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Gene: Flvcr2 MGI:2384974

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Gene Summary

Name:
feline leukemia virus subgroup C cellular receptor 2
Synonyms:
Mfsd7c,  CCT

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating LDL cholesterol level Flvcr2tm1a(EUCOMM)Hmgu HET Early adult 1.39×10-06
increased circulating HDL cholesterol level Flvcr2tm1a(EUCOMM)Hmgu HET Early adult 4.20×10-05
increased circulating cholesterol level Flvcr2tm1a(EUCOMM)Hmgu HET Early adult 1.54×10-05
preweaning lethality, complete penetrance Flvcr2tm1a(EUCOMM)Hmgu HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

DSS Histology

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8 Images

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Anti-nuclear antibody assay

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2 Images

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Ear epidermis immunophenotyping

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6 Images

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Human diseases caused by Flvcr2 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 Flvcr2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:225790

The table below shows human diseases predicted to be associated to Flvcr2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Meningitis, Lethargy, Herpes simplex encephalitis, Hemiparesis OMIM:617900
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Babi... OMIM:128230
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Cyanosis, Hemiparesis, Paralysis, Lethargy, Apraxia, Hypertonia, A... ORPHA:71277
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Death in childhood, Lethargy, Ataxia, Bradykinesia OMIM:618683
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Bradykinesia, Gait ataxia, Abnormal pyramidal sign, Tremor by anatomi... ORPHA:101110
L-2-Hydroxyglutaric Aciduria
Spastic tetraparesis, Infectious encephalitis, Abnormality of extrapyramidal motor function ORPHA:79314
Immunodeficiency 83, Susceptibility To Viral Infections
Meningitis, Lethargy, Herpes simplex encephalitis, Hemiparesis OMIM:613002
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Caribbean Parkinsonism
Ventriculomegaly, Myoclonus, Action tremor, Rigidity, Progressive gait ataxia, Parkinsonism, Apra... ORPHA:97355
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Dystonia 16
Postural tremor, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia ORPHA:210571
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Dilated third ventricle, Resting tremor, Lateral ventricle dilat... ORPHA:363654
Crigler-Najjar Syndrome
Jaundice, Lethargy, Infectious encephalitis ORPHA:205
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:613643
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:620482
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, At... OMIM:213600
Autosomal Dominant Spastic Paraplegia Type 3
Ankle clonus, Rigidity, Babinski sign, Lower limb spasticity, Spastic gait, Bradykinesia, Frequen... ORPHA:100984
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Bradykinesia, Slurred ... OMIM:300423
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Juvenile Huntington Disease
Ventriculomegaly, Chorea, Myoclonus, Gait ataxia, Rigidity, Ataxia, Bradykinesia, Progressive cer... ORPHA:248111
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favorable response... ORPHA:314632
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Tremor, Hemiparesis, Parkinsonism, Bradykinesia ORPHA:306669
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Limb ataxia, Babinski sign, Lower limb spasticity, Bradykinesia, Upper limb s... OMIM:618418
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Resting tremor, Gait ataxia, Babinski sign, Parkinsonism, Abnormal pyramidal ... OMIM:617225
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Parkinsonism, Resting tremor, Rigidity OMIM:605909
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Tremor, Ankle clonus, Babinski sign, Scissor gait, Parkinsonism, Bradykinesia ORPHA:521406
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Myoclonus, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, ... ORPHA:101150
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb ataxia, Rigidity, Babinski sign, Parkinsonism, Hypertonia, Bradykinesia OMIM:618824
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Spinocerebellar Ataxia 17
Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Parkinsonism, Apraxia, Ataxia, ... OMIM:607136
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Pill-rolling tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Limb hypertonia... OMIM:615528
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Bradykinesia, Abnormal pyramidal sign, Spastic tetraparesis OMIM:619052
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:616710
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Dysmetria, Parkinsonism, Abnormal pyramidal sign, Ataxia, Bradykinesia, Slurred speech OMIM:618317
Parkinsonism With Polyneuropathy
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:619279
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Bradykinesia, Resting tremor, Rigidity ORPHA:306692
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Rigidity ORPHA:228169
Dystonia 12
Tremor, Parkinsonism, Torticollis, Bradykinesia OMIM:128235
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Zika Virus Disease
Myelitis, Subcutaneous hemorrhage, Skin rash, Infectious encephalitis, Meningitis, Arthritis, Con... ORPHA:448237
