Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
solute carrier family 19, member 3
Synonyms:
ThTr2,  A230084E24Rik

IMPC Data Collections

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

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc19a3 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 Slc19a3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Lethargy, Vomiting, Dysphagia OMIM:607483
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Ataxia, Spastic tetraplegia, Tetraparesis ORPHA:263410

The table below shows human diseases predicted to be associated to Slc19a3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Spasticity, Gait ataxia, Choreoathetosis, ... ORPHA:225154
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Difficulty walking, Paralysis OMIM:608634
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Gliosis, Paralysis OMIM:300857
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonu... ORPHA:204
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Neuronal loss in central nerv... OMIM:600795
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... OMIM:105500
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... ORPHA:3032
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Astr... ORPHA:282166
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Vomi... OMIM:143880
Diaminopentanuria
Spasticity, Neurodegeneration, Ataxia OMIM:222350
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Failure to thrive, Lethargy ORPHA:28
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Astrocytosis OMIM:607341
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progres... ORPHA:101112
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Lethal Infantile Mitochondrial Myopathy
Lethargy, Fatal liver failure in infancy, Renal insufficiency ORPHA:254857
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Portal vein thrombosis, Hepatic necrosis, Hepatic fibrosis, Vomiting ORPHA:33402
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Weight loss, Aminoaciduria, Proximal tubulopathy, Vomiting, Failure to thrive OMIM:612075
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure ORPHA:60
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced myoglobinuria, E... OMIM:201475
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Hemochromatosis, Neonatal
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... OMIM:231100
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine, Lethargy, Failure to thri... ORPHA:26792
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Frontotemporal cerebral atrophy, Gait disturbance, Fasciculations, Abnormality of e... ORPHA:275864
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Episodic vomiting, Lethargy OMIM:618224
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... ORPHA:42
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive, Vomiting ORPHA:622
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Uraciluria, Failure to thrive, Reduced dihydropyrimidine dehydrogenase level OMIM:274270
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Neurodegeneration, Cerebral atrophy OMIM:610951
Methylmalonic Acidemia With Homocystinuria
Lethargy, Failure to thrive, Skin rash ORPHA:26
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Central Diabetes Insipidus
Diarrhea, Weight loss, Depression, Lethargy, Failure to thrive, Nocturia ORPHA:178029
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Elevated circ... OMIM:619386
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Diarrhea, Hepatic ne... ORPHA:71212
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA d... OMIM:231530
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... OMIM:231680
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Paralysis OMIM:613710
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... OMIM:251880
Spinocerebellar Ataxia 48
Cachexia, Urinary incontinence, Dysphagia, Depression OMIM:618093
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, F... ORPHA:2394
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... OMIM:143100
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Hereditary Central Diabetes Insipidus
Lethargy, Diarrhea, Vomiting, Weight loss ORPHA:30925
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr... ORPHA:100070
Multicentric Reticulohistiocytosis
Arthritis, Cachexia ORPHA:139436
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Vomiting, Medium chain dicarboxylic... OMIM:201450
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive ORPHA:79283
Diencephalic Syndrome
Long penis, Cachexia, Decreased body weight ORPHA:1672
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Cerebral atrophy, Paralysis OMIM:616286
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria ORPHA:79238
Complement Component 4B Deficiency
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... OMIM:614379
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Decreased liver function, Acute hepatitis, Failure to thrive, Episodic vomiting, Ho... OMIM:238970
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic p... OMIM:612319
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar degen... OMIM:601104
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... OMIM:255120
Horner Syndrome, Congenital
Paralysis OMIM:143000
Crigler-Najjar Syndrome
Lethargy, Jaundice, Abnormality of the liver, Infectious encephalitis ORPHA:205
