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Gene: Mrpl3 MGI:2137204

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Gene Summary

Name:
mitochondrial ribosomal protein L3
Synonyms:
dcr,  2010320L16Rik,  5930422H18Rik

Order Alleles

IMPC Data Collections

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
increased circulating alkaline phosphatase level Mrpl3em1(IMPC)J HET Early adult 3.80×10-18
embryonic lethality prior to organogenesis Mrpl3em1(IMPC)J HOM   E9.5 0.00
preweaning lethality, complete penetrance Mrpl3em1(IMPC)J HOM   Early adult 0.00
increased mean corpuscular hemoglobin concentration Mrpl3em1(IMPC)J HET Early adult 7.78×10-05
increased hemoglobin content Mrpl3em1(IMPC)J HET   Early adult 8.25×10-05
increased circulating bilirubin level Mrpl3em1(IMPC)J HET   Early adult 5.72×10-05

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Sleep Wake

Wake state (bmp file)

6 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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PDF thumbnail PDF
Electroretinography 2

Rod and cone PDF

3 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Mrpl3 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 Mrpl3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Combined Oxidative Phosphorylation Deficiency 9
Hyperalaninemia OMIM:614582

The table below shows human diseases predicted to be associated to Mrpl3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Progressive Non-Fluent Aphasia
Mental deterioration, Temporal cortical atrophy, Depression, Frontotemporal cerebral atrophy, Mem... ORPHA:100070
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis OMIM:179700
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Memory impairment, Inappropriate behavior, Astrocytosis, Disinhibition... OMIM:600795
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Mental deterioration, Memory impairment, Frontotemporal cerebral atrophy, A... ORPHA:275864
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Folate-resp... OMIM:601775
Malaria
Anemia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia ORPHA:673
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Elliptocytosis 2
Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:612653
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:616649
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Sporadic Creutzfeldt-Jakob Disease
Memory impairment, Cerebral atrophy, Akinetic mutism, Confusion, Astrocytosis, Cognitive impairme... ORPHA:204
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Homocystinuria Without Methylmalonic Aciduria
Dementia, Cerebral cortical atrophy, Lethargy, Failure to thrive ORPHA:622
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia OMIM:268150
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic an... OMIM:235700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concen... OMIM:620010
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:182900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Inherited Creutzfeldt-Jakob Disease
Central nervous system degeneration, Global brain atrophy, Depression, Akinetic mutism, Confusion... ORPHA:282166
Alzheimer Disease 9, Susceptibility To
Cerebral cortical atrophy, Memory impairment, Depression, Neurofibrillary tangles, Hippocampal at... OMIM:608907
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Mental deterioration, Lethargy, Gliosis OMIM:613002
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... OMIM:619868
Spinocerebellar Ataxia 48
Mental deterioration, Depression, Cerebellar atrophy, Cachexia, Dysphagia OMIM:618093
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Huntington Disease-Like 2
Cerebral cortical atrophy, Depression, Memory impairment, Apathy, Weight loss, Inertia, Dementia,... OMIM:606438
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Cerebral atrophy, Agenesis of corpus callosum, Lethargy, Hyperactivity OMIM:274270
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Glycine Encephalopathy 1
Agenesis of corpus callosum, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Memory impairment, Lateral ventricle dilatation, Neurofibrillary tangl... OMIM:607485
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Cognitive impairment OMIM:607341
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Pick Disease Of Brain
Diminished motivation, Inappropriate laughter, Disinhibition, Polyphagia, Apathy, Frontotemporal ... OMIM:172700
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, Increased serum bile aci... OMIM:616278
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Red... OMIM:266200
