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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
cataract L2hgdhem1(IMPC)Tcp HOM Early adult 9.22×10-05
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

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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.

Eye Morphology

Images Ophthalmoscopy

98 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 Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Histopathology

Images

30 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body 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
Seizure, Ataxia, Gliosis 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, Abnormal oligodendroglia morphology, Dysmetria, Gait ataxia, Seizu... ORPHA:217260
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Seizure, Hyperlysinuria, Cognitive impairment OMIM:238700
Pelizaeus-Merzbacher Disease
Psychomotor deterioration, Broad-based gait, Ataxia, Reduction of oligodendroglia, Inability to w... OMIM:312080
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic s... OMIM:617113
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Fatigue, Seizure, Gait disturbance, Anorexia ORPHA:79283
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
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
Hartnup Disorder
Hyperactivity, Seizure, Attention deficit hyperactivity disorder, Episodic ataxia, Neutral hypera... OMIM:234500
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Infertility OMIM:300719
Pick Disease Of Brain
Frontotemporal dementia, Polyphagia, Disinhibition, Inappropriate laughter, Gliosis, Abnormal rep... OMIM:172700
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Aggressive behavior... ORPHA:2382
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence, Aggressive behavior, Frontal lobe dementia, Seizure, Dementia, Inappropriat... OMIM:221770
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Urinary incontinence, Aggressive behavior, Frontotemporal dementia, Astrocytosis, I... OMIM:600795
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Fatigue, Gait disturbance, Myoclonus, Cognitive impairment ORPHA:314632
Immunodeficiency 83, Susceptibility To Viral Infections
Mental deterioration, Seizure, Gliosis, Confusion OMIM:613002
Hyperprolinemia Type 2
Early onset absence seizures, Short attention span, Exercise intolerance, Generalized-onset seizu... ORPHA:79101
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Macrophagic Myofasciitis
Fatigue, Arthralgia, Myalgia ORPHA:592
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
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Frontal lobe dementia, Seizure, Gait disturbance, Shuffling gait, Gliosis, Dysphagia, Mental dete... OMIM:221820
Huntington Disease
Seizure, Dementia, Gliosis, Gait ataxia OMIM:143100
Mantle Cell Lymphoma
Fatigue, Anorexia ORPHA:52416
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Confusion, Urinary incontinence, Aggressive behavior, Dysmetria, Gait a... OMIM:607136
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Frontotemporal dementia, Athetosis, Gliosis, Dysphagia OMIM:300857
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... OMIM:301008
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Mal De Débarquement
Fatigue, Unsteady gait, Confusion, Gait imbalance ORPHA:210272
Methylmalonic Acidemia With Homocystinuria
Fatigue, Seizure, Gait disturbance ORPHA:26
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Pontiac Fever
Fatigue, Myalgia ORPHA:99748
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Fatigue, Exercise intolerance, Ataxia, Chest pain, Gait disturbance, Myalgia, Mental deterioratio... ORPHA:1349
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Epiphyseal Dysplasia, Multiple, 2
Waddling gait, Fatigue, Broad-based gait, Knee pain, Foot pain OMIM:600204
Cholangiocarcinoma
Fatigue, Anorexia, Abdominal pain ORPHA:70567
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Mitochondrial Myopathy With Lactic Acidosis
Fatigue, Dysmetria, Seizure, Tip-toe gait, Focal impaired awareness seizure OMIM:251950
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... ORPHA:101039
Spinocerebellar Ataxia, Autosomal Recessive 27
Spastic ataxia, Aggressive behavior, Gait ataxia, Gait disturbance, Gait imbalance, Gliosis, Dysp... OMIM:618369
Glioblastoma
Glioblastoma multiforme, Memory impairment, Fatigue, Seizure ORPHA:360
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fatigue, Seizure, Agitation, Progressive neurologic deterioration ORPHA:276608
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Fatigue, Impulsivity, Seizure, Gait disturbance, Attention deficit hyperactivity disorder ORPHA:589905
