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Gene: Hexa MGI:96073

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
hexosaminidase A
Synonyms:
Hex-1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tay-Sachs Disease
Seizure, Blindness OMIM:272800

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus ORPHA:22
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Dravet Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Cer... OMIM:607208
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:615006
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... OMIM:605021
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Bilateral tonic-clonic seizure, Ataxia OMIM:617709
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... OMIM:619970
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... OMIM:616346
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls,... OMIM:616230
Yoon-Bellen Neurodevelopmental Syndrome
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I... OMIM:619701
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonic seizur... OMIM:617831
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Cerebral visual impairment, Visual loss, Choreoathetosis, Status ... OMIM:609056
Juvenile Huntington Disease
Broad-based gait, Ataxia, Chorea, Gait ataxia, Bradykinesia, Seizure, Progressive cerebellar atax... ORPHA:248111
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonus, Diffi... OMIM:614018
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Focal... OMIM:617904
Huntington Disease-Like 2
Chorea, Gait disturbance, Weight loss ORPHA:98934
Epilepsy, Progressive Myoclonic 7
Bilateral tonic-clonic seizure, Myoclonus, Ataxia, Myoclonic seizure OMIM:616187
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... OMIM:618587
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Myoclonic seizure, Seizure, Myoclonus OMIM:162350
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (... OMIM:607682
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, Unsteady gait, Bilateral tonic-clonic seizure, Truncal ataxia OMIM:608636
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking OMIM:619191
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... OMIM:617389
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Episo... OMIM:618924
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Atypical absence sei... OMIM:617113
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... OMIM:616540
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myopia, Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizur... OMIM:617810
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonus, Status epilepticus withou... OMIM:204300
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Unsteady gait, Myocloni... OMIM:616409
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Mitochondrial Complex I Deficiency, Nuclear Type 12
Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizure, Myoclonus, Gait ... OMIM:301020
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Falls, Myoclonus, Atypical absence seizure, ... ORPHA:2382
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Abnormality of vision, Progressive ce... ORPHA:263516
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Small for gestat... OMIM:245570
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Dysmetria, Gait ataxia, Gait di... OMIM:618090
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Spinocerebellar Ataxia, Autosomal Recessive 12
Bilateral tonic-clonic seizure, Limb ataxia, Ataxia, Gait ataxia OMIM:614322
Spinocerebellar Ataxia 48
Ataxia, Bilateral tonic-clonic seizure, Cachexia, Chorea, Dysmetria, Gait ataxia OMIM:618093
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Cerebral visual impairment, Inabi... OMIM:618497
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Unsteady gait, Seizure OMIM:620317
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Gait ataxia, Weight loss, Seizure, Status epilepticus, Failure to thrive OMIM:612075
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure, Diplopia, Choreoathetosis, Paresthesia, Episodic ataxia ORPHA:53583
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Focal-onset seizure, Inability to walk, Seizure, Focal impaired a... ORPHA:330050
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Generaliz... ORPHA:36387
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus, Difficulty walking OMIM:613608
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ... OMIM:617350
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Cerebral visual impairment, Unste... OMIM:617711