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Aids Wasting Syndrome
Cachexia, Weight loss, Anorexia ORPHA:90081
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive, Anorexia ORPHA:79283
Huntington Disease-Like 1
Cerebral cortical atrophy, Depression, Cerebellar atrophy, Memory impairment, Abnormal posturing,... ORPHA:157941
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Reticulo... OMIM:618892
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Mental deterioration, Lethargy OMIM:617900
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Huntington Disease-Like 2
Cerebral cortical atrophy, Memory impairment, Caudate atrophy, Weight loss, Dementia ORPHA:98934
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... ORPHA:71275
Developmental And Epileptic Encephalopathy 40
Cerebral cortical atrophy, Lethargy, Small for gestational age OMIM:617065
Ceroid Lipofuscinosis, Neuronal, 7
Neurodegeneration, Mental deterioration, Cerebellar atrophy, Cerebral atrophy OMIM:610951
Neurodegeneration With Brain Iron Accumulation 6
Mental deterioration, Depression, Neurodegeneration, Motor tics, Compulsive behaviors, Bradykinesia OMIM:615643
Supranuclear Palsy, Progressive, 1
Memory impairment, Neurofibrillary tangles, Cerebral atrophy, Frontolimbic dementia, Astrocytosis... OMIM:601104
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Christianson Syndrome
Cerebral cortical atrophy, Cerebellar atrophy, Inappropriate laughter, Thick eyebrow, Cachexia, D... ORPHA:85278
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis ORPHA:713
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Glut1 Deficiency Syndrome 1
Confusion, Paroxysmal lethargy, Lethargy OMIM:606777
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive, Astrocytosis, Atrophy/Degeneration involving the caudate nucleus, Dysphagia, B... ORPHA:225154
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolyti... ORPHA:288
Huntington Disease
Mental deterioration, Degeneration of the striatum, Depression, Memory impairment, Decreased body... ORPHA:399
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Progressive neurologic deterioration, Cachexia, Weight loss, Failure to thrive OMIM:612075
Glycogen Storage Disease Vii
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocyto... OMIM:232800
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Amyotrophic Lateral Sclerosis
Depression, Amyotrophic lateral sclerosis, Neurodegeneration, Cachexia, Frontotemporal dementia, ... ORPHA:803
Dystonia 31
Depression, Dysphagia, Abnormal posturing OMIM:619565
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Moynahan Syndrome
Cachexia, Alopecia, Sparse hair ORPHA:2574
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Memory impairment, Global brain atrophy, Neurofibrillary tangles, Amyotrophic lateral sclerosis, ... OMIM:619132
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Central Diabetes Insipidus
Depression, Polydipsia, Failure to thrive, Lethargy, Weight loss, Anorexia ORPHA:178029
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatosplenomegaly, Hyperbilirubinemia, Hyperthreoninemia, Increased LDL cholesterol concentratio... ORPHA:247598
Pontocerebellar Hypoplasia, Type 6
Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Lethargy, Atr... OMIM:611523
Alexander Disease Type I
Cachexia, Cerebellar atrophy, Dysphagia, Failure to thrive ORPHA:363717
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Juvenile Huntington Disease
Depression, Cerebellar atrophy, Cerebellar vermis atrophy, Weight loss, Hyperactivity, Dementia, ... ORPHA:248111
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Leukoencephalopathy, Progressive, With Ovarian Failure
Depression, Cerebellar atrophy, Lateral ventricle dilatation, Neurodegeneration, Dementia OMIM:615889
Methylmalonic Acidemia With Homocystinuria
Lethargy, Failure to thrive ORPHA:26
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Progressive neurologic deterioration, Increased body weight, Lethargy, Agitation ORPHA:276608
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss, Polydipsia ORPHA:30925
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Flynn-Aird Syndrome
Dementia, Cerebral cortical atrophy, Alopecia, Cachexia ORPHA:2047
Cyclic Vomiting Syndrome
Attention deficit hyperactivity disorder, Lethargy, Cognitive impairment, Anorexia OMIM:500007
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Neurodegen... OMIM:617672
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Leukoencephalopathy With Vanishing White Matter 1
Lethargy, Memory impairment, Gliosis OMIM:603896
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Cachexia, Dysphagia, Aggressive behavior ORPHA:97229
