Renal Fanconi syndrome, Renal tubular dysfunction, Hyperphosphaturia, Vomiting, Gly... ORPHA:436271
Alg3-Cdg
Decreased liver function, Feeding difficulties, Abnormal enzyme/coenzyme activity ORPHA:79321
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Vomiting, Jaundice OMIM:616483
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic fibrosis, Vomiting, Elevated gamma-glutamyltransferase level, Cirrhosis, He... OMIM:615486
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Increased ... ORPHA:186
Yao Syndrome
Inflammatory abnormality of the skin, Keratoconjunctivitis sicca, Pericarditis, Xerostomia, Weigh... OMIM:617321
Alveolar Echinococcosis
Cholangitis, Pancreatic cysts, Abnormality of mesentery morphology, Vomiting, Hepatic cysts, Rena... ORPHA:284
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hypokalemia, Xerostomia, Hypomagnesemia, Hypocalcemia OMIM:175500
Citrullinemia Type I
Vomiting, Feeding difficulties, Gastroesophageal reflux, Hepatic failure ORPHA:247525
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hydronephrosis, Hepatic fibrosis, Feeding difficulties, Esophagitis, Hepatic steatosis, Hepatospl... ORPHA:541423
Gapo Syndrome
Tubulointerstitial fibrosis OMIM:230740
Mitochondrial Dna Depletion Syndrome 17
Hepatic failure OMIM:618567
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Renal Fanconi syndrome, Renal tubular dysfunction, Hyperphosphaturia, Increased hep... OMIM:220110
Pontocerebellar Hypoplasia, Type 13
Decreased liver function, Feeding difficulties, Constipation OMIM:618606
Harlequin Ichthyosis
Erythroderma, Dehydration ORPHA:457
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Dicarboxylic aciduria, Hepatic f... OMIM:611126
Sarcoidosis
Keratoconjunctivitis sicca, Hypercalcemia, Tubulointerstitial nephritis, Erythema nodosum, Nephro... ORPHA:797
Cystinosis, Nephropathic
Renal Fanconi syndrome, Failure to thrive in infancy, Generalized aminoaciduria, Hyponatremia, De... OMIM:219800
Focal Myositis
Elevated circulating creatine kinase concentration, Weight loss, Myositis ORPHA:48918
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Weight loss ORPHA:100083
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... OMIM:203780
Tetrasomy 12P
Cachexia ORPHA:884
Cockayne Syndrome Type 1
Failure to thrive, Uveitis, Increased blood urea nitrogen, Proteinuria, Renal insufficiency, Conj... ORPHA:90321
Eosinophilic Fasciitis
Myositis, Weight loss, Edema, Fasciitis, Arthritis, Muscular edema ORPHA:3165
Wild Type Attr Amyloidosis
Nephrotic syndrome, Weight loss, Pulmonary edema, Nephropathy, Pleural effusion, Pedal edema, Pro... ORPHA:330001
Cranioectodermal Dysplasia 1
Chronic kidney disease, Tubulointerstitial nephritis, Renal magnesium wasting, Hypocalcemia OMIM:218330
19Q13.11 Microdeletion Syndrome
Hypospadias, Cachexia, Failure to thrive ORPHA:217346
Cog2-Cdg
Decreased liver function ORPHA:435934
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Hepatic failure, Hepatic steatosis OMIM:261680
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Hydronephrosis, Feeding difficulties, Neurogenic bladder, Splenomegaly, Decreased l... OMIM:608779
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis, Hepatic failure, Portal hypertension OMIM:619431
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ethylmalonic aciduria, Microvesicular hepatic steatosis, Hepatomegaly, Vomiting, Bile duct prolif... OMIM:203700
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Hardikar Syndrome
Cholangitis, Intrahepatic bile duct cysts, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Prolo... OMIM:301068
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Feeding difficulties, Elevated gamma-glutamyltransferase level, Macroves... OMIM:618329
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Nausea and vomiting, Bloody diarrhea, Anorexia, Bowel urgency, Protracted diarrhea,... ORPHA:100075
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Hypophosphatemia, Proximal renal tubular acidosis, Oligosacchariduria, Peri... ORPHA:534
Peroxisome Biogenesis Disorder 6B
Decreased liver function OMIM:614871
Holocarboxylase Synthetase Deficiency