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Proteinuria, Glomerulopa... ORPHA:77297
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:212140
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Dysphagia, Lethargy, Failure to thrive OMIM:613561
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Distal renal tubular acidosis, Hepatosplenomegaly, Nephrocalcinosis, Lethargy, Failu... OMIM:611590
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Neurodegeneration, Gait disturbance, S... OMIM:615643
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Parkinsonism, Corpus callosum atrophy, Rigidity, Bradykinesia, Gait disturbance, Gliosis, Shuffli... OMIM:221820
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Paralysis OMIM:605285
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spasticity OMIM:615889
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati... OMIM:607765
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Acute hepatic steatosis, Vomiting, Elevated urinary 3-methylcrotonylglycine level, Fai... OMIM:210200
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Vomiting, Macrovesicular hepatic steatosis, Increase... OMIM:600649
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Arthritis, Cirrhosis, Lethargy OMIM:602390
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Lethargy, Failure to thrive, Pancreatitis ORPHA:79312
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketonuria, Glycosuria, Lethargy, Failure to thrive ORPHA:2089
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... ORPHA:2137
Combined Oxidative Phosphorylation Deficiency 2
Elevated hepatic transaminase, Lethargy, Patent ductus arteriosus, Small for gestational age OMIM:610498
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial nephriti... OMIM:251000
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Diarrhea, In... ORPHA:263455
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, Hepatitis, Follicu... OMIM:300635
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal insufficiency, Renal tubular dysfunction, Lethargy, Pancreatitis ORPHA:289916
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Lethargy OMIM:246900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi... OMIM:162000
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Cachexia, Diarrhea, Dysphagia, Weight loss, Gastroesophageal reflu... ORPHA:298
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Jaundice, Nephroc... OMIM:613404
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu... OMIM:215600
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduri... ORPHA:26791
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Mitochondrial Complex I Deficiency, Nuclear Type 5
Hepatomegaly, Vomiting, Dysphagia, Lethargy, Failure to thrive, Episodic vomiting OMIM:618226
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Gait apraxia, Ba... OMIM:615157
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... OMIM:208085
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Constipation, Cachexia, Weight loss OMIM:613662
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Pustule, My... ORPHA:139402
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... OMIM:256810
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Parkinsonism, Rigidity, C... OMIM:607136
Developmental And Epileptic Encephalopathy 40
Lethargy, Small for gestational age OMIM:617065
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy, Herpes simplex encephalitis OMIM:617900
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Lethargy OMIM:619064
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Gai... OMIM:618369
Glycine Encephalopathy 1
Lethargy, Hyperglycinuria OMIM:605899
Nephronophthisis 18
Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membrane, Tubulointers... OMIM:615862
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Periodic paralysis OMIM:614198
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy... ORPHA:79230
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Vomiting, Abnormality... ORPHA:2552
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Renal tubular acidosis, Lethargy, Hepatic failure ORPHA:156
N-Acetylglutamate Synthase Deficiency
Lethargy, Failure to thrive, Vomiting OMIM:237310
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Chronic diarrhea, Weight loss, Acholic stools, Cholestat... ORPHA:65682
Idiopathic Achalasia
Gastroesophageal reflux, Weight loss, Recurrent aspiration pneumonia, Dysphagia ORPHA:930
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Hand tremor, Tetraplegia, Degeneration of anterior horn cells, Gliosis, Gait... OMIM:604484
Hepatoportal Sclerosis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... ORPHA:64743
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Difficulty walking, Astrocytosis OMIM:611087
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Vomiting, Lethargy OMIM:616483
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... OMIM:256600
Immunodeficiency 56
Failure to thrive, Cholangitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Cirrhosis,... OMIM:615207
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H... OMIM:614817
Wolman Disease
Hepatomegaly, Cachexia, Splenomegaly, Steatorrhea, Hepatic failure ORPHA:75233
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Lethargy, Hyperlysinuria OMIM:238750