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Fatigue, Falls OMIM:616326
New-Onset Refractory Status Epilepticus
Fatigue, Seizure precipitated by febrile infection, Confusion, Bilateral tonic-clonic seizure wit... ORPHA:363558
Spinocerebellar Ataxia, Autosomal Recessive 13
Fatigue, Ataxia, Inability to walk, Dysmetria, Gait ataxia, Seizure, Dysdiadochokinesis OMIM:614831
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Confusion, Astrocytosis, Dementia, Gliosis, Myoclonus, Cognitive impairment, Memory impai... ORPHA:204
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Undifferentiated Pleomorphic Sarcoma
Fatigue, Anorexia ORPHA:2023
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Alexander Disease
Fatigue, Ataxia, Dysmetria, Seizure, Palatal tremor OMIM:203450
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Seizure, Dementia, Gliosis, Myoclonus OMIM:604218
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Exercise intolerance, Generalized-onset seizure, Chronic fatigue, Dysphagia, Myalgia, Difficulty ... ORPHA:254875
Tremor, Hereditary Essential, 2
Fatigue OMIM:602134
Tuberculosis
Fatigue ORPHA:3389
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Fatigue, Ataxia, Confusion, Seizure, Agitation, Cognitive impairment, Abnormal repetitive manneri... ORPHA:927
Congenital Glucokinase-Related Hyperinsulinism
Fatigue, Seizure ORPHA:79299
Mucolipidosis Type Iii
Fatigue, Cognitive impairment ORPHA:577
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
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
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Fatigue OMIM:619477
Leukoencephalopathy With Vanishing White Matter 2
Memory impairment, Cataract, Premature ovarian insufficiency, Secondary amenorrhea OMIM:620312
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Hemimegalencephaly
Epileptic spasm, Focal motor seizure, Focal tonic seizure, Seizure, Gliosis, Myoclonus, Status ep... ORPHA:99802
Hyperinsulinism Due To Insr Deficiency
Fatigue, Seizure ORPHA:263458
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Adiposis Dolorosa
Fatigue, Arthralgia, Chronic pain OMIM:103200
Autosomal Dominant Spastic Paraplegia Type 37
Fatigue, Seizure, Spastic gait, Difficulty walking ORPHA:171612
Leukoencephalopathy With Vanishing White Matter 1
Unsteady gait, Seizure, Gait disturbance, Gliosis, Memory impairment OMIM:603896
Babesiosis
Fatigue, Confusion, Anorexia, Arthralgia, Myalgia ORPHA:108
Spongiform Encephalopathy With Neuropsychiatric Features
Memory impairment, Dementia, Gliosis, Aggressive behavior OMIM:606688
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Fatigue, Exercise intolerance, Seizure, Dementia, Gait disturbance, Myalgia, Dysphagia OMIM:609286
Hypotonia-Cystinuria Syndrome
Fatigue, Polyphagia, Cystinuria ORPHA:163690
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Frontotemporal dementia, Hypersexuality, Agitation, Progressive l... OMIM:607485
Nipah Virus Disease
Fatigue, Anorexia, Seizure, Myalgia, Myoclonus ORPHA:99825
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Chronic fatigue, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Bone pain, Seiz... OMIM:610539
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Kufor-Rakeb Syndrome
Fatigue, Ataxia, Akinesia, Aggressive behavior, Seizure, Dementia, Gait disturbance, Myoclonus, D... OMIM:606693
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Atypical Juvenile Parkinsonism
Fatigue, Akinesia, Inability to walk, Gait ataxia, Seizure, Shuffling gait, Myoclonus, Short step... ORPHA:391411
Spontaneous Periodic Hypothermia
Fatigue, Seizure, Ataxia, Gait disturbance ORPHA:29822
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Frontotemporal dementia, D... OMIM:105550
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Frontotemporal dementia, Progressive cerebellar ataxia, G... ORPHA:275872
Hypothyroidism, Congenital, Nongoitrous, 7
Fatigue OMIM:618573
Developmental And Epileptic Encephalopathy 14
Focal autonomic seizure, Focal motor seizure, Gliosis, Status epilepticus, Generalized tonic seizure OMIM:614959
Brain Dopamine-Serotonin Vesicular Transport Disease
Fatigue, Ataxia, Dysdiadochokinesis, Gait disturbance, Shuffling gait, Cognitive impairment ORPHA:352649
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Loss of ambulation, Fatigue OMIM:253601
Autosomal Dominant Optic Atrophy, Classic Form
Fatigue, Ataxia, Seizure, Dementia, Gait disturbance, Myalgia, Cognitive impairment, Dysphagia ORPHA:98673
Laryngeal Neuroendocrine Tumor
Chronic fatigue, Anorexia, Oral-pharyngeal dysphagia ORPHA:100083