Alpers-Huttenlocher Syndrome
Blindness, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Choreoathetosis, Abnormal... ORPHA:726
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Chorea, Choreoathe... OMIM:616981
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Inability to ... OMIM:618917
Guanidinoacetate Methyltransferase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Chorea, Seizure, Athetosis, Focal impaired awareness seiz... ORPHA:382
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Gait ataxia, Seizure, Myoclonus OMIM:615362
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal tonic seizure, Myoclonic seizure, At... OMIM:617106
Ceroid Lipofuscinosis, Neuronal, 3
Blindness, Bilateral tonic-clonic seizure, Reduced visual acuity, Seizure, Myoclonus, Progressive... OMIM:204200
Landau-Kleffner Syndrome
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Generalize... ORPHA:98818
Developmental And Epileptic Encephalopathy 47
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Cerebral visual impairment, Focal-onset se... OMIM:617166
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... OMIM:616139
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus OMIM:254800
Pulmonary Blastoma
Weight loss ORPHA:64741
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Cachexia, Weight loss, Seizure, Slender build OMIM:613662
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Bilateral tonic-clonic seizure OMIM:104290
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Seizure, Hypogonadism, Myoclonus, Visual impairment, Color vision defect ORPHA:97229
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se... ORPHA:725
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Bilateral tonic-clonic seizure, Ataxia OMIM:618425
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... OMIM:618012
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Huntington Disease
Abnormal libido, Inability to walk, Chorea, Weight loss, Bradykinesia, Seizure, Gait disturbance,... ORPHA:399
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (abs... OMIM:619157
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Bilateral tonic-clonic seizure, Myoclonus, Ataxia OMIM:619065
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Unsteady gait, Dysmetria, Gait ataxia, Falls OMIM:203740
Developmental And Epileptic Encephalopathy 66
Myopia, Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with foc... OMIM:618067
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Cerebral visual impairment, Cryptorchidism, Cho... ORPHA:485350
Infantile Cerebellar-Retinal Degeneration
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Athetosis, Decreased body weight, Fa... OMIM:614559
Moynahan Syndrome
Seizure, Hypogonadism, Cachexia ORPHA:2574
Intellectual Developmental Disorder, X-Linked 1
Hypermetropia, Seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:309530
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... ORPHA:98820
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Bradykinesia, Generalized myoclonic seizure, Myoclonic ab... OMIM:617836
Tuberculosis
Weight loss ORPHA:3389
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Bilateral tonic-clonic seizure, Gait disturbance ORPHA:100988
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Alexander Disease Type I
Ataxia, Cachexia, Seizure, Palatal tremor, Failure to thrive ORPHA:363717
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Small for gestational age, Vaginal neoplasm, Hypospadias, Decrea... ORPHA:1916
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Focal clonic seizure, Episodic ataxia, Neonatal se... ORPHA:140927
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Impaired tandem gait, Bradykinesia, Seizure, Gait disturbance, Falls OMIM:300423
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Huntington Disease-Like 2
Bradykinesia, Chorea, Weight loss OMIM:606438
Classic Pantothenate Kinase-Associated Neurodegeneration
Blindness, Inability to walk, Weight loss, Seizure, Tip-toe gait, Gait disturbance ORPHA:216866
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Myopia, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Obesity, Seizure, D... ORPHA:464282
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Isolated Succinate-Coq Reductase Deficiency
Blindness, Ataxia, Reduced visual acuity, Weight loss, Seizure, Generalized myoclonic seizure, Lo... ORPHA:3208
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Myopia, Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Diff... ORPHA:529665