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Decreased methionine synthase activity, Methylmalonic aciduria, Lethargy, Failure to thrive, Homo... OMIM:236270
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Propionic Acidemia
Hepatomegaly, Increased level of hippuric acid in urine, Eczema, Hyperglycinuria, Vomiting, Const... OMIM:606054
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy, Herpes simplex encephalitis OMIM:613002
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Leigh Syndrome
Failure to thrive, Hepatocellular necrosis OMIM:256000
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Decrease... OMIM:614922
Severe Canavan Disease
Lethargy, Gastroesophageal reflux, Vomiting, Oral-pharyngeal dysphagia ORPHA:314911
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, N... OMIM:618999
Trichohepatoenteric Syndrome 2
Hepatomegaly, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hep... OMIM:614602
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Hoffmann sig... OMIM:615491
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... ORPHA:37042
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu... OMIM:300894
Variegate Porphyria
Paralysis OMIM:176200
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy ORPHA:100024
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Splenomegaly, Diarrhea, Constipation, Letha... ORPHA:99745
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir... ORPHA:101330
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Nausea, Jaundice, Fulminant hepatitis, Hepatic failu... OMIM:618549
Citrullinemia Type I
Vomiting, Gastroesophageal reflux, Hepatic failure, Lethargy, Failure to thrive ORPHA:247525
Dihydropyrimidinase Deficiency
Lethargy, Uraciluria, Reduced dihydropyrimidine dehydrogenase level OMIM:222748
Idiopathic Intracranial Hypertension
Obesity, Depression, Vomiting, Lethargy, Nausea ORPHA:238624
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... OMIM:214950
Early Myoclonic Encephalopathy
Lethargy, Dysphagia ORPHA:1935
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79239
Febrile Infection-Related Epilepsy Syndrome
Lethargy, Sinusitis ORPHA:163703
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Transient aminoaciduria... OMIM:229600
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Substantia nigra gliosis, Facial-ling... ORPHA:276244
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Renal Hypoplasia, Bilateral
Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, Renal hypoplas... ORPHA:97362
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pancreatic cys... ORPHA:730
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Ileus, Weight loss ORPHA:83469
Aredyld Syndrome
Splenomegaly, Hepatomegaly, Abnormality of the ureter, Cachexia ORPHA:1133
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Carcinoid Syndrome
Elevated hepatic transaminase, Hepatic necrosis, Protracted diarrhea ORPHA:100093
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Hereditary Fructose Intolerance
Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Nausea, Jaundice, ... ORPHA:469
Moynahan Syndrome
Cachexia ORPHA:2574
Heme Oxygenase 1 Deficiency
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Aspleni... OMIM:614034
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Pancreatitis, Lethargy ORPHA:27
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Medullary Thyroid Carcinoma
Diarrhea, Weight loss, Dysphagia, Abnormal liver parenchyma morphology ORPHA:1332
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Glo... ORPHA:91138
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Diarrhea, Vomiting, Lethargy, Failure to thrive, Nausea ORPHA:927
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Diarrhea, Enuresis, Hepat... ORPHA:247585
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... OMIM:272750
Glutaric Acidemia Type 3
Lethargy, Glutaric aciduria, Ketonuria, Failure to thrive ORPHA:35706
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Diarrhea, Bronchiectasis, Hepatit... ORPHA:33110
Rabies
Vocal cord paresis, Cerebral palsy ORPHA:770
Myh9-Related Disease
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Nephropathy, Nephritis ORPHA:182050
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Diarrhea, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly... ORPHA:169160
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity ORPHA:803
Holocarboxylase Synthetase Deficiency
Eczema, Keratoconjunctivitis, Weight loss, Organic aciduria, Lethargy, Perioral eczema ORPHA:79242
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Diffuse pancreatic islet hyperplasia, Focal pancreatic i... ORPHA:276575
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... ORPHA:63
Lacrimoauriculodentodigital Syndrome 1
Renal agenesis, Coronal hypospadias, Xerostomia, Conjunctivitis, Nephrosclerosis OMIM:149730
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Large for gestational age, Lethargy, Hepatomegaly ORPHA:276556
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hemolytic-uremic syndrome, Abnormality of the liver, Vomiting, Lethargy, Failure ... ORPHA:2169
Acute Liver Failure
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Skin rash, Jaundice, Diarrhea, Hepati... ORPHA:90062
Machado-Joseph Disease Type 1
Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal... ORPHA:276241
Citrullinemia, Classic
Hepatomegaly, Failure to thrive, Vomiting, Cirrhosis, Lethargy, Oroticaciduria OMIM:215700