Pontocerebellar Hypoplasia, Type 4
Seizure, Gliosis, Myoclonus, Dysphagia OMIM:225753
L-2-Hydroxyglutaric Aciduria
Seizure, Ataxia, Gliosis OMIM:236792
Parkinsonism-Dystonia 2, Infantile-Onset
Fatigue, Dysdiadochokinesis, Ataxia, Shuffling gait OMIM:618049
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Fatigue, Anorexia ORPHA:86893
Huntington Disease-Like 1
Restlessness, Dysmetria, Gait ataxia, Seizure, Dementia, Gait disturbance, Gliosis, Cognitive imp... ORPHA:157941
Progressive Supranuclear Palsy
Impulsivity, Unsteady gait, Dementia, Falls, Gliosis, Cognitive impairment, Dysphagia, Memory imp... ORPHA:683
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Fatigue, Attention deficit hyperactivity disorder OMIM:274300
Combined Oxidative Phosphorylation Deficiency 28
Fatigue, Abdominal pain OMIM:616794
Sengers Syndrome
Mental deterioration, Fatigue, Exercise intolerance, Sudden cardiac death OMIM:212350
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Gliosis OMIM:213200
Becker Muscular Dystrophy
Exercise intolerance, Fatigue, Tip-toe gait, Falls, Myalgia, Difficulty walking ORPHA:98895
Developmental And Epileptic Encephalopathy 71
Seizure, Gliosis OMIM:618328
Hypogonadism-Cataract Syndrome
Male hypogonadism, Cataract, Hypogonadism, Infertility OMIM:240950
Parkinson Disease 1, Autosomal Dominant
Dementia, Gait disturbance, Shuffling gait, Gliosis, Dysphagia, Mental deterioration, Loss of amb... OMIM:168601
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Acquired Methemoglobinemia
Fatigue, Seizure, Confusion, Abdominal pain ORPHA:464453
Familial Cold Urticaria
Fatigue, Abdominal pain, Arthralgia, Myalgia, Polydipsia ORPHA:47045
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Loss of ambulation, Fatigue, Shuffling gait ORPHA:209335
Insulinoma
Fatigue, Seizure, Transient global amnesia, Polyphagia ORPHA:97279
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Fatigue, Aggressive behavior, Self-injurious behavior, Seizure, Compulsive behaviors, Dysphagia, ... OMIM:617061
Familial Atrial Fibrillation
Exercise intolerance, Fatigue, Chest pain ORPHA:334
Takayasu Arteritis
Fatigue, Anorexia, Seizure, Chest pain, Arthralgia, Myalgia, Gangrene ORPHA:3287
Herpes Simplex Virus Encephalitis
Fatigue, Seizure, Addictive alcohol use, Focal impaired awareness seizure, Focal aware seizure, S... ORPHA:1930
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Inhalational Anthrax
Fatigue, Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal... ORPHA:247257
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Bowel incontinence, Progressive neurologic deterioration, Pseudobulbar paralysis, Gliosis OMIM:169500
Parkinson Disease 20, Early-Onset
Fatigue, Gait disturbance, Shuffling gait, Dysphagia, Mental deterioration, Short stepped shuffli... OMIM:615530
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy, Cognitive impairment ORPHA:276183
Pituicytoma
Fatigue, Memory impairment ORPHA:251623
Adiposis Dolorosa
Fatigue, Memory impairment, Seizure, Arthralgia ORPHA:36397
Postpoliomyelitis Syndrome
Fatigue, Arthralgia, Myalgia, Dysphagia, Pain ORPHA:2942
Classic Hodgkin Lymphoma
Fatigue, Ataxia, Anorexia, Bone pain, Chest pain ORPHA:391
Lynch Syndrome
Fatigue, Glioblastoma multiforme, Abdominal pain, Seizure, Gait disturbance, Attention deficit hy... ORPHA:144
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Exercise intolerance, Fatigue, Ataxia, Gait ataxia, Dysphagia OMIM:613077
Lyme Disease
Fatigue, Memory impairment, Arthralgia, Myalgia ORPHA:91546
Lead Poisoning
Fatigue, Anorexia, Abdominal pain, Seizure, Abdominal cramps, Attention deficit hyperactivity dis... ORPHA:330015
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Fatigue, Seizure, Agitation, Progressive neurologic deterioration ORPHA:263455
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Houge-Janssens Syndrome 1
Fatigue, Seizure, Multifocal seizures, Gait ataxia OMIM:616355
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigue, Ataxia, Bilateral tonic-clonic seizure, Exercise-induced myalgia, Febrile seizure (withi... ORPHA:42
Familial Colorectal Cancer Type X
Fatigue, Glioblastoma multiforme, Abdominal pain, Seizure, Gait disturbance, Attention deficit hy... ORPHA:440437
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Gait disturbance, Gliosis OMIM:604484
Myofibrillar Myopathy 11
Fatigue, Dysphagia OMIM:619178
Typhoid
Fatigue, Ataxia, Abdominal pain, Arthralgia, Myalgia ORPHA:99745
Poliomyelitis
Fatigue, Exercise intolerance, Confusion, Anorexia, Inability to walk, Arthralgia, Agitation, Mya... ORPHA:2912
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Amyotrophic Lateral Sclerosis
