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Gene: Hpdl MGI:2444646

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Gene Summary

Name:
4-hydroxyphenylpyruvate dioxygenase-like
Synonyms:
A830048M07Rik,  Gloxd1

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased thigmotaxis Hpdlem1(IMPC)Mbp HET Early adult 4.15×10-05
enlarged heart Hpdlem1(IMPC)Mbp HET Early adult 0.00
abnormal retina vasculature morphology Hpdlem1(IMPC)Mbp HET Early adult 4.02×10-05
decreased prepulse inhibition Hpdlem1(IMPC)Mbp HET   Early adult 7.03×10-05
decreased anxiety-related response Hpdlem1(IMPC)Mbp HET Early adult 5.71×10-06
abnormal behavior Hpdlem1(IMPC)Mbp HET Early adult 4.28×10-05
abnormal heart morphology Hpdlem1(IMPC)Mbp HET Early adult 0.00
no spontaneous movement Hpdlem1(IMPC)Mbp HOM E18.5 0.00
abnormal skin morphology Hpdlem1(IMPC)Mbp HET Early adult 0.00
abnormal retina morphology Hpdlem1(IMPC)Mbp HET   Early adult 5.97×10-07
no spontaneous movement Hpdlem1(IMPC)Mbp HET E18.5 0.00
preweaning lethality, incomplete penetrance Hpdlem1(IMPC)Mbp HOM   Early adult 0.00

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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.

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MicroCT E18.5

Embryo reconstruction

8 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Seizure, Failure to thrive in infancy OMIM:619026
Spastic Paraplegia 83, Autosomal Recessive
Dysphagia OMIM:619027

