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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Ataxia, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Dravet Syndrome
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... OMIM:607208
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Juvenile Huntington Disease
Dystonia, Chorea, Weight loss, Myoclonus, Bradykinesia, Seizure, Progressive cerebellar ataxia, A... ORPHA:248111
Episodic Ataxia, Type 9
Dystonia, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepti... OMIM:618924
Huntington Disease-Like 2
Dystonia, Chorea, Weight loss, Gait disturbance ORPHA:98934
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Small for gestational age, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seiz... OMIM:245570
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Weight loss, Seizure, Gait ataxia OMIM:612075
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Ata... OMIM:617831
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Attention deficit hyperactivity dis... OMIM:619191
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Paresthesia, Bilateral tonic-clonic seizure, Choreoathetosis, Episodic ataxia, Diplopia ORPHA:53583
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Bilateral tonic-clonic seizure, Torticollis, Chorea, Ataxia OMIM:618425
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Focal i... OMIM:618587
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Inability to walk, Bilateral tonic-clonic seizure OMIM:619639
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Failure to thrive, Myoclonus, Visual loss, Cereb... OMIM:609056
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Falls, Chin myoclonus, Generalized myoclonic seizure, Generalized... ORPHA:139426
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Falls, Hyperactivity, Atonic seizure, Focal-onset seiz... ORPHA:2382
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Seizure, Micropenis, Hypergonadotropic hypogonadism, Decreased te... OMIM:601217
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Generalized ... ORPHA:330050
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myopia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Dysmetria, Myocl... OMIM:617810
Alternating Hemiplegia Of Childhood 1
Dystonia, Bilateral tonic-clonic seizure, Choreoathetosis OMIM:104290
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Weight loss, Slender build, Seizure, Ataxia OMIM:613662
Continuous Spikes And Waves During Sleep
Dystonia, Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Foca... ORPHA:725
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Broad-based gait, Focal-ons... OMIM:619157
Developmental And Epileptic Encephalopathy 6B
Dystonia, Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Chore... OMIM:619317
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral... OMIM:618917
Spinocerebellar Ataxia 48
Dystonia, Cachexia, Bilateral tonic-clonic seizure, Dysmetria, Chorea, Ataxia, Gait ataxia OMIM:618093
Rare Non-Syndromic Intellectual Disability
Dystonia, Bilateral tonic-clonic seizure, Cerebral visual impairment, Seizure, Difficulty walking ORPHA:101685
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Abnormality of vision, Ataxia, Blindn... ORPHA:726
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:263516
Landau-Kleffner Syndrome
Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Bilateral tonic-clonic s... ORPHA:98818
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... ORPHA:101039
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Visually-induced seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:618873
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure,... ORPHA:306
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Failure to thrive in infancy, Bilateral tonic-clonic seizure, Myoclonus, Ataxia OMIM:619065
Huntington Disease-Like 2
Dystonia, Chorea, Weight loss, Bradykinesia OMIM:606438
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bilateral tonic-clonic seizure, Bradykinesia, Ataxia, Generalized myoclonic seizure, My... OMIM:617836
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensor... OMIM:615400
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Typical absence seizure, Bilateral tonic-clonic seizure, Chorea, Focal emotional seizur... ORPHA:178469
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... ORPHA:36387
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Difficulty walking, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Pulmonary Blastoma
Weight loss ORPHA:64741
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Bilateral tonic-clonic seizure, Chorea, Focal impaired awareness seizure, Se... ORPHA:382
Huntington Disease
Gait disturbance, Dystonia, Gait imbalance, Chorea, Decreased body mass index, Weight loss, Myocl... ORPHA:399
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Myoclonus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:254800