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Pancreatic islet-cell hyperplasia, Increased body weight ORPHA:276608
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Diarrhea, Hepatitis, Me... ORPHA:319218
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Caroli Disease
Liver abscess, Cholangitis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Vomiting,... ORPHA:53035
Maple Syrup Urine Disease
Lethargy, Increased level of hippuric acid in urine, Vomiting, Pancreatitis OMIM:248600
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... OMIM:609015
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Lethargy, Large for gestational age ORPHA:324575
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Cachexia, Splenomegaly, Myocar... ORPHA:3452
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Ketonuria, Methylmalonic aciduria, Vomiting, Decreased methylmalonyl-CoA mutase act... OMIM:251110
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis ORPHA:140989
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Failure to thrive, Vomiting OMIM:618228
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys... OMIM:608836
Biotinidase Deficiency
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Diarrhea... OMIM:253260
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Weight loss, Gastroesophageal reflux, Dysphagia ORPHA:2198
Riboflavin Deficiency
Lethargy, Dicarboxylic aciduria OMIM:615026
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia ORPHA:438134
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... ORPHA:90003
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Decreased methionine synthase activity, Patent ductus arteriosus, Methylmalonic aciduria, Gastroe... OMIM:614857
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Cachexia, Renal... ORPHA:275761
Cronkhite-Canada Syndrome
Splenomegaly, Hepatomegaly, Diarrhea, Cachexia ORPHA:2930
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Huntington Disease-Like 2
Weight loss, Bradykinesia, Depression, Apathy, Inertia OMIM:606438
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Large for gestational age, Lethargy, Hepatomegaly ORPHA:276580
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated serum transaminases during infections, Failure to thrive in infancy... OMIM:611182
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... OMIM:606159
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Chronic diarrhea, Ileus, Hepatitis, Arthritis, Erythroderma, Failure ... OMIM:304790
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Rigidity, Astrocytosis, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hypertoni... ORPHA:309854
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointerstitial nephritis, Hepatic fibro... OMIM:616629
Xanthinuria, Type I
Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Hydr... OMIM:278300
Idiopathic Congenital Hypothyroidism
Lethargy, Constipation, Prolonged neonatal jaundice ORPHA:95717
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Methylmalonic Acidemia With Homocystinuria Type Cblf
Skin rash, Unilateral renal agenesis, Methylmalonic aciduria, Reduced number of intrahepatic bile... ORPHA:79284
Argininosuccinic Aciduria
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, A... OMIM:207900
Transcobalamin Ii Deficiency
Hepatomegaly, Diarrhea, Methylmalonic aciduria, Vomiting, Lethargy, Failure to thrive OMIM:275350
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Splenomegaly, Weight loss, Arthritis, Apat... ORPHA:465508
Christianson Syndrome
Gastroesophageal reflux, Cachexia, Dysphagia ORPHA:85278
Idiopathic Bronchiectasis
Acute infectious pneumonia, Bronchiectasis, Cachexia ORPHA:60033
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy, Aminoaciduria, Failure to thrive OMIM:250620
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Ast... OMIM:203700
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Failure to thrive, 4-hydroxyphenylacetic aciduria, Microvesicular ... OMIM:617156
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, Vo... OMIM:251100
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Weight loss ORPHA:2023
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, 2-ethylhydracylic aciduria OMIM:610006
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge... OMIM:557000
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Chro... OMIM:209920
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Aminoaciduria, Methylmalonic aciduria ORPHA:1933
Scrub Typhus
Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Splenomegaly, Lethargy, Infectious... ORPHA:83317
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropathy, Nausea, Decreased g... ORPHA:85450
Pontocerebellar Hypoplasia, Type 6
Lethargy, Failure to thrive, Gastroesophageal reflux OMIM:611523
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Attrv30M Amyloidosis
Diarrhea, Weight loss, Constipation, Nephropathy, Abnormal renal physiology ORPHA:85447
Isolated Atp Synthase Deficiency
Hepatomegaly, 3-Methylglutaconic aciduria, Renal hypoplasia, Lethargy ORPHA:254913
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Patent ductus arteriosus, Abnormal renal corticomedu... OMIM:617397
Isovaleric Acidemia
Lethargy, Vomiting, Hyperglycinuria OMIM:243500
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... ORPHA:131
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss ORPHA:141152