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Seizure, Neurodegeneration OMIM:613068
Homocystinuria Without Methylmalonic Aciduria
Seizure, Failure to thrive, Cerebral cortical atrophy, Lethargy ORPHA:622
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Seizure, Failure to thrive, Lethargy ORPHA:79283
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Seizure, Myoclonus, Lethargy, Cerebral cortical atrophy OMIM:617065
Early Myoclonic Encephalopathy
Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ... ORPHA:1935
Dihydropyrimidine Dehydrogenase Deficiency
Seizure, Failure to thrive, Lethargy, Cerebral atrophy OMIM:274270
Methylmalonic Acidemia With Homocystinuria
Seizure, Failure to thrive, Lethargy ORPHA:26
Ethanolaminosis
Cardiomegaly OMIM:227150
Glut1 Deficiency Syndrome 1
Seizure, Paroxysmal lethargy, Myoclonus, Lethargy OMIM:606777
Diaminopentanuria
Seizure, Neurodegeneration OMIM:222350
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Seizure, Lethargy OMIM:617900
Developmental And Epileptic Encephalopathy 92
Seizure, Myoclonus, Lethargy OMIM:617829
Pontocerebellar Hypoplasia, Type 6
Cerebellar atrophy, Generalized-onset seizure, Cerebral atrophy, Seizure, Brain atrophy, Atrophy/... OMIM:611523
N-Acetylglutamate Synthase Deficiency
Seizure, Failure to thrive, Lethargy OMIM:237310
Central Diabetes Insipidus
Weight loss, Depression, Seizure, Lethargy, Failure to thrive ORPHA:178029
Ceroid Lipofuscinosis, Neuronal, 7
Generalized myoclonic seizure, Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:610951
Immunodeficiency 83, Susceptibility To Viral Infections
Seizure, Lethargy OMIM:613002
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Focal tonic seizure, Cerebral atrophy, Myoclonic... OMIM:617105
Glycine Encephalopathy 1
Seizure, Myoclonus, Lethargy OMIM:605899
Febrile Infection-Related Epilepsy Syndrome
Focal-onset seizure, Lethargy ORPHA:163703
Lethal Infantile Mitochondrial Myopathy
Seizure, Lethargy ORPHA:254857
Mitochondrial Complex I Deficiency, Nuclear Type 3
Seizure, Lethargy OMIM:618224
Mitochondrial Complex I Deficiency, Nuclear Type 4
Myoclonic seizure, Seizure, Myoclonus, Brain atrophy, Lethargy OMIM:618225
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Lethargy, Patent ductus arteriosus, Small for gestational age OMIM:610498
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Cerebral atrophy, Seizure, Lethargy, Failure to thrive, Cerebral cortical atrophy OMIM:236270
Gaba-Transaminase Deficiency
Seizure, Lethargy OMIM:613163
Short Chain Acyl-Coa Dehydrogenase Deficiency
Seizure, Failure to thrive, Lethargy ORPHA:26792
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Classic Glucose Transporter Type 1 Deficiency Syndrome
Seizure, Status epilepticus, Myoclonus, Lethargy ORPHA:71277
Severe Canavan Disease
Seizure, Bilateral tonic-clonic seizure, Lethargy ORPHA:314911
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Seizure, Brain atrophy, Lethargy, Failure to thrive OMIM:618226
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss ORPHA:30925
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Seizure, Lethargy OMIM:618232
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Cerebral atrophy, Seizure, Myoclonus, Lethargy OMIM:312170
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Seizure, Failure to thrive, Myoclonus, Lethargy OMIM:250620
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Seizure, Increased body weight, Lethargy ORPHA:276608
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Failure to thrive ORPHA:28
Idiopathic Intracranial Hypertension
Focal sensory seizure with olfactory features, Lethargy, Obesity, Depression ORPHA:238624
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Failure to thrive, Brain atrophy OMIM:618228
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Seizure, Lethargy OMIM:610006
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Seizure, Failure to thrive, Lethargy ORPHA:2089
Crigler-Najjar Syndrome
Seizure, Lethargy ORPHA:205
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Cerebral atrophy, Seizure, Neurodegeneration, Decreased body weight, Cerebral... OMIM:617672
Dihydropyrimidinase Deficiency
Seizure, Lethargy OMIM:222748
Dihydrolipoamide Dehydrogenase Deficiency
Seizure, Lethargy OMIM:246900
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Status epilepticus, Hypoglycemic seizures, Large for gestational age ORPHA:276556
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Combined Oxidative Phosphorylation Deficiency 11
Seizure, Stillbirth, Myoclonus, Neonatal death, Lethargy, Pachygyria, Cerebral cortical atrophy OMIM:614922
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Seizure, Failure to thrive, Lethargy OMIM:237300
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Status epilepticus, Hypoglycemic seizures, Large for gestational age ORPHA:276575
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy, Failure to thrive OMIM:613561
Hypercalcemia, Infantile, 1
Lethargy, Failure to thrive, Weight loss OMIM:143880
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Generalized myoclonic seizure, Lethargy, Failure to thrive, Cerebral cortical atrophy OMIM:238970
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Status epilepticus, Hypoglycemic seizures, Large for gestational age ORPHA:276580
Pyruvate Dehydrogenase E3 Deficiency
