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Gene: Mrpl3 MGI:2137204

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Gene Summary

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

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 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
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

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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 Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Sleep Wake

Wake state (bmp file)

6 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 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
Failure to thrive OMIM:614582

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Frontotemporal dementia, Astrocytosis, Inappropriate behavior,... OMIM:600795
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... ORPHA:275864
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Sporadic Creutzfeldt-Jakob Disease
Confusion, Cerebral atrophy, Astrocytosis, Dementia, Gliosis, Akinetic mutism, Cognitive impairme... ORPHA:204
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive, Dementia, Cerebral cortical atrophy ORPHA:622
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Restlessness, Neurofibrillary tangles, Frontotemporal dem... ORPHA:100070
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Inherited Creutzfeldt-Jakob Disease
Short attention span, Confusion, Progressive forgetfulness, Depression, Bradykinesia, Astrocytosi... ORPHA:282166
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Immunodeficiency 83, Susceptibility To Viral Infections
Mental deterioration, Lethargy, Gliosis, Confusion OMIM:613002
Alzheimer Disease 9, Susceptibility To
Neurofibrillary tangles, Depression, Disinhibition, Hippocampal atrophy, Senile plaques, Memory i... OMIM:608907
Spinocerebellar Ataxia 48
Cerebellar atrophy, Cachexia, Depression, Dysphagia, Mental deterioration OMIM:618093
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Cerebral atrophy, Lethargy, Failure to thrive, Agenesis of corpus callosum OMIM:274270
Huntington Disease-Like 2
Subcortical dementia, Depression, Bradykinesia, Weight loss, Dementia, Apathy, Inertia, Memory im... OMIM:606438
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Frontotemporal dementia, Repetitive compulsive behavior, Hypersexuality,... OMIM:607485
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Lethargy, Agenesis of corpus callosum OMIM:605899
Pick Disease Of Brain
Diminished motivation, Frontotemporal dementia, Abnormal repetitive mannerisms, Apathy, Gliosis, ... OMIM:172700
Focal Cortical Dysplasia, Type Ii
Cognitive impairment, Astrocytosis OMIM:607341
N-Acetylglutamate Synthase Deficiency
Confusion, Aggressive behavior, Cognitive impairment, Lethargy, Failure to thrive OMIM:237310
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive, Anorexia ORPHA:79283
Huntington Disease-Like 1
Cerebellar atrophy, Restlessness, Depression, Bradykinesia, Weight loss, Dementia, Gliosis, Cogni... ORPHA:157941
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Mental deterioration, Lethargy, Confusion OMIM:617900
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Huntington Disease-Like 2
Caudate atrophy, Weight loss, Dementia, Memory impairment, Cerebral cortical atrophy ORPHA:98934
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Ceroid Lipofuscinosis, Neuronal, 7
Mental deterioration, Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:610951
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Developmental And Epileptic Encephalopathy 40
Lethargy, Small for gestational age, Cerebral cortical atrophy OMIM:617065
Neurodegeneration With Brain Iron Accumulation 6
Depression, Bradykinesia, Neurodegeneration, Compulsive behaviors, Mental deterioration, Motor tics OMIM:615643
Supranuclear Palsy, Progressive, 1
Neurofibrillary tangles, Cerebral atrophy, Astrocytosis, Bradykinesia, Granulovacuolar degenerati... OMIM:601104
Christianson Syndrome
Cerebellar atrophy, Cachexia, Inappropriate laughter, Dysphagia, Neuronal loss in central nervous... ORPHA:85278
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy, Confusion OMIM:606777
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Atrophy/Degeneration involving the caudate nucleus, Dysphagia, Basal ganglia gliosi... ORPHA:225154
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Progressive neurologic deterioration, Weight loss OMIM:612075
Huntington Disease
Bradyphrenia, Caudate atrophy, Oral-pharyngeal dysphagia, Aggressive behavior, Cerebral atrophy, ... ORPHA:399
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Corpus callosum atrophy, Depression, Frontal lobe dementia, Bradykinesia, Gliosis, Dysphagia, Men... OMIM:221820