Late Infantile Neuronal Ceroid Lipofuscinosis
Myopia, Blindness, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Typical absence s... ORPHA:168491
Cln3 Disease
Blindness, Bilateral tonic-clonic seizure, Ataxia, Amblyopia, Focal-onset seizure, Myoclonic seiz... ORPHA:228346
Flynn-Aird Syndrome
Myopia, Ataxia, Cachexia, Impaired pain sensation, Seizure, Visual impairment ORPHA:2047
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Seizure OMIM:226750
Huntington Disease-Like 1
Chorea, Dysmetria, Gait ataxia, Bradykinesia, Seizure, Weight loss, Gait disturbance ORPHA:157941
Isaacs Syndrome
Weight loss, Distal sensory impairment ORPHA:84142
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Seizure, Gait disturbance, Visua... ORPHA:702
X-Linked Intellectual Disability, Hedera Type
Bilateral tonic-clonic seizure, Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait distur... ORPHA:93952
Central Diabetes Insipidus
Seizure, Failure to thrive, Lethargy, Weight loss ORPHA:178029
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Seizure, Cachexia, Ataxia, Visual impairment ORPHA:1933
Idiopathic Achalasia
Weight loss ORPHA:930
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... ORPHA:352582
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Cryptorchidism, Chorea, Seizure, Focal impaired awareness seizure... OMIM:613970
Fatal Familial Insomnia
Diplopia, Ataxia, Myoclonus, Weight loss OMIM:600072
Cerebral Creatine Deficiency Syndrome 2
Bilateral tonic-clonic seizure, Ataxia, Seizure, Myoclonus, Febrile seizure (within the age range... OMIM:612736
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Diplopia, Generalized non-motor (abs... OMIM:618170
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic status epilepticus,... OMIM:619913
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Dysdiadochokinesis, Myoclonus,... OMIM:614487
Attrv30M Amyloidosis
Impotence, Weight loss, Vitreous floaters ORPHA:85447
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Diplopia, Focal motor seizure, Dysmetria, Gait ataxia, Transient ... OMIM:602481
Diencephalic Syndrome
Long penis, Cachexia, Decreased body weight ORPHA:1672
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bilateral tonic-clonic seizure, Akinesia, Focal motor seizure, Bradykinesia, Seizure, Freezing of... OMIM:619911
Gerstmann-Straussler Disease
Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, Truncal ataxia OMIM:137440
Holocarboxylase Synthetase Deficiency
Seizure, Ataxia, Lethargy, Weight loss ORPHA:79242
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss ORPHA:30925
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Oculopharyngodistal Myopathy
Loss of ambulation, Difficulty walking, Weight loss ORPHA:98897
Christianson Syndrome
Generalized-onset seizure, Truncal ataxia, Cachexia, Gait ataxia ORPHA:85278
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Chronic Hiccup
Weight loss ORPHA:396
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Visual loss, Gen... OMIM:254780
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Cachexia, Lethargy, Febrile seizure (within the age range... ORPHA:42
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Chorea, Bradykinesia, Myoclonus, Nocturnal seizures OMIM:619725
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal-on... ORPHA:501
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Fatty Acid Hydroxylase-Associated Neurodegeneration
Bilateral tonic-clonic seizure, Focal-onset seizure, Color vision test abnormality, Slow decrease... ORPHA:329308
Lynch Syndrome
Amaurosis fugax, Visual field defect, Weight loss, Seizure, Ovarian neoplasm, Gait disturbance, P... ORPHA:144
X-Linked Creatine Transporter Deficiency
Ataxia, Cachexia, Chorea, Seizure, Athetosis ORPHA:52503
Familial Colorectal Cancer Type X
Amaurosis fugax, Visual field defect, Weight loss, Seizure, Ovarian neoplasm, Gait disturbance, P... ORPHA:440437
Renpenning Syndrome
Hypospadias, Cachexia, Seizure, High hypermetropia, Decreased testicular size ORPHA:3242
Erythrokeratodermia Variabilis
Abnormal testis morphology, Weight loss ORPHA:317
Perry Syndrome
Bradykinesia, Short stepped shuffling gait, Akinesia, Weight loss OMIM:168605
Hypercalcemia, Infantile, 1
Lethargy, Failure to thrive, Weight loss OMIM:143880
Peritoneal Cystic Mesothelioma
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss ORPHA:168816
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration... OMIM:607459
Mulibrey Nanism
Cachexia ORPHA:2576
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Inability to walk, Seizure, Failure to thrive in infancy, Cachexia OMIM:616801
