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Gene: L2hgdh MGI:2384968

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Gene Summary

Name:
L-2-hydroxyglutarate dehydrogenase
Synonyms:
N/A

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
abnormal eye morphology L2hgdhem1(IMPC)Tcp HOM Early adult 0.00
male infertility L2hgdhem1(IMPC)Tcp HOM Early adult 0.00
decreased exploration in new environment L2hgdhem1(IMPC)Tcp HOM Early adult 1.35×10-06

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.

Histopathology

Images

30 Images

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Eye Morphology

Images Ophthalmoscopy

98 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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Eye Morphology

Images Slit Lamp

34 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Human diseases caused by L2hgdh 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 L2hgdh by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
L-2-Hydroxyglutaric Aciduria
Gliosis, Seizure, Ataxia OMIM:236792
L-2-Hydroxyglutaric Aciduria
Seizure ORPHA:79314

The table below shows human diseases predicted to be associated to L2hgdh by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Progressive Multifocal Leukoencephalopathy
Mental deterioration, Seizure, Abnormal astrocyte morphology, Gait ataxia, Dysmetria, Cognitive i... ORPHA:217260
Pelizaeus-Merzbacher Disease
Mental deterioration, Broad-based gait, Seizure, Inability to walk, Reduction of oligodendroglia,... OMIM:312080
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Fatigue, Seizure, Anorexia ORPHA:79283
Developmental And Epileptic Encephalopathy 43
Ataxia, Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hyperactiv... OMIM:617113
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Frontotemporal dementia, Gliosis, Motor stereo... OMIM:172700
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Hyperprolinemia Type 2
Exercise intolerance, Prolinuria, Hydroxyprolinuria, Seizure, Febrile seizure (within the age ran... ORPHA:79101
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence, Memory impairment, Inappropriate behavior, Seizure, Frontal lobe dementia, ... OMIM:221770
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Macrophagic Myofasciitis
Arthralgia, Myalgia, Fatigue ORPHA:592
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Fatigue, Gait disturbance, Myoclonus, Cognitive impairment ORPHA:314632
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Mental deterioration, Gliosis, Seizure OMIM:613002
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Mental deterioration, Shuffling gait, Memory impairment, Seizure, Frontal lobe dementia, Gait dis... OMIM:221820
Mantle Cell Lymphoma
Fatigue, Anorexia ORPHA:52416
Huntington Disease
Dementia, Gait ataxia, Gliosis, Seizure OMIM:143100
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Attention deficit hyperac... OMIM:301008
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spinocerebellar Ataxia 17
Urinary incontinence, Broad-based gait, Seizure, Confusion, Frontal lobe dementia, Limb ataxia, M... OMIM:607136
Epiphyseal Dysplasia, Multiple, 2
Broad-based gait, Fatigue, Knee pain, Foot pain, Waddling gait OMIM:600204
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Frontotemporal dementia, Gliosis, Athetosis, Dysphagia OMIM:300857
Mal De Débarquement
Confusion, Unsteady gait, Gait imbalance, Fatigue ORPHA:210272
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Pontiac Fever
Myalgia, Fatigue ORPHA:99748
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Fatigue, Seizure ORPHA:26
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Mental deterioration, Exercise intolerance, Febrile seizure (within the age range of 3 months to ... ORPHA:1349
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Genetic Hyperferritinemia Without Iron Overload
Arthralgia, Fatigue ORPHA:254704
Cholangiocarcinoma
Abdominal pain, Fatigue, Anorexia ORPHA:70567
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Spinocerebellar Ataxia, Autosomal Recessive 27
Mental deterioration, Gait imbalance, Gait ataxia, Aggressive behavior, Spastic ataxia, Gait dist... OMIM:618369
Hepatitis Delta
Confusion, Malaise, Fatigue, Anorexia, Abdominal pain ORPHA:402823
Mitochondrial Myopathy With Lactic Acidosis
Tip-toe gait, Seizure, Dysmetria, Fatigue, Focal impaired awareness seizure OMIM:251950
Glioblastoma
Glioblastoma multiforme, Memory impairment, Fatigue, Seizure ORPHA:360
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Progressive neurologic deterioration, Fatigue, Agitation, Seizure ORPHA:276608
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Seizure, Attention deficit hyperactivity disorder, Gait disturbance, Fatigue, Impulsivity ORPHA:589905
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Fatigue, Falls OMIM:616326
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spinocerebellar Ataxia, Autosomal Recessive 13
Seizure, Inability to walk, Gait ataxia, Dysmetria, Fatigue, Ataxia, Dysdiadochokinesis OMIM:614831
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Focal autonomic seizure, Myoclonic seizure, Focal impaired awareness s... ORPHA:363558