Dystonia 31
Abnormal posturing, Dysphagia, Depression OMIM:619565
Moynahan Syndrome
Sparse hair, Alopecia, Cachexia ORPHA:2574
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Neurofibrillary tangles, Frontotemporal dementia, Dementia, Memory... OMIM:619132
Huntington Disease
Cerebellar atrophy, Depression, Bradykinesia, Dementia, Gliosis, Neuronal loss in central nervous... OMIM:143100
Central Diabetes Insipidus
Anorexia, Weight loss, Depression, Lethargy, Polydipsia, Failure to thrive ORPHA:178029
Pontocerebellar Hypoplasia, Type 6
Cerebellar atrophy, Cerebral atrophy, Brain atrophy, Atrophy/Degeneration affecting the brainstem... OMIM:611523
Juvenile Huntington Disease
Cerebellar atrophy, Hyperactivity, Weight loss, Bradykinesia, Depression, Dementia, Cerebellar ve... ORPHA:248111
Alexander Disease Type I
Cerebellar atrophy, Failure to thrive, Cachexia, Dysphagia ORPHA:363717
Methylmalonic Acidemia With Homocystinuria
Lethargy, Failure to thrive ORPHA:26
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Depression, Lateral ventricle dilatation, Dementia, Neurodegeneration OMIM:615889
Flynn-Aird Syndrome
Alopecia, Dementia, Cerebral cortical atrophy, Cachexia ORPHA:2047
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Frontotemporal dementia, C... OMIM:105550
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Agitation, Increased body weight, Progressive neurologic deterioration ORPHA:276608
Hereditary Central Diabetes Insipidus
Lethargy, Polydipsia, Weight loss ORPHA:30925
Cyclic Vomiting Syndrome
Lethargy, Attention deficit hyperactivity disorder, Cognitive impairment, Anorexia OMIM:500007
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Cerebral atrophy, Dysphagia, Neurodegeneration, Decreased body weight, Mental... OMIM:617672
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Riboflavin Transporter Deficiency
Cachexia, Cerebral cortical atrophy, Dysphagia, Aggressive behavior ORPHA:97229
Leukoencephalopathy With Vanishing White Matter 1
Memory impairment, Gliosis, Lethargy OMIM:603896
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Brain atrophy, Dysphagia, Lethargy, Failure to thrive OMIM:618226
Early Myoclonic Encephalopathy
Lethargy, Dysphagia ORPHA:1935
Mulibrey Nanism
Cachexia ORPHA:2576
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Confusion, Agitation, Cognitive impairment, Lethargy, Failure to thrive, Abnormal repetitive mann... ORPHA:927
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Crigler-Najjar Syndrome
Memory impairment, Lethargy, Cognitive impairment ORPHA:205
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Aggressive behavior, Cerebral atrophy, Bradykinesia, Dementia, Neurodegenerat... OMIM:300894
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles, Dementia, Senile plaques DECIPHER:48
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy, Confusion ORPHA:71277
Gaba-Transaminase Deficiency
Lethargy, Agenesis of corpus callosum OMIM:613163
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Failure to thrive, Brain atrophy OMIM:618228
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Agenesis of corpus callosum, Small for gestational age OMIM:610498
Gerstmann-Straussler Disease
Cerebellar atrophy, Aggressive behavior, Neurofibrillary tangles, Depression, Bradykinesia, Weigh... OMIM:137440
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Head titubation, Lethargy, Failure to thrive, Agenesis of corpus callosum OMIM:250620
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Spongiform Encephalopathy With Neuropsychiatric Features
Aggressive behavior, Neurofibrillary tangles, Dementia, Gliosis, Memory impairment OMIM:606688
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy, Failure to thrive, Cerebral cortical atrophy, Cerebral atrophy OMIM:236270
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Failure to thrive ORPHA:26792
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Chronic Hiccup
Weight loss, Abnormal eating behavior, Depression ORPHA:396
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Astrocytosis OMIM:611087
Diaminopentanuria
Neurodegeneration OMIM:222350
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Global brain atrophy, Cerebral atrophy, Failure to thrive in infancy, Cachexia OMIM:616801
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy, Failure to thrive, Cerebral cortical atrophy, Confusion OMIM:238970
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy, Agenesis of corpus callosum, Small for gestational age, Cerebral atrophy OMIM:312170
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Cachexia, Head titubation, Cognitive impairment, Dysphagia ORPHA:300605
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Cronkhite-Canada Syndrome