Fatigue, Amyotrophic lateral sclerosis, Motor neuron atrophy, Agitation, Pain ORPHA:803
Cronkhite-Canada Syndrome
Fatigue, Seizure, Anorexia, Abdominal pain ORPHA:2930
Classic Galactosemia
Male infertility, Cataract, Premature ovarian insufficiency, Decreased fertility in females, Cryp... ORPHA:79239
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Schnitzler Syndrome
Fatigue, Arthralgia, Bone pain, Myalgia ORPHA:37748
Machado-Joseph Disease
Ataxia, Truncal ataxia, Limb ataxia, Chronic pain, Progressive cerebellar ataxia, Dementia, Glios... OMIM:109150
Thyroid Hemiagenesis
Fatigue ORPHA:95719
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Seizure, Gliosis, Gait disturbance, Abnormal repetitive mannerism... ORPHA:457240
Cystinosis
Fatigue, Aminoaciduria, Gait disturbance, Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Fatigue, Ataxia, Unsteady gait, Limb ataxia, Gait ataxia, Gait disturbance, Myalgia, Truncal ataxia OMIM:619259
Coenzyme Q10 Deficiency, Primary, 1
Fatigue, Ataxia, Seizure, Status epilepticus, Myoclonus, Dysphagia, Loss of ambulation OMIM:607426
Athyreosis
Fatigue ORPHA:95713
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Attention deficit hyperactivity disorder, Oligozoospermia ORPHA:3000
Car T Cell Therapy-Associated Cytokine Release Syndrome
Fatigue, Elevated circulating creatinine concentration, Confusion, Myalgia ORPHA:542323
Benign Recurrent Intrahepatic Cholestasis
Fatigue, Anorexia, Abdominal pain ORPHA:65682
Pfapa Syndrome
Fatigue, Arthralgia, Abdominal pain ORPHA:42642
X-Linked Sideroblastic Anemia
Fatigue ORPHA:75563
Immunodeficiency, Common Variable, 11
Fatigue OMIM:615767
Myotonia Fluctuans
Fatigue, Gait disturbance, Myalgia, Choking episodes ORPHA:99734
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Follicular Lymphoma
Fatigue, Night sweats ORPHA:545
Leishmaniasis
Fatigue, Night sweats, Arthralgia, Anorexia ORPHA:507
Japanese Encephalitis
Fatigue, Rigors, Bilateral tonic-clonic seizure, Anorexia, Abdominal pain, Paucity of anterior ho... ORPHA:79139
Cryptogenic Organizing Pneumonia
Fatigue, Anorexia, Night sweats, Arthralgia, Chest pain ORPHA:1302
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Fatigue, Exercise intolerance, Exercise-induced myalgia, Dysphagia, Postexertional symptom exacer... ORPHA:368
Kufor-Rakeb Syndrome
Fatigue, Short attention span, Confusion, Urinary incontinence, Bowel incontinence, Dementia, Gai... ORPHA:306674
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Primary Non-Essential Cutis Verticis Gyrata
Seizure, Gliosis ORPHA:357225
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Chronic fatigue OMIM:234810
Hemochromatosis, Type 4
Fatigue, Arthralgia OMIM:606069
Autosomal Dominant Optic Atrophy Plus Syndrome
Fatigue, Ataxia ORPHA:1215
Whipple Disease
Fatigue, Ataxia, Anorexia, Abdominal pain, Seizure, Arthralgia, Chest pain, Myoclonus, Myalgia, P... ORPHA:3452
Familial Cold Autoinflammatory Syndrome 1
Fatigue, Chills, Arthralgia, Myalgia OMIM:120100
Hereditary Late-Onset Parkinson Disease
Akinesia, Impulsivity, Dementia, Agitation, Shuffling gait, Gliosis, Dysphagia, Mental deterioration ORPHA:411602
Unclassified Myelodysplastic Syndrome
Fatigue, Night sweats ORPHA:98827
Tick-Borne Encephalitis
Back pain, Fatigue, Generalized-onset seizure, Anorexia, Focal-onset seizure, Limb pain, Diminish... ORPHA:297
Hepatitis, Fulminant Viral, Susceptibility To
Fatigue OMIM:618549
Intellectual Disability And Myopathy Syndrome
Fatigue OMIM:619719
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Fatigue, Restlessness, Ataxia, Myoclonic seizure, Seizure OMIM:617186
Carnitine Palmitoyl Transferase 1A Deficiency
Fatigue, Seizure, Sudden cardiac death ORPHA:156
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Rheumatic Fever
Fatigue, Anorexia, Abdominal pain, Arthralgia, Gait disturbance, Chest pain ORPHA:3099
Relapsing Fever
Fatigue, Abdominal pain, Elevated circulating creatinine concentration, Arthralgia, Myalgia, Chills ORPHA:91547
Aggressive Systemic Mastocytosis
Fatigue, Anorexia, Abdominal pain, Bone pain, Arthralgia, Abdominal cramps, Constitutional symptom ORPHA:98850
Adrenomyeloneuropathy
Back pain, Fatigue, Urinary incontinence, Bowel incontinence, Impaired continence, Cognitive impa... ORPHA:139399
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Liddle Syndrome
Fatigue ORPHA:526
Neurodegeneration With Brain Iron Accumulation 2A
Seizure, Unsteady gait, Ataxia, Gliosis OMIM:256600
Hemochromatosis, Type 3
Fatigue OMIM:604250
Analbuminemia
Fatigue OMIM:616000
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Classical-Like Ehlers-Danlos Syndrome Type 1
Fatigue, Arthralgia, Myalgia ORPHA:230839
