banner
Genes Phenotypes Help, News, Blog

Gene: Slc25a19 MGI:1914533

Log in to follow
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 25 (mitochondrial thiamine pyrophosphate carrier), member 19
Synonyms:
TPC,  MUP1,  DNC,  2900089E13Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc25a19 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 Slc25a19 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Organic aciduria, Lissencephaly, Agenes... ORPHA:99742
Microcephaly, Amish Type
Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Pri... OMIM:607196
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
OMIM:613710

The table below shows human diseases predicted to be associated to Slc25a19 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Type II lissencephaly OMIM:615041
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated hepat... OMIM:619355
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Thrombocytopenia, Aminoaciduria, Neutropenia, Umbilical hernia, Polymicrogyria, Anemia OMIM:614520
Glutaric Acidemia I
Ketonuria, Glutaric aciduria, Hydrocephalus, Lateral ventricle dilatation, Macrocephaly, Reduced ... OMIM:231670
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Thrombocytopenia, Methylma... OMIM:251100
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Ketonuria, Thrombocytopenia, Methylmalonic aciduria, Dehydration, Neutropenia, Decr... OMIM:251110
Frontal Encephalocele
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... ORPHA:1931
Methylmalonyl-Coa Epimerase Deficiency
Methylmalonic aciduria, Ketonuria, Dehydration OMIM:251120
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Microcephaly, Hemolytic-uremic syndrome, Megalobl... ORPHA:79282
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotransferase concen... OMIM:227810
Glutaric Acidemia Type 3
Glutaric aciduria, Abnormal periventricular white matter morphology, Ketonuria, Abnormal cerebral... ORPHA:35706
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Ketonuria, Edema, Microcephaly, Jaundice, Leukocytosis, Dehydratio... ORPHA:20
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketonuria, Glycosuria ORPHA:2089
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spina bifida, Spinal dysraphism ORPHA:3176
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Jaundice, Lacticaciduria, Elevated urine aceto... OMIM:615751
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Elevated circulating alanine aminotransferase concentration, Renal steatosis, Cerebral... OMIM:261680
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Ketonuria, Dehydration, Elevated hepatic transaminase OMIM:615453
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death, Ketonuria, Secondary microcephaly, Lacticaciduria OMIM:619167
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar vermis hypoplasia, Pericardial effusion, Elevated urine acetoacetic acid level, 3-Meth... OMIM:620089
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Joubert Syndrome 15
Micropenis, Exencephaly, Nephronophthisis OMIM:614464
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Renal hypoplasia, Oligohydramnios OMIM:619053
Congenital Toxoplasmosis
Elevated hepatic transaminase, Ventriculomegaly, Cerebral calcification, Microcephaly, Thrombocyt... ORPHA:858
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Neutropenia, Myoglobinuria OMIM:251900
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Glycosuria OMIM:618857
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Elevated urinary 3-methylcrotonylglycine level, Ketonuria, 3-hydroxyisovaleric aciduria OMIM:210200
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Monocarboxylate Transporter 1 Deficiency
Ketonuria OMIM:616095
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Ketonuria, Microcephaly, Cerebral atrophy, Myoglobinuria OMIM:616878
Dent Disease 2
Increased circulating lactate dehydrogenase concentration, Elevated circulating aspartate aminotr... OMIM:300555
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Propionyl-CoA carboxylase deficiency, Ketonuria, Hyperglycinuria, Organic aciduria OMIM:210210
Beta-Ketothiolase Deficiency
Ketonuria, Edema, Leukocytosis, Dehydration, Thrombocytosis ORPHA:134
Autism, Susceptibility To, 3
Ketonuria OMIM:608049
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated hepatic transaminase, Ketonuria, Global brain atrophy, Microcephaly ORPHA:480864
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Richards-Rundle Syndrome
Ketonuria ORPHA:1399
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Increased urinary glycerol, Ketonuria, Increased circulating lacta... ORPHA:247598
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha... OMIM:611134
Neural Tube Defects, Susceptibility To
Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Glyoxalase deficiency, Reduced... OMIM:231900
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Lacticaciduria, Alaninuria, Abnormal cerebral white matter morphol... OMIM:616299