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Vomiting OMIM:618225
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:614921
Renpenning Syndrome
Hypospadias, Cachexia ORPHA:3242
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Decreased methionine synthase activity, Skin rash, Small for gestational age, Cysta... OMIM:277380
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Renal fibrosis, Vomiting, Lethargy, Decreased glomerular filtration... ORPHA:470
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Babinski sign, Inability to walk by childhood/adolescence, Vocal cord paralysis,... ORPHA:99947
Primary Sclerosing Cholangitis
Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline ... ORPHA:171
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia ORPHA:93941
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Constipation, Failure to thrive in infancy, Cachexia OMIM:616801
Primary Myelofibrosis
Hepatomegaly, Portal hypertension, Cachexia, Splenomegaly, Hepatosplenomegaly, Increased circulat... ORPHA:824
Riboflavin Transporter Deficiency
Cachexia, Dysphagia ORPHA:97229
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Mcdonough Syndrome
Cachexia ORPHA:2471
Cyclic Vomiting Syndrome
Lethargy, Vomiting, Nausea OMIM:500007
Ring Chromosome 10 Syndrome
Cachexia, Renal hypoplasia/aplasia ORPHA:1438
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Renal i... OMIM:203800
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Organic aciduria, Vomiting, Propionyl-CoA carb... OMIM:210210
Pediatric Systemic Lupus Erythematosus
Dark urine, Myositis, Renal insufficiency, Skin rash, Proteinuria, Discoid lupus rash, Diarrhea, ... ORPHA:93552
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Oroticaciduria, Hepatitis, Decrea... ORPHA:415
Glioblastoma
Glioblastoma multiforme, Paralysis ORPHA:360
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Increased urinary glycerol, Lethargy OMIM:229700
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Stea... ORPHA:440713
Chronic Hiccup
Weight loss, Depression ORPHA:396
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Broad-based gait, Axonal degeneration, Vocal cord paralysis OMIM:615490
Intestinal Dysmotility Syndrome
Failure to thrive, Diarrhea, Projectile vomiting, Weight loss OMIM:620045
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Jaundice, Diarrhea, L... ORPHA:20
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Jaundice, 3-hydroxyisovaleric aciduria, Lactic... OMIM:615751
Legionnaires Disease
Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Diarrhea, He... ORPHA:549
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Diarrhea, Lethargy ORPHA:99828
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Clonus, Atrophy of the spi... OMIM:602433
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis OMIM:314300
Tuberculosis
Weight loss ORPHA:3389
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:86893
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Lethargy, Hepatic steatosis OMIM:212138
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy, Constipation ORPHA:101150
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest... ORPHA:26793
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul... OMIM:311250
Developmental And Epileptic Encephalopathy 41
Nephrocalcinosis, Lethargy OMIM:617105
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Weight loss, Arthritis, Infectious encephalitis ORPHA:42642
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Broad-based gait, Gait ataxia, Steppage gait, Difficulty walking, Loss of ambulation, Vocal cord ... OMIM:614895
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Vesicoureteral reflux, Bla... OMIM:301068
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... ORPHA:43
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Bowel incontinence, Nephropathy, Chronic diarrhea... ORPHA:330001
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, 3-Methylglutaconic aciduria OMIM:618120
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Failure to thrive, Splenomegaly, Diarrhea, Hepatitis, Chronic hepatitis, Sclerosing... OMIM:308230
Pelizaeus-Merzbacher Disease
Cachexia, Abnormality of the urinary system, Failure to thrive in infancy, Bowel incontinence ORPHA:702
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Intestinal obstruction, Weight loss, Inflammation of the large in... ORPHA:26790
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy, Small for gestational age OMIM:312170
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... ORPHA:36234
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Diarrhea, Ulcerative colitis, Weight loss, Inflammation of the large inte... OMIM:266600
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Oliguria, Lethargy, Hepatic f... ORPHA:159
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Vomiting, Lethargy OMIM:614299
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Meningococcal Meningitis
Renal insufficiency, Projectile vomiting, Skin rash, Lethargy, Infectious encephalitis ORPHA:33475
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Diarrhea, Xerostomia, Nephrolithia... OMIM:617321
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Diarrhea, Low alkaline phosphatase, Lethargy, Failure to thrive OMIM:201100
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Babinsk... OMIM:614298
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis OMIM:162500