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Gait ataxia, Parkinsonism, Torticollis, Bradykinesia ORPHA:71517
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Myoclonus, Hypertonia OMIM:610992
Nipah Virus Disease
Recurrent pharyngitis, Myoclonus, Tremor, Infectious encephalitis ORPHA:99825
Dravet Syndrome
Incoordination, Cogwheel rigidity, Action tremor, Myoclonus, Rigidity, Progressive gait ataxia, P... ORPHA:33069
Cerebellar Ataxia, Cayman Type
Gait ataxia, Ataxia, Truncal ataxia, Bradykinesia, Intention tremor OMIM:601238
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Typhoid
Skin rash, Tremor, Infectious encephalitis, Lethargy, Hypertonia, Ataxia ORPHA:99745
Huntington Disease
Chorea, Gait ataxia, Bradykinesia, Rigidity OMIM:143100
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, Torticollis, Bradykinesia OMIM:619862
Huntington Disease-Like 1
Involuntary movements, Ventriculomegaly, Incoordination, Chorea, Gait ataxia, Simultanapraxia, Dy... ORPHA:157941
Spinocerebellar Ataxia 2
Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysmetria, Ri... OMIM:183090
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency 37
Colitis, Recurrent infections, Infectious encephalitis OMIM:616098
Infantile Dystonia-Parkinsonism
Cerebral palsy, Chorea, Parkinsonism, Abnormal pyramidal sign, Limb hypertonia, Hypertonia, Brady... ORPHA:238455
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... OMIM:209920
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Herpes simplex encephalitis OMIM:616532
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Tremor, Rigidity, Parkinsonism, Bradykinesia ORPHA:329284
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... OMIM:615157
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity ORPHA:240085
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Tremor, Rigidity OMIM:617836
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia, Recurrent respiratory infections OMIM:619063
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Rigidity, Apraxia, Parkinsonism, Bradykinesia OMIM:221820
Scrub Typhus
Skin rash, Tremor, Infectious encephalitis, Lethargy, Myocarditis, Meningitis, Anterior uveitis ORPHA:83317
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity OMIM:606438
C1Q Deficiency 3
Discoid lupus rash, Recurrent bacterial meningitis OMIM:620322
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Choreoathetosis OMIM:261640
Leber Optic Atrophy And Dystonia
Upper motor neuron dysfunction, Spasticity, Athetosis, Bradykinesia OMIM:500001
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Parkinsonism, Atax... OMIM:619725
Neurocutaneous Melanocytosis
Ventriculomegaly, Death in infancy, Infectious encephalitis, Hemiparesis, Dandy-Walker malformation ORPHA:2481
Machado-Joseph Disease
Spasticity, Facial-lingual fasciculations, Fasciculations, Dilated fourth ventricle, Limb ataxia,... OMIM:109150
Complement Component 8 Deficiency, Type I
Meningitis OMIM:613790
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Bradykinesia, Limb hypertonia, Hypertonia, Parkinsonism OMIM:617384
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Molluscum contagiosum, Recurrent infections,... OMIM:618982
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Spastic paraparesis, Spastic tetraplegia, Rigidity OMIM:615643
Lopes-Maciel-Rodan Syndrome
Spasticity, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Bradykinesia OMIM:617435
Cerebral Visual Impairment
Unusual CNS infection, Cerebral palsy, Infectious encephalitis, Clumsiness, Oculomotor apraxia, H... ORPHA:447788
Aspergillosis
Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Invasive pulmonary aspergillosis, Osteomy... ORPHA:1163
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Action tremor, Optic neuritis, Parkinsonism with favorable response to dopamin... ORPHA:254886
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5
Herpes simplex encephalitis OMIM:614849
Avian Influenza
Pneumonia, Myelitis, Hepatitis, Infectious encephalitis, Conjunctivitis, Meningitis, Hypoxemia, M... ORPHA:454836
Parkinson Disease 17
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Pfapa Syndrome
Recurrent pharyngitis, Arthritis, Infectious encephalitis ORPHA:42642
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Lateral ventricle dilatation, Myoclonus, Clumsiness, Paraparesis, Lower limb spastici... OMIM:617854
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Gait ataxia... ORPHA:282166
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism, Parapar... OMIM:606693
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movements, Parkinsonism, Abnormal pyram... OMIM:613135
Perching Syndrome
Cyanosis OMIM:617055
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormality of extrapyramidal ... ORPHA:13
Spinocerebellar Ataxia 10
Incoordination, Limb fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyr... OMIM:603516
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Parkinsonism, Bradykinesia ORPHA:412066
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Resting tremor, Tremor, Babinski sign, Parkinsonism, Apr... OMIM:300055
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent enteroviral infections, Conjunctivitis, Enteroviral dermatomyositis syndrome... OMIM:307200
Listeriosis
Arteritis, Hemiparesis, Pustule, Ataxia, Meningitis, Jaundice, Endocarditis, Unusual CNS infectio... ORPHA:533
Bacterial Toxic-Shock Syndrome
Pneumonia, Severe varicella zoster infection, Hepatitis, Severe viral infection, Recurrent urinar... ORPHA:36234
X-Linked Dystonia-Parkinsonism
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Aspirat... ORPHA:53351
Meningococcal Meningitis