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Myopia, Bilateral tonic-clonic seizure, Seizure, Ataxia, Generalized myoclonic seizure,... ORPHA:464282
Riboflavin Transporter Deficiency
Cachexia, Myoclonus, Seizure, Ataxia, Hypogonadism, Color vision defect, Visual impairment ORPHA:97229
Cortical Malformations, Occipital
Visual loss, Bilateral tonic-clonic seizure OMIM:614115
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Focal tonic seizure, Myoclonus, Focal i... ORPHA:485350
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Small for gestational age, Abnormal reproductive system morph... ORPHA:1916
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Weight loss, Seizure, Inability to walk, Blindness, Generalized dystonia, Tip-t... ORPHA:216866
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:615369
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral ton... OMIM:616056
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... OMIM:300088
Foxg1 Syndrome
Dystonia, Bilateral tonic-clonic seizure, Choreoathetosis, Infantile spasms, Myoclonus, Inability... ORPHA:561854
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... OMIM:604403
Moynahan Syndrome
Seizure, Cachexia, Hypogonadism ORPHA:2574
Autosomal Dominant Spastic Paraplegia Type 6
Gait disturbance, Impaired vibratory sensation, Bilateral tonic-clonic seizure ORPHA:100988
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Autosomal Dominant Epilepsy With Auditory Features
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal autonomic seizure, Bilateral tonic-clon... ORPHA:101046
Late Infantile Neuronal Ceroid Lipofuscinosis
Myopia, Gait disturbance, Typical absence seizure, Bilateral tonic-clonic seizure, Focal tonic se... ORPHA:168491
Tuberculosis
Weight loss ORPHA:3389
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Paresthesia, Bilateral tonic-clonic seizure, Nocturnal seizures, Infantil... ORPHA:98820
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Gait disturbance, Bilateral tonic-clonic seizure, Falls, Bradykinesia, Impaired tandem gait, Seizure OMIM:300423
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:86909
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Bilateral Generalized Polymicrogyria
Dystonia, Typical absence seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal emotio... ORPHA:208447
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Myopia, Bilateral tonic-clonic seizure, Dysmetria, Visual impairment, Seizure, Status epilepticus... ORPHA:529665
Intellectual Developmental Disorder, X-Linked 1
Seizure, Hypermetropia, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypermetropia, Gait imbalance, Bilateral tonic-clonic seizure, Seizure, Gait ataxia ORPHA:488635
Severe Canavan Disease
Bilateral tonic-clonic seizure, Seizure, Inability to walk, Blindness, Lethargy ORPHA:314911
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Cerebral visual im... OMIM:619616
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Bilateral tonic-clonic seizure, Progressive visual loss, Focal impaired awareness seizure, Sponta... ORPHA:1947
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... OMIM:618357
Familial Infantile Myoclonic Epilepsy
Gait disturbance, Simple febrile seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Seizure... ORPHA:352582
Pelizaeus-Merzbacher Disease
Gait disturbance, Failure to thrive in infancy, Cachexia, Dystonia, Choreoathetosis, Seizure, Ata... ORPHA:702
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral t... OMIM:254770
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
X-Linked Intellectual Disability, Hedera Type
Gait disturbance, Bilateral tonic-clonic seizure, Dysmetria, Inability to walk, Atonic seizure, U... ORPHA:93952
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Focal impaired awareness seizure, Visual impairment, Bilateral tonic-clonic seizure ORPHA:208441
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic ataxia, Ataxia, Dysdiadoc... OMIM:614487
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Failure to thrive, Bilateral tonic-clonic seizure OMIM:616281
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Seizure, Hyperactivity, Ataxia, Status epilepticus, Generalized m... OMIM:271980
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hep... OMIM:603471
Flynn-Aird Syndrome
Myopia, Cachexia, Impaired pain sensation, Seizure, Ataxia, Visual impairment ORPHA:2047
Isaac Syndrome
Distal sensory impairment, Weight loss ORPHA:84142
Pontocerebellar Hypoplasia, Type 14
Dystonia, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal-onset seizure OMIM:619301
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Sarcosinemia
Ataxia, Congenital blindness, Bilateral tonic-clonic seizure ORPHA:3129
Central Diabetes Insipidus
Failure to thrive, Seizure, Weight loss, Lethargy ORPHA:178029
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:604352
Huntington Disease-Like 1
Gait disturbance, Dysmetria, Chorea, Weight loss, Bradykinesia, Seizure, Gait ataxia ORPHA:157941