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Dehydration, Renal tubular dysfunction, Glycos... ORPHA:99885
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Microcephaly, Thrombocytopenia, Neutropenia, Leukemia, Anemia OMIM:614082
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Schisis Association
Encephalocele, Renal agenesis, Spina bifida, Microcephaly, Anencephaly ORPHA:63862
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... ORPHA:101030
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria ORPHA:79644
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Organic aciduria, Lissencephaly, Agenes... ORPHA:99742
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida, Microcephaly ORPHA:64754
Hemihyperplasia, Isolated
Nephroblastoma, Myelomeningocele OMIM:235000
Galactosemia Iii
Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Decreased beta-galactosidase activity OMIM:230350
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Abnormality of chromosome stability, Pancytopenia, Microcephaly OMIM:600546
Alg3-Cdg
Abnormal circulating enzyme concentration or activity, Cerebral white matter atrophy, Microcephal... ORPHA:79321
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Reduced red cell pyruvate kinase level, Abnormal erythrocyte morph... ORPHA:766
Stimmler Syndrome
Intrauterine growth retardation, Aminoaciduria, Microcephaly ORPHA:3199
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Aplasia/... ORPHA:1908
Scorpion Envenomation
Ketonuria, Elevated circulating aspartate aminotransferase concentration, Edema, Glycosuria, Incr... ORPHA:466677
Isolated Hemihyperplasia
Nephroblastoma, Myelomeningocele ORPHA:2128
Focal Segmental Glomerulosclerosis 1
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced r... OMIM:603278
Humero-Radial Synostosis
Meningocele, Microcephaly ORPHA:3265
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level, Hypersegmentation of neutrophil nuc... OMIM:229100
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Enuresis, Neural tube defect, Hydromyelia, Incr... ORPHA:268810
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Renal cyst, Intrauterine growth retardation, Dandy-Walke... OMIM:603194
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Lacticaciduria, Neonatal death... OMIM:619003
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Jaundice, Hepatosplenomegaly, Aminoaciduria ORPHA:33574
Orotic Aciduria
Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum OMIM:207950
Molybdenum Cofactor Deficiency, Complementation Group A
Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Xanthine nephrolithiasis, I... OMIM:252150
Fumarase Deficiency
Relative macrocephaly, Bilateral fetal pyelectasis, Increased urine succinate level, Decreased fu... OMIM:606812
Neu-Laxova Syndrome 2
Polyhydramnios, Spina bifida, Edema, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Intraute... OMIM:616038
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Myelomen... ORPHA:1756
Formiminoglutamic Aciduria
Abnormal circulating enzyme concentration or activity, Abnormal concentration of acylcarnitine in... ORPHA:51208
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Congenital intracerebral calcification, Microcephaly OMIM:236795
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrocephalus, Hydrops fetalis, Anemia, Oligoh... ORPHA:163596
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Nonimmune hydrops fetalis, Thrombocytopenia, ... OMIM:617021
Triploidy
Hypoplasia of penis, Hypospadias, Polyhydramnios, Hydrocephalus, Meningocele, Aplasia/Hypoplasia ... ORPHA:3376
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Encephalocele, Hypospadias, Abnormal cortical gyration, Epispadias, Ex... ORPHA:2211
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methionine synthase activity, Renal insufficiency, Proteinuria, Microcephaly, Hemolytic... OMIM:277400
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Increased level of hippuric acid in urine, Microcephaly, Glutaric aciduria, Anemia, Abnormal cere... OMIM:246450
Galactosemia I
Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, Elevated circula... OMIM:230400
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo... OMIM:613673
Neurocutaneous Melanocytosis
Renal hypoplasia/aplasia, Meningocele, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker malform... ORPHA:2481
Icf Syndrome
Communicating hydrocephalus, Abnormality of chromosome stability, Abnormality of neutrophils, Mac... ORPHA:2268
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Microcephaly, Dysplastic corpus callosum, Lacticaciduria, Renal hypoplasia, Aminoac... OMIM:604273
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Microcephaly, Jaundice, Dehydration, Nephroc... OMIM:208085
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:245400
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Meningocele, Renal cyst, Biparietal narrowing, Ventriculomegaly ORPHA:2031
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Ketonuria, Hypospadias, Microcephaly, Partial agenesis of the corpu... OMIM:220111