Seizure, Failure to thrive, Lethargy ORPHA:2394
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Seizure, Failure to thrive, Lethargy ORPHA:79312
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy, Small for gestational age, Hypoglycemic seizures, Large for gestational age ORPHA:324575
Citrullinemia Type I
Seizure, Failure to thrive, Lethargy ORPHA:247525
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebellar atrophy, Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Lethargy, Fai... OMIM:615838
Leukoencephalopathy With Vanishing White Matter 1
Seizure, Lethargy OMIM:603896
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Neurodegeneration, Depression OMIM:615643
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Focal-onset seizure, Atrophy of the spinal cord, Generalized non-... ORPHA:395
Cyclic Vomiting Syndrome
Seizure, Lethargy OMIM:500007
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy, Myoclonus ORPHA:101150
Hyperphenylalaninemia, Bh4-Deficient, B
Seizure, Lethargy OMIM:233910
Combined Oxidative Phosphorylation Deficiency 52
Seizure, Lethargy OMIM:619386
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Neurodegeneration, Depression OMIM:615889
Multiple Mitochondrial Dysfunctions Syndrome 1
Focal-onset seizure, Myoclonus, Neonatal death, Lethargy, Failure to thrive OMIM:605711
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Failure to thrive in infancy OMIM:619064
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Seizure, Neurodegeneration OMIM:300894
Glutaric Acidemia Type 3
Lethargy, Failure to thrive ORPHA:35706
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Bilateral tonic-clonic seizure OMIM:618120
Isovaleric Acidemia
Seizure, Lethargy OMIM:243500
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Myoclonic seizure, Seizure, Lethargy, Cerebral cortical atrophy ORPHA:254913
Holocarboxylase Synthetase Deficiency
Seizure, Lethargy, Weight loss ORPHA:79242
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic s... ORPHA:42
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Patent ductus arteriosus, Failure to thrive, Cerebral atrophy OMIM:614857
Riboflavin Deficiency
Lethargy OMIM:615026
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Seizure, Lethargy OMIM:600649
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Seizure, Failure to thrive, Lethargy OMIM:210200
Infantile Liver Failure Syndrome 2
Seizure, Lethargy OMIM:616483
Propionic Acidemia
Seizure, Failure to thrive, Lethargy, Cerebral atrophy OMIM:606054
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Seizure, Failure to thrive, Lethargy ORPHA:927
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly, Vitreous floaters ORPHA:85447
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Gray matter heterotopia, Seizure, Lethargy, Polymicrogyria OMIM:617397
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Seizure, Neurodegeneration, Atrophy/Degeneration affecting the brainstem OMIM:612319
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Methylcobalamin Deficiency Type Cble
Seizure, Failure to thrive, Brain atrophy, Lethargy ORPHA:2169
Krabbe Disease
Seizure, Diffuse cerebral atrophy, Failure to thrive, Neurodegeneration OMIM:245200
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Brain atrophy, Lethargy, Neuronal loss in central nervous s... OMIM:604377
Hsd10 Disease, Infantile Type
Restlessness, Cardiomegaly, Optic atrophy, Dysphagia, Hypertrophic cardiomyopathy, Rod-cone dystr... ORPHA:391428
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly ORPHA:858
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Carnitine Palmitoyl Transferase 1A Deficiency
Seizure, Lethargy ORPHA:156
Hjv Or Hamp-Related Hemochromatosis
Lethargy ORPHA:79230
Vitamin B12-Unresponsive Methylmalonic Acidemia
Seizure, Lethargy ORPHA:27
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Seizure, Lethargy OMIM:201450
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Failure to thrive OMIM:611590
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Classic Galactosemia
Seizure, Lethargy, Depression ORPHA:79239
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Seizure, Failure to thrive, Lethargy OMIM:201470
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Seizure, Myoclonus, Lethargy OMIM:614299
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Infantile spasms, Cerebral atrophy, Seizure, Neurodegeneration, Myoclonus, Lethargy OMIM:618321
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h... OMIM:252920
Insulinoma
Seizure, Increased body weight, Lethargy ORPHA:97279
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Seizure, Neurodegenerati... OMIM:214150
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebellar atrophy, Cerebral atrophy, Seizure, Focal impaired awareness seizure, Lethargy OMIM:620306
Maple Syrup Urine Disease
Seizure, Lethargy OMIM:248600
Susac Syndrome
Lethargy, Apathy ORPHA:838
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Seizure, Cerebral cortical atrophy, Lethargy OMIM:277410
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Cerebral atrophy, Seizure, Neurodegeneration, Neuronal loss in central nervou... OMIM:256600
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration ORPHA:438134
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Seizure, Increased body weight, Lethargy, Large for gestational age ORPHA:263455