Glycogen Storage Disease Xii
Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Elevated circulat... OMIM:611881
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Confusion, Lethargy, Cognitive impairment, Delirium, Motor stereotypy, Agitation ORPHA:927
Hereditary Spherocytosis
Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary... ORPHA:822
Early Myoclonic Encephalopathy
Lethargy, Dysphagia ORPHA:1935
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Failure to thrive, Lethargy, Dysphagia, Brain atrophy OMIM:618226
Mulibrey Nanism
Cachexia ORPHA:2576
Crigler-Najjar Syndrome
Lethargy, Memory impairment, Cognitive impairment ORPHA:205
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Gaba-Transaminase Deficiency
Lethargy, Agenesis of corpus callosum OMIM:613163
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Dementia, Senile plaques, Neurofibrillary tangles DECIPHER:48
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Neurodegeneration With Brain Iron Accumulation 5
Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Aggressive behavio... OMIM:300894
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Classic Glucose Transporter Type 1 Deficiency Syndrome
Confusion, Lethargy ORPHA:71277
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Lipoyltransferase 1 Deficiency
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin OMIM:616299
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Brain atrophy, Failure to thrive OMIM:618228
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Small for gestational age, Agenesis of corpus callosum OMIM:610498
Gerstmann-Straussler Disease
Memory impairment, Depression, Cerebellar atrophy, Neurofibrillary tangles, Aggressive behavior, ... OMIM:137440
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Cerebral cortical atrophy, Lethargy, Failure to thrive, Cerebral atrophy OMIM:236270
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Failure to thrive ORPHA:26792
Spongiform Encephalopathy With Neuropsychiatric Features
Memory impairment, Neurofibrillary tangles, Aggressive behavior, Gliosis, Dementia OMIM:606688
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy, Head titubation, Failure to thrive, Agenesis of corpus callosum OMIM:250620
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine... OMIM:614300
Chronic Hiccup
Depression, Abnormal eating behavior, Weight loss ORPHA:396
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Astrocytosis OMIM:611087
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Attention deficit hyperactivity disorder, Weight loss, Cognitive impairment, ... ORPHA:216866
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Confusion, Aggressive behavior, Lethargy, Cognitive impairment, Anorexia OMIM:237310
Diaminopentanuria
Neurodegeneration OMIM:222350
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Confusion, Cerebral cortical atrophy, Lethargy, Failure to thrive OMIM:238970
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Global brain atrophy, Cerebral atrophy OMIM:616801
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Cachexia, Head titubation, Cognitive impairment, Dysphagia ORPHA:300605
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Hypermanganesemia, Polycythemia, Increased total iron binding ca... OMIM:613280
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy, Small for gestational age, Cerebral atrophy, Agenesis of corpus callosum OMIM:312170
Hepatoportal Sclerosis
Hypoalbuminemia, Hypersplenism, Leukopenia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, A... ORPHA:64743
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Rett Syndrome
Cerebral cortical atrophy, Bruxism, Stereotypical hand wringing, Cachexia, Motor deterioration OMIM:312750
Susac Syndrome
Confusion, Lethargy, Apathy, Cognitive impairment ORPHA:838
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Splenomegaly OMIM:269920
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy, Dysphagia, Failure to thrive OMIM:613561
Mohr-Tranebjaerg Syndrome
Mental deterioration, Dysphagia, Abnormal posturing OMIM:304700
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Cronkhite-Canada Syndrome
Alopecia, Dystrophic toenail, Sparse body hair, Anorexia, Dystrophic fingernails, Patchy alopecia... ORPHA:2930
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Severe Canavan Disease
Lethargy, Oral-pharyngeal dysphagia ORPHA:314911
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Bradykinesia OMIM:618683
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral cortical atrophy, Depression, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, D... OMIM:615157