Petechiae, Skin rash, Infectious encephalitis, Lethargy, Purpura ORPHA:33475
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... OMIM:606324
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Severe Epstein Barr virus infection, Recurrent pharyngitis, Meningitis, ... OMIM:308240
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Reynolds Syndrome
Generalized abnormality of skin, Skin rash, Infectious encephalitis, Keratoconjunctivitis sicca, ... ORPHA:779
Drug Reaction With Eosinophilia And Systemic Symptoms
Erythema, Hepatitis, Angioedema, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pu... ORPHA:139402
Dystonia 16
Involuntary movements, Postural tremor, Retrocollis, Parkinsonism, Abnormal pyramidal sign, Brady... OMIM:612067
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Tremor, Ataxia, Bradykinesia, Poor fine motor coordination ORPHA:36387
Hartnup Disease
Infectious encephalitis, Cutaneous photosensitivity, Skin rash, Ataxia ORPHA:2116
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Episodic ataxia, Incoordination, Gait ataxia, Dysmetria, Hemiparesis, Ataxia, Truncal ataxia, Bra... OMIM:601338
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Tremor, Rigidity, Limb hypertonia, Bradykinesia ORPHA:70594
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Rigidity, Parkinsonism, Abnormal pyramidal sign, Br... ORPHA:102
Legionnaires Disease
Ataxia, Hepatitis, Infectious encephalitis, Pancreatitis, Recurrent pharyngitis, Myocarditis, Jau... ORPHA:549
Huntington Disease
Involuntary movements, Chorea, Myoclonus, Rigidity, Babinski sign, Clumsiness, Clonus, Bradykines... ORPHA:399
Gm1 Gangliosidosis
Spasticity, Recurrent respiratory infections, Aspiration pneumonia, Tremor, Abnormality of extrap... ORPHA:354
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Parkinsonism, ... ORPHA:99750
Whipple Disease
Uveitis, Myoclonus, Infectious encephalitis, Myositis, Abnormal pyramidal sign, Hydrocephalus, Ar... ORPHA:3452
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Head titubatio... OMIM:618877
Atypical Juvenile Parkinsonism
Involuntary movements, Resting tremor, Myoclonus, Gait ataxia, Rigidity, Abnormal pyramidal sign,... ORPHA:391411
Familial Hemophagocytic Lymphohistiocytosis
Bruising susceptibility, Skin rash, Petechiae, Infectious encephalitis, Ecchymosis, Jaundice, Ery... ORPHA:540
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Gait ataxia, Rigidity, Parkinsonism, Abnormal pyramidal sign, Br... ORPHA:98933
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Chorea, Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradyki... OMIM:606159
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Spastic paraparesis, Hand tremor, Rigidity, Babinski sign, Parkinsonism, Bradykinesia... ORPHA:289560
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Rigidity, Clumsiness, Parkinsonism, Bradykinesia OMIM:619911
Multiple System Atrophy, Cerebellar Type
Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Rigidity, Parkinsonism, Abnormal pyram... ORPHA:227510
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmetria, Intention tremor, Parkins... OMIM:300623
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemiplegia, Infectious encephalitis, Jaundice, Tetraplegia, Hypertonia, Ataxia, Meningitis OMIM:267700
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Sporadic Infantile Bilateral Striatal Necrosis
Recurrent upper respiratory tract infections, Resting tremor, Progressive extrapyramidal muscular... ORPHA:225147
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Fasciculations, Chorea, Postural tremor, Dysmetria, Bradykinesia, ... ORPHA:98755
Lyme Disease
Meningitis, Infectious encephalitis, Arthritis, Uveitis ORPHA:91546
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Infectious encephalitis ORPHA:1194
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemiplegia, Skin rash, Infectious encephalitis, Jaundice, Tetraplegia, Hypertonia, Ataxia, Mening... OMIM:603553
Congenital Enterovirus Infection
Ventriculomegaly, Hepatitis, Skin rash, Infectious encephalitis, Myocarditis, Meningitis ORPHA:292
Rift Valley Fever
Hepatitis, Severe viral infection, Skin rash, Hemiparesis, Infectious encephalitis, Paralysis, Pa... ORPHA:319251
Hereditary Methemoglobinemia
Spasticity, Cyanosis, Hypertonia, Athetosis, Spastic tetraplegia ORPHA:621
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Japanese Encephalitis
Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu... ORPHA:79139
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Immunoglobulin A Vasculitis
Erythema, Bruising susceptibility, Angioedema, Vascular skin abnormality, Episcleritis, Skin rash... ORPHA:761
Gerstmann-Straussler Disease
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal... OMIM:137440
Hypermanganesemia With Dystonia 2
Spasticity, Tremor, Ankle clonus, Opisthotonus, Babinski sign, Parkinsonism, Clumsiness, Scissor ... OMIM:617013
Encephalopathy, Ethylmalonic
Petechiae, Death in infancy, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia,... OMIM:602473
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Galactokinase Deficiency
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma ORPHA:79237
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism... OMIM:613280
Laron Syndrome
Hypercholesterolemia ORPHA:633
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Adult-Onset Nemaline Myopathy
Bradykinesia ORPHA:171442
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig... OMIM:600116
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Benign Familial Infantile Epilepsy
Cyanosis, Limb myoclonus, Hypertonia ORPHA:306