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Sporadic Creutzfeldt-Jakob Disease
Memory impairment, Confusion, Astrocytosis, Myoclonus, Cognitive impairment, Gliosis, Ataxia, Dem... ORPHA:204
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Alexander Disease
Seizure, Dysmetria, Fatigue, Ataxia, Palatal tremor OMIM:203450
Undifferentiated Pleomorphic Sarcoma
Fatigue, Anorexia ORPHA:2023
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Tremor, Hereditary Essential, 2
Fatigue OMIM:602134
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Dementia, Myoclonus, Gliosis, Seizure OMIM:604218
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Seizure, Confusion, Fatigue, Cognitive impairment, Ataxia, Delirium, Motor stereotypy, Agitation ORPHA:927
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Mucolipidosis Type Iii
Fatigue, Cognitive impairment ORPHA:577
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Congenital Glucokinase-Related Hyperinsulinism
Fatigue, Seizure ORPHA:79299
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Fatigue OMIM:619477
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Exercise intolerance, Generalized-onset seizure, Difficulty walking, Myalgia, Motor deterioration... ORPHA:254875
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Babesiosis
Confusion, Myalgia, Arthralgia, Fatigue, Anorexia ORPHA:108
Hyperinsulinism Due To Insr Deficiency
Fatigue, Seizure ORPHA:263458
Leukoencephalopathy With Vanishing White Matter 1
Memory impairment, Seizure, Gait disturbance, Gliosis, Unsteady gait OMIM:603896
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Nipah Virus Disease
Seizure, Myalgia, Myoclonus, Fatigue, Anorexia ORPHA:99825
Hemimegalencephaly
Seizure, Epileptic spasm, Myoclonus, Gliosis, Focal tonic seizure, Atonic seizure, Focal motor se... ORPHA:99802
Spongiform Encephalopathy With Neuropsychiatric Features
Dementia, Aggressive behavior, Memory impairment, Gliosis OMIM:606688
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Exercise intolerance, Seizure, Myalgia, Gait disturbance, Fatigue, Dementia, Dysphagia OMIM:609286
Hypotonia-Cystinuria Syndrome
Polyphagia, Cystinuria, Fatigue ORPHA:163690
Adiposis Dolorosa
Chronic pain, Arthralgia, Fatigue OMIM:103200
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Kufor-Rakeb Syndrome
Seizure, Akinesia, Myoclonus, Aggressive behavior, Gait disturbance, Fatigue, Ataxia, Dementia, D... OMIM:606693
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Memory impairment, Disinhibition, Polyphagia, Repetitive compulsive behavior, Frontotemporal deme... OMIM:607485
Spontaneous Periodic Hypothermia
Gait disturbance, Fatigue, Seizure, Ataxia ORPHA:29822
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Seizure, Inability to walk, Akinesia, Myoclonus, Ga... ORPHA:391411
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Clonic seizure, Chronic fati... OMIM:610539
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Frontotemporal dementia, G... OMIM:105550
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Disinhibition, Abnormal lower motor neuron morphology, Fr... ORPHA:275872
Hypothyroidism, Congenital, Nongoitrous, 7
Fatigue OMIM:618573
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Gait disturbance, Fatigue, Cognitive impairment, Ataxia, Dysdiadochokinesis ORPHA:352649
Autosomal Dominant Optic Atrophy, Classic Form
Seizure, Myalgia, Gait disturbance, Fatigue, Cognitive impairment, Ataxia, Dementia, Dysphagia ORPHA:98673
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Laryngeal Neuroendocrine Tumor
Chronic fatigue, Oral-pharyngeal dysphagia, Anorexia ORPHA:100083
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Loss of ambulation, Fatigue OMIM:253601
Pontocerebellar Hypoplasia, Type 4
Gliosis, Myoclonus, Dysphagia, Seizure OMIM:225753
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Fatigue, Dysdiadochokinesis, Ataxia OMIM:618049
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Fatigue, Anorexia ORPHA:86893
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Autosomal Dominant Spastic Paraplegia Type 37
Difficulty walking, Spastic gait, Fatigue ORPHA:171612
Huntington Disease-Like 1
Memory impairment, Seizure, Gait ataxia, Dysmetria, Gait disturbance, Cognitive impairment, Glios... ORPHA:157941
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Attention deficit hyperactivity disorder, Fatigue OMIM:274300
Sengers Syndrome
Mental deterioration, Exercise intolerance, Fatigue, Sudden cardiac death OMIM:212350
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Combined Oxidative Phosphorylation Deficiency 28
Abdominal pain, Fatigue OMIM:616794
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Gait ataxia, Dysmetria, Gliosis, Ataxia, Unsteady gait OMIM:213200
Becker Muscular Dystrophy
Exercise intolerance, Falls, Tip-toe gait, Difficulty walking, Myalgia, Fatigue ORPHA:98895
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Pain, Frontotemporal dementia, Motor neuron atrophy, Cognitive imp... ORPHA:803
Acquired Methemoglobinemia
Confusion, Abdominal pain, Fatigue, Seizure ORPHA:464453
Familial Cold Urticaria
Polydipsia, Myalgia, Arthralgia, Fatigue, Abdominal pain ORPHA:47045
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Loss of ambulation, Shuffling gait, Fatigue, Waddling gait ORPHA:209335