Mantle Cell Lymphoma
Weight loss, Anorexia ORPHA:52416
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy OMIM:618224
Early-Onset Autosomal Dominant Alzheimer Disease
Cerebral cortical atrophy, Memory impairment, Neurofibrillary tangles, Confusion, Disinhibition, ... ORPHA:1020
Fetal Cytomegalovirus Syndrome
Anemia, Conjugated hyperbilirubinemia, Splenomegaly, Thrombocytopenia ORPHA:294
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:618858
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Brain atrophy OMIM:618225
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Lethargy, Gliosis, Neuronal loss in central nervous system,... OMIM:604377
Mcdonough Syndrome
Cachexia, Synophrys ORPHA:2471
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Mitochondrial Neurogastrointestinal Encephalomyopathy
Dementia, Cachexia, Weight loss, Dysphagia ORPHA:298
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Splenomegaly OMIM:235555
Alzheimer Disease 4
Memory impairment, Neurofibrillary tangles, Cognitive impairment, Dementia, Senile plaques, Cereb... OMIM:606889
Pulmonary Blastoma
Weight loss ORPHA:64741
Perry Syndrome
Apathy, Depression, Weight loss, Dementia ORPHA:178509
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Cerebellar atrophy, Failure to thrive, Neurodegeneration, Agenesis of ... OMIM:214150
Renpenning Syndrome
Thin eyebrow, Alopecia, Cachexia, Abnormal hairshaft morphology ORPHA:3242
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Polyphagia, Lethargy, Small for gestational age, Agitation ORPHA:324575
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Extram... ORPHA:79303
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:610582
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Failure to thrive, Abnormal posturing, Cerebral atrophy OMIM:614857
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529799
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy, Neurodegener... OMIM:610217
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Global brain atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Lethargy, Atrophy/... OMIM:615838
Hyperphenylalaninemia, Bh4-Deficient, B
Progressive neurologic deterioration, Lethargy, Dysphagia OMIM:233910
Glutaric Acidemia Type 3
Lethargy, Failure to thrive, Impulsivity ORPHA:35706
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Failure to thrive ORPHA:28
Citrullinemia Type Ii
Memory impairment, Decreased body mass index, Confusion, Abnormal eating behavior, Aggressive beh... ORPHA:247585
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia, Lethargy, Large for gestational age, Agitation ORPHA:276556
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Lymphocytosis, Iron deficiency... ORPHA:1667
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Lethargy, Long eyelashes, Synophrys OMIM:619064
Idiopathic Achalasia
Weight loss, Dysphagia ORPHA:930
Hereditary Late-Onset Parkinson Disease
Cerebral cortical atrophy, Mental deterioration, Depression, Impulsivity, Apathy, Weight loss, Gl... ORPHA:411602
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia, Lethargy, Large for gestational age, Agitation ORPHA:276575
Classic Galactosemia
Attention deficit hyperactivity disorder, Mental deterioration, Lethargy, Depression ORPHA:79239
Central Neurocytoma
Lethargy, Abnormal lateral ventricle morphology, Depression ORPHA:73256
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia, Lethargy, Large for gestational age, Agitation ORPHA:276580
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Cachexia ORPHA:42
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Hypercalcemia, Infantile, 1
Lethargy, Weight loss, Failure to thrive OMIM:143880
Holocarboxylase Synthetase Deficiency
Lethargy, Alopecia, Weight loss, Anorexia ORPHA:79242
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Neurodegeneration, Mental deterioration, Cerebellar atrophy, Atrophy/Degeneration affecting the b... OMIM:612319
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Hyperbilirubinemia ORPHA:79302
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Cerebral cortical neurodegeneration, Ast... OMIM:203700
Infantile Krabbe Disease
Mental deterioration, Failure to thrive, Diffuse cerebral atrophy, Cachexia, Progressive neurolog... ORPHA:206436
Perry Syndrome
Depression, Inappropriate behavior, Disinhibition, Apathy, Frontotemporal dementia, Weight loss, ... OMIM:168605
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Pontocerebellar atrophy, Decreased body weight, Cognitive impairment, Dysphagia ORPHA:258