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anisocyto... OMIM:224120
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Elevated circ... OMIM:619386
Galactose Epimerase Deficiency
Splenomegaly, Aminoaciduria, Jaundice ORPHA:79238
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Abnormal basal ganglia MRI signal intensity, Microcephaly, Renal tubular acidosis, Decreased acti... ORPHA:431361
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria OMIM:255100
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Proteinuria, Microcephaly, Jaundice, Nephroc... OMIM:613404
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Hydrocephalus, Abnormal urine alpha-ketoglutarate concentr... ORPHA:31
Lathosterolosis
Hypoplasia of penis, Cerebral calcification, Microcephaly, Intrahepatic cholestasis, Meningocele,... ORPHA:46059
Fanconi Anemia, Complementation Group R
Microcephaly, Chromosomal breakage induced by crosslinking agents, Hydrocephalus, Pelvic kidney, ... OMIM:617244
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Pyruvate Dehydrogenase Phosphatase Deficiency
Focal hyperintensity of cerebral white matter on MRI, Lacticaciduria ORPHA:79246
Hydroxykynureninuria
Aminoaciduria, Jaundice OMIM:236800
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria, Progressive microcephaly OMIM:614741
Combined Oxidative Phosphorylation Deficiency 36
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:617950
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cerebral calcification, Microcephaly, Methylmalonic aciduria, Aminoaciduria, Ventriculomegaly ORPHA:1933
Mosaic Trisomy 9
Hypoplasia of penis, Ventriculomegaly, Polyhydramnios, Spina bifida, Microcephaly, Asplenia, Pate... ORPHA:99776
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Cerebellar vermis hypoplasia, Cerebral calcification,... ORPHA:228308
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Mening... OMIM:614424
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Microcephaly, Meningocele, Abnormality of the ureter, Macrocephaly, Umbilical hernia... ORPHA:2311
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Organic aciduria OMIM:617184
Wildervanck Syndrome
Meningocele ORPHA:3456
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Occipital encephalocele, Renal insufficiency, Cerebellar vermis hy... ORPHA:397715
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hydrocephalus, Ureteral agenesis, Abnormality of the urinary syst... ORPHA:2437
Sacral Defect With Anterior Meningocele
Myeloschisis, Neurogenic bladder, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus trac... OMIM:600145
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida, Microcephaly ORPHA:1327
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methionine synthase activity, Megaloblastic anemia, Methylmalonic aciduria, Increased m... OMIM:277410
Isolated Klippel-Feil Syndrome
Spina bifida, Renal hypoplasia/aplasia ORPHA:2345
Gracile Syndrome
Intrauterine growth retardation, Aminoaciduria OMIM:603358
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria, Microcephaly ORPHA:833
Combined Oxidative Phosphorylation Deficiency 14
Diffuse cerebral atrophy, Ventriculomegaly, Microcephaly, Thrombocytopenia, Cerebral atrophy, Ami... OMIM:614946
Iniencephaly
Encephalocele, Renal agenesis, Spina bifida, Polyhydramnios, Myelomeningocele, Hydrocephalus, Ane... ORPHA:63259
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Cerebral calcification, Spina bifida, Microcephaly, Myelomeningocel... ORPHA:1393
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Ventriculomegaly, Renal agenesis, Aplastic anemia, Hydroceph... OMIM:300514
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Organic aciduria ORPHA:35
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Hypopl... OMIM:616546
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Cerebral atrophy... OMIM:616084
Tiglic Acidemia
Aminoaciduria OMIM:275190
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Leigh Syndrome
Encephalomalacia, Complex organic aciduria, Neutropenia, Focal T2 hyperintense basal ganglia lesi... ORPHA:506
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Microcephaly, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Thrombocytopenia OMIM:603585
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Aminoaciduria ORPHA:417
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Fountain Syndrome
Facial edema, Spina bifida occulta, Spina bifida, Macrocephaly ORPHA:3219
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Macrocephaly, Proxi... OMIM:231680
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Proteinuria, Polyuria, Agenesis of cerebe... OMIM:243910
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Glutaric aciduria, Lacticaciduria, Macrocephaly, 3-Methylglutaric ... ORPHA:26791
Fanconi Anemia, Complementation Group V
Microcephaly, Thrombocytopenia, Chromosomal breakage induced by crosslinking agents, Neutropenia,... OMIM:617243