Pyruvate Dehydrogenase Deficiency
Seizure, Lethargy ORPHA:765
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy ORPHA:49827
Carnitine Deficiency, Systemic Primary
Lethargy, Failure to thrive OMIM:212140
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Myoclonic seizure, Seizure, Neurodegeneration, Apathy OMIM:272750
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Pericardial constriction OMIM:253250
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Diminished motivation, Cerebral atrophy, Depression, Bradykinesia, Neurodegen... OMIM:615157
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Bilateral tonic-clonic seizure, Hepatocellular necrosis OMIM:201475
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Refsum Disease, Classic
Cardiomyopathy, Rod-cone dystrophy, Retinal degeneration, Cardiomegaly OMIM:266500
Carnitine Palmitoyltransferase I Deficiency
Seizure, Lethargy OMIM:255120
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Fructose-1,6-Bisphosphatase Deficiency
Seizure, Lethargy OMIM:229700
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly OMIM:614702
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Lethargy ORPHA:289916
Glycine Encephalopathy
Generalized myoclonic seizure, Seizure, Lethargy ORPHA:407
Biotinidase Deficiency
Seizure, Diffuse cerebral atrophy, Diffuse cerebellar atrophy, Lethargy OMIM:253260
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Seizure, Failure to thrive, Lethargy OMIM:210210
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Seizure, Neurodegeneration OMIM:620210
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Axonal degeneration, Neurodegeneration, Myoclonic spasms, Diffuse... ORPHA:478029
Citrullinemia, Classic
Seizure, Failure to thrive, Lethargy OMIM:215700
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Methylmalonic Acidemia With Homocystinuria Type Cblf
Seizure, Failure to thrive, Lethargy ORPHA:79284
Scrub Typhus
Seizure, Lethargy ORPHA:83317
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cherry red spot of the macula OMIM:256550
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy, Failure to thrive, Small for gestational age OMIM:609015
Congenital Disorder Of Glycosylation, Type Ig
Lethargy, Patent ductus arteriosus, Failure to thrive, Small for gestational age OMIM:607143
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration, Depression ORPHA:803
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Evans Syndrome
Lethargy ORPHA:1959
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Lethargy, Failure to thrive, Hypoglycemic seizures, Hepatic necrosis ORPHA:71212
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy, Failure to thrive OMIM:251000
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Failure to thrive, Generalized-onset seizure, Small for gestational age, Macr... OMIM:614866
Meningococcal Meningitis
Seizure, Lethargy ORPHA:33475
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Macular edema, Depression, Irrita... ORPHA:247691
Citrullinemia Type Ii
Seizure, Mania, Decreased body mass index, Lethargy ORPHA:247585
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Seizure, Status epilepticus, Neurodegeneration, Neuronal loss in central nerv... OMIM:616239
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Typhoid
Lethargy ORPHA:99745
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Generalized myocl... ORPHA:79241
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... OMIM:300280
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:269920
Carnitine-Acylcarnitine Translocase Deficiency
Seizure, Lethargy OMIM:212138
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Lethargy, Depression ORPHA:99832
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy, Patent ductus arteriosus, Failure to thrive, Small for gestational age OMIM:277380
Mitochondrial Trifunctional Protein Deficiency
Seizure, Failure to thrive in infancy, Lethargy ORPHA:746
Methylmalonic Aciduria, Cbla Type
Seizure, Failure to thrive, Lethargy OMIM:251100
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Seizure, Failure to thrive, Lethargy OMIM:311250
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Optic atrophy, Cardiomegaly, Depression OMIM:619259
Gm2 Gangliosidosis, Ab Variant
Seizure, Neurodegeneration, Cerebral atrophy ORPHA:309246
Ogden Syndrome
Lethargy, Cerebral atrophy ORPHA:276432
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, Attention deficit hyperactivity disorder, Depression OMIM:618798
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Seizure, Generalized myoclonic seizure, Lethargy, Failure to thrive, Cerebral cortical atrophy ORPHA:415
Sim1-Related Prader-Willi-Like Syndrome
Obesity, Seizure, Abdominal obesity, Lethargy, Failure to thrive ORPHA:398079
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Seizure, Lethargy OMIM:607483
Holocarboxylase Synthetase Deficiency
Seizure, Lethargy OMIM:253270
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Seizure, Polymicrogyria, Abnormality of neuronal migration, Lethargy OMIM:608836
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Seizure, Failure to thrive, Cerebral cortical atrophy, Lethargy OMIM:277400
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Familial Thyroid Dyshormonogenesis
Lethargy ORPHA:95716
Renal Hypoplasia, Bilateral
Lethargy, Failure to thrive, Small for gestational age ORPHA:97362