Immunodeficiency With Hyper-Igm, Type 1
Pneumocystis carinii pneumonia, Hepatitis, Enteroviral encephalitis, Sclerosing cholangitis, Ankl... OMIM:308230
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Gait ataxia, Rigidity, Babinski sign, Parkinsonism, Truncal ataxia, Bradykinesia, In... OMIM:258450
Autosomal Dominant Dopa-Responsive Dystonia
Rheumatoid arthritis, Postural tremor, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor... ORPHA:98808
Breath-Holding Spells
Cyanosis OMIM:607578
Lymphoproliferative Syndrome 2
Recurrent pneumonia, EBV meningitis, EBV encephalitis, Severe varicella zoster infection, Recurre... OMIM:615122
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Enteroviral dermatomyositis syndrome, Recurr... OMIM:300755
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Waisman Syndrome
Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable response t... OMIM:311510
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Poliomyelitis
Myelitis, Fasciculations, Infectious encephalitis, Hyperkinetic movements, Paralysis, Paraparesis... ORPHA:2912
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Childhood-Onset Nemaline Myopathy
Clumsiness, Bradykinesia ORPHA:171439
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:300894
Hyperlipoproteinemia, Type V
Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Increased circu... OMIM:144650
Alexander Disease
Spasticity, Chorea, Tremor, Infectious encephalitis, Abnormal pyramidal sign, Clonus, Tetraplegia... ORPHA:58
New-Onset Refractory Status Epilepticus
Infectious encephalitis ORPHA:363558
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Slowed slurred speech OMIM:619827
Acute Disseminated Encephalomyelitis
Involuntary movements, Post-vaccination measles, Myelitis, Herpes simplex encephalitis, Severe pa... ORPHA:83597
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Recurrent aphthous stomatitis, Herpes simplex encephalitis OMIM:614850
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Progressive extrapyramidal muscular rigidity, Tremor, Parkinsonism, Abnormal pyram... ORPHA:240071
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Postencephalitic Parkinsonism
Involuntary movements, Resting tremor, Cogwheel rigidity, Rigidity, Babinski sign, Abnormal pyram... ORPHA:97349
Q Fever
Pneumonia, Unusual infection, Hepatitis, Osteomyelitis, Cholecystitis, Infectious encephalitis, M... ORPHA:781
American Trypanosomiasis
Myocarditis, Skin rash, Infectious encephalitis ORPHA:3386
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice, Severe infection, Meningitis, Miscarriage ORPHA:464370
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Myoclonus, Cyanotic episode, Hypertonia, Spastic tetraparesis ORPHA:284417
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Laryngeal Abductor Paralysis
Cyanosis, Vocal cord paralysis OMIM:150260
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Manganese Poisoning
Postural tremor, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Hypertonia, Bra... ORPHA:306682
Autosomal Recessive Spastic Paraplegia Type 77
Progressive spastic paraplegia, Myoclonus, Babinski sign, Scissor gait, Lower limb spasticity, We... ORPHA:466722
Microsporidiosis
Pneumonia, Nephritis, Bronchiolitis, Lymphadenitis, Hepatitis, Keratitis, Brain abscess, Osteomye... ORPHA:2552
Ethylmalonic Encephalopathy
Petechiae, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia, Acrocya... ORPHA:51188
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Nocardiosis
Pneumonia, Unusual CNS infection, Lymphadenitis, Cutaneous abscess, Keratitis, Brain abscess, Ost... ORPHA:31204
Spinocerebellar Ataxia Type 13
Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Torticollis, Bradykinesia, Titubation ORPHA:98768
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Brain abscess, Cyanosis, Recurrent respiratory infections, Hypoxemia OMIM:610910
Spinocerebellar Ataxia Type 8
Spasticity, Limb ataxia, Gait ataxia, Rigidity, Ataxia, Bradykinesia, Spastic dysarthria ORPHA:98760
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Recurrent otitis media, Cyanosis, Opisthotonus, Hypertonia, Patent ductus arteriosus ORPHA:3304
Parkinsonian-Pyramidal Syndrome
Spasticity, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Bradykines... ORPHA:171695
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Clonus, Limb myoclonus ORPHA:1949
Zygomycosis
Nephritis, Unusual skin infection, Invasive fungal infection, Hepatitis, Brain abscess, Fasciitis... ORPHA:73263
Perry Syndrome
Parkinsonism, Rigidity, Tremor, Bradykinesia OMIM:168605
Neuroferritinopathy
Blepharospasm, Involuntary movements, Resting tremor, Chorea, Babinski sign, Parkinsonism, Bradyk... ORPHA:157846
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Incontinentia Pigmenti
Erythema, Spasticity, Keratitis, Skin rash, Hemiplegia/hemiparesis, Infectious encephalitis, Tela... ORPHA:464
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ... OMIM:612953
Behçet Disease
Orchitis, Recurrent aphthous stomatitis, Hemiparesis, Increased inflammatory response, Myositis, ... ORPHA:117
Brucellosis
Pneumonia, Hip osteoarthritis, Arteritis, Sacroiliac arthritis, Osteomyelitis, Chorea, Infectious... ORPHA:1304
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia, Cyanosis, Tremor OMIM:250800
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Chiari Malformation Type Ii
Hydrocephalus, Opisthotonus, Cyanosis, Ataxia OMIM:207950
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Complement Component 4B Deficiency
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Menin... OMIM:614379