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Parkinson Disease 1, Autosomal Dominant
Mental deterioration, Shuffling gait, Myoclonus, Loss of ambulation, Gait disturbance, Gliosis, D... OMIM:168601
Familial Atrial Fibrillation
Chest pain, Exercise intolerance, Fatigue ORPHA:334
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:617061
Herpes Simplex Virus Encephalitis
Focal impaired awareness seizure, Seizure, Addictive alcohol use, Fatigue, Focal aware seizure, C... ORPHA:1930
Insulinoma
Transient global amnesia, Polyphagia, Fatigue, Seizure ORPHA:97279
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Cognitive impairment, Male infertility ORPHA:276183
Takayasu Arteritis
Seizure, Chest pain, Myalgia, Gangrene, Arthralgia, Fatigue, Anorexia ORPHA:3287
Inhalational Anthrax
Confusion, Fatigue, Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastr... ORPHA:247257
Progressive Supranuclear Palsy
Memory impairment, Falls, Cognitive impairment, Gliosis, Dementia, Unsteady gait, Dysphagia, Impu... ORPHA:683
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Pseudobulbar paralysis, Gliosis, Ataxia, Progressive neurologic deterioration, Bowel incontinence OMIM:169500
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Classic Hodgkin Lymphoma
Anorexia, Chest pain, Fatigue, Ataxia, Bone pain ORPHA:391
Parkinson Disease 20, Early-Onset
Mental deterioration, Shuffling gait, Short stepped shuffling gait, Gait disturbance, Fatigue, Dy... OMIM:615530
Familial Colorectal Cancer Type X
Memory impairment, Seizure, Attention deficit hyperactivity disorder, Gait disturbance, Abdominal... ORPHA:440437
Postpoliomyelitis Syndrome
Myalgia, Pain, Arthralgia, Fatigue, Dysphagia ORPHA:2942
Adiposis Dolorosa
Arthralgia, Memory impairment, Fatigue, Seizure ORPHA:36397
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Pituicytoma
Memory impairment, Fatigue ORPHA:251623
Lead Poisoning
Impairment of activities of daily living, Memory impairment, Seizure, Attention deficit hyperacti... ORPHA:330015
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Exercise intolerance, Gait ataxia, Fatigue, Ataxia, Dysphagia OMIM:613077
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Progressive neurologic deterioration, Fatigue, Agitation, Seizure ORPHA:263455
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Lyme Disease
Arthralgia, Myalgia, Memory impairment, Fatigue ORPHA:91546
Houge-Janssens Syndrome 1
Multifocal seizures, Gait ataxia, Fatigue, Seizure OMIM:616355
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Fatigue, Bilateral tonic-clonic se... ORPHA:42
Myofibrillar Myopathy 11
Fatigue, Dysphagia OMIM:619178
Familial Isolated Dilated Cardiomyopathy
Fatigue ORPHA:154
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Typhoid
Myalgia, Arthralgia, Fatigue, Ataxia, Abdominal pain ORPHA:99745
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Gliosis, Degeneration of anterior horn cells OMIM:604484
Poliomyelitis
Exercise intolerance, Impairment of activities of daily living, Inability to walk, Confusion, Mya... ORPHA:2912
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Cronkhite-Canada Syndrome
Abdominal pain, Fatigue, Seizure, Anorexia ORPHA:2930
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Schnitzler Syndrome
Myalgia, Arthralgia, Fatigue, Bone pain ORPHA:37748
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Limb ataxia, Gait ataxia, Myalgia, Gait disturbance, Fatigue, Ataxia, Truncal ataxia, Unsteady gait OMIM:619259
Machado-Joseph Disease
Chronic pain, Limb ataxia, Gliosis, Ataxia, Dementia, Truncal ataxia, Dysphagia, Progressive cere... OMIM:109150
Cystinosis
Aminoaciduria, Polydipsia, Gait disturbance, Fatigue, Motor stereotypy ORPHA:213
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Myotonia Fluctuans
Myalgia, Choking episodes, Gait disturbance, Fatigue ORPHA:99734
Coenzyme Q10 Deficiency, Primary, 1
Seizure, Myoclonus, Loss of ambulation, Fatigue, Ataxia, Dysphagia, Status epilepticus OMIM:607426
Athyreosis
Fatigue ORPHA:95713
Benign Recurrent Intrahepatic Cholestasis
Abdominal pain, Fatigue, Anorexia ORPHA:65682
Cryptogenic Organizing Pneumonia
Chest pain, Night sweats, Arthralgia, Fatigue, Anorexia ORPHA:1302
Pfapa Syndrome
Abdominal pain, Arthralgia, Fatigue ORPHA:42642
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Car T Cell Therapy-Associated Cytokine Release Syndrome
Confusion, Elevated circulating creatinine concentration, Fatigue, Myalgia ORPHA:542323
Leishmaniasis
Night sweats, Arthralgia, Fatigue, Anorexia ORPHA:507
X-Linked Sideroblastic Anemia
Fatigue ORPHA:75563
Japanese Encephalitis
Myalgia, Myoclonus, Rigors, Chills, Fatigue, Cognitive impairment, Bilateral tonic-clonic seizure... ORPHA:79139
Follicular Lymphoma
Night sweats, Fatigue ORPHA:545
Familial Peripheral Male-Limited Precocious Puberty
Attention deficit hyperactivity disorder, Oligozoospermia, Male infertility ORPHA:3000
Immunodeficiency, Common Variable, 11
Fatigue OMIM:615767
Kufor-Rakeb Syndrome
Mental deterioration, Urinary incontinence, Difficulty walking, Confusion, Short attention span, ... ORPHA:306674
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Exercise intolerance, Postexertional symptom exacerbation, Fatigue, Dysphagia, Exercise-induced m... ORPHA:368
Whipple Disease
Polydipsia, Seizure, Anorexia, Chest pain, Myalgia, Myoclonus, Arthralgia, Fatigue, Ataxia, Abdom... ORPHA:3452
Familial Cold Autoinflammatory Syndrome 1
Arthralgia, Myalgia, Fatigue, Chills OMIM:120100
Unclassified Myelodysplastic Syndrome
Night sweats, Fatigue ORPHA:98827
Autosomal Dominant Optic Atrophy Plus Syndrome
Fatigue, Ataxia ORPHA:1215
Hemochromatosis, Type 4
Arthralgia, Fatigue OMIM:606069
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Chronic fatigue OMIM:234810
Hereditary Late-Onset Parkinson Disease
Mental deterioration, Shuffling gait, Akinesia, Impulsivity, Gliosis, Dementia, Dysphagia, Agitation ORPHA:411602
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Hepatitis, Fulminant Viral, Susceptibility To
Fatigue OMIM:618549
Tick-Borne Encephalitis
Generalized-onset seizure, Limb pain, Myalgia, Back pain, Diminished ability to concentrate, Arth... ORPHA:297
Intellectual Disability And Myopathy Syndrome
Fatigue OMIM:619719
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Myoclonic seizure, Seizure, Fatigue, Ataxia, Restlessness OMIM:617186
Carnitine Palmitoyl Transferase 1A Deficiency
Fatigue, Sudden cardiac death, Seizure ORPHA:156
Aggressive Systemic Mastocytosis
Arthralgia, Fatigue, Constitutional symptom, Anorexia, Abdominal pain, Abdominal cramps, Bone pain ORPHA:98850
Relapsing Fever
Elevated circulating creatinine concentration, Myalgia, Arthralgia, Fatigue, Abdominal pain, Chills ORPHA:91547
Rheumatic Fever
Chest pain, Arthralgia, Gait disturbance, Fatigue, Anorexia, Abdominal pain ORPHA:3099
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility OMIM:620103
Hemochromatosis, Type 3
Fatigue OMIM:604250
L-2-Hydroxyglutaric Aciduria
Gliosis, Seizure, Ataxia OMIM:236792
Classic Galactosemia
Mental deterioration, Depression, Attention deficit hyperactivity disorder, Decreased fertility i... ORPHA:79239
Congenital Sucrase-Isomaltase Deficiency
Abdominal pain, Fatigue, Abdominal colic, Bowel incontinence ORPHA:35122
Liddle Syndrome
Fatigue ORPHA:526
Adrenomyeloneuropathy
Urinary incontinence, Memory impairment, Impaired continence, Back pain, Fatigue, Cognitive impai... ORPHA:139399
Classical-Like Ehlers-Danlos Syndrome Type 1
Arthralgia, Myalgia, Fatigue ORPHA:230839
Analbuminemia
Fatigue OMIM:616000
Autoinflammation With Infantile Enterocolitis
Myalgia, Arthralgia, Fatigue OMIM:616050
Essential Thrombocythemia
Chest pain, Fatigue, Erythromelalgia ORPHA:3318
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Fatigue OMIM:613157
Spinal Arteriovenous Metameric Syndrome
Gangrene, Arthralgia, Fatigue, Bone pain ORPHA:53721
Polymyositis
Myalgia, Arthralgia, Gait disturbance, Fatigue, Anorexia, Abdominal pain ORPHA:732
Mast Cell Sarcoma
Fatigue ORPHA:66661
Abnormal Hair, Joint Laxity, And Developmental Delay
Aggressive behavior, Lower limb pain, Fatigue, Impulsivity OMIM:261990
Alpha-Thalassemia-Myelodysplastic Syndrome
Fatigue ORPHA:231401
Primary Myelofibrosis
Flank pain, Fatigue, Constitutional symptom, Anorexia ORPHA:824
Legionnaires Disease
Anorexia, Chest pain, Myalgia, Arthralgia, Fatigue, Ataxia, Abdominal pain ORPHA:549
Eosinophilic Fasciitis
Arthralgia, Myalgia, Fatigue ORPHA:3165
Isolated Agammaglobulinemia
Fatigue ORPHA:229717
Aregenerative Anemia
Dementia, Fatigue, Cognitive impairment ORPHA:101096
Primary Familial Polycythemia
Abdominal pain, Arthralgia, Fatigue ORPHA:90042
Autoerythrocyte Sensitization Syndrome
Self-injurious behavior, Asthenia, Epigastric pain, Myalgia, Obsessive-compulsive trait, Pain, Ar... ORPHA:324636
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Cognitive impairment, Ataxia, Tics, Abdominal pain, Motor stereotypy, Clonic se... OMIM:619475
Non-Functioning Paraganglioma
Chest pain, Fatigue, Episodic abdominal pain ORPHA:94080
Angiostrongyliasis
Seizure, Neck pain, Myalgia, Pain, Arthralgia, Fatigue, Abdominal pain ORPHA:74
Congenital Heart Block
Exercise intolerance, Fatigue ORPHA:60041
Gaucher Disease Type 3
Gait disturbance, Fatigue, Ataxia, Dementia, Generalized myoclonic seizure, Bone pain ORPHA:77261
Acute Promyelocytic Leukemia
Gangrene, Addictive alcohol use, Fatigue, Anorexia, Abdominal pain, Bone pain ORPHA:520
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Chest pain, Myalgia, Arthralgia, Fatigue ORPHA:79126
Waldenström Macroglobulinemia
Ataxia, Memory impairment, Fatigue, Anorexia ORPHA:33226
Autosomal Dominant Progressive External Ophthalmoplegia
Exercise intolerance, Seizure, Myalgia, Gait ataxia, Gait disturbance, Fatigue, Cognitive impairm... ORPHA:254892
Thymic Carcinoma
Chest pain, Fatigue ORPHA:99868
Osteopetrosis, Autosomal Dominant 3
Asthenia, Fatigue OMIM:618107
Idiopathic Pulmonary Fibrosis
Exercise intolerance, Fatigue ORPHA:2032
Paroxysmal Nocturnal Hemoglobinuria 2
Abdominal pain, Arthralgia, Fatigue OMIM:615399
Refractory Anemia
Fatigue ORPHA:98826
Iatrogenic Botulism
Fatigue, Dysphagia ORPHA:254509
Botulism
Abdominal pain, Fatigue, Dysphagia ORPHA:1267
Cold Agglutinin Disease
Arthralgia, Fatigue, Back pain ORPHA:56425
Idiopathic/Heritable Pulmonary Arterial Hypertension
Chest pain, Fatigue ORPHA:422
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Exercise intolerance, Myalgia, Fatigue OMIM:615418