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss, Seizure, Apathy, Myoclonus, Lethargy ORPHA:20
Symptomatic Form Of Hfe-Related Hemochromatosis
Lethargy, Apathy, Weight loss ORPHA:465508
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Bipolar affective disorder, Depression, Bradykinesia, Seizure, Lethargy, Fail... ORPHA:254892
Necrotizing Enterocolitis
Lethargy, Small for gestational age ORPHA:391673
Argininosuccinic Aciduria
Seizure, Failure to thrive, Lethargy OMIM:207900
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Lethargy, Small for gestational age, Obesity ORPHA:26793
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Failure to thrive OMIM:201100
Late-Onset Isolated Acth Deficiency
Seizure, Failure to thrive, Lethargy, Weight loss ORPHA:199299
Carnitine-Acylcarnitine Translocase Deficiency
Seizure, Lethargy ORPHA:159
Methylmalonic Aciduria, Cblb Type
Lethargy, Failure to thrive OMIM:251110
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Transcobalamin Ii Deficiency
Lethargy, Failure to thrive OMIM:275350
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Encephalitis Lethargica
Seizure, Lethargy ORPHA:83600
Magel2-Related Prader-Willi-Like Syndrome
Increased body weight, Seizure, Abdominal obesity, Lethargy, Failure to thrive ORPHA:398069
Familial Hypoaldosteronism
Lethargy, Failure to thrive ORPHA:427
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Infantile spasms, Atrophy of the spinal cord, Cerebral atrophy, Seizure, Lethargy, Failure to thrive ORPHA:79282
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
Dengue Fever
Lethargy ORPHA:99828
Mucopolysaccharidosis Type 3
Hepatomegaly, Hyperactivity, Aggressive behavior, Cardiomegaly, Hypersexuality, Splenomegaly, Opt... ORPHA:581
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Seizure, Neurodegeneration OMIM:610217
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Myoclonus OMIM:608643
Staphylococcal Necrotizing Pneumonia
Lethargy ORPHA:36238
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Focal-onset seizure, Seizure, Neurodegeneration, Periventricular heterotopia OMIM:618476
Hemochromatosis, Type 1
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:235200
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Addictive alcohol use, Left ventricular hype... ORPHA:57777
Glycerol Kinase Deficiency
Seizure, Small for gestational age, Lethargy OMIM:307030
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Failure to thrive, Depression ORPHA:90674
Cholera
Seizure, Lethargy ORPHA:173
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Agitation, Restlessness, Depression ORPHA:100924
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Lethargy, Failure to thrive OMIM:620233
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Adrenoleukodystrophy
Seizure, Neurodegeneration OMIM:300100
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Lethargy, Failure to thrive, Bilateral tonic-clonic seizure OMIM:252010
Hydranencephaly
Seizure, Cerebral cortical atrophy, Lethargy ORPHA:2177
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Hereditary Fructose Intolerance
Seizure, Lethargy ORPHA:469
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Neurodegeneration OMIM:606159
Cirrhosis, Familial
Lethargy OMIM:215600
Isolated Complex I Deficiency
Lethargy, Failure to thrive ORPHA:2609
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:615491
Cerebral Visual Impairment
Central nervous system degeneration, Seizure, Neurodegeneration ORPHA:447788
Sandhoff Disease
Hepatomegaly, Cherry red spot of the macula, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Kufor-Rakeb Syndrome
Bradykinesia, Apathy, Myoclonus, Lethargy, Cerebral cortical atrophy ORPHA:306674
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Retinopathy, Cardiomegaly OMIM:603903
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Amyloid deposition in the vitreous humor, Cardiomegaly OMIM:105210
Histiocytoid Cardiomyopathy
Seizure, Failure to thrive, Lethargy ORPHA:137675
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Genetic Transient Congenital Hypothyroidism
Lethargy ORPHA:226316
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Complete Atrioventricular Septal Defect
Lethargy, Failure to thrive ORPHA:1329
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Ebola Hemorrhagic Fever
Lethargy ORPHA:319218
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Atrial septal defect, Left ventric... ORPHA:79330
Pineoblastoma
Seizure, Lethargy ORPHA:251909
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Lethargy, Failure to thrive OMIM:617156
Pearson Marrow-Pancreas Syndrome
Lethargy, Failure to thrive, Small for gestational age OMIM:557000
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Seizure, Lethargy ORPHA:68
Fructose Intolerance, Hereditary
Seizure, Failure to thrive, Lethargy OMIM:229600
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy OMIM:615751
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy ORPHA:90673
Semilobar Holoprosencephaly
Depression, Seizure, Apathy, Lethargy, Failure to thrive ORPHA:220386
Alobar Holoprosencephaly
Depression, Seizure, Apathy, Lethargy, Failure to thrive ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Depression, Seizure, Apathy, Lethargy, Failure to thrive ORPHA:93926
Lobar Holoprosencephaly