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Rett Syndrome
Cachexia, Gait apraxia, Gait ataxia, Seizure, Truncal ataxia OMIM:312750
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Gm1 Gangliosidosis
Blindness, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Unsteady gait, Weight l... ORPHA:354
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Myoclonus, Weight loss OMIM:256700
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Ataxia, Cachexia, Inability to walk, Chorea, Tip-toe gait, Difficu... ORPHA:300605
Chromosome Xp11.3 Deletion Syndrome
Moderate myopia, Constriction of peripheral visual field, Bilateral tonic-clonic seizure, Blindne... OMIM:300578
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cachexia, Weight loss, Paresthesia ORPHA:298
Takayasu Arteritis
Seizure, Amaurosis fugax, Weight loss ORPHA:3287
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Cerebral visual impairment ORPHA:1389
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Peripheral Primitive Neuroectodermal Tumor
Somatic sensory dysfunction, Metrorrhagia, Precocious puberty, Weight loss, Ovarian neoplasm, Sei... ORPHA:370348
Tsh-Secreting Pituitary Adenoma
Bitemporal hemianopia, Abnormal visual field test, Male hypogonadism, Hypogonadotropic hypogonadi... ORPHA:91347
Wilson Disease
Abnormality of the menstrual cycle, Increased body weight, Weight loss, Difficulty walking, Failu... ORPHA:905
Mcdonough Syndrome
Cryptorchidism, Cachexia ORPHA:2471
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Solitary Fibrous Tumor
Vaginal neoplasm, Diplopia, Weight loss, Prostate cancer, Abnormal prostate morphology, Uterine n... ORPHA:2126
Giant Cell Arteritis
Ataxia, Visual loss, Diplopia, Visual field defect, Weight loss, Paresthesia, Visual impairment, ... ORPHA:397
Liposarcoma
Paresthesia, Weight loss ORPHA:69078
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Hypoplasia of penis, Cachexia, Obesity, Seizure, Hypogonadism, Decreased testic... ORPHA:85293
Infantile Krabbe Disease
Blindness, Cachexia, Visual loss, Photophobia, Seizure, Myoclonus, Hyperesthesia, Generalized myo... ORPHA:206436
Hereditary Late-Onset Parkinson Disease
Akinesia, Diplopia, Weight loss, Bradykinesia, Shuffling gait ORPHA:411602
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Ovarian neoplasm, Cachexia, Weight loss ORPHA:83469
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, Ch... ORPHA:101330
Celiac Disease, Susceptibility To, 1
Ataxia, Weight loss, Seizure, Infertility, Failure to thrive OMIM:212750
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Symptomatic Form Of Hfe-Related Hemochromatosis
Hypogonadotropic hypogonadism, Weight loss, Infertility, Erectile dysfunction, Lethargy, Testicul... ORPHA:465508
Follicular Lymphoma
Weight loss ORPHA:545
Pleural Mesothelioma
Weight loss ORPHA:50251
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Malignant Atrophic Papulosis
Pain insensitivity, Diplopia, Weight loss, Seizure, Amaurosis fugax ORPHA:679
Neuropathy, Congenital Hypomyelinating, 3
Seizure, Cachexia, Visual impairment OMIM:618186
Familial Thrombocytosis
Seizure, Weight loss, Paresthesia, Visual field defect ORPHA:71493
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Eosinophilic Fasciitis
Paresthesia, Weight loss ORPHA:3165
Mast Cell Sarcoma
Weight loss ORPHA:66661
Focal Myositis
Weight loss ORPHA:48918
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Weight loss ORPHA:2221
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Pfapa Syndrome
Weight loss ORPHA:42642
Familial Glucocorticoid Deficiency
Precocious puberty, Cryptorchidism, Testicular adrenal rest tumor, Hypoglycemic seizures, Weight ... ORPHA:361
Perry Syndrome
Weight loss ORPHA:178509
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Seizure, Cachexia, Hyperesthesia ORPHA:371364
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Ring Chromosome 10 Syndrome
Seizure, Cachexia ORPHA:1438
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec... ORPHA:813
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Whipple Disease
Ataxia, Cachexia, Seizure, Myoclonus, Erectile dysfunction ORPHA:3452
Deafness-Lymphedema-Leukemia Syndrome
Visual loss, Weight loss ORPHA:3226
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... ORPHA:456312
Renal Nutcracker Syndrome
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Weight loss, Infertility, Varicocele ORPHA:71273
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia ORPHA:93941
8P23.1 Microdeletion Syndrome