Alopecia, Anorexia, Cachexia, Dystrophic toenail, Patchy alopecia, Dystrophic fingernails, Sparse... ORPHA:2930
Rett Syndrome
Cachexia, Bruxism, Motor deterioration, Cerebral cortical atrophy, Stereotypical hand wringing OMIM:312750
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy, Failure to thrive, Dysphagia OMIM:613561
Severe Canavan Disease
Lethargy, Oral-pharyngeal dysphagia ORPHA:314911
Classic Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Weight loss, Attention deficit hyperactivity disorder, Cognitive impairment, Abnormal ... ORPHA:216866
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Diminished motivation, Aggressive behavior, Dysphagia, Depression, Bradykines... OMIM:615157
Susac Syndrome
Lethargy, Apathy, Confusion, Cognitive impairment ORPHA:838
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy, Progressive neurologic deterioration, Dysphagia OMIM:233910
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Brain atrophy OMIM:618225
Mohr-Tranebjaerg Syndrome
Mental deterioration, Abnormal posturing, Dysphagia OMIM:304700
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Gliosis, Brain atrophy, Lethargy, Basal ganglia gliosis, Ne... OMIM:604377
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy OMIM:618224
Early-Onset Autosomal Dominant Alzheimer Disease
Confusion, Neurofibrillary tangles, Dementia, Agitation, Semantic dementia, Disinhibition, Memory... ORPHA:1020
Mantle Cell Lymphoma
Anorexia, Weight loss ORPHA:52416
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Mcdonough Syndrome
Synophrys, Cachexia ORPHA:2471
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Mitochondrial Neurogastrointestinal Encephalomyopathy
Weight loss, Dementia, Cachexia, Dysphagia ORPHA:298
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Alzheimer Disease 4
Neurofibrillary tangles, Cerebral amyloid angiopathy, Dementia, Cognitive impairment, Senile plaq... OMIM:606889
Pulmonary Blastoma
Weight loss ORPHA:64741
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Progressive neurologic d... OMIM:214150
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Cachexia, Thin eyebrow ORPHA:3242
Perry Syndrome
Weight loss, Dementia, Apathy, Depression ORPHA:178509
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Short attention span, Hyperactivity, Impulsivity, Neurofibrillary tangles, Ce... OMIM:610217
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Large for gestational age, Agitation, Lethargy, Polyphagia ORPHA:324575
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Abnormal posturing, Failure to thrive, Cerebral atrophy OMIM:614857
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebellar atrophy, Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Lethargy, Fai... OMIM:615838
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Glutaric Acidemia Type 3
Lethargy, Failure to thrive, Impulsivity ORPHA:35706
Hereditary Late-Onset Parkinson Disease
Impulsivity, Depression, Bradykinesia, Weight loss, Dementia, Apathy, Gliosis, Agitation, Dysphag... ORPHA:411602
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Failure to thrive ORPHA:28
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Agitation, Polyphagia, Large for gestational age ORPHA:276556
Citrullinemia Type Ii
Restlessness, Hyperactivity, Decreased body mass index, Confusion, Aggressive behavior, Abnormal ... ORPHA:247585
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Synophrys, Long eyelashes, Failure to thrive in infancy OMIM:619064
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Progressive Supranuclear Palsy
Impulsivity, Depression, Bradykinesia, Dementia, Gliosis, Cognitive impairment, Dysphagia, Memory... ORPHA:683
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Agitation, Polyphagia, Large for gestational age ORPHA:276575
Idiopathic Achalasia
Weight loss, Dysphagia ORPHA:930
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Agitation, Polyphagia, Large for gestational age ORPHA:276580
Classic Galactosemia
Mental deterioration, Lethargy, Attention deficit hyperactivity disorder, Depression ORPHA:79239
Hypercalcemia, Infantile, 1
Lethargy, Failure to thrive, Weight loss OMIM:143880
Holocarboxylase Synthetase Deficiency
Lethargy, Alopecia, Anorexia, Weight loss ORPHA:79242
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Cachexia ORPHA:42
Central Neurocytoma
Lethargy, Abnormal lateral ventricle morphology, Depression ORPHA:73256
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Mental deterioration, Cerebellar atrophy, Neurodegeneration, Atrophy/Degeneration affecting the b... OMIM:612319
Perry Syndrome
Frontotemporal dementia, Depression, Bradykinesia, Weight loss, Inappropriate behavior, Apathy, D... OMIM:168605
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Infantile Krabbe Disease