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:616172
Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:98293
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:613863
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-cloni... ORPHA:79137
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Seizure, Ataxia, Cachexia, Visual impairment ORPHA:1933
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:616341
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Dystonia, Bilateral tonic-clonic seizure, Inability to walk, Cryptorchidism, Premature pubarche ORPHA:457205
Isolated Succinate-Coq Reductase Deficiency
Weight loss, Reduced visual acuity, Loss of ability to walk, Ataxia, Seizure, Generalized myoclon... ORPHA:3208
Idiopathic Achalasia
Weight loss ORPHA:930
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure, Chorea, Waddling gait, Truncal ataxia, Difficulty walking ORPHA:369840
Pontocerebellar Hypoplasia, Type 15
Dystonia, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal-onset seizure OMIM:619302
Hepatoportal Sclerosis
Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splenomegaly, Abnormal liver... ORPHA:64743
Fatal Familial Insomnia
Myoclonus, Ataxia, Diplopia, Weight loss OMIM:600072
Hereditary Central Diabetes Insipidus
Weight loss, Lethargy ORPHA:30925
Infantile Cerebellar-Retinal Degeneration
Athetosis, Bilateral tonic-clonic seizure, Failure to thrive, Ataxia, Focal-onset seizure, Decrea... OMIM:614559
Unilateral Hemispheric Polymicrogyria
Focal atonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure, Gene... ORPHA:101071
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... OMIM:608096
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:600669
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:613060
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:1941
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:604233
Pyridoxine-Dependent Epilepsy
Bilateral tonic-clonic seizure, Early onset absence seizures, Seizure, Status epilepticus, Atonic... ORPHA:3006
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:605021
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Christianson Syndrome
Dystonia, Cachexia, Generalized-onset seizure, Truncal ataxia, Gait ataxia ORPHA:85278
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Seizure precipitated by febrile infection, B... ORPHA:363549
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Cachexia, Chorea, Seizure, Ataxia, Hyperactivity ORPHA:52503
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Dysdiadochokinesis, Gener... ORPHA:313772
Diencephalic Syndrome
Cachexia, Decreased body weight, Long penis ORPHA:1672
Fatty Acid Hydroxylase-Associated Neurodegeneration
Bilateral tonic-clonic seizure, Loss of ambulation, Visual field defect, Progressive gait ataxia,... ORPHA:329308
Attrv30M Amyloidosis
Weight loss, Vitreous floaters, Impotence ORPHA:85447
Holocarboxylase Synthetase Deficiency
Seizure, Ataxia, Weight loss, Lethargy ORPHA:79242
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Cachexia, Arm dystonia, Axial dystonia, Chorea, Oromandibular dystonia, Amyotrophic lat... ORPHA:300605
Oromandibular Dystonia
Lingual dystonia, Torticollis, Weight loss, Laryngeal dystonia, Generalized dystonia, Blepharospa... ORPHA:93958
Oculopharyngodistal Myopathy
Loss of ability to walk, Weight loss, Difficulty walking ORPHA:98897
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Myoclonic Epilepsy Of Lafora
Gait disturbance, Bilateral tonic-clonic seizure, Myoclonus, Visual loss, Bilateral tonic-clonic ... OMIM:254780
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Small for gestational age, Bilater... ORPHA:289266
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Failure to thrive, Focal impaired awareness seizure, Cerebral vis... ORPHA:488613
Gerstmann-Straussler Disease
Weight loss, Myoclonus, Bradykinesia, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:137440
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Familial Colorectal Cancer Type X
Gait disturbance, Paresthesia, Weight loss, Visual field defect, Uterine neoplasm, Attention defi... ORPHA:440437
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Lafora Disease
Gait disturbance, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Se... ORPHA:501
Lynch Syndrome
Gait disturbance, Ovarian neoplasm, Paresthesia, Weight loss, Visual field defect, Attention defi... ORPHA:144
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Chronic Hiccup
Weight loss ORPHA:396
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Bilateral tonic-clonic seizure, Seizure, Micropenis, Overweight, Decreased test... ORPHA:457240
Angelman Syndrome
Myopia, Precocious puberty in females, Hypermetropia, Bilateral tonic-clonic seizure, Infantile s... ORPHA:72
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:609446
Neuropathy, Congenital Hypomyelinating, 3
Seizure, Dystonia, Cachexia, Visual impairment OMIM:618186