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Lethal Congenital Contracture Syndrome 8
Vocal cord paralysis OMIM:616287
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Failure to thrive OMIM:610965
Necrotizing Enterocolitis
Small for gestational age, Peritonitis, Diarrhea, Bloody diarrhea, Vomiting, Lethargy ORPHA:391673
Nephroblastoma
Hematuria, Neoplasm of the liver, Nephroblastoma, Weight loss ORPHA:654
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Avian Influenza
Elevated hepatic transaminase, Pneumonia, Diarrhea, Hepatitis, Conjunctivitis, Vomiting, Increase... ORPHA:454836
Evans Syndrome
Lethargy, Jaundice ORPHA:1959
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Lacticaciduria, Hy... OMIM:605711
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy, Failure to thrive, Vomiting OMIM:237300
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Liver abscess, Abnormality of the kidney, Abnormality of the pancr... ORPHA:54251
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Chronic diarrhea, Bronchiectasis, Cholestasis, Vomiting, Gastroesophageal reflux, R... OMIM:620233
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methionine synthase activity, Renal insufficiency, Proteinuria, Hemolytic-uremic syndro... OMIM:277400
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Hemoglobinuria, Cholelithiasis OMIM:194380
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... ORPHA:781
Thyroid Dyshormonogenesis 1
Lethargy, Constipation OMIM:274400
Holocarboxylase Synthetase Deficiency
Skin rash, Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Vomiting, Lethargy, ... OMIM:253270
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Nephrotic... OMIM:617303
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co... ORPHA:158061
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Elevated circulating aspartate aminot... OMIM:614866
Familial Hypoaldosteronism
Decreased urinary potassium, Renal salt wasting, Diarrhea, Proximal renal tubular acidosis, Letha... ORPHA:427
Isolated Complex I Deficiency
Hepatomegaly, Proximal tubulopathy, Vomiting, Lethargy, Failure to thrive ORPHA:2609
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Secretory diarrhea, Grade II vesicoureteral reflux... OMIM:619377
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Silver-Russell Syndrome
Hypospadias, Failure to thrive in infancy, Cachexia, Obesity, Abnormality of the urinary system, ... ORPHA:813
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Constipation, Cachexia ORPHA:371364
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Splenomegaly, Myocarditis, ... ORPHA:829
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Nephrotic syndrome, Malar rash, Nephritis OMIM:603909
Beta-Thalassemia
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis ORPHA:848
Familial Thyroid Dyshormonogenesis
Lethargy, Constipation, Prolonged neonatal jaundice ORPHA:95716
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Diarrhea ORPHA:49827
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Pancreatic cysts... OMIM:208500
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Cirrhosis, Hepatic necrosis OMIM:127550
Glucose-Galactose Malabsorption
Renal insufficiency, Diarrhea, Nephrolithiasis, Weight loss, Hematuria, Vomiting, Failure to thrive ORPHA:35710
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Spastic diplegia, Cerebral atr... ORPHA:391428
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Babinski sign, Cerebral atrophy, Gait ataxia, Dysmetria, Bradykinesia... OMIM:610217
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... OMIM:608022
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Cachexia OMIM:618186
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Tubulointerstitial ne... OMIM:603860
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... ORPHA:456312
Rhabdoid Tumor
Hematuria, Neoplasm of the liver, Weight loss, Renal neoplasm ORPHA:69077
Wilson Disease
Acute hepatic failure, Osteoarthritis, Aminoaciduria, Vomiting, Hepatic steatosis, Hepatomegaly, ... OMIM:277900
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Gliosis, Shuffling gait, ... OMIM:168601
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy, Dysphagia OMIM:233910
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss OMIM:191390
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Diarrhea, Xerostomia, Hematochezia, Vomiting OMIM:175500
Pleural Mesothelioma
Hepatomegaly, Weight loss, Dysphagia ORPHA:50251
Melioidosis
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... ORPHA:31202
Late-Onset Isolated Acth Deficiency
Diarrhea, Hepatitis, Weight loss, Constipation, Lethargy, Failure to thrive, Hashimoto thyroiditis ORPHA:199299
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:301050
Charcot-Marie-Tooth Disease Type 4A
Inability to walk, Unsteady gait, Poor gross motor coordination, Poor fine motor coordination, Vo... ORPHA:99948
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Renal insufficienc... OMIM:619487
Krabbe Disease
Diffuse cerebral atrophy, Hypertonia, Neurodegeneration, Decerebrate rigidity, Progressive spasti... OMIM:245200
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Small for gestational age, Patent ductus arteriosus, Recurrent pneumonia, Lethargy, ... OMIM:607143
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Broad-based gait, Babinski sign, Hypertonia, Neurodegeneration, Gait disturbance,... ORPHA:79244