Spinal Arteriovenous Metameric Syndrome
Fatigue, Gangrene, Arthralgia, Bone pain ORPHA:53721
Autoinflammation With Infantile Enterocolitis
Fatigue, Arthralgia, Myalgia OMIM:616050
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Fatigue OMIM:613157
Mast Cell Sarcoma
Fatigue ORPHA:66661
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Polymyositis
Fatigue, Anorexia, Abdominal pain, Arthralgia, Gait disturbance, Myalgia ORPHA:732
Alpha-Thalassemia-Myelodysplastic Syndrome
Fatigue ORPHA:231401
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Abnormal Hair, Joint Laxity, And Developmental Delay
Fatigue, Lower limb pain, Impulsivity, Aggressive behavior OMIM:261990
Aregenerative Anemia
Fatigue, Dementia, Cognitive impairment ORPHA:101096
Legionnaires Disease
Fatigue, Ataxia, Anorexia, Abdominal pain, Arthralgia, Chest pain, Myalgia ORPHA:549
Isolated Agammaglobulinemia
Fatigue ORPHA:229717
Eosinophilic Fasciitis
Fatigue, Arthralgia, Myalgia ORPHA:3165
Primary Myelofibrosis
Fatigue, Flank pain, Constitutional symptom, Anorexia ORPHA:824
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Clonic seizure, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Fatigue, R... OMIM:619475
Non-Functioning Paraganglioma
Fatigue, Chest pain, Episodic abdominal pain ORPHA:94080
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
Autoerythrocyte Sensitization Syndrome
Fatigue, Self-injurious behavior, Arthralgia, Asthenia, Myalgia, Epigastric pain, Pain, Obsessive... ORPHA:324636
Congenital Heart Block
Fatigue, Exercise intolerance ORPHA:60041
Gaucher Disease Type 3
Fatigue, Ataxia, Bone pain, Dementia, Gait disturbance, Generalized myoclonic seizure ORPHA:77261
Angiostrongyliasis
Fatigue, Abdominal pain, Seizure, Arthralgia, Myalgia, Neck pain, Pain ORPHA:74
Acute Interstitial Pneumonia
Fatigue, Elevated circulating creatinine concentration, Chest pain, Arthralgia, Myalgia ORPHA:79126
Pediatric Hepatocellular Carcinoma
Fatigue, Epigastric pain, Abdominal pain ORPHA:33402
Genetic Hyperferritinemia Without Iron Overload
Fatigue, Arthralgia ORPHA:254704
Pontocerebellar Hypoplasia, Type 2A
Restlessness, Seizure, Gliosis, Dysphagia OMIM:277470
Primary Familial Polycythemia
Fatigue, Arthralgia, Abdominal pain ORPHA:90042
Iatrogenic Botulism
Fatigue, Dysphagia ORPHA:254509
Autosomal Dominant Progressive External Ophthalmoplegia
Fatigue, Exercise intolerance, Ataxia, Gait ataxia, Seizure, Gait disturbance, Myalgia, Cognitive... ORPHA:254892
Acute Promyelocytic Leukemia
Fatigue, Anorexia, Abdominal pain, Bone pain, Addictive alcohol use, Gangrene ORPHA:520
Waldenström Macroglobulinemia
Fatigue, Memory impairment, Ataxia, Anorexia ORPHA:33226
Botulism
Fatigue, Abdominal pain, Dysphagia ORPHA:1267
Thymic Carcinoma
Fatigue, Chest pain ORPHA:99868
Osteopetrosis, Autosomal Dominant 3
Fatigue, Asthenia OMIM:618107
Paroxysmal Nocturnal Hemoglobinuria 2
Fatigue, Arthralgia, Abdominal pain OMIM:615399
Idiopathic/Heritable Pulmonary Arterial Hypertension
Fatigue, Chest pain ORPHA:422
Refractory Anemia
Fatigue ORPHA:98826
Glycogen Storage Disease Ixa1
Fatigue OMIM:306000
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Fatigue, Exercise intolerance, Myalgia OMIM:615418
Cholestasis-Lymphedema Syndrome
Fatigue, Bone pain, Abdominal pain ORPHA:1414
Cold Agglutinin Disease
Back pain, Fatigue, Arthralgia ORPHA:56425
Septo-Optic Dysplasia Spectrum
Fatigue, Seizure, Polydipsia ORPHA:3157
Liposarcoma
Fatigue, Abdominal pain ORPHA:69078
Tay-Sachs Disease
Short attention span, Inability to walk, Typical absence seizure, Dysmetria, Seizure, Gait distur... ORPHA:845
Giant Cell Arteritis
Fatigue, Ataxia, Sudden cardiac death, Anorexia, Abdominal pain, Arthralgia, Myalgia, Gangrene ORPHA:397
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Seizure, Gliosis OMIM:608033
Muckle-Wells Syndrome
Myalgia, Arthralgia, Chronic fatigue OMIM:191900
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Autosomal Dominant Dopa-Responsive Dystonia
Fatigue, Ataxia, Compulsive behaviors, Gait ataxia ORPHA:98808
Reynolds Syndrome
Fatigue, Myalgia, Dysphagia ORPHA:779
Papa Syndrome
Fatigue, Arthralgia ORPHA:69126
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Congenital Myopathy 22A, Classic
Waddling gait, Fatigue OMIM:620351
Simple Cryoglobulinemia
Fatigue, Progressive neurologic deterioration, Abdominal pain, Seizure, Arthralgia ORPHA:91139
Acute Monoblastic/Monocytic Leukemia
Fatigue, Anorexia ORPHA:514
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Behçet Disease
Fatigue, Ataxia, Confusion, Anorexia, Abdominal pain, Seizure, Arthralgia, Gait disturbance, Myal... ORPHA:117
Combined Oxidative Phosphorylation Deficiency 14