Phenylketonuria
Aminoaciduria ORPHA:716
Neu-Laxova Syndrome
Ventriculomegaly, Cerebral calcification, Absent septum pellucidum, Spina bifida, Polyhydramnios,... ORPHA:2671
Sirenomelia
Sirenomelia, Abnormality of the urinary system, Spina bifida, Renal hypoplasia/aplasia ORPHA:3169
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Ventriculomegaly, Microcephaly, Thrombocytopenia, Enuresis, Renal... OMIM:619743
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Hypoplasia of the olfactory bulb, Agenesis of corpus callosum, Ventri... ORPHA:1827
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosus, Abnormality of the ureter, Amin... ORPHA:30
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Ventriculomegaly, Spina bifida ORPHA:1120
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxyli... OMIM:613070
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Mitochondrial Dna Depletion Syndrome 18
Lacticaciduria, Microcytic anemia OMIM:618811
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemi... OMIM:557000
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Abnormal basal ganglia morphology, Aminoaciduria, Cerebral atrophy OMIM:609560
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Portal hypertension, Microcephaly, Splenomegaly, Jaundice, General... OMIM:251880
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Aminoaciduria, Thiamine-responsive megaloblastic anemia, Thrombocytopenia OMIM:249270
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hepatic failure ORPHA:664
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Stage 5 chronic kidney disease,... OMIM:612925
Wilson Disease
Acute hepatic failure, Edema, Pedal edema, Aminoaciduria, Hemolytic anemia, Elevated circulating ... OMIM:277900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Leukoencephalopathy, Renal tubular dysfunction, Aminoaciduria, Re... OMIM:220110
Senior-Boichis Syndrome
Elevated hepatic transaminase, Diffuse cerebral atrophy, Thickening of the tubular basement membr... ORPHA:84081
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Leukoencephal... OMIM:605711
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria OMIM:619063
Chromosome 17P13.1 Deletion Syndrome
Diffuse cerebral atrophy, Spina bifida, Microcephaly, Hydrocephalus, Umbilical hernia, Oligohydra... OMIM:613776
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA d... OMIM:231530
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Hydronephrosis, Spina bifida ORPHA:2839
Fanconi Anemia
Leukopenia, Hypospadias, Spina bifida, Patent ductus arteriosus, Umbilical hernia, Anemia, Oligoh... ORPHA:84
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebral atrophy, Lacticaciduria, Reduced cerebral white matter volume OMIM:618247
Lumbar Syndrome
Renal agenesis, Hypospadias, Spina bifida, Myelomeningocele, Vesicoureteral reflux, Micropenis, B... ORPHA:83628
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem... OMIM:612926
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/aplasia, Myelome... ORPHA:93929
D-Glyceric Aciduria
Optic nerve hypoplasia, Microcephaly, Patent ductus arteriosus, Reduced hepatic D-glycerate kinas... OMIM:220120
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem... OMIM:612924
Lathosterolosis
Elevated hepatic transaminase, Increased mean platelet volume, Microcephaly, Acanthocytosis, Intr... OMIM:607330
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Renal tubular acidosis, Global brain atrophy... OMIM:616457
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Dehydration, Renal tubular dysfunction, Am... ORPHA:213
Curry-Jones Syndrome
Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Occipital meningocele, Polymicrogyria, ... OMIM:601707
Dermotrichic Syndrome
Aminoaciduria, Anemia ORPHA:99688
Vacterl With Hydrocephalus
Renal agenesis, Spina bifida, Polyhydramnios, Renal hypoplasia/aplasia, Aqueductal stenosis, Hydr... ORPHA:3412
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Microcytic anemia, Cerebral atrophy, Abnormal basal ganglia morphology, Methylmalonic aciduria, A... OMIM:612073
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, E... OMIM:616026
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
D-Lactic Aciduria With Gout
Lacticaciduria, Microcephaly OMIM:245450
Neu-Laxova Syndrome 1
Ventriculomegaly, Renal agenesis, Spina bifida, Polyhydramnios, Patent ductus arteriosus, Stillbi... OMIM:256520
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy OMIM:612075
Phakomatosis Pigmentokeratotica
Spina bifida, Lymphedema, Renal transitional cell carcinoma, Unilateral renal hypoplasia, Nephrob... ORPHA:2874
Exstrophy-Epispadias Complex
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Spina bifi... ORPHA:322
Brown-Vialetto-Van Laere Syndrome 2
Organic aciduria OMIM:614707
Trisomy 18
Spina bifida, Abnormality of the upper urinary tract, Microcephaly, Anencephaly, Aplasia/Hypoplas... ORPHA:3380
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria ORPHA:6
Combined Oxidative Phosphorylation Deficiency 19