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Primary Biliary Cholangitis
Portal hypertension, Jaundice, Biliary cirrhosis, Hepatitis, Gastrointestinal inflammation, Abnor... ORPHA:186
Reticular Dysgenesis
Skin rash, Diarrhea, Weight loss, Chronic otitis media, Failure to thrive ORPHA:33355
Systemic Capillary Leak Syndrome
Pericarditis, Renal insufficiency, Myocarditis, Diarrhea, Oliguria, Weight loss, Pancreatitis, Ab... ORPHA:188
Tetrasomy 12P
Cachexia ORPHA:884
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:66661
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas... ORPHA:309246
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Splenomegaly, Chr... OMIM:613385
19Q13.11 Microdeletion Syndrome
Failure to thrive, Hypospadias, Cachexia ORPHA:217346
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Splenomegaly, Diarrhea, Hepatosplenomegaly, Weight lo... OMIM:209950
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Lethargy, Depression, Prolonged neonatal jaundice ORPHA:99832
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ... OMIM:610199
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Abnormality of the kidney, Keratitis, Bronchiectasis, Hepati... ORPHA:1163
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplen... ORPHA:228426
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epi... OMIM:307200
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis OMIM:607706
Cholera
Abnormality of renal excretion, Diarrhea, Vomiting, Aspiration pneumonia, Lethargy, Acute kidney ... ORPHA:173
Infantile Krabbe Disease
Abnormal circulating enzyme concentration or activity, Cachexia, Vomiting, Gastroesophageal reflu... ORPHA:206436
Snakebite Envenomation
Pseudobulbar paralysis, Respiratory paralysis, Paralysis ORPHA:449285
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methionine synthase activity, Methylmalonic aciduria, Decreased methylmalonyl-CoA mutas... OMIM:277410
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Diarrhea, Hepatosplenomegaly, Hepatocellular necr... OMIM:618278
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence, Cachexia, Dysphagia ORPHA:300605
Insulinoma
Lethargy, Abnormality of the pancreatic islet cells, Increased body weight ORPHA:97279
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Vomiting, Nephritis, Nausea, Infectiou... ORPHA:73263
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hepatomegaly, Lethargy OMIM:604377
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ... OMIM:269200
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated hepatic transaminase, Bipolar affective disorder, Gastroparesis, Depression, Bradykinesi... ORPHA:254892
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Cholestasis, Diffuse hepatic steatosis, Chronic hepatic failure, Le... ORPHA:746
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Elevated ga... ORPHA:100086
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Skin rash, Diarrhea, Acute otitis media, Chronic mucocutaneous candidiasis, Protracted... ORPHA:572
X-Linked Creatine Transporter Deficiency
Ileus, Constipation, Cachexia ORPHA:52503
Perry Syndrome
Weight loss, Apathy, Depression ORPHA:178509
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ... OMIM:300100
Listeriosis
Liver abscess, Conjunctivitis, Cholecystitis, Vomiting, Infectious encephalitis, Nausea, Pyelonep... ORPHA:533
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Tropical Pancreatitis
Pancreatic adenocarcinoma, Nausea, Jaundice, Weight loss, Chronic calcifying pancreatitis, Vomiti... ORPHA:103918
Griscelli Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Hepatitis ORPHA:381
Kaposi Sarcoma
Skin rash, Abnormality of the spleen, Diarrhea, Weight loss, Abnormality of the liver ORPHA:33276
Relapsing Polychondritis
Episcleritis, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, Chondritis of pinna... ORPHA:728
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Gastroparesis, Cachexia, Diarrhea, Weight loss, Constipation, Vomiting, Dysphagia, Intermittent d... OMIM:603041
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Diarrhea, Chronic mucocuta... OMIM:240300
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Laryngeal Neuroendocrine Tumor
Weight loss, Oral-pharyngeal dysphagia ORPHA:100083
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Liver abscess, Cholangitis, Pneumoni... ORPHA:183675
Congenital Myopathy 15
Waddling gait, Vocal cord paralysis OMIM:620161
Oculogastrointestinal Muscular Dystrophy
Gastroparesis, Cachexia ORPHA:1876
Susac Syndrome
Lethargy, Apathy ORPHA:838
Glycerol Kinase Deficiency
Increased urinary glycerol, Small for gestational age, Chronic pancreatitis, Lethargy, Episodic v... OMIM:307030
Peritoneal Cystic Mesothelioma
Peritonitis, Constipation, Weight loss ORPHA:168816
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Gliosis, Neurodegeneration, Spasticity, Neuronal loss in central nervous system OMIM:616239
Chronic Mucocutaneous Candidiasis
Recurrent urinary tract infections, Skin rash, Cheilitis, Hepatitis, Hematuria ORPHA:1334
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Splenomegaly, Di... OMIM:615846
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Lichen Planopilaris
Hepatitis ORPHA:525
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Pontocerebellar atrophy, Astrocytosis ORPHA:258
Huntington Disease-Like 2