Myoclonic seizure, Seizure, Aminoaciduria, Gliosis, Myoclonus, Basal ganglia gliosis OMIM:614946
Xeroderma Pigmentosum
Fatigue, Ataxia, Seizure, Aminoaciduria, Arthralgia, Cognitive impairment ORPHA:910
Dubin-Johnson Syndrome
Fatigue, Abdominal pain ORPHA:234
Gitelman Syndrome
Fatigue, Salt craving, Ataxia, Abdominal pain, Seizure, Arthralgia, Polydipsia OMIM:263800
Fixed Drug Eruption
Fatigue, Chills ORPHA:293812
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Fatigue ORPHA:98791
Arachnoiditis
Fatigue, Arthralgia ORPHA:137817
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Pelizaeus-Merzbacher Disease, Connatal Form
Ataxia, Inability to walk, Dystonic gait, Gliosis, Difficulty walking ORPHA:280210
Eosinophilic Granulomatosis With Polyangiitis
Fatigue, Abdominal pain, Arthralgia, Gait disturbance, Myalgia, Dysphagia ORPHA:183
Creatine Phosphokinase, Elevated Serum
Fatigue, Myalgia OMIM:123320
Familial Acute Necrotizing Encephalopathy
Seizure, Gait disturbance, Gliosis ORPHA:88619
Barth Syndrome
Fatigue, Exercise intolerance, Gait disturbance OMIM:302060
Evans Syndrome
Fatigue ORPHA:1959
Supranuclear Palsy, Progressive, 2
Akinesia, Falls, Gait imbalance, Gliosis, Dysphagia, Memory impairment, Frontolimbic dementia OMIM:609454
Congenital Isolated Acth Deficiency
Fatigue, Hypoglycemic seizures ORPHA:199296
Kaposi Sarcoma
Fatigue ORPHA:33276
Adult-Onset Still Disease
Fatigue, Arthralgia, Myalgia, Abdominal pain ORPHA:829
Chronic Beryllium Disease
Fatigue ORPHA:133
Atrial Standstill
Fatigue, Postexertional symptom exacerbation ORPHA:1344
Supranuclear Palsy, Progressive, 1
Akinesia, Astrocytosis, Falls, Gait imbalance, Gliosis, Dysphagia, Memory impairment, Frontolimbi... OMIM:601104
Mitochondrial Complex I Deficiency, Nuclear Type 29
Fatigue, Exercise-induced myalgia, Exercise intolerance, Myalgia OMIM:618250
Cinca Syndrome
Fatigue, Arthralgia, Myalgia ORPHA:1451
Autosomal Agammaglobulinemia
Fatigue ORPHA:33110
Satoyoshi Syndrome
Fatigue OMIM:600705
Portal Hypertension, Noncirrhotic, 2
Fatigue OMIM:619463
Alveolar Echinococcosis
Fatigue, Low back pain, Ataxia, Abdominal pain, Seizure, Chest pain, Asthenia, Epigastric pain ORPHA:284
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Mixed-Type Autoimmune Hemolytic Anemia
Fatigue, Arthralgia ORPHA:90036
Isolated Thyroid-Stimulating Hormone Deficiency
Fatigue, Attention deficit hyperactivity disorder ORPHA:90674
Immunodeficiency 70
Chronic fatigue OMIM:618969
Systemic Capillary Leak Syndrome
Fatigue, Constitutional symptom, Myalgia, Abdominal pain ORPHA:188
Mixed Connective Tissue Disease
Fatigue, Seizure, Chest pain, Arthralgia, Myalgia ORPHA:809
Pituitary Apoplexy
Fatigue, Confusion, Trigeminal neuralgia ORPHA:95613
Corticosteroid-Binding Globulin Deficiency
Fatigue, Asthenia OMIM:611489
Erythrocytosis, Familial, 1
Fatigue OMIM:133100
Postorgasmic Illness Syndrome
Fatigue ORPHA:279947
Deafness-Lymphedema-Leukemia Syndrome
Fatigue ORPHA:3226
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
3-Hydroxy-3-Methylglutaric Aciduria
Fatigue, Ataxia, Anorexia, Seizure, Myoclonus ORPHA:20
X-Linked Agammaglobulinemia
Fatigue ORPHA:47
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Fatigue OMIM:241150
Late-Onset Isolated Acth Deficiency
Fatigue, Anorexia, Abdominal pain, Seizure, Arthralgia ORPHA:199299
Proximal Spinal Muscular Atrophy
Fatigue, Inability to walk, Difficulty walking, Dysphagia ORPHA:70
Post-Traumatic Pituitary Deficiency
Fatigue ORPHA:95619
Pulmonary Hypertension, Primary, 5
Fatigue OMIM:265400
Neuroleptic Malignant Syndrome
Fatigue, Rigors, Urinary incontinence, Agitation, Dysphagia, Delirium ORPHA:94093
Igg4-Related Retroperitoneal Fibrosis
Fatigue, Low back pain, Anorexia, Abdominal pain, Flank pain, Elevated circulating creatinine con... ORPHA:49041
Glycogen Storage Disease Due To Acid Maltase Deficiency
Fatigue, Exercise intolerance, Bowel incontinence, Inability to walk, Chronic pain, Dysphagia, Di... ORPHA:365
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Hemorrhagic Fever-Renal Syndrome
Back pain, Fatigue, Confusion, Abdominal pain, Elevated circulating creatinine concentration, Agi... ORPHA:340
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Drug-Induced Autoimmune Hemolytic Anemia
Fatigue ORPHA:90037
Autosomal Dominant Hypophosphatemic Rickets
Fatigue, Bone pain ORPHA:89937
Gamma-Heavy Chain Disease
Fatigue, Dysphagia ORPHA:100026
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Fatigue, Urinary incontinence, Inability to walk, Seizure, Tip-toe gait, Gait disturbance, Diffic... ORPHA:466768
Fabry Disease
Fatigue, Anorexia, Abdominal pain, Seizure, Arthralgia, Myalgia, Cognitive impairment ORPHA:324