Cholestasis-Lymphedema Syndrome
Abdominal pain, Fatigue, Bone pain ORPHA:1414
Liposarcoma
Abdominal pain, Fatigue ORPHA:69078
Pediatric Hepatocellular Carcinoma
Abdominal pain, Epigastric pain, Fatigue ORPHA:33402
Septo-Optic Dysplasia Spectrum
Fatigue, Polydipsia, Seizure ORPHA:3157
Lynch Syndrome
Memory impairment, Seizure, Attention deficit hyperactivity disorder, Gait disturbance, Abdominal... ORPHA:144
Glycogen Storage Disease Ixa1
Fatigue OMIM:306000
Giant Cell Arteritis
Ataxia, Myalgia, Gangrene, Arthralgia, Fatigue, Anorexia, Abdominal pain, Sudden cardiac death ORPHA:397
Congenital Myopathy 22A, Classic
Fatigue, Waddling gait OMIM:620351
Papa Syndrome
Arthralgia, Fatigue ORPHA:69126
Acute Monoblastic/Monocytic Leukemia
Fatigue, Anorexia ORPHA:514
Reynolds Syndrome
Myalgia, Dysphagia, Fatigue ORPHA:779
Muckle-Wells Syndrome
Myalgia, Arthralgia, Chronic fatigue OMIM:191900
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Fatigue ORPHA:199296
Dubin-Johnson Syndrome
Abdominal pain, Fatigue ORPHA:234
Autosomal Dominant Dopa-Responsive Dystonia
Compulsive behaviors, Fatigue, Gait ataxia, Ataxia ORPHA:98808
Evans Syndrome
Fatigue ORPHA:1959
Neuroblastoma
Antalgic gait, Myoclonus, Fatigue, Ataxia, Bone pain ORPHA:635
Behçet Disease
Ataxia, Memory impairment, Seizure, Confusion, Myalgia, Gangrene, Gait disturbance, Arthralgia, F... ORPHA:117
Simple Cryoglobulinemia
Seizure, Arthralgia, Fatigue, Progressive neurologic deterioration, Abdominal pain ORPHA:91139
Xeroderma Pigmentosum
Aminoaciduria, Seizure, Arthralgia, Fatigue, Cognitive impairment, Ataxia ORPHA:910
Gitelman Syndrome
Polydipsia, Seizure, Salt craving, Arthralgia, Fatigue, Ataxia, Abdominal pain OMIM:263800
Eosinophilic Granulomatosis With Polyangiitis
Myalgia, Arthralgia, Gait disturbance, Fatigue, Abdominal pain, Dysphagia ORPHA:183
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Fatigue ORPHA:98791
Arachnoiditis
Arthralgia, Fatigue ORPHA:137817
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Chronic Beryllium Disease
Fatigue ORPHA:133
Fixed Drug Eruption
Fatigue, Chills ORPHA:293812
Atrial Standstill
Fatigue, Postexertional symptom exacerbation ORPHA:1344
Creatine Phosphokinase, Elevated Serum
Myalgia, Fatigue OMIM:123320
Portal Hypertension, Noncirrhotic, 2
Fatigue OMIM:619463
Supranuclear Palsy, Progressive, 2
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Gliosis, Dysphagia OMIM:609454
Kaposi Sarcoma
Fatigue ORPHA:33276
Alveolar Echinococcosis
Seizure, Asthenia, Chest pain, Epigastric pain, Low back pain, Fatigue, Ataxia, Abdominal pain ORPHA:284
Systemic Capillary Leak Syndrome
Abdominal pain, Myalgia, Fatigue, Constitutional symptom ORPHA:188
Autosomal Agammaglobulinemia
Fatigue ORPHA:33110
Cinca Syndrome
Myalgia, Arthralgia, Fatigue ORPHA:1451
Barth Syndrome
Exercise intolerance, Gait disturbance, Fatigue OMIM:302060
Spermatogenic Failure 28
Non-obstructive azoospermia, Male infertility OMIM:618086
Mixed-Type Autoimmune Hemolytic Anemia
Arthralgia, Fatigue ORPHA:90036
Isolated Thyroid-Stimulating Hormone Deficiency
Attention deficit hyperactivity disorder, Fatigue ORPHA:90674
Mitochondrial Complex I Deficiency, Nuclear Type 29
Exercise intolerance, Myalgia, Fatigue, Exercise-induced myalgia OMIM:618250
Satoyoshi Syndrome
Fatigue OMIM:600705
Supranuclear Palsy, Progressive, 1
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Astrocytosis, Gliosis,... OMIM:601104
Intellectual Developmental Disorder, X-Linked 112
Attention deficit hyperactivity disorder, Fatigue, Pain OMIM:301111
Immunodeficiency 70
Chronic fatigue OMIM:618969
Deafness-Lymphedema-Leukemia Syndrome
Fatigue ORPHA:3226
Erythrocytosis, Familial, 1
Fatigue OMIM:133100
Late-Onset Isolated Acth Deficiency
Seizure, Arthralgia, Fatigue, Anorexia, Abdominal pain ORPHA:199299
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Seizure, Myoclonus, Fatigue, Anorexia ORPHA:20
Mixed Connective Tissue Disease
Seizure, Chest pain, Myalgia, Arthralgia, Fatigue ORPHA:809
Postorgasmic Illness Syndrome
Fatigue ORPHA:279947
Corticosteroid-Binding Globulin Deficiency
Asthenia, Fatigue OMIM:611489
Proximal Spinal Muscular Atrophy
Difficulty walking, Fatigue, Dysphagia, Inability to walk ORPHA:70
X-Linked Agammaglobulinemia
Fatigue ORPHA:47
Pituitary Apoplexy
Confusion, Trigeminal neuralgia, Fatigue ORPHA:95613
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ... ORPHA:261529
Neuroleptic Malignant Syndrome
Urinary incontinence, Rigors, Fatigue, Delirium, Dysphagia, Agitation ORPHA:94093
Pulmonary Hypertension, Primary, 5
Fatigue OMIM:265400
Post-Traumatic Pituitary Deficiency
Fatigue ORPHA:95619
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Fatigue OMIM:241150
Drug-Induced Autoimmune Hemolytic Anemia
Fatigue ORPHA:90037
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Pain, Low back pain, Flank pain, Fatigue, Anorexia... ORPHA:49041
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Hemorrhagic Fever-Renal Syndrome
Confusion, Elevated circulating creatinine concentration, Myalgia, Fatigue, Abdominal pain, Chill... ORPHA:340
Adult-Onset Still Disease
Asthenia, Myalgia, Arthralgia, Fatigue, Arthralgia/arthritis, Abdominal pain, Pharyngalgia ORPHA:829