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Hsd10 Disease, Infantile Type
Poor coordination, Cyanosis, Hyperkinetic movements, Spastic tetraparesis, Choreoathetosis, Spast... ORPHA:391428
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Spastic paraplegia, Infectious encephalitis, Death in infancy, Recurrent urinary tract infections ORPHA:847
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Cyanosis OMIM:263000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Hand tremor, Gait ataxia, Rigidity, Parkinsonism, Parkinsonism with favorable res... OMIM:157640
Congenital Heart Block
Cyanosis, Patent ductus arteriosus ORPHA:60041
Primary Progressive Freezing Gait
Postural tremor, Rigidity, Babinski sign, Clonus, Bradykinesia, Frequent falls ORPHA:75567
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Chorea, Gait ataxia, Intention tremor, Dysmetria, Babinski sign, Hypertonia, Bradykin... OMIM:610217
Tricuspid Atresia
Cyanosis ORPHA:1209
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Unusual skin infection, Hemiparesis, Pustule, Sinusitis, Lethargy, Infectious encephal... ORPHA:68
Parkinson Disease, Late-Onset
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:168600
Scedosporiosis
Pneumonia, Unusual CNS infection, Unusual skin infection, Invasive fungal infection, Septic arthr... ORPHA:449280
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Arteritis, Acne inversa, Herpes simplex encephaliti... OMIM:233600
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic tinea infection, Phaeohyphomycosis, Onychomycosis, Meningitis, Deep dermatophytosis, Chro... OMIM:212050
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de... ORPHA:391487
Chikungunya
Erythema, Skin rash, Petechiae, Infectious encephalitis, Crusting erythematous dermatitis, Synovi... ORPHA:324625
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ventriculomegaly, Gait ataxia, Cyanosis, Opisthotonus, Limb hypertonia, Ataxia, Choreoathetosis OMIM:619580
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive secondary to recurrent infections, Otitis media, Recurrent opportuni... OMIM:601457
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia OMIM:620454
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Myoclonus, Tremor, Rigidity, Clumsiness... ORPHA:199351
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Myoclonus, Rigidity, Parkinsonism, Bradykinesia OMIM:168601
Infant Acute Respiratory Distress Syndrome
Pneumonia, Cyanosis, Hypoxemia ORPHA:70587
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Recurrent aphthous stomatitis, Purpura, Peritonitis, Arthritis, Ataxia, Acrocyanosis, U... ORPHA:343
Progressive Supranuclear Palsy
Blepharospasm, Bradykinesia, Tremor, Rigidity ORPHA:683
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Spastic paraparesis, Action tremor, Rigidity, Jaundice, Hypertonia, Truncal ataxia, Bradykinesia,... ORPHA:309854
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal m... ORPHA:254892
Congenital Pulmonary Lymphangiectasia
Cyanosis ORPHA:2414
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Recurrent bronchitis, Meningitis, Cutaneo... ORPHA:331235
Young-Onset Parkinson Disease
Spasticity, Rigidity, Tremor, Bradykinesia ORPHA:2828
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Opisthotonus, Bruising susceptibility, Cyanosis ORPHA:335
Immunodeficiency 66
Pustule, Meningitis, Recurrent skin infections OMIM:618847
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Eosinophilic Fasciitis
Myositis, Acrocyanosis, Arthritis, Fasciitis ORPHA:3165
Hereditary Late-Onset Parkinson Disease
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... ORPHA:411602
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Truncal ataxia, Acrocyanosis, Intention tremor OMIM:614407
Fragile X-Associated Tremor/Ataxia Syndrome
Gait ataxia, Dysmetria, Rigidity, Parkinsonism, Ataxia, Bradykinesia, Intention tremor ORPHA:93256
Laryngotracheal Angioma
Cyanosis ORPHA:137935
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Ventriculomegaly, Lateral ventricle dilatation, Cyanosis ORPHA:488627
Isolated Agammaglobulinemia
Pneumonia, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality of the eye, Me... ORPHA:229717
Parkinson Disease 20, Early-Onset
Involuntary movements, Tremor, Rigidity, Parkinsonism, Bradykinesia, Eyelid apraxia OMIM:615530
Sepsis In Premature Infants
Invasive fungal infection, Cyanosis, Petechiae, Jaundice, Severe infection, Enterocolitis, Mening... ORPHA:90051
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Conjunctivitis, Recurrent otitis media, Recurrent bronchitis, Recurrent sinu... OMIM:240500
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79240
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Cysticercosis
Upper motor neuron dysfunction, Infectious encephalitis, Iridocyclitis, Ataxia ORPHA:1560
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Cyanosis ORPHA:2004
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis, Bronchiectasis ORPHA:2032
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Hypoxemia, Cyanosis ORPHA:2257
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Recurrent respiratory infections, Osteomyelitis, Skin rash, Arthritis,... ORPHA:33110
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Aicardi-Goutieres Syndrome 1
Erythema, Spasticity, Chilblains, Petechiae, Abnormality of extrapyramidal motor function, Purpur... OMIM:225750
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Babins... OMIM:234200
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia, Patent ductus arteriosus ORPHA:860