Psychomotor deterioration, Diffuse cerebral atrophy, Cachexia, Progressive neurologic deteriorati... ORPHA:206436
Idiopathic Intracranial Hypertension
Lethargy, Obesity, Depression ORPHA:238624
Neurodegeneration With Brain Iron Accumulation 3
Subcortical dementia, Bradykinesia, Dementia, Disinhibition, Neurodegeneration, Dysphagia OMIM:606159
Alzheimer Disease 3
Neurofibrillary tangles, Dementia, Dysphagia, Memory impairment, Cerebral cortical atrophy OMIM:607822
Krabbe Disease
Failure to thrive, Motor deterioration, Neurodegeneration, Diffuse cerebral atrophy OMIM:245200
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Cerebral atrophy, Inappropriate behavior, Neurodegeneration, Cogn... ORPHA:309246
Tetrasomy 12P
Sparse hair, Cachexia, Sparse eyebrow ORPHA:884
Tuberculosis
Weight loss ORPHA:3389
Carnitine Deficiency, Systemic Primary
Lethargy, Failure to thrive, Confusion OMIM:212140
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Cerebral cortical neurodegeneration, Cerebral atrophy, Astrocytosis, Dementia... OMIM:203700
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Dysphagia, Astrocytosis, Pontocerebellar atrophy, Cognitive impairment, Decreased body weight ORPHA:258
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Lethargy, Failure to thrive, Anorexia ORPHA:79312
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Abnormal hair morphology, Cachexia, Weight loss ORPHA:1979
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Anorexia OMIM:619386
Insulinoma
Lethargy, Transient global amnesia, Polyphagia, Increased body weight ORPHA:97279
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Cachexia OMIM:618186
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy OMIM:246900
Supranuclear Palsy, Progressive, 2
Neurofibrillary tangles, Granulovacuolar degeneration, Bradykinesia, Apathy, Gliosis, Dysphagia, ... OMIM:609454
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Generalized hirsutism, Cachexia ORPHA:1933
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cerebral cortical atrophy, Cachexia ORPHA:702
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Self-injurious behavior, Cachexia ORPHA:371364
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Atrophy of the spinal cord, Brain atrophy, Cognitive impairment, Mental deterioration, Lethargy, ... ORPHA:395
Developmental And Epileptic Encephalopathy 41
Lethargy, Cerebral atrophy OMIM:617105
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Progressive neurologic deterioration, Large for gestational age, Increased body weight, Agitation... ORPHA:263455
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Cachexia, Fine hair, Sparse or absent eyelashes, Sparse hair, Failure to th... ORPHA:217346
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Anorexia ORPHA:49827
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Truncal titubation, Lethargy, Confusion, Dysphagia OMIM:607483
Dihydropyrimidinase Deficiency
Lethargy OMIM:222748
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
X-Linked Creatine Transporter Deficiency
Hyperactivity, Self-mutilation, Cachexia ORPHA:52503
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Failure to thrive, Anorexia OMIM:611590
Laryngeal Neuroendocrine Tumor
Weight loss, Anorexia, Oral-pharyngeal dysphagia ORPHA:100083
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Aggressive behavior, Cerebral atrophy, Neurodegeneration, Gliosis, Lethargy OMIM:618321
Riboflavin Deficiency
Lethargy OMIM:615026
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia ORPHA:93941
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Abnormal hair pattern, Aggressive behavior, Cachexia, Synophrys, Obesity ORPHA:85293
Aredyld Syndrome
Cachexia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1133
Adrenoleukodystrophy
Alopecia, Dementia, Neurodegeneration, Attention deficit hyperactivity disorder, Mental deteriora... OMIM:300100
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Pyruvate Dehydrogenase E3 Deficiency
Lethargy, Failure to thrive ORPHA:2394
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Alopecia, Nail dystrophy, Anorexia OMIM:175500
Propionic Acidemia
Lethargy, Failure to thrive, Cerebral atrophy OMIM:606054
Sporadic Infantile Bilateral Striatal Necrosis
Short attention span, Titubation, Bradykinesia, Dysphagia, Abnormal posturing ORPHA:225147
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Lethargy, Cerebral cortical atrophy ORPHA:254913
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Cerebral atrophy, Gliosis, Neurodegeneration, Neuronal loss in central nervou... OMIM:256600
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Abnormal posturing, Dysphagia, Depression OMIM:128100