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Tonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal impaired awar... OMIM:619428
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:619000
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Small for gestational age, Bilateral tonic-clonic seizure, Infantile spasms, Seizure, A... ORPHA:79243
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss OMIM:275000
Peritoneal Cystic Mesothelioma
Weight loss, Menorrhagia, Metrorrhagia, Dyspareunia ORPHA:168816
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Rett Syndrome
Dystonia, Cachexia, Seizure, Truncal ataxia, Gait ataxia, Gait apraxia OMIM:312750
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:607681
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Tonic seizure, Choreoathetosis, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired... OMIM:619580
Gm1 Gangliosidosis
Dystonia, Gait disturbance, Failure to thrive, Weight loss, Abnormality of the scrotum, Seizure, ... ORPHA:354
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Juvenile Neuronal Ceroid Lipofuscinosis
Myoclonic spasms, Bilateral tonic-clonic seizure, Large central visual field defect, Visual loss,... ORPHA:79264
Dk1-Cdg
Bilateral tonic-clonic seizure, Infantile spasms, Failure to thrive, Seizure, Focal-onset seizure... ORPHA:91131
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic s... ORPHA:42
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:618856
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Torticollis, Weight loss, Metrorrhagia, Seizure, Precocious puberty, Uterine ne... ORPHA:370348
Erythrokeratodermia Variabilis
Abnormal testis morphology, Weight loss ORPHA:317
Renpenning Syndrome
Hypospadias, High hypermetropia, Cachexia, Seizure, Decreased testicular size ORPHA:3242
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Myoclonic seizure, Foc... ORPHA:363558
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Myoclonus, Blepharospasm, Bilateral tonic-clonic seizure OMIM:607876
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss, Lethargy OMIM:143880
Perry Syndrome
Dystonia, Weight loss, Bradykinesia, Short stepped shuffling gait, Akinesia OMIM:168605
Mulibrey Nanism
Cachexia ORPHA:2576
Intellectual Developmental Disorder, X-Linked 30
Seizure, Hyperactivity, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300558
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss, Myoclonus OMIM:256700
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Gait disturbance, Bilateral tonic-clonic seizure, Spastic ataxia, Somatic sensory dysfunction ORPHA:199354
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Paresthesia, Hypogonadotropic hypogonadism, Weight loss, Hypergonadotropic hypogonadism ORPHA:298
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Athetosis, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Failure to th... ORPHA:79351
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
X-Linked Non-Syndromic Intellectual Disability
Small for gestational age, Bilateral tonic-clonic seizure, Seizure, Obesity, Attention deficit hy... ORPHA:777
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Bilateral tonic-clonic seizure, Seizure, Bilateral tonic-clonic seizure with gene... ORPHA:98795
Tsh-Secreting Pituitary Adenoma
Progressive visual loss, Abnormality of the menstrual cycle, Decreased female libido, Seizure, Di... ORPHA:91347
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure OMIM:609800
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Seizure, Inability to walk, Failure to thrive in infancy, Cachexia OMIM:616801
Takayasu Arteritis
Seizure, Weight loss, Amaurosis fugax ORPHA:3287
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Amblyopia, Focal impaired awareness s... ORPHA:480864
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... OMIM:619338
Wilson Disease
Failure to thrive, Weight loss, Abnormality of the menstrual cycle, Difficulty walking, Increased... ORPHA:905
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cerebral visual impairment, Cachexia ORPHA:1389
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Seizure, Hyperactivity, Hypogonadism, Broad-based gait, Obesity, Hypoplasia of penis, D... ORPHA:85293
Familial Thrombocytosis
Paresthesia, Weight loss, Visual field defect, Spontaneous abortion, Seizure ORPHA:71493
Early Infantile Epileptic Encephalopathy
Generalized clonic seizure, Dystonia, Febrile seizure (within the age range of 3 months to 6 year... ORPHA:1934
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Gait disturbance, Bilateral tonic-clonic seizure, Failure to thrive, Seizure, Ataxia, Focal-onset... ORPHA:395
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Weight loss, Erectile... ORPHA:465508
Mcdonough Syndrome
Cachexia, Cryptorchidism ORPHA:2471
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss, Abnormal prostate morphology, Vaginal neoplasm, Diplopia, Prostate cancer, Uterine n... ORPHA:2126