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Brain abscess, Cyanosis, Telangiectasia, Hypoxemia, Recurrent abscess for... ORPHA:2038
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Asbestos Intoxication
Oxygen desaturation on exertion, Hypoxemia, Cyanosis ORPHA:2302
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Kufor-Rakeb Syndrome
Blepharospasm, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Letharg... ORPHA:306674
Immunodeficiency 46
Conjunctivitis, Meningitis, Recurrent sinopulmonary infections, Chronic oral candidiasis OMIM:616740
Rett Syndrome
Bradykinesia, Cholecystitis, Limb apraxia ORPHA:778
Hypocomplementemic Urticarial Vasculitis
Conjunctivitis, Cerebral palsy, Angioedema, Episcleritis, Skin rash, Hemiplegia/hemiparesis, Recu... ORPHA:36412
Eosinophilic Granulomatosis With Polyangiitis
Cutis marmorata, Skin rash, Hemiplegia/hemiparesis, Increased inflammatory response, Myositis, My... ORPHA:183
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Conjunctivitis, Otitis media, Skin rash, Erythema no... ORPHA:3392
Complement Factor B Deficiency
Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis OMIM:615561
Tetrasomy 5P
Hydrocephalus, Recurrent respiratory infections, Cyanosis ORPHA:3309
Combined Oxidative Phosphorylation Deficiency 12
Babinski sign, Bradykinesia, Spastic tetraparesis OMIM:614924
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Death in infancy, Neonatal death OMIM:265120
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Spasticity, Myoclonus, Cyanosis, Death in childhood, Death in infancy, Hypertonia, Ataxia, Recurr... OMIM:618426
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Cyano... ORPHA:293987
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Palpable purpura, Cutis marmorata, Glomerulonephritis, Bact... ORPHA:48435
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Acute Interstitial Pneumonia
Cyanosis, Hypoxemia, Bronchiectasis ORPHA:79126
Necrotizing Enterocolitis
Peritonitis, Lethargy, Cyanosis ORPHA:391673
Choanal Atresia
Recurrent respiratory infections, Cyanosis, Chronic sinusitis ORPHA:137914
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... ORPHA:470
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infections, Pneumonia, Invasive fungal infection, Opportunistic infection, Eczematoid d... ORPHA:83471
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Death in infancy, Neonatal death, Nonspecific interstitial pneumonia, Hypoxemia OMIM:610921
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Capillary Malformation-Arteriovenous Malformation
Telangiectasia, Cerebral arteriovenous malformation, Hydrocephalus, Vascular skin abnormality ORPHA:137667
Waardenburg Syndrome Type 3
Spastic paraplegia, Acrocyanosis ORPHA:896
Agammaglobulinemia 10, Autosomal Dominant
Meningitis, Recurrent respiratory infections, Recurrent sinusitis OMIM:619707
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Skin rash, Recurrent fungal infections, Chronic oral candidiasis,... OMIM:300400
Multiple Mitochondrial Dysfunctions Syndrome 7
Myoclonus, Cyanosis, Ankle clonus, Lethargy, Hypertonia, Exaggerated startle response OMIM:620423
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Otitis media, Recurrent bacterial meningitis, Rhinitis, Sinusitis, Recurrent b... ORPHA:70593
Acquired Purpura Fulminans
Acrocyanosis, Skin rash, Macular purpura ORPHA:49566
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Recurrent meningococc... OMIM:610984
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis ORPHA:444013
Double Outlet Right Ventricle
Cyanosis, Truncus arteriosus ORPHA:3426
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Cyanosis ORPHA:159
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Fucosidosis
Spasticity, Vascular skin abnormality, Abnormal pyramidal sign, Acrocyanosis, Spastic tetraplegia ORPHA:349
Choreoacanthocytosis
Blepharospasm, Poor motor coordination, Involuntary movements, Resting tremor, Lateral ventricle ... ORPHA:2388
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis, Ataxia ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis, Ataxia ORPHA:98914
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Prader-Willi Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:176270
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Brain abscess, Palmar telangiectasia, Tongue telangiectasia, Nail bed... OMIM:600376
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Acrocyanosis ORPHA:1867
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Interstitial pneumonitis, Cyanosis, Nonspecific interstitial pneumonia, Hypo... OMIM:610913
Aicardi-Goutières Syndrome
Spasticity, Spastic paraparesis, Ventriculomegaly, Extrapyramidal muscular rigidity, Cutis marmor... ORPHA:51
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia ORPHA:275761
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Telangiectasia, Hereditary Hemorrhagic, Type 1
Brain abscess, Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyano... OMIM:187300
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Supranuclear Palsy, Progressive, 2
Postural tremor, Retrocollis, Rigidity, Parkinsonism, Bradykinesia, Eyelid apraxia OMIM:609454
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy, Truncus arteriosus OMIM:617478
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, M... ORPHA:47
Autoinflammation With Infantile Enterocolitis
Meningitis, Enterocolitis, Skin rash, Urticaria OMIM:616050
Progressive Multifocal Leukoencephalopathy
Gait ataxia, Hemiplegia/hemiparesis, Dysmetria, Parkinsonism, Weakness due to upper motor neuron ... ORPHA:217260