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Impulsivity, Increased body weight, Abdominal obesity, Compulsive behav... ORPHA:398069
Hjv Or Hamp-Related Hemochromatosis
Lethargy ORPHA:79230
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration ORPHA:438134
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Methylcobalamin Deficiency Type Cble
Lethargy, Failure to thrive, Brain atrophy ORPHA:2169
Citrullinemia Type I
Lethargy, Failure to thrive ORPHA:247525
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy, Depression, Agitation, Neurodegeneration ORPHA:803
Whipple Disease
Cachexia, Polydipsia, Anorexia, Depression ORPHA:3452
Cockayne Syndrome Type 3
Dry hair, Progressive neurologic deterioration, Astrocytosis, Premature graying of hair, Cognitiv... ORPHA:90324
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Impulsivity, Depression, Dementia, Ne... OMIM:614298
Alzheimer Disease 2
Neurofibrillary tangles, Dementia OMIM:104310
Ogden Syndrome
Lethargy, Cerebral atrophy, Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:276432
Alzheimer Disease, Familial, 1
Neurofibrillary tangles, Dementia OMIM:104300
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy OMIM:618120
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Confusion, Dementia, Cerebral cortical atrophy, Lethargy, Failure to thrive, Delirium OMIM:277400
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Fatal Familial Insomnia
Weight loss, Dementia, Neuronal loss in central nervous system, Dysphagia OMIM:600072
Primary Myelofibrosis
Cachexia, Anorexia ORPHA:824
Staphylococcal Necrotizing Pneumonia
Lethargy, Addictive alcohol use, Confusion ORPHA:36238
Kufor-Rakeb Syndrome
Short attention span, Confusion, Bradykinesia, Dementia, Apathy, Dysphagia, Mental deterioration,... ORPHA:306674
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Failure to thrive ORPHA:2089
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Parkinson Disease 23, Autosomal Recessive Early-Onset
Mental deterioration, Dementia, Cerebral cortical atrophy, Neurofibrillary tangles OMIM:616840
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles, Senile plaques OMIM:605055
Nijmegen Breakage Syndrome
Abnormal hair quantity, Glioma, Cachexia, Abnormal hair morphology, Low anterior hairline, Attent... ORPHA:647
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Weight loss, Dementia, Dysphagia, Slender build OMIM:603041
Seckel Syndrome
Sparse scalp hair, Cachexia, Cognitive impairment ORPHA:808
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Lethargy ORPHA:289916
Gm2-Gangliosidosis, Ab Variant
Neurodegeneration, Dementia, Apathy, Cerebral atrophy OMIM:272750
Hsd10 Disease, Infantile Type
Restlessness, Diffuse cerebral atrophy, Cerebral atrophy, Frontotemporal cerebral atrophy, Neurod... ORPHA:391428
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy, Failure to thrive OMIM:237300
Wolman Disease
Cachexia ORPHA:75233
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Obesity, Abdominal obesity, Abnormal temper tantrums, Skin-picking, Let... ORPHA:398079
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:86893
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Adult-Onset Dystonia-Parkinsonism
Neurofibrillary tangles, Frontotemporal dementia, Depression, Bradykinesia, Frontotemporal cerebr... ORPHA:199351
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Gliosis, Neurodegeneration, Neuronal loss in central nervous system, Agenesis... OMIM:616239
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Bipolar affective disorder, Depression, Bradykinesia, Cognitive impairment, D... ORPHA:254892
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Confusion, Cognitive impairment, Lethargy, Failure to thrive, Cerebral cortical atrophy ORPHA:415
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Dysphagia ORPHA:2198
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Erythrokeratodermia Variabilis
Abnormal hair morphology, Alopecia, Generalized hirsutism, Weight loss ORPHA:317
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Atrophy of the spinal cord, Cerebral atrophy, Dementia, Mental deterioration, Memory impairment, ... ORPHA:79282
Isovaleric Acidemia
Lethargy OMIM:243500
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Phonic tics, Depression, Bradykinesia, Dementia, Neurodegeneration, Dysphagia, Men... OMIM:234200
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Pyruvate Dehydrogenase Deficiency
Lethargy ORPHA:765
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Lethargy, Failure to thrive, Confusion ORPHA:71212
Combined Oxidative Phosphorylation Deficiency 11
Lethargy, Cerebral cortical atrophy OMIM:614922
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy OMIM:614299
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy ORPHA:27