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Lethargy, Failure to thrive, Cerebral atrophy OMIM:250940
Idiopathic Intracranial Hypertension
Lethargy, Depression, Obesity ORPHA:238624
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Cerebral atrophy, Inappropriate behavior, Neurodegeneration, Cogn... ORPHA:309246
Neurodegeneration With Brain Iron Accumulation 3
Neurodegeneration, Disinhibition, Dysphagia, Dementia, Bradykinesia, Subcortical dementia OMIM:606159
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Alzheimer Disease 3
Cerebral cortical atrophy, Memory impairment, Neurofibrillary tangles, Dementia, Dysphagia OMIM:607822
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Lethargy, Failure to thrive, Anorexia ORPHA:79312
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:606176
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal hair morphology, Cachexia, Weight loss, Premature graying of hair ORPHA:1979
Tetrasomy 12P
Cachexia, Sparse eyebrow, Sparse hair ORPHA:884
Carnitine Deficiency, Systemic Primary
Confusion, Lethargy, Failure to thrive OMIM:212140
Insulinoma
Increased body weight, Transient global amnesia, Lethargy, Polyphagia ORPHA:97279
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Anorexia OMIM:619386
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Cerebellar atrophy OMIM:618186
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy OMIM:246900
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Generalized hirsutism, Cachexia ORPHA:1933
Supranuclear Palsy, Progressive, 2
Memory impairment, Neurofibrillary tangles, Frontolimbic dementia, Apathy, Gliosis, Neuronal loss... OMIM:609454
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cerebral cortical atrophy, Cachexia ORPHA:702
Krabbe Disease
Neurodegeneration, Motor deterioration, Failure to thrive, Diffuse cerebral atrophy OMIM:245200
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Self-injurious behavior, Severe failure to thrive, Cachexia ORPHA:371364
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Anorexia ORPHA:49827
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Bradykinesia ORPHA:101150
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Increased body weight, Lethargy, Progressive neurologic deterioration,... ORPHA:263455
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Developmental And Epileptic Encephalopathy 41
Lethargy, Cerebral atrophy OMIM:617105
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Mental deterioration, Failure to thrive, Lethargy, Atrophy of the spinal cord, Cognitive impairme... ORPHA:395
X-Linked Creatine Transporter Deficiency
Cachexia, Hyperactivity, Self-mutilation ORPHA:52503
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Undifferentiated Pleomorphic Sarcoma
Weight loss, Anorexia ORPHA:2023
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Failure to thrive, Sparse or absent eyel... ORPHA:217346
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hemolytic anemia OMIM:608885
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Failure to thrive, Anorexia OMIM:611590
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Neurodegeneration, Aggressive behavior, Lethargy, Gliosis OMIM:618321
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Hyper... OMIM:259720
Laryngeal Neuroendocrine Tumor
Weight loss, Oral-pharyngeal dysphagia, Anorexia ORPHA:100083
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Conjugated hyperbilirubinemia, Splenomegaly OMIM:607765
Riboflavin Deficiency
Lethargy OMIM:615026
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Confusion, Lethargy, Dysphagia OMIM:607483
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Reticulo... OMIM:557000
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Adrenoleukodystrophy
Mental deterioration, Alopecia, Neurodegeneration, Attention deficit hyperactivity disorder, Deme... OMIM:300100
Pyruvate Dehydrogenase E3 Deficiency
Lethargy, Failure to thrive ORPHA:2394
Aredyld Syndrome
Aplasia/Hypoplasia of the eyebrow, Cachexia, Sparse body hair ORPHA:1133
X-Linked Intellectual Disability, Cabezas Type
Obesity, Aggressive behavior, Abnormal hair pattern, Cachexia, Hyperactivity, Synophrys ORPHA:85293
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia ORPHA:93941
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Propionic Acidemia
Lethargy, Failure to thrive, Cerebral atrophy OMIM:606054
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Nail dystrophy, Anorexia OMIM:175500
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated circulating alpha-f... OMIM:251880
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Short attention span, Titubation, Bradykinesia, Dysphagia ORPHA:225147