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Conjunctival telangiectasia, Palate... OMIM:610655
Mitochondrial Complex I Deficiency, Nuclear Type 1
Tongue fasciculations, Spasticity, Cyanosis, Death in infancy, Babinski sign, Lethargy, Ataxia OMIM:252010
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Supranuclear Palsy, Progressive, 1
Retrocollis, Tremor, Rigidity, Parkinsonism, Bradykinesia, Eyelid apraxia OMIM:601104
Fusariosis
Pneumonia, Unusual CNS infection, Invasive fungal infection, Keratitis, Brain abscess, Fasciitis,... ORPHA:228119
Unilateral Polymicrogyria
Involuntary movements, Pseudobulbar paralysis, Myoclonus, Cyanosis, Hemiparesis, Spastic tetraple... ORPHA:268943
Aplasia Cutis-Myopia Syndrome
Meningitis ORPHA:1117
Ethylene Glycol Poisoning
Myoclonus, Cyanosis, Gastritis, Ataxia, Slurred speech ORPHA:31826
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79259
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Complete Atrioventricular Septal Defect
Cyanosis, Lethargy, Recurrent pneumonia ORPHA:1329
Absence Of The Pulmonary Artery
Recurrent pneumonia, Bronchiectasis, Cyanosis, Truncus arteriosus, Hypocapnia, Recurrent respirat... ORPHA:980
Follicular Lymphoma
Meningitis ORPHA:545
Parkes Weber Syndrome
Paraplegia, Cerebral arteriovenous malformation, Prominent superficial blood vessels ORPHA:90307
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Myositis, Hashimoto thyroiditis, Acrocyanosis ORPHA:589
Cinca Syndrome
Urticaria, Inflammatory abnormality of the eye, Meningitis, Retrobulbar optic neuritis, Purpura, ... ORPHA:1451
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent infections, Pneumonia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hep... ORPHA:37042
Cinca Syndrome
Meningitis, Skin rash, Arthritis, Uveitis OMIM:607115
Arachnoiditis
Meningitis, Hydrocephalus ORPHA:137817
Histiocytoid Cardiomyopathy
Hydrocephalus, Hemiplegia, Lethargy, Cyanosis ORPHA:137675
Congenital Syphilis
Pneumonia, Keratitis, Petechiae, Synovitis, Prolonged neonatal jaundice, Pancreatitis, Hydrocepha... ORPHA:499009
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Congenital Tracheomalacia
Pneumonia, Recurrent upper respiratory tract infections, Cyanosis, Patent ductus arteriosus, Bron... ORPHA:95430
Angiostrongyliasis
Meningitis, Ventriculomegaly, Unusual CNS infection ORPHA:74
Criss-Cross Heart
Cyanosis ORPHA:1461
Gorham-Stout Disease
Meningitis, Torticollis, Osteomyelitis ORPHA:73
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infec... ORPHA:169090
Chronic Granulomatous Disease
Eczematoid dermatitis, Otitis media, Sinusitis, Inflammatory abnormality of the eye, Meningitis, ... ORPHA:379
Rat-Bite Fever
Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan... ORPHA:31205
Esophageal Atresia
Vocal cord paresis, Esophagitis, Cyanosis, Hypertonia, Recurrent respiratory infections ORPHA:1199
Tarp Syndrome
Athetoid cerebral palsy, Cyanosis ORPHA:2886
Congenital Tricuspid Valve Dysplasia
Cyanosis, Hypoxemia ORPHA:555874
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Incoordination, Recurrent infections due to aspiration, Acrocyanosis OMIM:223900
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Recurrent respiratory infections, Patent ductus arteriosus, Aortopulmonary window ORPHA:99050
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Meckel Syndrome 14
Cyanosis OMIM:619879
Immunodeficiency 68
Septic arthritis, Recurrent meningitis, Recurrent skin infections, Lymphadenitis OMIM:612260
Double Outlet Left Ventricle
Cyanosis, Patent ductus arteriosus ORPHA:3427
Mixed Connective Tissue Disease
Skin rash, Myositis, Gastritis, Keratoconjunctivitis sicca, Arthritis, Myocarditis, Meningitis, P... ORPHA:809
Phace Syndrome
Dandy-Walker malformation, Cerebral arteriovenous malformation, Hemiplegia/hemiparesis ORPHA:42775
Familial Dysautonomia
Recurrent respiratory infections, Acrocyanosis, Ataxia ORPHA:1764
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Hereditary Hemorrhagic Telangiectasia
Spontaneous hematomas, Tongue telangiectasia, Nasal mucosa telangiectasia, Cholecystitis, Telangi... ORPHA:774
Eisenmenger Syndrome
Bacterial endocarditis, Brain abscess, Cyanosis, Lethargy, Aortopulmonary window, Hypoxemia, Pate... ORPHA:97214
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Paro... ORPHA:51636
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus, Cyanosis OMIM:261740
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Cyanosis, Recurrent bacterial infections ORPHA:99104
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Cyanosis, Aqueductal stenosis, Patent ductus arteriosus OMIM:306955
Coccidioidomycosis
Pneumonia, Unusual CNS infection, Folliculitis, Invasive fungal infection, Morbilliform rash, Ost... ORPHA:228123
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Telangiectasia, Cerebral arteriovenous malformation OMIM:175050
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Cyanosis ORPHA:99106
Cardiogenic Shock
Cyanosis, Hypoxemia ORPHA:97292
Pulmonary Alveolar Microlithiasis
Cyanosis, Oxygen desaturation on exertion, Hypoxemia, Bronchiectasis ORPHA:60025
Tick-Borne Encephalitis
Tongue fasciculations, Unusual CNS infection, Myelitis, Incoordination, Speech apraxia, Tremor, H... ORPHA:297
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hy... OMIM:309000
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Aortic Arch Interruption
Cyanosis, Aortopulmonary window, Patent ductus arteriosus, Truncus arteriosus ORPHA:2299
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Cyanosis, Recurrent bacterial infections ORPHA:99103
Immunodeficiency 67
Septic arthritis, Meningitis, Recurrent streptococcal infections, Recurrent staphylococcal infect... OMIM:607676