Multiple Mitochondrial Dysfunctions Syndrome 1
Lethargy, Failure to thrive OMIM:605711
Biotinidase Deficiency
Lethargy, Alopecia, Diffuse cerebellar atrophy, Diffuse cerebral atrophy OMIM:253260
Typhoid
Lethargy ORPHA:99745
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Long eyelashes, Inappropriate laughter, Cognitive impairment, Neurodegeneration, Mental deteriora... OMIM:618476
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Failure to thrive OMIM:210200
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy, Failure to thrive OMIM:251000
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Failure to thrive, Attention deficit hyperactivity disorder, Depression ORPHA:90674
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Cerebral Visual Impairment
Central nervous system degeneration, Short attention span, Neurodegeneration, Attention deficit h... ORPHA:447788
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Confusion, Cachexia ORPHA:220295
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy, Failure to thrive, Small for gestational age OMIM:609015
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Bradykinesia, Astrocytosis ORPHA:309854
Symptomatic Form Of Hfe-Related Hemochromatosis
Lethargy, Apathy, Weight loss ORPHA:465508
Congenital Disorder Of Glycosylation, Type Ig
Lethargy, Failure to thrive, Small for gestational age OMIM:607143
Meningococcal Meningitis
Lethargy, Anorexia ORPHA:33475
Evans Syndrome
Lethargy ORPHA:1959
Pseudo-Torch Syndrome 2
Lethargy, Lateral ventricle dilatation OMIM:617397
Schwartz-Jampel Syndrome
Abnormal eyebrow morphology, Decreased body weight, Cachexia, Low anterior hairline, Attention de... ORPHA:800
Isaacs Syndrome
Weight loss ORPHA:84142
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Failure to thrive, Alopecia of scalp OMIM:201100
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy, Head titubation OMIM:615491
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy OMIM:618232
Oculopharyngodistal Myopathy
Impaired oropharyngeal swallow response, Weight loss, Oral-pharyngeal dysphagia ORPHA:98897
Trichinellosis
Confusion, Apathy, Dysphagia, Memory impairment, Lethargy ORPHA:863
Niemann-Pick Disease, Type C1
Neurofibrillary tangles, Dementia, Neuronal loss in central nervous system, Dysphagia OMIM:257220
Infantile Liver Failure Syndrome 2
Lethargy OMIM:616483
Allergic Bronchopulmonary Aspergillosis
Cerebral cortical atrophy, Weight loss ORPHA:1164
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy ORPHA:156
Familial Thyroid Dyshormonogenesis
Lethargy ORPHA:95716
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy, Cerebral cortical atrophy OMIM:277410
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Small for gestational age, Colpocephaly, Hypoplastic nipples, Lethargy, Failu... OMIM:614866
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebellar atrophy, Lethargy, Cerebral atrophy OMIM:620306
Isolated Succinate-Coq Reductase Deficiency
Weight loss, Motor deterioration, Progressive psychomotor deterioration, Dementia ORPHA:3208
Choreoacanthocytosis
Caudate atrophy, Compulsive behaviors, Self-mutilation of tongue and lips due to involuntary move... ORPHA:2388
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration OMIM:620210
Graves Disease, Susceptibility To, 1
Hyperactivity, Polyphagia, Weight loss OMIM:275000
Lysosomal Acid Lipase Deficiency
Psychomotor deterioration, Cachexia, Weight loss, Cognitive impairment, Failure to thrive ORPHA:275761
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy, Alopecia, Failure to thrive OMIM:210210
Encephalitis Lethargica
Mental deterioration, Lethargy ORPHA:83600
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Cockayne Syndrome
Cerebellar atrophy, Dry hair, Cachexia, Cerebral atrophy, Fine hair, Gliosis, Cognitive impairmen... ORPHA:191
3-Hydroxy-3-Methylglutaric Aciduria
Lethargy, Apathy, Anorexia, Weight loss ORPHA:20
Trisomy 18
Cachexia, Cognitive impairment ORPHA:3380
Carnitine Palmitoyltransferase I Deficiency
Lethargy OMIM:255120
Late-Onset Isolated Acth Deficiency
Lethargy, Failure to thrive, Anorexia, Weight loss ORPHA:199299
Renal Hypoplasia, Bilateral
Lethargy, Failure to thrive, Small for gestational age ORPHA:97362
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Lethargy, Small for gestational age, Obesity ORPHA:26793
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Lethargy, Depression ORPHA:99832
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism ORPHA:2221
Argininosuccinic Aciduria
Dry hair, Brittle hair, Lethargy, Failure to thrive, Trichorrhexis nodosa OMIM:207900
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy, Failure to thrive, Small for gestational age OMIM:277380
Necrotizing Enterocolitis
Lethargy, Small for gestational age ORPHA:391673
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Failure to thrive in infancy, Nail dystrophy, Cachexia ORPHA:37042
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy OMIM:201450
Xfe Progeroid Syndrome
Failure to thrive, Cachexia OMIM:610965
Maple Syrup Urine Disease
Lethargy OMIM:248600
Pleural Mesothelioma
Weight loss, Dysphagia ORPHA:50251
Pineoblastoma
Cognitive impairment, Memory impairment, Lethargy, Progressive neurologic deterioration ORPHA:251909
Oromandibular Dystonia
Weight loss, Bruxism, Dysphagia, Depression ORPHA:93958
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Wilson Disease
Aggressive behavior, Hypersexuality, Increased body weight, Depression, Weight loss, Failure to t... ORPHA:905
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy OMIM:201475
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy, Agenesis of corpus callosum OMIM:608836
Scrub Typhus
Lethargy ORPHA:83317
Dengue Fever
Lethargy ORPHA:99828
Methylmalonic Aciduria, Cblb Type
Lethargy, Failure to thrive OMIM:251110
Medulloblastoma
Lethargy, Cognitive impairment ORPHA:616
Parkinson Disease 4, Autosomal Dominant
Dementia, Weight loss OMIM:605543
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Failure to thrive in infancy ORPHA:746
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Holocarboxylase Synthetase Deficiency
Lethargy, Alopecia OMIM:253270
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy, Failure to thrive ORPHA:79284
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Tongue thrusting OMIM:608643
Transcobalamin Ii Deficiency
Lethargy, Failure to thrive OMIM:275350
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Failure to thrive OMIM:201470
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Lethargy, Confusion, Restlessness ORPHA:68
Pyruvate Dehydrogenase E2 Deficiency
Dementia, Neurodegeneration ORPHA:79244
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy OMIM:212138
Lynch Syndrome
Glioblastoma multiforme, Weight loss, Depression, Attention deficit hyperactivity disorder, Memor... ORPHA:144
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Neurodegeneration, Cognitive impairment OMIM:146500
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Familial Hypoaldosteronism
Lethargy, Failure to thrive ORPHA:427
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Anorexia ORPHA:1969
Semilobar Holoprosencephaly
Depression, Apathy, Attention deficit hyperactivity disorder, Dysphagia, Lethargy, Failure to thr... ORPHA:220386
Alobar Holoprosencephaly
Depression, Apathy, Attention deficit hyperactivity disorder, Dysphagia, Lethargy, Failure to thr... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Depression, Apathy, Attention deficit hyperactivity disorder, Dysphagia, Lethargy, Failure to thr... ORPHA:93926
Lobar Holoprosencephaly
Depression, Apathy, Attention deficit hyperactivity disorder, Dysphagia, Lethargy, Failure to thr... ORPHA:93924
Methylmalonic Aciduria, Cbla Type
Lethargy, Failure to thrive OMIM:251100
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Synophrys, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior, Hype... OMIM:619475
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles, Dementia, Cerebral amyloid angiopathy OMIM:117300
Ebola Hemorrhagic Fever
Lethargy, Dysphagia ORPHA:319218
Familial Colorectal Cancer Type X
Glioblastoma multiforme, Weight loss, Depression, Attention deficit hyperactivity disorder, Memor... ORPHA:440437
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Fructose-1,6-Bisphosphatase Deficiency
Lethargy OMIM:229700
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brain atrophy ORPHA:478029
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Lethargy, Failure to thrive OMIM:620233
Marfan Syndrome
Cachexia, Slender build, Attention deficit hyperactivity disorder ORPHA:558
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Depression, Weight loss, Diminished ability to concentrate, Dementia, Atrophy/Degeneration involv... OMIM:607459
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Citrullinemia, Classic
Lethargy, Failure to thrive OMIM:215700
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy ORPHA:159
Vici Syndrome
Hypopigmentation of hair, Albinism, Dysphagia, Abnormal posturing, Failure to thrive, Agenesis of... OMIM:242840
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Gm1 Gangliosidosis
Weight loss, Cognitive impairment, Dysphagia, Oral aversion, Failure to thrive, Generalized hirsu... ORPHA:354
Follicular Lymphoma
Weight loss ORPHA:545
Immunodeficiency 27A
Anorexia, Weight loss OMIM:209950
Pearson Marrow-Pancreas Syndrome
Lethargy, Failure to thrive, Small for gestational age, Anorexia OMIM:557000
Isolated Complex I Deficiency
Lethargy, Failure to thrive ORPHA:2609
Microsporidiosis
Cachexia, Anorexia, Weight loss ORPHA:2552
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Alopecia, Anorexia, Weight loss, Failure to thrive, Cerebral cortica... ORPHA:37
Multiple Endocrine Neoplasia Type 1
Short attention span, Confusion, Anorexia, Ependymoma, Depression, Weight loss, Lethargy ORPHA:652
Norrie Disease
Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, Failure to thrive, A... ORPHA:649
Classic Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:391
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Lethargy, Failure to thrive OMIM:252010
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Lethargy, Failure to thrive OMIM:311250
Takayasu Arteritis
Anorexia, Weight loss ORPHA:3287
Niemann-Pick Disease, Type C2
Neurofibrillary tangles, Dementia, Abnormal repetitive mannerisms, Dysphagia OMIM:607625
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Weight loss ORPHA:65682
Mast Cell Sarcoma
Weight loss ORPHA:66661
Cirrhosis, Familial
Lethargy OMIM:215600
Biotinidase Deficiency
Lethargy, Alopecia ORPHA:79241
Complete Atrioventricular Septal Defect
Lethargy, Failure to thrive ORPHA:1329
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Pfapa Syndrome
Weight loss ORPHA:42642
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Genetic Transient Congenital Hypothyroidism
Lethargy ORPHA:226316
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Histiocytoid Cardiomyopathy
Lethargy, Failure to thrive, Agenesis of corpus callosum ORPHA:137675
Leishmaniasis
Anorexia, Weight loss ORPHA:507
Hurler Syndrome
Neurodegeneration, Hirsutism, Progressive neurologic deterioration OMIM:607014
Focal Myositis
Weight loss ORPHA:48918
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Neurodegeneration, Dysphagia OMIM:615919
Lysinuric Protein Intolerance
Lethargy, Failure to thrive, Oral aversion, Cognitive impairment ORPHA:470
X-Linked Agammaglobulinemia
Alopecia, Failure to thrive, Weight loss ORPHA:47
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Cholera
Lethargy ORPHA:173
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy OMIM:615751
Camurati-Engelmann Disease
Cachexia, Slender build, Anorexia ORPHA:1328
Beta-Ketothiolase Deficiency
Anorexia, Weight loss, Agitation, Apathy, Oral aversion ORPHA:134
Rhabdoid Tumor
Weight loss ORPHA:69077
Juvenile Polyposis Of Infancy
Cachexia ORPHA:79076
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy ORPHA:90673
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Lethargy, Failure to thrive OMIM:617156
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Hydranencephaly
Lethargy, Cerebral cortical atrophy ORPHA:2177
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hyperactivity, Agitation, Weight loss ORPHA:424
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology ORPHA:330015
Aicardi-Goutieres Syndrome 9
Cerebral atrophy, Weight loss, Lateral ventricle dilatation, Failure to thrive, Self-mutilation OMIM:619487
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Abnormal temper tantrums ORPHA:2072
8P23.1 Microdeletion Syndrome
Obesity, Attention deficit hyperactivity disorder, Weight loss ORPHA:251071
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Neurodegeneration, Cerebral atrophy, Oral-pharyngeal dysphagia OMIM:616878
Anaplastic Thyroid Carcinoma
Weight loss, Dysphagia ORPHA:142
Glossopharyngeal Neuralgia
Weight loss, Oral-pharyngeal dysphagia, Depression ORPHA:221098
Cryptogenic Organizing Pneumonia
Anorexia, Weight loss ORPHA:1302
Mucopolysaccharidosis, Type Ii
Neurodegeneration, Hypertrichosis OMIM:309900
Posterior Urethral Valve
Lethargy ORPHA:93110
Mucopolysaccharidosis, Type Vii
Neurodegeneration, Coarse hair, Thick eyebrow, Hirsutism OMIM:253220
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Lethargy, Agenesis of corpus callosum ORPHA:226307
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Giant Cell Arteritis
Alopecia, Weight loss, Anorexia, Depression ORPHA:397
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Secondary Short Bowel Syndrome
Failure to thrive, Polyphagia, Weight loss ORPHA:95427
Glycerol Kinase Deficiency
Lethargy, Small for gestational age OMIM:307030
Marburg Hemorrhagic Fever
Lethargy, Confusion, Anorexia, Aggressive behavior ORPHA:99826
Celiac Disease, Susceptibility To, 1
Weight loss, Alopecia, Failure to thrive, Depression OMIM:212750
Thymic Carcinoma
Weight loss ORPHA:99868
Exercise-Induced Malignant Hyperthermia
Lethargy, Confusion, Delirium ORPHA:466650
Osteosarcoma
Weight loss ORPHA:668
Hereditary Fructose Intolerance
Lethargy ORPHA:469
Eosinophilic Granulomatosis With Polyangiitis
Central nervous system degeneration, Weight loss, Dysphagia ORPHA:183
Kaposi Sarcoma
Weight loss ORPHA:33276