Elevated circulating aspartate aminotransferase concentration, Lacticaciduria, Elevated gamma-glu... OMIM:615595
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Dehydration, Ne... ORPHA:18
Lateral Meningocele Syndrome
Neurogenic bladder, Patent ductus arteriosus, Meningocele, Hydrocephalus, Umbilical hernia OMIM:130720
Pagod Syndrome
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Microcephaly... ORPHA:991
Biotinidase Deficiency
Myelopathy, Organic aciduria, Decreased circulating biotinidase concentration ORPHA:79241
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Spina bifida, Hematuria, Nephrotic syndrome OMIM:161200
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Elevated alkaline phosphatase of bone origin, Chronic kidney di... ORPHA:411634
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Aciduria, Jaundice, Cerebral cortical neuro... OMIM:203700
Pearson Syndrome
Elevated hepatic transaminase, Reticulocytosis, Renal insufficiency, Pancytopenia, Proteinuria, M... ORPHA:699
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Edema of the dorsum of feet, Cerebellar vermis hypoplasi... OMIM:274000
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Trisomy 20P
Hypospadias, Abnormality of the kidney, Spina bifida, Abnormality of the ureter, Abnormal localiz... ORPHA:261318
Primary Hyperoxaluria
Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic ... ORPHA:416
Lysinuric Protein Intolerance
Elevated hepatic transaminase, Proteinuria, Glomerulonephritis, Ornithinuria, Thrombocytopenia, A... ORPHA:470
Knobloch Syndrome 1
Duplicated collecting system, Occipital encephalocele, Absent septum pellucidum, Microcephaly, Po... OMIM:267750
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Agenesis of corpus callosum OMIM:250620
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s... ORPHA:573278
Hawkinsinuria
Hawkinsinuria, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Microcephaly OMIM:140350
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Hemolytic anemia, Renal insufficiency, Reticulocytosis, Proteinuria, Pancytopeni... ORPHA:447
Aicardi Syndrome
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Dilated third ventricle, Partial agenes... OMIM:304050
Sialidosis Type 1
Splenomegaly, Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialy... ORPHA:812
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Polyhydramnios, Jaundice, 4-Hydrox... OMIM:617156
Methionine Malabsorption Syndrome
Aminoaciduria OMIM:250900
Interstitial Lung And Liver Disease
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615486
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Ventriculomegaly, Renal agenesis, Hypospadias, Spina bifida, Optic nerve hypoplasia, Microcephaly... ORPHA:508498
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Limb Body Wall Complex
Encephalocele, Abnormality of the kidney, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele ORPHA:2789
Holocarboxylase Synthetase Deficiency
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria, T... OMIM:253270
Focal Dermal Hypoplasia
Acute hepatic failure, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Pate... ORPHA:2092
Jacobsen Syndrome
Multicystic kidney dysplasia, Ventriculomegaly, Spina bifida, Cerebral atrophy, Macrocephaly, Int... ORPHA:2308
Peroxisome Biogenesis Disorder 2A (Zellweger)
Palpebral edema, Jaundice, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, ... OMIM:214110
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hypospadias, Microcephaly, Splenomegaly, Progressive macrocephaly... OMIM:252010
Tyrosinemia, Type Iii
Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria OMIM:276710
Holoprosencephaly 7
Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, L... OMIM:610828
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Patent ductus arteriosus, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, A... OMIM:214100
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Polyuria, Splenomegaly, Hypercalciuria, Aminoaciduria, Anemia OMIM:239200
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Dehydration, Nephr... ORPHA:47159
Holocarboxylase Synthetase Deficiency
Organic aciduria, Thrombocytopenia ORPHA:79242
22Q11.2 Deletion Syndrome
Hypospadias, Polyhydramnios, Spina bifida, Microcephaly, Splenomegaly, Hydrocephalus, Meningocele... ORPHA:567
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Renal artery stenosis, Macrocephaly OMIM:162200
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Organic aciduria OMIM:620191
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Dehydration, Abnormal tubulointerstitial morphology, Renal tubular dysfunction... ORPHA:411629
Fibular Hemimelia
Thrombocytopenia, Renal dysplasia, Spina bifida ORPHA:93323
Basal Cell Nevus Syndrome 1
Calcification of falx cerebri, Hydrocephalus, Spina bifida, Macrocephaly OMIM:109400
Cystinosis, Nephropathic
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Cerebral calcification, Splenomega... OMIM:219800