Eczema, Perioral eczema, Weight loss, Hyperammonemia, Keratoconjunctivitis, Organic aciduria ORPHA:79242
Silver-Russell Syndrome
Hypospadias, Failure to thrive in infancy, Cachexia, Abnormality of the urinary system, Obesity ORPHA:813
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Dehydration, Failure ... ORPHA:168558
Sepsis In Premature Infants
Hepatomegaly, Vomiting, Functional abnormality of the gastrointestinal tract, Gastrointestinal dy... ORPHA:90051
Rhabdoid Tumor
Hypercalcemia, Renal neoplasm, Hematuria, Weight loss ORPHA:69077
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Dehydration, Failure ... ORPHA:289548
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Weight loss, Cachexia, Slender build OMIM:603041
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Chronic hepatic failure, Splenomegaly... ORPHA:171
Myopathy, Centronuclear, X-Linked
Decreased liver function OMIM:310400
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Glomerular sclerosis, Nephrotic syndrome, Hepatic failure OMIM:607426
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Severe failure to thrive ORPHA:371364
Malignant Peritoneal Mesothelioma
Weight loss, Peritonitis, Ascites, Pedal edema ORPHA:168811
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Hereditary Fructose Intolerance
Hepatomegaly, Vomiting, Nausea, Abdominal distention, Reduced aldolase level, Renal insufficiency... ORPHA:469
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Ascites ORPHA:2198
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
Huntington Disease-Like 2
Weight loss ORPHA:98934
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Renal tubular dysfunction, Cholelithiasis, Hepatic failure OMIM:614886
Goodpasture Syndrome
Macroscopic hematuria, Weight loss, Cylindruria, Increased blood urea nitrogen, Erythrocyte cylin... OMIM:233450
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis OMIM:618161
Follicular Lymphoma
Weight loss, Pleural effusion, Lymphedema ORPHA:545
X-Linked Creatine Transporter Deficiency
Cachexia, Abnormal circulating creatine concentration ORPHA:52503
Pearson Syndrome
Small for gestational age, Lacticaciduria, Hypokalemia, Corneal stromal edema, Dehydration, Renal... ORPHA:699
Neonatal Lupus Erythematosus
Hepatomegaly, Splenomegaly, Abnormality of the liver, Hepatic failure, Elevated hepatic transaminase ORPHA:398124
Netherton Syndrome
Allergic rhinitis, Erythroderma, Angioedema, Failure to thrive, Hypernatremic dehydration OMIM:256500
Aicardi-Goutieres Syndrome 9
Pericarditis, Pericardial effusion, Ascites, Failure to thrive, Weight loss, Edema, Glomerular sc... OMIM:619487
Tyrosinemia, Type I
Hepatomegaly, Renal Fanconi syndrome, Hepatocellular carcinoma, Nephrocalcinosis, Glomerular scle... OMIM:276700
Pseudomyxoma Peritonei
Weight loss, Inflammation of the large intestine, Ascites ORPHA:26790
Autosomal Dominant Polycystic Kidney Disease
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... ORPHA:730
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence, Cachexia ORPHA:300605
Eosinophilic Gastroenteritis
Atopic dermatitis, Allergic rhinitis, Ascites, Weight loss, Edema, Hypoalbuminemia, Elevated circ... ORPHA:2070
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Oroticaciduria, Feeding difficulties, Hepatitis, Protein avoidance, Decreased liver... ORPHA:415
Zellweger Syndrome
Hypospadias, Hepatomegaly, Hydronephrosis, Feeding difficulties in infancy, Multicystic kidney dy... ORPHA:912
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Weight loss, Edema, Acne, Arthritis... ORPHA:324964
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Feeding difficulties in infancy, Intrahepatic biliary atresia, Congenital hepatic f... ORPHA:1454
X-Linked Intellectual Disability, Cabezas Type
Obesity, Cachexia, Hypoplasia of penis ORPHA:85293
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Nephrotic syndrome, Ascites, Abnormality of the urinary system, Myositis, H... ORPHA:93552
Paroxysmal Nocturnal Hemoglobinuria
Renal Fanconi syndrome, Reduced haptoglobin level, Hemoglobinuria, Unconjugated hyperbilirubinemi... ORPHA:447
Ileal Neuroendocrine Tumor