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Infantile spasms, Aggressive behavior, Gait ataxia, Seizure, Gliosis, Myoclonus OMIM:618321
Loeffler Endocarditis
Fatigue, Chest pain ORPHA:75566
Rheumatoid Arthritis
Fatigue, Arthralgia OMIM:180300
Avian Influenza
Fatigue, Chest pain, Myalgia, Abdominal pain ORPHA:454836
Acute Radiation Syndrome
Fatigue, Seizure ORPHA:454831
Shigellosis
Fatigue, Anorexia, Abdominal pain, Asthenia, Abdominal cramps, Febrile seizure (within the age ra... ORPHA:810
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Fatigue ORPHA:257
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Atrial Septal Defect, Sinus Venosus Type
Fatigue, Exercise intolerance ORPHA:99105
Glucocorticoid Resistance, Generalized
Fatigue OMIM:615962
Idiopathic Pulmonary Hemosiderosis
Fatigue ORPHA:99931
Lymphangioleiomyomatosis
Fatigue, Abdominal pain, Seizure, Chest pain, Cognitive impairment ORPHA:538
Cyclic Neutropenia
Fatigue, Bone pain, Abdominal pain ORPHA:2686
Acute Adrenal Insufficiency
Fatigue, Salt craving, Anorexia, Abdominal pain, Seizure, Arthralgia ORPHA:95409
Cardiac-Valvular Ehlers-Danlos Syndrome
Fatigue, Seizure ORPHA:230851
Autoimmune Hemolytic Anemia, Warm Type
Fatigue, Arthralgia ORPHA:90033
Hennekam-Beemer Syndrome
Fatigue, Seizure, Abdominal pain ORPHA:2135
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Fatigue, Chills ORPHA:86884
Exercise-Induced Malignant Hyperthermia
Fatigue, Ataxia, Confusion, Seizure, Delirium ORPHA:466650
Malignant Atrophic Papulosis
Fatigue, Seizure, Chest pain, Abdominal pain ORPHA:679
Mitochondrial Complex I Deficiency, Nuclear Type 2
Seizure, Falls, Gliosis, Difficulty walking OMIM:618222
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Fatigue, Bone pain ORPHA:324964
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Symptomatic Form Of Hfe-Related Hemochromatosis
Fatigue, Arthralgia, Abdominal pain ORPHA:465508
Immunodeficiency 97 With Autoinflammation
Fatigue, Abdominal pain OMIM:619802
Dopamine Beta-Hydroxylase Deficiency
Fatigue, Chest pain, Elevated circulating creatinine concentration ORPHA:230
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Ataxia, Astrocytosis, Dementia, Gliosis, Myoclonus, Status epilepti... OMIM:203700
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Combined Oxidative Phosphorylation Deficiency 33
Fatigue, Exercise intolerance OMIM:617713
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Solitary Fibrous Tumor
Fatigue, Low back pain, Night sweats ORPHA:2126
Peripartum Cardiomyopathy
Fatigue, Chest pain, Abdominal pain ORPHA:563
Vexas Syndrome
Fatigue, Night sweats, Arthralgia OMIM:301054
Inhalational Botulism
Fatigue ORPHA:254504
Diets-Jongmans Syndrome
Seizure, Gliosis, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618846
Refractory Anemia With Excess Blasts
Fatigue, Bone pain ORPHA:86839
Erythrocytosis, Familial, 2
Fatigue OMIM:263400
Sporadic Pheochromocytoma/Secreting Paraganglioma
Fatigue, Chest pain, Episodic abdominal pain ORPHA:276621
Listeriosis
Back pain, Fatigue, Ataxia, Abdominal pain, Seizure, Arthralgia, Myalgia, Myoclonus, Chills ORPHA:533
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Chronic fatigue, Anorexia, Episodic abdominal pain ORPHA:361
Acth-Independent Macronodular Adrenal Hyperplasia 2
Fatigue OMIM:615954
Juvenile Dermatomyositis
Fatigue, Abdominal pain, Arthralgia, Myalgia, Dysphagia ORPHA:93672
Macs Syndrome
Fatigue OMIM:613075
Steinert Myotonic Dystrophy
Fatigue, Short attention span, Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk,... ORPHA:273
Myasthenic Syndrome, Congenital, 21, Presynaptic
Exercise intolerance, Fatigue, Difficulty walking OMIM:617239
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Fatigue OMIM:619234
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Erdheim-Chester Disease
Fatigue, Ataxia, Abdominal pain, Bone pain, Polydipsia ORPHA:35687
Non-Functioning Pituitary Adenoma
Fatigue, Seizure ORPHA:91349
47,Xyy Syndrome
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Attention deficit hyperactivity d... ORPHA:8
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Acute Panmyelosis With Myelofibrosis
Fatigue, Low back pain ORPHA:86843
Bone Marrow Failure Syndrome 6
Myalgia, Chronic fatigue OMIM:618849
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Fatigue, Exercise intolerance, Myalgia ORPHA:79240
Toxic Epidermal Necrolysis
Fatigue, Sudden cardiac death, Abdominal pain, Dysphagia, Polydipsia ORPHA:537
Systemic Mastocytosis With Associated Hematologic Neoplasm
Fatigue, Abdominal pain, Bone pain, Arthralgia, Myalgia ORPHA:98849
Coccidioidomycosis
Fatigue, Seizure, Chest pain, Myalgia, Cognitive impairment ORPHA:228123
Al Amyloidosis
Fatigue, Dysphagia ORPHA:85443
Generalized Pustular Psoriasis
Fatigue, Pain, Arthralgia ORPHA:247353
Congenital Disorder Of Glycosylation, Type It
Fatigue, Exercise intolerance, Sudden cardiac death OMIM:614921
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fatigue, Exercise intolerance, Myalgia ORPHA:264580
Thyroid Hypoplasia
Fatigue ORPHA:95720
Primary Hepatic Neuroendocrine Carcinoma
Night sweats, Chronic fatigue, Anorexia, Episodic abdominal pain ORPHA:100085
Q Fever
Fatigue, Night sweats, Myalgia, Anorexia ORPHA:781
Functioning Gonadotropic Adenoma
Fatigue ORPHA:91348
Chronic Myeloid Leukemia
Fatigue ORPHA:521
Carney Triad
Fatigue, Anorexia, Abdominal pain ORPHA:139411
Klatskin Tumor
Fatigue, Abdominal pain ORPHA:99978
Addison Disease
Fatigue, Salt craving, Anorexia, Abdominal pain, Seizure, Arthralgia ORPHA:85138
Congenital Dyserythropoietic Anemia Type Iii
Fatigue ORPHA:98870
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Immunodeficiency 58
Fatigue, Dysphagia OMIM:618131
Primary Sjögren Syndrome
Fatigue, Chronic pain, Seizure, Dementia, Arthralgia, Myalgia, Cognitive impairment ORPHA:289390
Plague
Fatigue, Anorexia, Abdominal pain, Unsteady gait, Arthralgia, Chest pain, Chills, Delirium ORPHA:707
Stevens-Johnson Syndrome
Fatigue, Abdominal pain, Sudden cardiac death, Dysphagia ORPHA:36426
Cystic Echinococcosis
Fatigue, Epigastric pain ORPHA:400
African Trypanosomiasis
Fatigue, Rigors, Urinary incontinence, Akinesia, Aggressive behavior, Choreoathetosis, Seizure, A... ORPHA:3385
Polycythemia Vera
Fatigue, Arthralgia, Abdominal pain ORPHA:729
Hellp Syndrome
Back pain, Shoulder pain, Fatigue, Abdominal pain, Epigastric pain ORPHA:244242
Prolactinoma
Fatigue, Seizure ORPHA:2965
Isolated Right Ventricular Hypoplasia
Fatigue ORPHA:439
Congenital Gerbode Defect
Fatigue, Chest pain ORPHA:99095
Poems Syndrome
Fatigue, Pain ORPHA:2905
Hermansky-Pudlak Syndrome
Fatigue, Anorexia, Abdominal pain ORPHA:79430
Hereditary Pheochromocytoma-Paraganglioma
Fatigue, Chest pain, Episodic abdominal pain ORPHA:29072
Gastrointestinal Stromal Tumor
Fatigue, Dysphagia ORPHA:44890
Nocardiosis
Fatigue, Anorexia, Ocular pain, Night sweats, Seizure, Chest pain, Chills ORPHA:31204
Granulomatosis With Polyangiitis
Fatigue, Gangrene, Asthenia, Myalgia OMIM:608710
Ebstein Malformation Of The Tricuspid Valve
Fatigue, Chest pain, Sudden cardiac death ORPHA:1880
Autoimmune Hepatitis
Arthralgia, Chronic fatigue, Abdominal pain ORPHA:2137
Hyperparathyroidism-Jaw Tumor Syndrome
Fatigue, Bone pain, Episodic abdominal pain, Dysphagia, Polydipsia, Mandibular pain ORPHA:99880
Gaucher Disease
Fatigue, Ataxia, Bilateral tonic-clonic seizure, Abdominal pain, Bone pain, Arthralgia, Dysphagia... ORPHA:355
Parathyroid Carcinoma
Fatigue, Bone pain, Episodic abdominal pain, Dysphagia, Polydipsia, Mandibular pain ORPHA:143
Autoimmune Pulmonary Alveolar Proteinosis
Fatigue, Chest pain ORPHA:747
Multiple Myeloma
Fatigue, Bone pain, Elevated circulating creatinine concentration ORPHA:29073
Lymphoid Interstitial Pneumonia
Fatigue ORPHA:79128
Gallbladder Neuroendocrine Tumor
Chronic fatigue, Anorexia, Episodic abdominal pain ORPHA:100086
Resistance To Thyrotropin-Releasing Hormone Syndrome
Fatigue ORPHA:99832
Castleman Disease
Fatigue, Flank pain, Constitutional symptom, Abdominal pain ORPHA:160
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Fatigue ORPHA:300298
Familial Pancreatic Carcinoma
Back pain, Chronic fatigue, Anorexia, Abdominal pain ORPHA:1333
Granulomatosis With Polyangiitis
Fatigue, Abdominal pain, Seizure, Chest pain, Arthralgia, Myalgia, Gangrene ORPHA:900
Chikungunya
Fatigue, Shoulder pain, Seizure, Arthralgia, Myalgia, Chills, Knee pain ORPHA:324625
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Fatigue OMIM:617994
Overhydrated Hereditary Stomatocytosis
Fatigue OMIM:185000
Renal Nutcracker Syndrome
Fatigue, Flank pain, Abdominal pain ORPHA:71273
Hypocalciuric Hypercalcemia, Familial, Type Iii
Fatigue, Bone pain OMIM:600740
Arterial Tortuosity Syndrome
Fatigue ORPHA:3342
Tubulointerstitial Nephritis And Uveitis Syndrome
Fatigue, Anorexia, Abdominal pain, Flank pain, Ocular pain, Elevated circulating creatinine conce... ORPHA:91500
Hereditary Xanthinuria
Flank pain, Chronic fatigue ORPHA:3467
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Fatigue, Generalized non-motor (absence) seizure ORPHA:293978
Kikuchi-Fujimoto Disease
Fatigue, Ataxia, Anorexia, Night sweats, Arthralgia, Myalgia, Chills ORPHA:50918
Acute Transverse Myelitis
Back pain, Fatigue, Gait disturbance, Urinary incontinence ORPHA:139417