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Oroticaciduria, Elevated circulating aspartate aminotransferase concentration, Cerebral edema, El... OMIM:311250
Lysinuric Protein Intolerance
Thrombocytopenia, Splenomegaly, Stage 5 chronic kidney disease, Leukopenia, Aminoaciduria, Hyperl... OMIM:222700
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Dehydration, Ectopic kidney ORPHA:634
Phocomelia, Schinzel Type
Intrauterine growth retardation, Hypoplasia of penis, Meningocele, Hydrops fetalis ORPHA:2879
Biotinidase Deficiency
Splenomegaly, Diffuse cerebral atrophy, Organic aciduria, Decreased circulating biotinidase conce... OMIM:253260
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria, Elevated circulating aspartate aminotransferase concentration, Cer... OMIM:207900
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Renal agenesis, Porencephalic cyst, Occipital meningocele, Polymicr... OMIM:277170
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Ventriculomegaly, Proteinuria, Proximal renal tubular acidos... ORPHA:534
Pyruvate Carboxylase Deficiency
Cerebral white matter atrophy, Periventricular cysts, Lacticaciduria, Dehydration, Increased caud... ORPHA:3008
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Hypospadias, Spina bifida, Microcephaly, Fetal pyelectasis, H... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Hypospadias, Spina bifida, Microcephaly, Fetal pyelectasis, H... ORPHA:363958
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Renal neutrophilic tubulitis, Sterile pyuria, Renal interstitial edema, Macula... ORPHA:91500
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Oroticaciduria, Hepatitis, Multifocal cerebral white matter abnorm... ORPHA:415
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal death, Intrauterine growth retardation, Aminoaciduria, Microcephaly OMIM:619055
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Hallermann-Streiff Syndrome
Spina bifida, Microcephaly OMIM:234100
Campomelic Dysplasia
Relative macrocephaly, Hypospadias, Spina bifida, Polyhydramnios, Hydrocephalus, Spinal dysraphis... OMIM:114290
Vater/Vacterl Association
Renal dysplasia, Occipital encephalocele, Hypospadias, Renal agenesis, Spina bifida, Ectopic kidn... OMIM:192350
Liver Disease, Severe Congenital
Leukopenia, Aminoaciduria, Lymphocytosis, Hypospadias, Patent ductus arteriosus, Umbilical hernia... OMIM:619991
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Lacticaciduria, Cerebral atrophy, Tubulointerstitial nephritis, El... OMIM:124000
Mitochondrial Dna-Associated Leigh Syndrome
Multiple glomerular cysts, Abnormality of Krebs cycle metabolism, Lacticaciduria, Focal T2 hyperi... ORPHA:255210
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria ORPHA:23
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria ORPHA:414
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Lacticaciduria OMIM:618250
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... OMIM:309000
Rubinstein-Taybi Syndrome 1
Accessory spleen, Hypospadias, Polyhydramnios, Spina bifida, Microcephaly, Patent ductus arterios... OMIM:180849
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Microcephaly, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery steno... OMIM:617913
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria OMIM:273400
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Partial agenesis of the corpus callosum, Thin corpus callosum, Spina bi... OMIM:619480
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Oroticaciduria, Anemia OMIM:620358
Citrullinemia, Classic
Oroticaciduria, Cerebral edema OMIM:215700
X-Linked Intellectual Disability, Armfield Type
Patent ductus arteriosus, Aminoaciduria, Organic aciduria, Galactosuria, Macrocephaly, Cerebral c... ORPHA:85276
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Kanzaki Disease
Lymphedema, Increased urinary O-linked sialopeptides, White mater abnormalities in the posterior ... OMIM:609242
Microcephaly, Amish Type
Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Pri... OMIM:607196
Argininemia
Diaminoaciduria, Oroticaciduria OMIM:207800
Otopalatodigital Syndrome, Type Ii
Hypospadias, Spina bifida, Hydrocephalus, Stillbirth, Umbilical hernia, Hydronephrosis OMIM:304120
Marfan Syndrome
Meningocele ORPHA:558
Alkaptonuria
Joint swelling, Aminoaciduria, Nephrolithiasis ORPHA:56
Xeroderma Pigmentosum
Aminoaciduria, Cerebral cortical atrophy, Microcephaly ORPHA:910
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Hypospadias OMIM:276820
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
OMIM:613710

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc25a19

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc25a19.

No publications found that use IMPC mice or data for Slc25a19.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Slc25a19tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Slc25a19tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc25a19tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter