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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
preweaning lethality, complete penetrance Flvcr2tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
increased circulating cholesterol level Flvcr2tm1a(EUCOMM)Hmgu HET Early adult 1.54×10-05
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

Download data as:  TSV  XLS

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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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1 Images

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Ear epidermis immunophenotyping

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3 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
Hydrocephalus, Ventriculomegaly, 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, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Hemiparesis, Lethargy, Herpes simplex encephalitis, Meningitis OMIM:617900
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Babinski sign, Parkinsonism with fa... OMIM:128230
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... ORPHA:71277
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Ataxia, Chorea, Bradykinesia, Death in childhood, Lethargy OMIM:618683
L-2-Hydroxyglutaric Aciduria
Abnormality of extrapyramidal motor function, Infectious encephalitis, Spastic tetraparesis ORPHA:79314
Spinocerebellar Ataxia Type 20
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... ORPHA:98762
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Lethargy, Herpes simplex encephalitis, Meningitis OMIM:613002
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Bradykinesia, Apr... ORPHA:240103
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia ORPHA:210571
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Crigler-Najjar Syndrome
Lethargy, Jaundice, Infectious encephalitis ORPHA:205
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... OMIM:613135
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Later... ORPHA:363654
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:613643
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Bradykinesia, Apraxia, Spasticity, Action ... OMIM:300423
Autosomal Dominant Spastic Paraplegia Type 3
Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle clonus, Lower limb hypertonia... ORPHA:100984
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Juvenile Huntington Disease
Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia, Myoclonus, Ve... ORPHA:248111
Dystonia 16
Postural tremor, Involuntary movements, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Retr... OMIM:612067
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Parkinsonism with favo... ORPHA:314632
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:600116
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation ORPHA:306669
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Upper limb s... OMIM:618418
Spastic Paraplegia 78, Autosomal Recessive
Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia... OMIM:617225
Parkinson Disease 6, Autosomal Recessive Early-Onset
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:605909
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Spasticity ORPHA:521406
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... ORPHA:101150
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Dysdiadochokinesis, Slurred speech, Bradykinesia OMIM:609161
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia OMIM:618824
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Spinocerebellar Ataxia 17
Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Bradykinesia, Myoclo... OMIM:607136
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Bradykinesia, Abnormal pyramidal sign, Spastic gait, Spastic tetraparesis OMIM:619052
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Spasticity, L... OMIM:615528
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Bradykinesia OMIM:618317
Parkinson Disease 22, Autosomal Dominant
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:616710
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Resting tremor, Bradykinesia, Parkinsonism ORPHA:306692
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia ORPHA:228169
Dystonia 12
Tremor, Torticollis, Bradykinesia, Parkinsonism OMIM:128235
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia ORPHA:306686
Zika Virus Disease
Miscarriage, Maculopapular exanthema, Skin rash, Meningitis, Arthritis, Conjunctivitis, Myelitis,... ORPHA:448237
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia ORPHA:71517
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Phosphoserine Aminotransferase Deficiency
Death in infancy, Hypertonia, Cyanotic episode, Myoclonus OMIM:610992
Nipah Virus Disease
Tremor, Recurrent pharyngitis, Infectious encephalitis, Myoclonus ORPHA:99825
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Huntington Disease
Rigidity, Chorea, Bradykinesia, Gait ataxia OMIM:143100
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia... ORPHA:157941
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Limb myoclonus OMIM:619862
Spinocerebellar Ataxia 2
Dilated fourth ventricle, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetr... OMIM:183090
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Typhoid
Ataxia, Skin rash, Tremor, Hypertonia, Lethargy, Infectious encephalitis ORPHA:99745
Dravet Syndrome
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... ORPHA:33069
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency 37
Colitis, Infectious encephalitis, Recurrent infections OMIM:616098
Infantile Dystonia-Parkinsonism
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp... ORPHA:238455
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
Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad... ORPHA:454887
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, Gait apraxia, Dysmetr... OMIM:615157