Pitt-Hopkins Syndrome
Acrocyanosis, Esophagitis, Gait ataxia, Ataxia ORPHA:2896
Poems Syndrome
Acrocyanosis, Plethora ORPHA:2905
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis, Spontaneous h... ORPHA:906
Trichorhinophalangeal Syndrome, Type Ii
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Chroni... OMIM:150230
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Acute Transverse Myelitis
Spasticity, Severe viral infection, Invasive parasitic infection, Paraplegia, Disseminated nontub... ORPHA:139417
Hydranencephaly
Ventriculomegaly, Opisthotonus, Lethargy, Meningitis, Spastic diplegia ORPHA:2177
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Dermatomyositis
Erythema, Shawl sign, Heliotrope rash, V-sign, Skin rash, Cutaneous photosensitivity, Myositis, F... ORPHA:221
Trichinellosis
Hemiplegia, Skin rash, Hemiparesis, Babinski sign, Lethargy, Conjunctivitis, Meningitis ORPHA:863
Giant Cell Arteritis
Ataxia, Arthritis, Recurrent pharyngitis, Meningitis, Pericarditis ORPHA:397
Juvenile Polyposis Syndrome
Mucosal telangiectasiae, Cerebral arteriovenous malformation, Brain abscess ORPHA:2929
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Congenital Tracheal Stenosis
Cyanosis, Patent ductus arteriosus ORPHA:141127
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Recurrent pneumonia, Skin rash, Colonic eosinophilia, Vascul... OMIM:617718
Granulomatosis With Polyangiitis
Hemiplegia, Otitis media, Skin rash, Increased inflammatory response, Prostatitis, Pancreatitis, ... ORPHA:900
Primary Sjögren Syndrome
Arteritis, Parotitis, Chronic active hepatitis, Chorea, Cutis marmorata, Lymphocytic interstitial... ORPHA:289390
Leukocyte Adhesion Deficiency Type Ii
Recurrent pneumonia, Keratitis, Recurrent urinary tract infections, Recurrent otitis media, Recur... ORPHA:99843
Familial Mediterranean Fever
Erythema, Erysipelas, Skin rash, Orchitis, Peritonitis, Pancreatitis, Arthritis, Osteoarthritis, ... ORPHA:342
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Hutchinson-Gilford Progeria Syndrome
Premature skin wrinkling, Generalized abnormality of skin, Cyanosis, Prominent superficial blood ... ORPHA:740
Truncus Arteriosus
Cyanosis, Patent ductus arteriosus, Truncus arteriosus ORPHA:3384
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Brain abscess, Severe viral infection, Hemiparesis, Severe infection, Pancreatitis, My... ORPHA:544482
Cryptococcosis
Pneumonia, Osteomyelitis, Peritonitis, Prostatitis, Hydrocephalus, Meningitis ORPHA:1546
Kawasaki Disease
Hepatitis, Conjunctivitis, Skin rash, Cholecystitis, Jaundice, Palmoplantar erythema, Arthritis, ... ORPHA:2331
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Glomerulonephritis, Meningitis, Recurrent skin infections, Va... ORPHA:2968
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Recurrent upper respiratory tract infections, Recurrent pneu... OMIM:301000
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Orchitis, Peritonitis, Arthritis, Meningitis, Pericarditis OMIM:249100
Pituitary Dermoid And Epidermoid Cysts
Abnormal central motor function, Meningitis ORPHA:91351
Igg4-Related Kidney Disease
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, Int... ORPHA:449395
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Meningitis, Recu... OMIM:600802
Kikuchi-Fujimoto Disease
Erythema, Malar rash, Skin rash, Pustule, Vasculitis in the skin, Ataxia, Myocarditis, Meningitis... ORPHA:50918
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis ORPHA:416
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Osteoarthritis, Prematurel... ORPHA:287
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis, Patent ductus arteriosus ORPHA:216694
Coffin-Lowry Syndrome
Ventriculomegaly, Acrocyanosis, Cutis marmorata OMIM:303600
Plague
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Enterocolitis, Carbun... ORPHA:707
Goodpasture Syndrome
Cyanosis, Glomerulonephritis OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis, Recurrent respiratory infections, Patent ductus arteriosus ORPHA:99125
Leptospirosis
Uveitis, Hepatitis, Skin rash, Optic neuritis, Jaundice, Meningitis, Pericarditis ORPHA:509
Generalized Arterial Calcification Of Infancy
Cyanosis ORPHA:51608
Hypermobile Ehlers-Danlos Syndrome
Keratoconjunctivitis sicca, Acrocyanosis, Bruising susceptibility, Osteoarthritis ORPHA:285
Sacral Defect With Anterior Meningocele
Meningitis, Hydrocephalus OMIM:600145
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:225790

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 Flvcr2

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 Flvcr2.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Structural and molecular basis of choline uptake into the brain by FLVCR2. Nature (May 2024) Flvcr2tm1c(EUCOMM)Hmgu 38693257
MFSD7C switches mitochondrial ATP synthesis to thermogenesis in response to heme. Nature communications (September 2020) Flvcr2tm1c(EUCOMM)Hmgu Flvcr2tm1a(EUCOMM)Hmgu PMC7515921
Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome. The Journal of clinical investigation (August 2020) Flvcr2tm1a(EUCOMM)Hmgu 32369449
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Flvcr2tm1a(EUCOMM)Hmgu PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Flvcr2tm1a(EUCOMM)Hmgu Flvcr2tm1a(EUCOMM)Hmgu PMC6671969

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Flvcr2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Flvcr2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Flvcr2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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