Weight loss ORPHA:98934
Myasthenia Gravis
Myositis, Hepatitis, Glycosuria, Rheumatoid arthritis, Dysphagia, Hashimoto thyroiditis ORPHA:589
Rett Syndrome
Constipation, Gastroesophageal reflux, Cachexia OMIM:312750
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy, Failure to thrive OMIM:615838
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,... ORPHA:284
Igg4-Related Kidney Disease
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Cap Polyposis
Atrophic gastritis, Diarrhea, Weight loss, Hematochezia, Constipation ORPHA:160148
Oculopharyngodistal Myopathy
Loss of ambulation, Vocal cord paresis, Paraplegia, Difficulty walking ORPHA:98897
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sinusitis, Failure to thrive, Pneumonia, Atypical or prolonge... ORPHA:83471
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, D... ORPHA:49041
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss ORPHA:99978
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Pustule, Atopic dermatitis, Weight loss, Vomiting, C... ORPHA:171876
Japanese Encephalitis
Weakness due to upper motor neuron dysfunction, Paralysis, Paucity of anterior horn motor neurons... ORPHA:79139
Juvenile Huntington Disease
Bradykinesia, Weight loss, Depression ORPHA:248111
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Gliosis, Neurodegeneration, Brain atrophy OMIM:214150
Congenital Isolated Acth Deficiency
Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Recurrent urinary tract infections, Splenome... ORPHA:47612
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Asplenia, Patent ductus arteriosus, Horseshoe kidney, Abnor... ORPHA:99776
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Weight loss ORPHA:545
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Proteinuria, Abnormality of body weight, Osteoarthritis, Biliary cirrhosis,... ORPHA:2298
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Unsteady gait, Impaired tandem gait, Loss of ambulation, Vocal cord paresis, Frequent falls ORPHA:101097
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Obesity, Cachexia ORPHA:85293
Classic Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Skin rash, Weight loss ORPHA:391
Congenital Tufting Enteropathy
Chronic diarrhea, Secretory diarrhea, Weight loss, Arthritis, Cholestatic liver disease, Vomiting... ORPHA:92050
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Failure to thrive, Ethylmalonic aciduria OMIM:201470
Malignant Peritoneal Mesothelioma
Peritonitis, Ileus, Weight loss ORPHA:168811
Dominant Beta-Thalassemia
Failure to thrive in infancy, Hypersplenism, Splenomegaly, Jaundice, Diarrhea, Chronic hepatitis,... ORPHA:231226
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Xerostomia, Biliary cirrhosis, Hepatitis, Chronic mucocutaneou... ORPHA:227990
Genetic Transient Congenital Hypothyroidism
Lethargy, Constipation, Prolonged neonatal jaundice ORPHA:226316
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Plasminogen Deficiency, Type I
Nephrolithiasis, Nephritis, Conjunctivitis, Periodontitis OMIM:217090
Brucellosis
Liver abscess, Knee osteoarthritis, Abnormality of the liver, Vomiting, Infectious encephalitis, ... ORPHA:1304
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations ORPHA:682
Congenital Enterovirus Infection
Skin rash, Myocarditis, Hepatitis, Cholestasis, Hepatic failure, Infectious encephalitis ORPHA:292
Cockayne Syndrome Type 3
Unsteady gait, Astrocytosis, Difficulty walking, Brain atrophy, Intention tremor ORPHA:90324
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hepatomegaly, Failure to thrive, Hypospadias, Splenomegaly, Lacti... OMIM:252010
Non-Functioning Paraganglioma
Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr... ORPHA:94080
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Jaundice, Methylmaloni... ORPHA:79282
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Neurodegeneration, Gliosis, M... OMIM:618321
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Proteinuria, Chronic kidney disease, Hepatitis, Hematuria, Arthritis, Juven... ORPHA:1855
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, ... OMIM:614376
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Dia... ORPHA:100085
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Iridocyclitis, Xerostomia, Biliary cirrhosis, Hepatitis, Chronic mucocutaneou... ORPHA:227982
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Hematemesis, Jaundice, Hepatitis, Uveitis, Melena, Hema... ORPHA:319251
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Weight loss, Rhinitis ORPHA:507
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Cachexia, Steatorrhea ORPHA:3217
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Diarrhea, Bloody diarrhea, ... ORPHA:67
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Renal tubul... ORPHA:157
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Intestinal obstruction, Renal in... ORPHA:183
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Gastroparesis, Proteinuria, Abnor... ORPHA:85443
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Patent ductus arteriosus, Diarrhea, Weight loss, Failure to thrive ORPHA:1842
Sarcoidosis
Hepatomegaly, Renal insufficiency, Maculopapular exanthema, Portal hypertension, Erythema nodosum... ORPHA:797
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Patent ductus arteriosus, Horses... ORPHA:391641
Aggressive Systemic Mastocytosis