Developmental And Epileptic Encephalopathy 95
Gait disturbance, Bilateral tonic-clonic seizure, Multifocal seizures, Cerebral visual impairment... OMIM:618143
Intellectual Developmental Disorder, Autosomal Dominant 34
Cerebral visual impairment, Bilateral tonic-clonic seizure, Broad-based gait OMIM:616351
Liposarcoma
Weight loss, Paresthesia ORPHA:69078
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Bilateral tonic-clonic seizure ORPHA:275864
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Cerebral visual impa... ORPHA:369929
Hereditary Late-Onset Parkinson Disease
Dystonia, Weight loss, Shuffling gait, Bradykinesia, Akinesia, Diplopia ORPHA:411602
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Bilateral tonic-clonic seizure, Failure to thrive, Cerebral visual impairment, Ataxia, Inability ... ORPHA:481152
Giant Cell Arteritis
Paresthesia, Weight loss, Visual field defect, Visual loss, Ataxia, Amaurosis fugax, Diplopia, Vi... ORPHA:397
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Xfe Progeroid Syndrome
Cachexia, Visual impairment OMIM:610965
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
8P23.1 Microdeletion Syndrome
Hypospadias, Weight loss, Seizure, Cryptorchidism, Obesity, Attention deficit hyperactivity disorder ORPHA:251071
Porphyria Cutanea Tarda
Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Hepatic lobular... ORPHA:101330
Developmental And Epileptic Encephalopathy 4
Bilateral tonic-clonic seizure, Status epilepticus, Generalized myoclonic seizure, Generalized to... OMIM:612164
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Scotoma, Seizure, Ataxia, ... ORPHA:79241
X-Linked Intellectual Disability Due To Gria3 Mutations
Bilateral tonic-clonic seizure, Slender build, Myoclonus, Seizure, Status epilepticus, Micropenis... ORPHA:364028
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Infantile spasms, Cerebr... ORPHA:457351
Infantile Krabbe Disease
Cachexia, Failure to thrive, Myoclonus, Hyperesthesia, Visual loss, Seizure, Generalized myocloni... ORPHA:206436
Desmoplastic Small Round Cell Tumor
Weight loss, Cachexia, Ovarian neoplasm, Testicular neoplasm ORPHA:83469
Malignant Atrophic Papulosis
Weight loss, Seizure, Pain insensitivity, Amaurosis fugax, Diplopia ORPHA:679
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure, Hydrocele testis OMIM:618832
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Mast Cell Sarcoma
Weight loss ORPHA:66661
Familial Glucocorticoid Deficiency
Testicular adrenal rest tumor, Azoospermia, Failure to thrive, Weight loss, Precocious puberty, C... ORPHA:361
Eosinophilic Fasciitis
Weight loss, Paresthesia ORPHA:3165
Sandhoff Disease
Impaired temperature sensation, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Blindn... OMIM:268800
Follicular Lymphoma
Weight loss ORPHA:545
Hirschsprung Disease
Weight loss, Failure to thrive in infancy ORPHA:388
Focal Myositis
Weight loss ORPHA:48918
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Distal sensory impairment, Weight loss, Cachexia, Slender build OMIM:603041
Pleural Mesothelioma
Weight loss ORPHA:50251
Celiac Disease, Susceptibility To, 1
Infertility, Failure to thrive, Weight loss, Seizure, Ataxia OMIM:212750
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Bilateral tonic-clonic seizure, Nocturnal seizures, Attention deficit hypera... ORPHA:98784
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Weight loss ORPHA:2221
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure, Pain insensitivity, Impaired tactile sensation, Small for gestati... ORPHA:453510
Pfapa Syndrome
Weight loss ORPHA:42642
Ring Chromosome 10 Syndrome
Seizure, Cachexia ORPHA:1438
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Bilateral tonic-clonic seizure, Seizure, Ataxia, Inability to walk, Retractile testis, Generalize... OMIM:617193
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Cerebral visual impairment, Athetosis, Bilateral tonic-clonic seizure OMIM:615474
Whipple Disease
Cachexia, Myoclonus, Erectile dysfunction, Seizure, Ataxia ORPHA:3452
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Tonic seizure, Failure to thrive, Infantile spasms, Ataxia, Hyper... OMIM:300912
Perry Syndrome
Weight loss ORPHA:178509
Silver-Russell Syndrome
Hypospadias, Failure to thrive in infancy, Cachexia, Abnormal vagina morphology, Abnormality of m... ORPHA:813
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Ritscher-Schinzel Syndrome 4
Athetosis, Bilateral tonic-clonic seizure, Chorea, Ataxia, Micropenis, Focal-onset seizure, Crypt... OMIM:619435
Deafness-Lymphedema-Leukemia Syndrome
Visual loss, Weight loss ORPHA:3226
Renal Nutcracker Syndrome
Infertility, Dysmenorrhea, Vulval varicose vein, Weight loss, Dyspareunia, Varicocele ORPHA:71273
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Weight loss, Small for gestational age ORPHA:424
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal lower motor neuron morphology ORPHA:93941
Rhabdoid Tumor
Weight loss ORPHA:69077
Aicardi-Goutieres Syndrome 9
Dystonia, Failure to thrive, Weight loss, Seizure, Micropenis OMIM:619487
Bilateral Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Cerebellar ataxia associated with quadrupedal g... ORPHA:268940
Isolated Permanent Neonatal Diabetes Mellitus
Bilateral tonic-clonic seizure, Failure to thrive, Weight loss, Ataxia, Generalized myoclonic sei... ORPHA:99885
Late-Onset Isolated Acth Deficiency
Failure to thrive, Weight loss, Seizure, Premature ovarian insufficiency, Lethargy ORPHA:199299
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogenic pancreas, Abnormal liver parench... ORPHA:456312
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Precocious puberty in females, Oligomenorrhea, Fused labia majora, Long pe... ORPHA:90794
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Seizure, Cachexia, Severe failure to thrive, Hyperesthesia ORPHA:371364
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Beta-Ketothiolase Deficiency
Seizure, Ataxia, Weight loss ORPHA:134
Immunodeficiency 27A
Weight loss OMIM:209950
19Q13.11 Microdeletion Syndrome
Hypospadias, Cachexia, Bifid scrotum, Failure to thrive, Cryptorchidism ORPHA:217346
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Weight loss, Cachexia ORPHA:1979
Osteosarcoma
Weight loss ORPHA:668
Glossopharyngeal Neuralgia
Seizure, Weight loss, Dysesthesia ORPHA:221098
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Thymic Carcinoma
Weight loss ORPHA:99868
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Weight loss, Hypogonadism, Abnormal testis morphology, Primary testicular failure, ... ORPHA:85450
Cronkhite-Canada Syndrome
Seizure, Cachexia ORPHA:2930
Polymyositis
Gait disturbance, Weight loss ORPHA:732
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss, Myoclonus, Seizure, Ataxia, Lethargy ORPHA:20
Floating-Harbor Syndrome
Hypospadias, Hypermetropia, Small for gestational age, Congenital posterior urethral valve, Seizu... ORPHA:2044
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypospadias, Myopia, Failure to thrive in infancy, Gait disturbance, Hypermetropia, Febrile seizu... ORPHA:268261
Poems Syndrome
Paresthesia, Weight loss, Hyperesthesia, Erectile dysfunction, Hypogonadism ORPHA:2905
Melas
Gait disturbance, Bilateral tonic-clonic seizure, Failure to thrive, Hypogonadotropic hypogonadis... ORPHA:550
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Weight loss ORPHA:54251
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Ataxia, Weight loss, Visual impairment ORPHA:35687
Behçet Disease
Gait disturbance, Paresthesia, Weight loss, Seizure, Ataxia, Blindness, Orchitis, Photophobia ORPHA:117
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Failure to thrive, Chorea, Seizure, A... ORPHA:255210
Bullous Pemphigoid
Weight loss ORPHA:703
Kaposi Sarcoma
Weight loss ORPHA:33276
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Cap Polyposis
Weight loss ORPHA:160148
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Diplopia, Cachexia ORPHA:220295
Familial Gestational Hyperthyroidism
Hyperactivity, Weight loss ORPHA:99819
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Myopia, Failure to thrive, Weight loss, Abnormality of the female genitalia, Vaginal neoplasm, Ut... ORPHA:1018
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Leishmaniasis
Weight loss ORPHA:507
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), De... ORPHA:3044
African Trypanosomiasis
Impaired proprioception, Gait disturbance, Infertility, Paresthesia, Choreoathetosis, Weight loss... ORPHA:3385
Hermansky-Pudlak Syndrome
Myopia, Amblyopia, Weight loss, Menometrorrhagia, Photophobia, Visual impairment ORPHA:79430
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Congenital Tufting Enteropathy
Failure to thrive, Weight loss, Photophobia ORPHA:92050
Chronic Beryllium Disease
Weight loss ORPHA:133
Acrodermatitis Enteropathica
Failure to thrive, Weight loss, Photophobia, Visual impairment ORPHA:37
Polyarteritis Nodosa
Weight loss ORPHA:767
Alternating Hemiplegia Of Childhood
Dystonia, Bilateral tonic-clonic seizure, Choreoathetosis, Failure to thrive, Chorea, Focal motor... ORPHA:2131
Majeed Syndrome
Failure to thrive, Weight loss, Cachexia ORPHA:77297
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure, Small for gestational age OMIM:619278
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Myopia, Febrile seizure (within the age range of 3 months to 6 years), Hypermetropia, Bilateral t... ORPHA:513456
Molybdenum Cofactor Deficiency, Complementation Group C
Seizure, Spontaneous abortion, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615501
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Myopia, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic sei... ORPHA:466943
Tetrasomy 12P
Cachexia ORPHA:884
Stevens-Johnson Syndrome
Weight loss, Dyspareunia, Abnormality of the urethra, Photophobia, Visual impairment ORPHA:36426
Eosinophilic Granulomatosis With Polyangiitis
Gait disturbance, Weight loss ORPHA:183
Microsporidiosis
Abnormality of the endometrium, Cachexia, Prostatitis, Weight loss, Urethritis, Visual loss, Seiz... ORPHA:2552
Simple Cryoglobulinemia
Seizure, Weight loss, Paresthesia, Spontaneous pain sensation ORPHA:91139
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Choreoacanthocytosis
Lingual dystonia, Bilateral tonic-clonic seizure, Loss of ambulation, Chorea, Weight loss, Oroman... ORPHA:2388
Generalized Pseudohypoaldosteronism Type 1
Weight loss, Failure to thrive in infancy ORPHA:171876
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Hypospadias, Myopia, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... ORPHA:459070
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Alveolar Echinococcosis
Seizure, Ataxia, Weight loss ORPHA:284
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Yao Syndrome
Weight loss OMIM:617321
Floating-Harbor Syndrome
Hypospadias, Hypermetropia, Congenital posterior urethral valve, Varicocele, Epididymal cyst, Cry... OMIM:136140
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Truncal obesity, Visual loss, Abnormalit... ORPHA:466950
Nephroblastoma
Weight loss ORPHA:654
Fanconi Anemia
Hypospadias, Azoospermia, Weight loss, Decreased fertility in males, Abnormal preputium morpholog... ORPHA:84
Adrenocortical Carcinoma
Abnormality of reproductive system physiology, Weight loss, Increased body weight ORPHA:1501
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Cystic Echinococcosis
Abnormality of the testis size, Weight loss, Ovarian cyst ORPHA:400
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Loeffler Endocarditis
Weight loss ORPHA:75566
Pemphigus Vulgaris
Weight loss ORPHA:704
Rheumatoid Arthritis
Weight loss OMIM:180300
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure, High myopia, Slender build, Large for gestational age, Micropenis... ORPHA:457359
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Thymoma
Prostate neoplasm, Weight loss ORPHA:99867
Igg4-Related Retroperitoneal Fibrosis
Weight loss, Retrograde ejaculation, Varicocele, Impotence, Hydrocele testis ORPHA:49041
Toxic Epidermal Necrolysis
Abnormal vagina morphology, Weight loss, Visual loss, Abnormality of the urethra, Photophobia ORPHA:537
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Reduced sperm motility, Bicornuate uterus, Epididymal cyst, Hy... OMIM:137920
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Primary Hepatic Neuroendocrine Carcinoma
Weight loss, Reduced visual acuity ORPHA:100085
Acute Promyelocytic Leukemia
Weight loss, Metrorrhagia ORPHA:520
Riddle Syndrome
Ataxia, Weight loss, Gait disturbance ORPHA:420741
Schwartz-Jampel Syndrome
Myopia, Cachexia, Gait disturbance, Attention deficit hyperactivity disorder, Testicular torsion,... ORPHA:800
Short Syndrome
Weight loss ORPHA:3163
Igg4-Related Aortitis
Weight loss ORPHA:449400
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Bifid scrotum, Bilateral tonic-clonic seizure, Small for gestational age, Micropenis... OMIM:257300
Felty Syndrome
Weight loss ORPHA:47612
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Paresthesia OMIM:175500
Ménétrier Disease
Weight loss ORPHA:2494
Addison Disease
Failure to thrive, Weight loss, Decreased female libido, Seizure, Primary testicular failure, Pre... ORPHA:85138
Cockayne Syndrome
Gait disturbance, Cachexia, Hypermetropia, Progressive visual loss, Progressive gait ataxia, Seiz... ORPHA:191
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Aredyld Syndrome
Cachexia ORPHA:1133
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypospadias, Bilateral tonic-clonic seizure, Failure to thrive, Ataxia, Blindness, Lethargy OMIM:252010
Acute Adrenal Insufficiency
Failure to thrive, Seizure, Weight loss, Decreased female libido ORPHA:95409
Wolman Disease
Cachexia ORPHA:75233
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Enlarged ovaries, Weight loss, Polycystic ovaries, Decreased body wei... ORPHA:2298
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Mosaic Trisomy 9
Abnormal liver lobulation, Asplenia ORPHA:99776
Oculopharyngodistal Myopathy 1
Ataxia, Weight loss, Difficulty walking OMIM:164310
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Refractory Celiac Disease
Weight loss ORPHA:398063
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Pneumocystosis
Weight loss ORPHA:723
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Azoospermia, Bilateral tonic-clonic seizure with generalized onset, Broad-based gait, G... ORPHA:2072
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Primary Myelofibrosis
Cachexia ORPHA:824
Klatskin Tumor
Weight loss ORPHA:99978
Granulomatosis With Polyangiitis
Seizure, Weight loss, Visual impairment, Prostatitis ORPHA:900
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Von Hippel-Lindau Disease
Visual loss, Epididymal cyst, Papillary cystadenoma of the epididymis ORPHA:892
Von Hippel-Lindau Syndrome
Papillary cystadenoma of the epididymis, Epididymal cyst OMIM:193300
Al Amyloidosis
Weight loss, Autonomic erectile dysfunction ORPHA:85443
Brucellosis
Small for gestational age, Failure to thrive, Chorea, Weight loss, Epididymitis, Spontaneous abor... ORPHA:1304
Budd-Chiari Syndrome
Weight loss ORPHA:131
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Camurati-Engelmann Disease
Cachexia, Slender build, Hypogonadism, Ataxia, Waddling gait ORPHA:1328
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Pyomyositis
Testicular teratoma, Weight loss ORPHA:764
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Hemeralopia ORPHA:309031
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Malt Lymphoma
Weight loss, Visual impairment ORPHA:52417
Pulmonary Alveolar Microlithiasis
Testicular microlithiasis, Weight loss, Gonadal calcification, Decreased fertility ORPHA:60025
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Bannayan-Riley-Ruvalcaba Syndrome
Seizure, Cachexia, Uterine neoplasm ORPHA:109
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Mucolipidosis Type Ii
Inability to walk, Weight loss ORPHA:576
Norrie Disease
Cachexia, Uterine rupture, Failure to thrive, Erectile dysfunction, Seizure, Blindness, Cryptorch... ORPHA:649
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Familial Pancreatic Carcinoma
Weight loss, Ovarian carcinoma ORPHA:1333
Polycythemia Vera
Weight loss ORPHA:729
Trisomy 18
Cryptorchidism, Cachexia, Abnormal morphology of female internal genitalia ORPHA:3380
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Marfan Syndrome
Myopia, Cachexia, Slender build, Attention deficit hyperactivity disorder, Visual impairment ORPHA:558
Hereditary Pheochromocytoma-Paraganglioma
Weight loss ORPHA:29072
Multiple Endocrine Neoplasia Type 1
Amenorrhea, Weight loss, Atypical absence status epilepticus, Impotence, Decreased male libido, L... ORPHA:652
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Myoclonic spasms, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:447997
Reactive Arthritis
Weight loss, Photophobia ORPHA:29207
Multiple Myeloma
Weight loss, Paresthesia ORPHA:29073
Nocardiosis
Seizure, Weight loss, Scotoma ORPHA:31204
Caroli Disease
Weight loss ORPHA:53035
Lysosomal Acid Lipase Deficiency
Failure to thrive, Weight loss, Cachexia ORPHA:275761
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Q Fever
Weight loss ORPHA:781
Hutchinson-Gilford Progeria Syndrome
Weight loss, Shuffling gait, Severe failure to thrive, Hypoplastic male external genitalia, Femal... ORPHA:740
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Parathyroid Carcinoma
Weight loss, Uterine leiomyoma, Testicular neoplasm ORPHA:143
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Nijmegen Breakage Syndrome
Attention deficit hyperactivity disorder, Cachexia ORPHA:647
Pancreatoblastoma
Weight loss ORPHA:677
Igg4-Related Kidney Disease
Weight loss, Urethritis, Prostatitis ORPHA:449395
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Sarcoidosis
Hepatomegaly, Abnormal liver parenchyma morphology, Decreased liver function, Hepatic failure, Po... ORPHA:797
Postinfectious Vasculitis
Orchitis, Weight loss ORPHA:48435
Sarcoidosis, Susceptibility To, 1
Weight loss, Photophobia, Blurred vision OMIM:181000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Castleman Disease
Weight loss ORPHA:160
Tropical Pancreatitis
Weight loss ORPHA:103918
Kikuchi-Fujimoto Disease
Ataxia, Weight loss ORPHA:50918
Cushing Syndrome Due To Ectopic Acth Secretion
Secondary amenorrhea, Oligomenorrhea, Amenorrhea, Weight loss, Truncal obesity, Abnormal libido, ... ORPHA:99889
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Jejunal Neuroendocrine Tumor
Weight loss ORPHA:100077
Proteus Syndrome
Myopia, Cachexia, Ovarian neoplasm, Macroorchidism, Long penis, Seizure, Enlarged polycystic ovar... ORPHA:744
Juvenile Polyposis Of Infancy
Cachexia, Freckled genitalia ORPHA:79076
Rat-Bite Fever
Weight loss ORPHA:31205
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Ppoma
Weight loss ORPHA:97278
Seckel Syndrome
Cachexia ORPHA:808
Stickler Syndrome
Myopia, Cachexia, Slender build, Blindness, Visual impairment ORPHA:828
Somatostatinoma
Weight loss ORPHA:97283
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Vipoma
Weight loss ORPHA:97282
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Grfoma
Weight loss ORPHA:97261
Igg4-Related Dacryoadenitis And Sialadenitis
Weight loss, Blindness ORPHA:79078
Chronic Graft Versus Host Disease
Weight loss, Photophobia, Phimosis, Abnormal vagina morphology ORPHA:99921
Glucagonoma
Weight loss ORPHA:97280
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Hepatocellular Carcinoma
Weight loss ORPHA:88673
Dermatomyositis
Weight loss ORPHA:221
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss, Photophobia, Visual impairment ORPHA:91500
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

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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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