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Recurrent respiratory infections, Babinski sign OMIM:619063
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia ORPHA:240085
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Bradykinesia, Ataxia, Rigidity OMIM:617836
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Parkinsonism, Rigidity, Bradykinesia, Apraxia, Spasticity OMIM:221820
Huntington Disease-Like 2
Rigidity, Chorea, Bradykinesia, Action tremor OMIM:606438
C1Q Deficiency 3
Discoid lupus rash, Recurrent bacterial meningitis OMIM:620322
Neurocutaneous Melanocytosis
Death in infancy, Hemiparesis, Dandy-Walker malformation, Infectious encephalitis, Ventriculomegaly ORPHA:2481
Leber Optic Atrophy And Dystonia
Bradykinesia, Athetosis, Spasticity, Upper motor neuron dysfunction OMIM:500001
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Limb hypertonia OMIM:261640
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dilated... OMIM:619725
Scrub Typhus
Anterior uveitis, Skin rash, Tremor, Myocarditis, Lethargy, Meningitis, Infectious encephalitis ORPHA:83317
Complement Component 8 Deficiency, Type I
Meningitis OMIM:613790
Machado-Joseph Disease
Dilated fourth ventricle, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski... OMIM:109150
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Bradykinesia, Hypertonia, Parkinsonism, Limb hypertonia OMIM:617384
Lopes-Maciel-Rodan Syndrome
Tremor, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Spasticity OMIM:617435
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Bradykinesia, Spastic tetraplegia, Spastic paraparesis OMIM:615643
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Recurrent infections, Recurrent otitis media, Mollus... OMIM:618982
Cerebral Visual Impairment
Cerebral palsy, Hydrocephalus, Unusual CNS infection, Clumsiness, Oculomotor apraxia, Meningitis,... ORPHA:447788
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
Spinocerebellar Ataxia 10
Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Brad... OMIM:603516
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Cogwheel rigidity, Bradykinesia, Optic neuritis, Parkinsonism with favorable response to ... ORPHA:254886
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5
Herpes simplex encephalitis OMIM:614849
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Lateral v... OMIM:617854
Pfapa Syndrome
Recurrent pharyngitis, Infectious encephalitis, Arthritis ORPHA:42642
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Ataxia, Dysmetria, Gait ataxia, Hemiparesis, Bradykinesia, Truncal ataxia, Episod... OMIM:601338
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Perching Syndrome
Cyanosis OMIM:617055
Avian Influenza
Miscarriage, Pneumonia, Meningitis, Hepatitis, Hypoxemia, Conjunctivitis, Infectious encephalitis... ORPHA:454836
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Unusual CNS infection, Bronchiectasis, Hepatitis,... ORPHA:1163
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Hyperk... ORPHA:13
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Recurrent pharyngitis, Fulminant hepatitis, Severe Epstein Barr... OMIM:308240
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spastic tetraple... OMIM:300055
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Aspiration pneumonia... ORPHA:53351
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Recurrent urinary tract infections, Pneumonia, Osteomyelitis, Ski... ORPHA:36234
Listeriosis
Tremor, Conjunctivitis, Cholecystitis, Meningitis, Infectious encephalitis, Brain abscess, Unusua... ORPHA:533
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Blepharospasm, Bradykinesia, Parkinsonism with favorab... OMIM:606324
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Reynolds Syndrome
Telangiectasia of the skin, Skin rash, Jaundice, Arthritis, Keratoconjunctivitis sicca, Generaliz... ORPHA:779
Meningococcal Meningitis
Skin rash, Lethargy, Infectious encephalitis, Petechiae, Purpura ORPHA:33475
Spinocerebellar Ataxia Type 1
Postural tremor, Chorea, Slurred speech, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:98755
Multiple System Atrophy
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... ORPHA:102
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Myocarditis, Angioedema, Erythema, Hepatitis, Thyroiditis, Tubulointerstitial... ORPHA:139402
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia ORPHA:36387
Hartnup Disease
Skin rash, Cutaneous photosensitivity, Ataxia, Infectious encephalitis ORPHA:2116
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Tremor, Rigidity, Bradykinesia, Limb hypertonia ORPHA:70594
Gm1 Gangliosidosis
Recurrent respiratory infections, Ataxia, Tremor, Patent ductus arteriosus, Abnormality of extrap... ORPHA:354
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Huntington Disease
Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Bradykinesia, Poor fi... ORPHA:399
Legionnaires Disease
Pericarditis, Ataxia, Recurrent pharyngitis, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infe... ORPHA:549
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... ORPHA:391411
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Skin rash, Jaundice, Colitis, Erythroderma, Ecchymosis, Bruising suscept... ORPHA:540
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykinesia, Hype... OMIM:618877
Whipple Disease
Myositis, Pericarditis, Ataxia, Myocarditis, Hydrocephalus, Abnormal pyramidal sign, Uveitis, Art... ORPHA:3452
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... ORPHA:98933
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... OMIM:606159
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia OMIM:619911
Multiple System Atrophy, Cerebellar Type
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Limb ataxia, Ga... ORPHA:227510
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Spastic paraparesis, Spasticity... ORPHA:289560