Hypospadias, Cryptorchidism, Obesity, Weight loss, Seizure ORPHA:251071
Beta-Ketothiolase Deficiency
Seizure, Ataxia, Weight loss ORPHA:134
Rhabdoid Tumor
Weight loss ORPHA:69077
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Weight loss, Seizure, Myoclonus, Lethargy ORPHA:20
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Hypospadias, Cachexia, Cryptorchidism, Failure to thrive ORPHA:217346
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Isolated Permanent Neonatal Diabetes Mellitus
Bilateral tonic-clonic seizure, Ataxia, Weight loss, Generalized myoclonic seizure, Failure to th... ORPHA:99885
Glossopharyngeal Neuralgia
Dysesthesia, Seizure, Weight loss ORPHA:221098
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Cronkhite-Canada Syndrome
Seizure, Cachexia ORPHA:2930
Immunodeficiency 27A
Weight loss OMIM:209950
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Polymyositis
Gait disturbance, Weight loss ORPHA:732
Late-Onset Isolated Acth Deficiency
Premature ovarian insufficiency, Weight loss, Seizure, Lethargy, Failure to thrive ORPHA:199299
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Ataxia, Visual impairment, Weight loss ORPHA:35687
Thymic Carcinoma
Weight loss ORPHA:99868
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Hypoesthesia, Diplopia, Weight loss, Distal sensory impairment, Slender build OMIM:603041
Osteosarcoma
Weight loss ORPHA:668
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Precocious pubert... ORPHA:90794
Cap Polyposis
Weight loss ORPHA:160148
Bullous Pemphigoid
Weight loss ORPHA:703
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... ORPHA:85450
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Diplopia, Ataxia, Cachexia ORPHA:220295
Poems Syndrome
Weight loss, Hypogonadism, Paresthesia, Erectile dysfunction, Hyperesthesia ORPHA:2905
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Weight loss ORPHA:54251
Behçet Disease
Blindness, Ataxia, Orchitis, Weight loss, Photophobia, Seizure, Gait disturbance, Paresthesia ORPHA:117
Chronic Beryllium Disease
Weight loss ORPHA:133
Kaposi Sarcoma
Weight loss ORPHA:33276
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Myopia, Failure to thrive, Vaginal neoplasm, Weight loss, Abnormality of the female genitalia, Ut... ORPHA:1018
Leishmaniasis
Weight loss ORPHA:507
Aicardi-Goutieres Syndrome 9
Seizure, Micropenis, Failure to thrive, Weight loss OMIM:619487
Xfe Progeroid Syndrome
Blindness, Premature ovarian insufficiency, Cachexia, Failure to thrive, Visual impairment OMIM:610965
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Acrodermatitis Enteropathica
Photophobia, Failure to thrive, Visual impairment, Weight loss ORPHA:37
Congenital Tufting Enteropathy
Photophobia, Failure to thrive, Weight loss ORPHA:92050
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Hermansky-Pudlak Syndrome
Myopia, Menometrorrhagia, Amblyopia, Weight loss, Photophobia, Visual impairment ORPHA:79430
Polyarteritis Nodosa
Weight loss ORPHA:767
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Tetrasomy 12P
Cachexia ORPHA:884
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss ORPHA:171876
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Eosinophilic Granulomatosis With Polyangiitis
Gait disturbance, Weight loss ORPHA:183
African Trypanosomiasis
Somatic sensory dysfunction, Akinesia, Abnormality of the menstrual cycle, Diplopia, Impaired pro... ORPHA:3385
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Pemphigus Vulgaris
Weight loss ORPHA:704
Floating-Harbor Syndrome
Broad-based gait, Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Hyp... ORPHA:2044
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Nephroblastoma
Weight loss ORPHA:654
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Yao Syndrome
Weight loss OMIM:617321
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Simple Cryoglobulinemia
Seizure, Weight loss, Paresthesia, Spontaneous pain sensation ORPHA:91139
Alveolar Echinococcosis
Seizure, Ataxia, Weight loss ORPHA:284
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Microsporidiosis
Cachexia, Visual loss, Abnormal endometrium morphology, Weight loss, Seizure, Abnormal fallopian ... ORPHA:2552
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Adrenocortical Carcinoma
Abnormality of reproductive system physiology, Increased body weight, Weight loss ORPHA:1501
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Cystic Echinococcosis
Ovarian cyst, Abnormality of the testis size, Weight loss ORPHA:400
Acute Promyelocytic Leukemia
Metrorrhagia, Weight loss ORPHA:520
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Loeffler Endocarditis
Weight loss ORPHA:75566
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Oromandibular Dystonia
Weight loss ORPHA:93958
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Riddle Syndrome
Ataxia, Gait disturbance, Weight loss ORPHA:420741
Igg4-Related Aortitis
Weight loss ORPHA:449400
Rheumatoid Arthritis
Weight loss OMIM:180300
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Paresthesia, Cachexia OMIM:175500
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Cryptorchidism, Weight loss, Abnormality of vision, A... ORPHA:84
Thymoma
Prostate neoplasm, Weight loss ORPHA:99867
Igg4-Related Retroperitoneal Fibrosis
Weight loss, Hydrocele testis, Impotence, Retrograde ejaculation, Varicocele ORPHA:49041
Ménétrier Disease
Weight loss ORPHA:2494
Aredyld Syndrome
Cachexia ORPHA:1133
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Wolman Disease
Cachexia ORPHA:75233
Stevens-Johnson Syndrome
Photophobia, Dyspareunia, Visual impairment, Weight loss ORPHA:36426
Felty Syndrome
Weight loss ORPHA:47612
Primary Hepatic Neuroendocrine Carcinoma
Reduced visual acuity, Weight loss ORPHA:100085
Cockayne Syndrome
Somatic sensory dysfunction, Ataxia, Cachexia, Inability to walk, Cryptorchidism, Hypermetropia, ... ORPHA:191
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Toxic Epidermal Necrolysis
Photophobia, Visual loss, Abnormal vagina morphology, Weight loss ORPHA:537
Short Syndrome
Weight loss ORPHA:3163
Oculopharyngodistal Myopathy 1
Ataxia, Difficulty walking, Weight loss OMIM:164310
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Refractory Celiac Disease
Weight loss ORPHA:398063
Acute Adrenal Insufficiency
Seizure, Failure to thrive, Decreased female libido, Weight loss ORPHA:95409
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Pneumocystosis
Weight loss ORPHA:723
Addison Disease
Primary testicular failure, Premature ovarian insufficiency, Decreased female libido, Weight loss... ORPHA:85138
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Increased body weight,... ORPHA:2298
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Schwartz-Jampel Syndrome
Myopia, Cachexia, Gait disturbance, Decreased body weight, Testicular torsion, Decreased testicul... ORPHA:800
Mosaic Trisomy 9
Asplenia, Abnormal liver lobulation ORPHA:99776
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... OMIM:137920
Cystinosis, Nephropathic
Male infertility, Blindness, Failure to thrive in infancy, Reduced visual acuity, Weight loss, Ph... OMIM:219800
Choreoacanthocytosis
Impaired vibratory sensation, Bilateral tonic-clonic seizure, Chorea, Weight loss, Bradykinesia, ... ORPHA:2388
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Anemia, Congenital Dyserythropoietic, Type Iv
Micropenis, Hypospadias, Weight loss OMIM:613673
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Primary Myelofibrosis
Cachexia ORPHA:824
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Granulomatosis With Polyangiitis
Seizure, Prostatitis, Visual impairment, Weight loss ORPHA:900
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Cachexia, Limb ataxia, A... ORPHA:2072
Al Amyloidosis
Autonomic erectile dysfunction, Weight loss ORPHA:85443
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Malt Lymphoma
Visual impairment, Weight loss ORPHA:52417
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Pyomyositis
Testicular teratoma, Weight loss ORPHA:764
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Camurati-Engelmann Disease
Waddling gait, Ataxia, Cachexia, Hypogonadism, Slender build ORPHA:1328
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Budd-Chiari Syndrome
Weight loss ORPHA:131
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Bannayan-Riley-Ruvalcaba Syndrome
Seizure, Cachexia, Uterine neoplasm ORPHA:109
Klatskin Tumor
Weight loss ORPHA:99978
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Pancreatic Triacylglycerol Lipase Deficiency
Hemeralopia, Weight loss ORPHA:309031
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Von Hippel-Lindau Disease
Papillary cystadenoma of the epididymis, Visual loss, Epididymal cyst ORPHA:892
Mucolipidosis Type Ii
Inability to walk, Weight loss ORPHA:576
Von Hippel-Lindau Syndrome
Papillary cystadenoma of the epididymis, Epididymal cyst OMIM:193300
Brucellosis
Small for gestational age, Orchitis, Chorea, Epididymitis, Weight loss, Failure to thrive ORPHA:1304
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Hypermetropia, Epididymal cyst, Varicocele OMIM:136140
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Hereditary Pheochromocytoma-Paraganglioma
Weight loss ORPHA:29072
Pulmonary Alveolar Microlithiasis
Gonadal calcification, Testicular microlithiasis, Decreased fertility, Weight loss ORPHA:60025
Trisomy 18
Cryptorchidism, Abnormal morphology of female internal genitalia, Cachexia ORPHA:3380
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Polycythemia Vera
Weight loss ORPHA:729
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Familial Pancreatic Carcinoma
Ovarian carcinoma, Weight loss ORPHA:1333
Multiple Myeloma
Paresthesia, Weight loss ORPHA:29073
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Multiple Endocrine Neoplasia Type 1
Atypical absence status epilepticus, Weight loss, Impotence, Lethargy, Decreased male libido, Ame... ORPHA:652
Nocardiosis
Seizure, Scotoma, Weight loss ORPHA:31204
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Q Fever
Weight loss ORPHA:781
Aicardi-Goutieres Syndrome 7
Seizure, Weight loss OMIM:615846
Reactive Arthritis
Photophobia, Weight loss ORPHA:29207
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Parathyroid Carcinoma
Uterine leiomyoma, Testicular neoplasm, Weight loss ORPHA:143
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Weight loss, Shuffling gait, Hypoplastic male external genitalia, Severe fai... ORPHA:740
Caroli Disease
Weight loss ORPHA:53035
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Liver Disease, Severe Congenital
Elevated hepatic transaminase, Hepatomegaly, Biliary hyperplasia, Intrahepatic cholestasis, Jaund... OMIM:619991
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Castleman Disease
Weight loss ORPHA:160
Sarcoidosis
Hepatomegaly, Portal hypertension, Abnormal liver parenchyma morphology, Decreased liver function... ORPHA:797
Pancreatoblastoma
Weight loss ORPHA:677
Kikuchi-Fujimoto Disease
Ataxia, Weight loss ORPHA:50918
Norrie Disease
Blindness, Cachexia, Cryptorchidism, Seizure, Erectile dysfunction, Uterine rupture, Failure to t... ORPHA:649
Sarcoidosis, Susceptibility To, 1
Photophobia, Weight loss, Blurred vision OMIM:181000
Tropical Pancreatitis
Weight loss ORPHA:103918
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Anoperineal fistula, Weight loss OMIM:301074
Postinfectious Vasculitis
Orchitis, Weight loss ORPHA:48435
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Immunodeficiency 31C
Weight loss OMIM:614162
Marfan Syndrome
Myopia, Cachexia, Slender build, Visual impairment ORPHA:558
Juvenile Polyposis Of Infancy
Freckled genitalia, Cachexia ORPHA:79076
Cushing Syndrome Due To Ectopic Acth Secretion
Increased body weight, Secondary amenorrhea, Weight loss, Truncal obesity, Abdominal obesity, Pro... ORPHA:99889
Seckel Syndrome
Cachexia ORPHA:808
Rat-Bite Fever
Weight loss ORPHA:31205
Igg4-Related Dacryoadenitis And Sialadenitis
Blindness, Weight loss ORPHA:79078
Proteus Syndrome
Myopia, Cachexia, Testicular neoplasm, Enlarged polycystic ovaries, Long penis, Ovarian neoplasm,... ORPHA:744
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Stickler Syndrome
Myopia, Blindness, Cachexia, Slender build, Visual impairment ORPHA:828
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Ppoma
Weight loss ORPHA:97278
Chronic Graft Versus Host Disease
Photophobia, Abnormal vagina morphology, Phimosis, Weight loss ORPHA:99921
Somatostatinoma
Weight loss ORPHA:97283
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Grfoma
Weight loss ORPHA:97261
Vipoma
Weight loss ORPHA:97282
Igg4-Related Kidney Disease
Prostatitis, Weight loss ORPHA:449395
Glucagonoma
Weight loss ORPHA:97280
Tubulointerstitial Nephritis And Uveitis Syndrome
Photophobia, Visual impairment, Weight loss ORPHA:91500
Dermatomyositis
Weight loss ORPHA:221
Nijmegen Breakage Syndrome
Cachexia ORPHA:647
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Immunodeficiency 82 With Systemic Inflammation
Anoperineal fistula, Weight loss OMIM:619381
Pmm2-Cdg
Elevated hepatic transaminase, Hepatic fibrosis, Abnormal liver parenchyma morphology ORPHA:79318
Goodpasture Syndrome
Weight loss OMIM:233450
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565
Tay-Sachs Disease
Seizure, Blindness OMIM:272800

Histopathology

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

There is no histopathology data for Hexa

IMPC related publications

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

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Hexatm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Hexatm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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