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Isolated Atp Synthase Deficiency
Cerebral cortical atrophy, Lethargy, Cerebellar atrophy ORPHA:254913
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... OMIM:618278
Lathosterolosis
Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia, Anisopoikiloc... OMIM:607330
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Dystonia 1, Torsion, Autosomal Dominant
Dysphagia, Depression, Cerebellar atrophy, Abnormal posturing OMIM:128100
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:95716
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Cerebellar atrophy ORPHA:438134
Hjv Or Hamp-Related Hemochromatosis
Lethargy ORPHA:79230
Methylcobalamin Deficiency Type Cble
Lethargy, Brain atrophy, Failure to thrive ORPHA:2169
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Failure to thrive, Increased body weight, Polyphagia, Lethargy, Skin-pi... ORPHA:398069
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Dihydropyrimidinase Deficiency
Lethargy, Hyperactivity, Failure to thrive OMIM:222748
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... OMIM:617156
Citrullinemia Type I
Lethargy, Failure to thrive ORPHA:247525
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Cockayne Syndrome Type 3
Dry hair, Premature graying of hair, Astrocytosis, Cognitive impairment, Progressive neurologic d... ORPHA:90324
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Whipple Disease
Cachexia, Depression, Polydipsia, Anorexia ORPHA:3452
Ogden Syndrome
Cerebral atrophy, Lethargy, Fine hair, Aplasia/Hypoplasia of the eyebrow ORPHA:276432
Primary Myelofibrosis
Cachexia, Anorexia ORPHA:824
Alzheimer Disease 2
Dementia, Neurofibrillary tangles OMIM:104310
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia, Splenomegaly OMIM:613812
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Staphylococcal Necrotizing Pneumonia
Confusion, Lethargy, Addictive alcohol use ORPHA:36238
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy OMIM:618120
Neurodegeneration With Brain Iron Accumulation 4
Mental deterioration, Depression, Cerebellar atrophy, Neurodegeneration, Abnormal lower motor neu... OMIM:614298
Alzheimer Disease, Familial, 1
Dementia, Neurofibrillary tangles OMIM:104300
Fatal Familial Insomnia
Dementia, Weight loss, Dysphagia, Neuronal loss in central nervous system OMIM:600072
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Failure to thrive ORPHA:2089
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss, Dementia, Dysphagia OMIM:603041
Kufor-Rakeb Syndrome
Cerebral cortical atrophy, Mental deterioration, Confusion, Short attention span, Lethargy, Apath... ORPHA:306674
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Hepatosplenomegaly, Stomatocytosis, Conjugated hyperbilirubinemia ORPHA:168577
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Lethargy ORPHA:289916
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Senile plaques, Neurofibrillary tangles OMIM:605055
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Gliosis, Neuronal loss in central nervou... OMIM:256600
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Gm2-Gangliosidosis, Ab Variant
Neurodegeneration, Apathy, Cerebral atrophy, Dementia OMIM:272750
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Cerebral atrophy, Neurodegeneration, Diffuse cerebral atrophy, P... ORPHA:391428
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy, Failure to thrive OMIM:237300
Seckel Syndrome
Cachexia, Cognitive impairment, Sparse scalp hair ORPHA:808
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Parkinson Disease 23, Autosomal Recessive Early-Onset
Dementia, Cerebral cortical atrophy, Neurofibrillary tangles, Mental deterioration OMIM:616840
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu... ORPHA:447
Nijmegen Breakage Syndrome
Mental deterioration, Glioma, Abnormal hair morphology, Low anterior hairline, Attention deficit ... ORPHA:647
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
Wolman Disease
Cachexia ORPHA:75233
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c... OMIM:608836
Majeed Syndrome
Cachexia, Weight loss, Failure to thrive ORPHA:77297
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia... ORPHA:3008
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Failure to thrive, Obesity, Polyphagia, Lethargy, Skin-picking, Abdomin... ORPHA:398079
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Thrombocytopenia OMIM:208085
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Anorexia ORPHA:86893
Adult-Onset Dystonia-Parkinsonism