Glycogen Storage Disease Due To Acid Maltase Deficiency
Exercise intolerance, Difficulty walking, Inability to walk, Chronic pain, Fatigue, Cognitive imp... ORPHA:365
Avian Influenza
Abdominal pain, Myalgia, Fatigue, Chest pain ORPHA:454836
Autosomal Dominant Hypophosphatemic Rickets
Fatigue, Bone pain ORPHA:89937
Gamma-Heavy Chain Disease
Fatigue, Dysphagia ORPHA:100026
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Fabry Disease
Seizure, Myalgia, Arthralgia, Fatigue, Cognitive impairment, Anorexia, Abdominal pain ORPHA:324
Loeffler Endocarditis
Chest pain, Fatigue ORPHA:75566
Acute Radiation Syndrome
Fatigue, Seizure ORPHA:454831
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tip-toe gait, Seizure, Difficulty walking, Inability to walk, Gait disturbance, Fatigue, Urinary ... ORPHA:466768
Shigellosis
Febrile seizure (within the age range of 3 months to 6 years), Asthenia, Fatigue, Anorexia, Abdom... ORPHA:810
Lymphangioleiomyomatosis
Seizure, Chest pain, Fatigue, Cognitive impairment, Abdominal pain ORPHA:538
Rheumatoid Arthritis
Arthralgia, Fatigue OMIM:180300
Idiopathic Pulmonary Hemosiderosis
Fatigue ORPHA:99931
Glucocorticoid Resistance, Generalized
Fatigue OMIM:615962
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Fatigue ORPHA:257
Atrial Septal Defect, Sinus Venosus Type
Exercise intolerance, Fatigue ORPHA:99105
Spermatogenic Failure 13
Azoospermia, Male infertility OMIM:615841
Cardiac-Valvular Ehlers-Danlos Syndrome
Fatigue, Seizure ORPHA:230851
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Cyclic Neutropenia
Abdominal pain, Fatigue, Bone pain ORPHA:2686
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Fatigue, Chills ORPHA:86884
Acute Adrenal Insufficiency
Seizure, Salt craving, Arthralgia, Fatigue, Anorexia, Abdominal pain ORPHA:95409
Autoimmune Hemolytic Anemia, Warm Type
Arthralgia, Fatigue ORPHA:90033
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Focal myoclonic seizure, Astrocytosis, Myoclonus, Generalized non-c... OMIM:203700
Hennekam-Beemer Syndrome
Abdominal pain, Fatigue, Seizure ORPHA:2135
Exercise-Induced Malignant Hyperthermia
Seizure, Confusion, Fatigue, Ataxia, Delirium ORPHA:466650
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Fatigue, Bone pain ORPHA:324964
Combined Oxidative Phosphorylation Deficiency 33
Exercise intolerance, Fatigue OMIM:617713
Immunodeficiency 97 With Autoinflammation
Abdominal pain, Fatigue OMIM:619802
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Malignant Atrophic Papulosis
Abdominal pain, Fatigue, Seizure, Chest pain ORPHA:679
Thyroid Hemiagenesis
Fatigue ORPHA:95719
Symptomatic Form Of Hfe-Related Hemochromatosis
Abdominal pain, Arthralgia, Fatigue ORPHA:465508
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Fatigue, Chest pain ORPHA:230
Solitary Fibrous Tumor
Night sweats, Fatigue, Low back pain ORPHA:2126
Peripartum Cardiomyopathy
Abdominal pain, Fatigue, Chest pain ORPHA:563
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Fatigue, Polydipsia OMIM:617994
Refractory Anemia With Excess Blasts
Fatigue, Bone pain ORPHA:86839
Vexas Syndrome
Night sweats, Arthralgia, Fatigue OMIM:301054
Inhalational Botulism
Fatigue ORPHA:254504
Erythrocytosis, Familial, 2
Fatigue OMIM:263400
Listeriosis
Seizure, Myalgia, Myoclonus, Arthralgia, Fatigue, Ataxia, Abdominal pain, Chills, Back pain ORPHA:533
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Episodic abdominal pain, Chronic fatigue, Anorexia ORPHA:361
Diets-Jongmans Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Gliosis, Seizure OMIM:618846
Sporadic Pheochromocytoma/Secreting Paraganglioma
Chest pain, Fatigue, Episodic abdominal pain ORPHA:276621
Acth-Independent Macronodular Adrenal Hyperplasia 2
Fatigue OMIM:615954
Macs Syndrome
Fatigue OMIM:613075
Erdheim-Chester Disease
Polydipsia, Fatigue, Ataxia, Abdominal pain, Bone pain ORPHA:35687
Myasthenic Syndrome, Congenital, 21, Presynaptic
Difficulty walking, Exercise intolerance, Fatigue OMIM:617239
Steinert Myotonic Dystrophy
Mental deterioration, Falls, Oral-pharyngeal dysphagia, Inability to walk, Myalgia, Short attenti... ORPHA:273
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Fatigue, Back pain OMIM:619234
Toxic Epidermal Necrolysis
Polydipsia, Fatigue, Dysphagia, Abdominal pain, Sudden cardiac death ORPHA:537
Juvenile Dermatomyositis
Myalgia, Fatigue, Arthralgia, Abdominal pain, Dysphagia ORPHA:93672
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Oligozoospermia, Male infertility ORPHA:48
Necrotizing Enterocolitis
Abdominal rigidity, Fatigue ORPHA:391673
Primary Hepatic Neuroendocrine Carcinoma
Night sweats, Episodic abdominal pain, Chronic fatigue, Anorexia ORPHA:100085
Coccidioidomycosis
Seizure, Chest pain, Myalgia, Fatigue, Cognitive impairment ORPHA:228123
Acute Panmyelosis With Myelofibrosis
Low back pain, Fatigue ORPHA:86843
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Exercise intolerance, Myalgia, Fatigue ORPHA:79240
Al Amyloidosis
Fatigue, Dysphagia ORPHA:85443
Bone Marrow Failure Syndrome 6
Chronic fatigue, Myalgia OMIM:618849
Non-Functioning Pituitary Adenoma
Fatigue, Seizure ORPHA:91349
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myalgia, Arthralgia, Fatigue, Abdominal pain, Bone pain ORPHA:98849
Q Fever