Gastrointestinal obstruction, Hydronephrosis, Nausea, Functional intestinal obstruction, Abnormal... ORPHA:100078
Jejunal Neuroendocrine Tumor
Gastrointestinal obstruction, Hydronephrosis, Nausea, Functional intestinal obstruction, Abnormal... ORPHA:100077
X-Linked Lymphoproliferative Disease
Inflammation of the large intestine, Decreased circulating IgA level, Increased circulating IgA l... ORPHA:2442
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Feeding difficulties in infancy, Myoglobinuria, Vomiting, Decreased 3-hydroxyacyl-CoA dehydrogena... ORPHA:71212
Retinal Venous Beading
Edema, Nephritis OMIM:180080
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Weight loss, Hematuria, Elevated urinary norepinephr... ORPHA:94080
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Ethylmalonic aciduria, Feeding difficulties in infancy, Dicarboxylic aciduria, Increased urine al... OMIM:619355
Liposarcoma
Weight loss, Abnormality of the kidney ORPHA:69078
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Feeding difficulties, Cholelithiasis, Splenomegaly, Decreased liver function, Chron... OMIM:618268
Duodenal Neuroendocrine Tumor
Gastrointestinal obstruction, Hydronephrosis, Nausea, Functional intestinal obstruction, Insulino... ORPHA:100076
Nephroblastoma
Weight loss, Hematuria, Nephroblastoma ORPHA:654
Polyarteritis Nodosa
Weight loss, Elevated circulating C-reactive protein concentration, Pericarditis, Abnormality of ... ORPHA:767
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Weight loss, Crohn's disease, Recurrent aphthous stomatitis,... OMIM:266600
Isaac Syndrome
Weight loss ORPHA:84142
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Nephritis, Arthritis, Malar rash OMIM:152700
Marburg Hemorrhagic Fever
Hyperamylasemia, Pericarditis, Hypokalemia, Dehydration, Elevated circulating creatine kinase con... ORPHA:99826
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Absence of renal corticomedullary differentiation, Hepatic failure, Splenomegaly OMIM:259720
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Urinary retention, Hepatosplenomegaly, Panhypogammaglobulinemia, Diarrhea, Elevated... ORPHA:79124
Fanconi Anemia, Complementation Group E
Horseshoe kidney, Ectopic kidney, Deficient excision of UV-induced pyrimidine dimers in DNA OMIM:600901
Primary Myelofibrosis
Cachexia ORPHA:824
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Nephritis, Stage 5 chronic kidney disease OMIM:609057
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hydronephrosis, Abdominal distention, Splenomegaly, Micropenis, Pancreatic lymphang... OMIM:235255
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Dicarboxylic aciduria, Oliguria, Hepatic failure, Elevated hepatic transaminase ORPHA:159
Fanconi Anemia, Complementation Group A
Horseshoe kidney, Ectopic kidney, Deficient excision of UV-induced pyrimidine dimers in DNA OMIM:227650
Acquired Central Diabetes Insipidus
Weight loss, Pollakisuria ORPHA:95626
Bronchial Neuroendocrine Tumor
Hepatomegaly, Anorexia, Bowel urgency, Protracted diarrhea, Poor appetite, Hepatic failure ORPHA:97287
Trisomy 18
Hydronephrosis, Oligohydramnios, Abnormality of the upper urinary tract, Cachexia ORPHA:3380
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Portal hyper... ORPHA:465508
Leigh Syndrome With Cardiomyopathy
Decreased liver function, Renal tubular acidosis, Dysphagia, Poor suck ORPHA:70474
X-Linked Agammaglobulinemia
Sinusitis, Recurrent cutaneous abscess formation, Failure to thrive, Chronic otitis media, Weight... ORPHA:47
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function OMIM:618839
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Elevated urinary epinephrine, Long penis, Dehydration, Failure to thr... ORPHA:90794
Farber Disease
Hepatic fibrosis, Feeding difficulties, Chronic diarrhea, Intrahepatic cholestasis with episodic ... ORPHA:333
Schwartz-Jampel Syndrome
Cachexia, Abnormality of the ureter, Abnormality of the urinary system, Elevated circulating crea... ORPHA:800
Trichohepatoenteric Syndrome 1
Hypospadias, Hepatomegaly, Hepatic fibrosis, Intractable diarrhea, Abnormality of the pancreas, C...