Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment L2hgdhem1(IMPC)Tcp HOM Early adult 1.35×10-06
male infertility L2hgdhem1(IMPC)Tcp HOM Early adult 0.00
abnormal eye morphology L2hgdhem1(IMPC)Tcp HOM Early adult 0.00

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Select physiological systems to view:
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Viewing: all phenotypes

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.

Eye Morphology

Images Ophthalmoscopy

98 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

34 Images

Histopathology

Images

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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