Night sweats, Myalgia, Fatigue, Anorexia ORPHA:781
Generalized Pustular Psoriasis
Arthralgia, Fatigue, Pain ORPHA:247353
Congenital Disorder Of Glycosylation, Type It
Exercise intolerance, Fatigue, Sudden cardiac death OMIM:614921
Thyroid Hypoplasia
Fatigue ORPHA:95720
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Exercise intolerance, Myalgia, Fatigue ORPHA:264580
Functioning Gonadotropic Adenoma
Fatigue ORPHA:91348
Chronic Myeloid Leukemia
Fatigue ORPHA:521
Primary Sjögren Syndrome
Seizure, Chronic pain, Myalgia, Arthralgia, Fatigue, Cognitive impairment, Dementia ORPHA:289390
Congenital Dyserythropoietic Anemia Type Iii
Fatigue ORPHA:98870
Isolated Right Ventricular Hypoplasia
Fatigue ORPHA:439
Congenital Gerbode Defect
Chest pain, Fatigue ORPHA:99095
Klatskin Tumor
Abdominal pain, Fatigue ORPHA:99978
Carney Triad
Abdominal pain, Fatigue, Anorexia ORPHA:139411
Stevens-Johnson Syndrome
Abdominal pain, Sudden cardiac death, Dysphagia, Fatigue ORPHA:36426
Addison Disease
Seizure, Salt craving, Arthralgia, Fatigue, Anorexia, Abdominal pain ORPHA:85138
Immunodeficiency 58
Fatigue, Dysphagia OMIM:618131
Cystic Echinococcosis
Epigastric pain, Fatigue ORPHA:400
Hellp Syndrome
Shoulder pain, Epigastric pain, Fatigue, Abdominal pain, Back pain ORPHA:244242
Hermansky-Pudlak Syndrome
Abdominal pain, Fatigue, Anorexia ORPHA:79430
African Trypanosomiasis
Urinary incontinence, Seizure, Difficulty walking, Akinesia, Aggressive behavior, Rigors, Gait di... ORPHA:3385
Gastrointestinal Stromal Tumor
Fatigue, Dysphagia ORPHA:44890
Polycythemia Vera
Abdominal pain, Arthralgia, Fatigue, Erythromelalgia ORPHA:729
Autoimmune Pulmonary Alveolar Proteinosis
Chest pain, Fatigue ORPHA:747
Nocardiosis
Seizure, Chest pain, Night sweats, Fatigue, Anorexia, Chills, Ocular pain ORPHA:31204
Hereditary Pheochromocytoma-Paraganglioma
Chest pain, Fatigue, Episodic abdominal pain ORPHA:29072
Poems Syndrome
Fatigue, Pain ORPHA:2905
Prolactinoma
Fatigue, Seizure ORPHA:2965
Plague
Chest pain, Arthralgia, Fatigue, Anorexia, Delirium, Abdominal pain, Unsteady gait, Chills ORPHA:707
Granulomatosis With Polyangiitis
Asthenia, Gangrene, Myalgia, Fatigue OMIM:608710
Resistance To Thyrotropin-Releasing Hormone Syndrome
Fatigue ORPHA:99832
Autoimmune Hepatitis
Abdominal pain, Arthralgia, Chronic fatigue ORPHA:2137
Ebstein Malformation Of The Tricuspid Valve
Chest pain, Fatigue, Sudden cardiac death ORPHA:1880
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Episodic abdominal pain, Fatigue, Dysphagia, Mandibular pain, Bone pain ORPHA:99880
Castleman Disease
Abdominal pain, Flank pain, Fatigue, Constitutional symptom ORPHA:160
Parathyroid Carcinoma
Polydipsia, Episodic abdominal pain, Fatigue, Dysphagia, Mandibular pain, Bone pain ORPHA:143
Hereditary Elliptocytosis
Abdominal pain, Exercise intolerance, Fatigue, Chills ORPHA:288
Lymphoid Interstitial Pneumonia
Fatigue ORPHA:79128
Gallbladder Neuroendocrine Tumor
Chronic fatigue, Episodic abdominal pain, Anorexia ORPHA:100086
Multiple Myeloma
Elevated circulating creatinine concentration, Fatigue, Bone pain ORPHA:29073
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility OMIM:277180
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Fatigue ORPHA:300298
Familial Pancreatic Carcinoma
Abdominal pain, Chronic fatigue, Back pain, Anorexia ORPHA:1333
Granulomatosis With Polyangiitis
Seizure, Chest pain, Myalgia, Gangrene, Arthralgia, Fatigue, Abdominal pain ORPHA:900
Overhydrated Hereditary Stomatocytosis
Fatigue OMIM:185000
Chikungunya
Shoulder pain, Seizure, Myalgia, Arthralgia, Fatigue, Knee pain, Chills ORPHA:324625
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Fatigue, Generalized non-motor (absence) seizure ORPHA:293978
Gaucher Disease
Arthralgia, Fatigue, Bilateral tonic-clonic seizure, Ataxia, Abdominal pain, Dysphagia, Generaliz... ORPHA:355
Renal Nutcracker Syndrome
Abdominal pain, Flank pain, Fatigue ORPHA:71273
Arterial Tortuosity Syndrome
Fatigue ORPHA:3342
Hypocalciuric Hypercalcemia, Familial, Type Iii
Fatigue, Bone pain OMIM:600740
Hereditary Xanthinuria
Chronic fatigue, Flank pain ORPHA:3467
Acute Transverse Myelitis
Urinary incontinence, Gait disturbance, Fatigue, Back pain ORPHA:139417
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Elevated circulating creatinine concentration, Myalgia, Flank pain, Arthralgia, Fa... ORPHA:91500
Osteogenesis Imperfecta
Exercise intolerance, Trigeminal neuralgia, Loss of ambulation, Arthralgia, Gait disturbance, Fat... ORPHA:666
Kikuchi-Fujimoto Disease
Anorexia, Myalgia, Night sweats, Arthralgia, Fatigue, Ataxia, Chills ORPHA:50918
Hughes-Stovin Syndrome
Chest pain, Fatigue ORPHA:228116
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Myalgia, Arthralgia, Fatigue ORPHA:183675
Systemic Lupus Erythematosus
Malaise, Fatigue, Seizure, Anorexia ORPHA:536
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Abdominal pain, Fatigue ORPHA:567546
Thyroid Ectopia
Fatigue, Dysphagia ORPHA:95712
Congenital Analbuminemia
Fatigue ORPHA:86816
Witteveen-Kolk Syndrome
Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, Fatigue, Hyperactivity OMIM:613406
Menkes Disease
Fatigue, Seizure ORPHA:565
Infection-Related Hemolytic Uremic Syndrome
Abdominal pain, Abdominal cramps, Fatigue, Seizure ORPHA:544482