Frontotemporal cerebral atrophy, Depression, Neurofibrillary tangles, Frontotemporal dementia, Ge... ORPHA:199351
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Neurodegeneration, Agenesis of corpus callosum, Gliosis, Neuronal loss in cen... OMIM:616239
Autosomal Dominant Progressive External Ophthalmoplegia
Depression, Cerebellar atrophy, Failure to thrive, Bipolar affective disorder, Lethargy, Cognitiv... ORPHA:254892
Graft Versus Host Disease
Hepatosplenomegaly, Hyperbilirubinemia, Hemophagocytosis ORPHA:39812
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cerebral cortical atrophy, Failure to thrive, Dementia, Confusion, Lethargy, Delirium, Small for ... OMIM:277400
Cystic Echinococcosis
Eosinophilia, Hyperbilirubinemia, Splenic cyst ORPHA:400
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,... ORPHA:79277
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Cerebral cortical atrophy, Failure to thrive, Confusion, Lethargy, Cognitive impairment ORPHA:415
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Erythrokeratodermia Variabilis
Abnormal hair morphology, Alopecia, Weight loss, Generalized hirsutism ORPHA:317
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Dysphagia ORPHA:2198
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Obesity ORPHA:813
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Isovaleric Acidemia
Lethargy OMIM:243500
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Mental deterioration, Memory impairment, Failure to thrive, Cerebral atrophy, Dementia, Lethargy,... ORPHA:79282
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Mental deterioration, Depression, Global brain atrophy, Neurodegeneration, Obsessive... OMIM:234200
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy ORPHA:27
Pyruvate Dehydrogenase Deficiency
Lethargy ORPHA:765
Caroli Syndrome
Hypersplenism, Hyperbilirubinemia, Leukocytosis, Leukopenia, Thrombocytopenia, Conjugated hyperbi... ORPHA:480520
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Confusion, Lethargy, Failure to thrive ORPHA:71212
Fumarase Deficiency
Hyperbilirubinemia, Polycythemia OMIM:606812
Typhoid
Lethargy ORPHA:99745
Multiple Mitochondrial Dysfunctions Syndrome 1
Lethargy, Failure to thrive OMIM:605711
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Combined Oxidative Phosphorylation Deficiency 11
Cerebral cortical atrophy, Lethargy OMIM:614922
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy OMIM:614299
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Failure to thrive OMIM:210200
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Isolated Thyroid-Stimulating Hormone Deficiency
Attention deficit hyperactivity disorder, Lethargy, Depression, Failure to thrive ORPHA:90674
Evans Syndrome
Lethargy ORPHA:1959
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Neurodegeneration, Long eyelashes, Inappropriate laughter, Agenesis of corp... OMIM:618476
Biotinidase Deficiency
Diffuse cerebellar atrophy, Lethargy, Alopecia, Diffuse cerebral atrophy OMIM:253260
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
Meningococcal Meningitis
Lethargy, Anorexia ORPHA:33475
Cerebral Visual Impairment
Neurodegeneration, Attention deficit hyperactivity disorder, Central nervous system degeneration,... ORPHA:447788
Wilson Disease
Hypouricemia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Increased circulating copper con... OMIM:277900
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy, Small for gestational age, Failure to thrive OMIM:609015
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Confusion, Cachexia ORPHA:220295
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Bradykinesia, Astrocytosis ORPHA:309854
Congenital Disorder Of Glycosylation, Type Ig
Lethargy, Small for gestational age, Failure to thrive OMIM:607143
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Alopecia of scalp, Failure to thrive OMIM:201100
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy OMIM:618232
Pseudo-Torch Syndrome 2
Lethargy, Lateral ventricle dilatation OMIM:617397
Allergic Bronchopulmonary Aspergillosis
Cerebral cortical atrophy, Weight loss ORPHA:1164
Symptomatic Form Of Hfe-Related Hemochromatosis
Lethargy, Apathy, Weight loss ORPHA:465508
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy, Failure to thrive OMIM:251000
Autoimmune Hepatitis
Splenomegaly, Increased total bilirubin ORPHA:2137
Isaacs Syndrome
Weight loss ORPHA:84142
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Cerebral cortical atrophy, Lethargy OMIM:277410
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Schwartz-Jampel Syndrome