Depression, Seizure, Apathy, Lethargy, Failure to thrive ORPHA:93924
Trichinellosis
Lethargy, Apathy ORPHA:863
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Dysphagia OMIM:608013
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Medulloblastoma
Lethargy ORPHA:616
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy, Dysphagia ORPHA:268
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Posterior Urethral Valve
Lethargy ORPHA:93110
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Seizure, Neurodegeneration, Cerebral atrophy OMIM:616878
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Neurodegeneration, Depression OMIM:614298
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Inappropriate laughter, Cardiomegaly OMIM:618143
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Mucopolysaccharidosis, Type Ii
Seizure, Neurodegeneration OMIM:309900
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Atrial septal defect, Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivit... ORPHA:353281
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Fucosidosis
Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Cardiomegaly OMIM:230000
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Neurodegeneration OMIM:146500
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Irritability OMIM:618278
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:614921
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega... OMIM:300967
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Fatigable weakness of respiratory muscles, Fatigable weakness of swal... ORPHA:365
Multiple Endocrine Neoplasia Type 1
Lethargy, Weight loss, Atypical absence status epilepticus, Depression ORPHA:652
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Lethargy ORPHA:226307
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Neurodegeneration OMIM:615919
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:308552
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... OMIM:602782
Abetalipoproteinemia
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Rod-cone dystrophy, Hypopigmenta... ORPHA:14
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Retinal atrophy, Optic atrophy, Cardiomegaly ORPHA:97297
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Infantile spasms, Overweight, Clonic seizure, Focal-onset seizure, Obesity, Depression, Seizure, ... OMIM:619475
Diamond-Blackfan Anemia
Lethargy, Small for gestational age ORPHA:124
Chediak-Higashi Syndrome
Seizure, Neurodegeneration OMIM:214500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly ORPHA:228308
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration ORPHA:79244
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Lysinuric Protein Intolerance
Lethargy, Failure to thrive ORPHA:470
Marburg Hemorrhagic Fever
Seizure, Lethargy, Atypical absence status epilepticus ORPHA:99826
Exercise-Induced Malignant Hyperthermia
Seizure, Lethargy ORPHA:466650
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Neurodegeneration With Brain Iron Accumulation 1
Depression, Bradykinesia, Neurodegeneration, Cerebral degeneration, Global brain atrophy OMIM:234200
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Hurler Syndrome
Neurodegeneration OMIM:607014
Mucopolysaccharidosis, Type Vii
Neurodegeneration OMIM:253220
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:232300
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy OMIM:218700
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney OMIM:252500
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Choroidal neovascularization, Cardiomegaly, Pericardial effusion, Abnorm... ORPHA:51608
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Irritability, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:51
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior... ORPHA:353277
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... ORPHA:904
Eisenmenger Syndrome
Lethargy, Patent ductus arteriosus ORPHA:97214
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... OMIM:619991
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Splenomegaly, Choroideremia, Hypertrophic cardiomyopathy, Visceromega... ORPHA:116
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney OMIM:130650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Nijmegen Breakage Syndrome
Neurodegeneration OMIM:251260
Paroxysmal Nocturnal Hemoglobinuria
Lethargy ORPHA:447
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot ORPHA:3472
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:256040
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Seizure, Failure to thrive in infancy OMIM:619026
Primrose Syndrome
Seizure, Neurodegeneration, Truncal obesity OMIM:259050
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250
Spastic Paraplegia 83, Autosomal Recessive
Dysphagia OMIM:619027

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 Hpdl

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 Hpdl.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition. Genetics in medicine : official journal of the American College of Medical Genetics (November 2020) Hpdlem1Jgg 33188300

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MGI Allele Allele Type Produced
Hpdlem1(IMPC)Mbp Whole-gene deletion Mice
Hpdltm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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