Brucellosis
Asthenia, Arthralgia, Fatigue, Anorexia, Abdominal pain, Chills ORPHA:1304
Atrial Septal Defect, Ostium Primum Type
Exercise intolerance, Fatigue ORPHA:99106
Tetrasomy 9P
Inappropriate behavior, Fatigue, Hyperactivity, Seizure ORPHA:3310
Zygomycosis
Abdominal pain, Fatigue, Pain, Chest pain ORPHA:73263
Wiskott-Aldrich Syndrome
Chest pain, Fatigue, Sudden cardiac death ORPHA:906
Congenital Fiber-Type Disproportion Myopathy
Fatigue, Dysphagia ORPHA:2020
Sheehan Syndrome
Chronic fatigue, Arthralgia, Chills ORPHA:91355
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Fatigue ORPHA:309031
Insulin-Resistance Syndrome Type B
Fatigue ORPHA:2298
Marfan Syndrome
Chronic fatigue, Attention deficit hyperactivity disorder, Myalgia, Arthralgia/arthritis ORPHA:558
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Arthralgia, Fatigue ORPHA:562639
Tsh-Secreting Pituitary Adenoma
Fatigue, Seizure ORPHA:91347
Primary Biliary Cholangitis
Fatigue ORPHA:186
Atrial Septal Defect, Coronary Sinus Type
Exercise intolerance, Fatigue ORPHA:99104
Secondary Intestinal Lymphangiectasia
Fatigue, Abdominal colic ORPHA:90363
Dehydrated Hereditary Stomatocytosis
Abdominal pain, Episodic fatigue ORPHA:3202
Lymphatic Filariasis
Fatigue, Pain ORPHA:2035
Familial Hypocalciuric Hypercalcemia
Episodic abdominal pain, Hypocalcemic seizures, Fatigue ORPHA:405
Dermatomyositis
Myalgia, Gangrene, Arthralgia, Fatigue, Dysphagia ORPHA:221
Malt Lymphoma
Abdominal pain, Fatigue ORPHA:52417
Immunodeficiency 31C
Fatigue OMIM:614162
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Abdominal pain, Fatigue ORPHA:449395
Primary Sclerosing Cholangitis
Abdominal pain, Fatigue ORPHA:171
Gaisböck Syndrome
Epigastric pain, Fatigue ORPHA:90041
Selective Igm Deficiency
Chronic fatigue ORPHA:331235
Atrial Septal Defect, Ostium Secundum Type
Exercise intolerance, Fatigue ORPHA:99103
Somatostatinoma
Episodic abdominal pain, Chronic fatigue, Anorexia ORPHA:97283
Autoinflammatory Disease, Systemic, With Vasculitis
Abdominal pain, Arthralgia, Fatigue OMIM:620376
Vipoma
Episodic abdominal pain, Chronic fatigue, Anorexia ORPHA:97282
Pulmonary Alveolar Microlithiasis
Chest pain, Fatigue ORPHA:60025
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Fatigue ORPHA:226307
Glucagonoma
Episodic abdominal pain, Chronic fatigue, Anorexia ORPHA:97280
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Oral-pharyngeal dysphagia, Anorexia, Myalgia, Fatigue, Vulvodynia ORPHA:95455
Kawasaki Disease
Abdominal pain, Arthralgia, Fatigue ORPHA:2331
Generalized Glucocorticoid Resistance Syndrome
Fatigue ORPHA:786
Acromegaly
Arthralgia, Fatigue ORPHA:963
Somatomammotropinoma
Arthralgia, Fatigue ORPHA:314769
Ileal Neuroendocrine Tumor
Episodic abdominal pain, Chronic fatigue ORPHA:100078
Chronic Thromboembolic Pulmonary Hypertension
Fatigue ORPHA:70591
Classical Ehlers-Danlos Syndrome
Limb pain, Arthralgia, Fatigue ORPHA:287
Loeys-Dietz Syndrome 6
Chronic fatigue, Arthralgia OMIM:619656
Igg4-Related Dacryoadenitis And Sialadenitis
Fatigue ORPHA:79078
Combined Pituitary Hormone Deficiencies, Genetic Forms
Fatigue, Seizure ORPHA:95494
Hypermobile Ehlers-Danlos Syndrome
Chronic pain, Myalgia, Arthralgia, Fatigue ORPHA:285
Eisenmenger Syndrome
Chest pain, Exercise intolerance, Fatigue ORPHA:97214
Laubry-Pezzi Syndrome
Chest pain, Fatigue ORPHA:99094
Sarcoidosis
Chest pain, Fatigue ORPHA:797
Non-Acquired Panhypopituitarism
Fatigue ORPHA:90695
Interatrial Communication
Fatigue ORPHA:1478
Goodpasture Syndrome
Chest pain, Fatigue, Chills OMIM:233450
Adenocarcinoma Of The Anal Canal
Chronic fatigue, Abdominal pain ORPHA:424016
Tropical Endomyocardial Fibrosis
Fatigue ORPHA:75565
Loeys-Dietz Syndrome 1
Chronic fatigue OMIM:609192
Aneurysm-Osteoarthritis Syndrome
Chronic fatigue ORPHA:284984
Juvenile Polyposis Syndrome
Abdominal pain, Chronic fatigue ORPHA:2929
Loeys-Dietz Syndrome 3
Chronic fatigue, Sudden death OMIM:613795
Congenital Total Pulmonary Venous Return Anomaly
Fatigue ORPHA:99125
L-2-Hydroxyglutaric Aciduria
Seizure ORPHA:79314

Histopathology

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

Phenotype Allele Zygosity Sex Life Stage
Sciatic nerve - MPATH pathological process term hydropic degeneration L2hgdhem1(IMPC)Tcp HOM Early adult
Eye - MPATH pathological process term dysplasia L2hgdhem1(IMPC)Tcp HOM Early adult
Brain - MPATH pathological process term encephalomalacia L2hgdhem1(IMPC)Tcp HOM Early adult
Brain - MPATH pathological process term vacuolation L2hgdhem1(IMPC)Tcp HOM Early adult
Spinal cord - MPATH pathological process term vacuolation L2hgdhem1(IMPC)Tcp HOM Early adult
Sciatic nerve - MPATH pathological process term dysplasia L2hgdhem1(IMPC)Tcp HOM Early adult
Spinal cord - MPATH pathological process term gliosis L2hgdhem1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term atrophy L2hgdhem1(IMPC)Tcp HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to L2hgdh.

No publications found that use IMPC mice or data for L2hgdh.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
L2hgdhem1(IMPC)Tcp Exon Deletion Mice
L2hgdhtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
L2hgdhtm85376(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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