Abnormal eyebrow morphology, Long eyelashes in irregular rows, Low anterior hairline, Generalized... ORPHA:800
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Oculopharyngodistal Myopathy
Weight loss, Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia ORPHA:98897
Choreoacanthocytosis
Mental deterioration, Lateral ventricle dilatation, Hair-pulling, Frontal cortical atrophy, Apath... ORPHA:2388
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Depression, Overweight ORPHA:99832
Infantile Liver Failure Syndrome 2
Lethargy OMIM:616483
Niemann-Pick Disease, Type C1
Dementia, Dysphagia, Neurofibrillary tangles, Neuronal loss in central nervous system OMIM:257220
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Trichinellosis
Memory impairment, Confusion, Lethargy, Apathy, Dysphagia ORPHA:863
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia ORPHA:163979
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy ORPHA:156
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Failure to thrive, Cerebellar vermis atrophy, Agenesis of corpus callosum, Hy... OMIM:614866
Isolated Succinate-Coq Reductase Deficiency
Dementia, Weight loss, Motor deterioration, Progressive psychomotor deterioration ORPHA:3208
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration OMIM:620210
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy, Cerebellar atrophy, Cerebral atrophy OMIM:620306
Cockayne Syndrome
Mental deterioration, Dry hair, Cerebellar atrophy, Cerebral atrophy, Fine hair, Cachexia, Cognit... ORPHA:191
Spastic Paraplegia 79B, Autosomal Recessive
Neurodegeneration, Head titubation, Cerebellar atrophy, Cerebral atrophy OMIM:615491
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss, Cognitive impairment, Psychomotor deterioration ORPHA:275761
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Conjugated hyperbilirubinemia, Splenomegaly, Abnormal circulating fatty-acid conc... ORPHA:567983
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration ORPHA:90673
Encephalitis Lethargica
Mental deterioration, Lethargy ORPHA:83600
Late-Onset Isolated Acth Deficiency
Lethargy, Weight loss, Failure to thrive, Anorexia ORPHA:199299
3-Hydroxy-3-Methylglutaric Aciduria
Lethargy, Apathy, Weight loss, Anorexia ORPHA:20
Graves Disease
Polyphagia, Weight loss, Hyperactivity OMIM:275000
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Depression, Cerebellar atrophy, Weight loss, Cognitive impairment, Dementia, Basal ganglia gliosis OMIM:301310
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy, Alopecia, Failure to thrive OMIM:210210
Renal Hypoplasia, Bilateral
Lethargy, Small for gestational age, Failure to thrive ORPHA:97362
Trisomy 18
Cachexia, Cognitive impairment ORPHA:3380
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Overweight, Obesity, Small for gestational age ORPHA:26793
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Thrombocytopenia ORPHA:464321
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Alopecia, Cachexia, Nail dystrophy ORPHA:37042
Acquired Hypertrichosis Lanuginosa
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Hypopigmentation of hair ORPHA:2221
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Xfe Progeroid Syndrome
Cachexia, Failure to thrive OMIM:610965
Pleural Mesothelioma
Weight loss, Dysphagia ORPHA:50251
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy, Small for gestational age, Failure to thrive OMIM:277380
Argininosuccinic Aciduria
Dry hair, Failure to thrive, Trichorrhexis nodosa, Lethargy, Brittle hair OMIM:207900
Senior-Boichis Syndrome
Anemia, Hepatosplenomegaly, Increased total bilirubin ORPHA:84081
Reynolds Syndrome
Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis OMIM:613471
Pineoblastoma
Progressive neurologic deterioration, Lethargy, Memory impairment, Cognitive impairment ORPHA:251909
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy OMIM:201450
Maple Syrup Urine Disease, Type Ia
Lethargy OMIM:248600
Oromandibular Dystonia
Bruxism, Depression, Dysphagia, Weight loss ORPHA:93958
Scrub Typhus
Lethargy ORPHA:83317
Necrotizing Enterocolitis
Lethargy, Small for gestational age ORPHA:391673
Wilson Disease
Depression, Failure to thrive, Increased body weight, Aggressive behavior, Weight loss, Hypersexu... ORPHA:905
Caroli Disease
Leukocytosis, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:53035
Multiple Mitochondrial Dysfunctions Syndrome 7
Impulsivity, Lethargy, Hyperactivity, Agitation OMIM:620423
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy OMIM:201475
Medulloblastoma
Lethargy, Cognitive impairment ORPHA:616
Autoinflammatory Disease, Systemic, With Vasculitis