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Recurrent upper respiratory tract infections... ORPHA:225147
Lyme Disease
Arthritis, Meningitis, Infectious encephalitis, Uveitis ORPHA:91546
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Gait ataxia, Bradykinesi... OMIM:300623
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Infectious encephalitis ORPHA:1194
Hemophagocytic Lymphohistiocytosis, Familial, 1
Ataxia, Jaundice, Tetraplegia, Hypertonia, Hemiplegia, Meningitis, Infectious encephalitis OMIM:267700
Cln3 Disease
Bradykinesia, Extrapyramidal muscular rigidity, Ataxia, Acne ORPHA:228346
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Congenital Enterovirus Infection
Skin rash, Myocarditis, Hepatitis, Meningitis, Infectious encephalitis, Ventriculomegaly ORPHA:292
Adult-Onset Nemaline Myopathy
Bradykinesia, Poor fine motor coordination ORPHA:171442
Hemophagocytic Lymphohistiocytosis, Familial, 2
Ataxia, Skin rash, Jaundice, Tetraplegia, Hypertonia, Hemiplegia, Meningitis, Infectious encephal... OMIM:603553
Hereditary Methemoglobinemia
Cyanosis, Spastic tetraplegia, Athetosis, Hypertonia, Spasticity ORPHA:621
Rift Valley Fever
Miscarriage, Skin rash, Paralysis, Paraparesis, Jaundice, Severe viral infection, Hepatitis, Uvei... ORPHA:319251
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Benign Familial Infantile Epilepsy
Hypertonia, Limb myoclonus, Cyanosis ORPHA:306
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... OMIM:137440
Laron Syndrome
Hypercholesterolemia ORPHA:633
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Japanese Encephalitis
Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Opisthotonus, Choreoathetosis,... ORPHA:79139
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Hypermanganesemia With Dystonia 2
Parkinsonism, Tremor, Babinski sign, Scissor gait, Clumsiness, Opisthotonus, Ankle clonus, Bradyk... OMIM:617013
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Chronic hepatitis, Hypoxemia, Ankle clonus, Recurrent bacterial infections, Sclerosing... OMIM:308230
Hypermanganesemia With Dystonia 1
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality of extrap... OMIM:613280
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Pustule, Hemiplegia/hemiparesis, Angioedema, Erythema, Orchitis, Urticar... ORPHA:761
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Childhood-Onset Nemaline Myopathy
Bradykinesia, Poor fine motor coordination, Clumsiness ORPHA:171439
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... ORPHA:97355
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... OMIM:311510
Encephalopathy, Ethylmalonic
Death in infancy, Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Acrocyanos... OMIM:602473
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Bradykinesia, Truncal ataxia, In... OMIM:258450
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradyki... ORPHA:98808
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia ORPHA:79237
Breath-Holding Spells
Cyanosis OMIM:607578
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Enteroviral hepatitis, ... OMIM:300755
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Lymphoproliferative Syndrome 2
Severe varicella zoster infection, Recurrent pneumonia, EBV encephalitis, Uveitis, Persistent EBV... OMIM:615122
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Increased VLDL ... OMIM:144650
Poliomyelitis
Paralysis, Paraparesis, Meningitis, Hyperkinetic movements, Fasciculations, Infectious encephalit... ORPHA:2912
New-Onset Refractory Status Epilepticus
Infectious encephalitis ORPHA:363558
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis, Recurrent aphthous stomatitis OMIM:614850
Alexander Disease
Ataxia, Clonus, Tremor, Aqueductal stenosis, Chorea, Hydrocephalus, Abnormal pyramidal sign, Tetr... ORPHA:58
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Slowed slurred speech OMIM:619827
Acute Disseminated Encephalomyelitis
Viral hepatitis, Ataxia, Involuntary movements, Severe parainfluenza infection, Disseminated vira... ORPHA:83597
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowed slurred speech... ORPHA:240071
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Parkinsonism ORPHA:412066
Neonatal Alloimmune Neutropenia
Miscarriage, Pneumonia, Severe infection, Jaundice, Meningitis ORPHA:464370
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Unusual infection, Meningitis, M... ORPHA:781
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Spastic tetraparesis, Lateral ventricle dilatation, Hypertonia, Myoclonus, Cyanotic episode ORPHA:284417
American Trypanosomiasis
Skin rash, Myocarditis, Infectious encephalitis ORPHA:3386
Postencephalitic Parkinsonism
Resting tremor, Involuntary movements, Rigidity, Babinski sign, Abnormal pyramidal sign, Cogwheel... ORPHA:97349
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Laryngeal Abductor Paralysis
Cyanosis, Vocal cord paralysis OMIM:150260
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... ORPHA:412
Manganese Poisoning
Postural tremor, Cogwheel rigidity, Bradykinesia, Hypertonia, Abnormality of extrapyramidal motor... ORPHA:306682
Microsporidiosis
Brain abscess, Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenit... ORPHA:2552
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... ORPHA:466722
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia ORPHA:240094
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Spinocerebellar Ataxia Type 13
Torticollis, Limb ataxia, Titubation, Clumsiness, Gait ataxia, Bradykinesia, Myoclonus ORPHA:98768
Ethylmalonic Encephalopathy
Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Acrocyanosis, Pete... ORPHA:51188
Nocardiosis
Brain abscess, Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Meningitis, Seve... ORPHA:31204
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Patent ductus arteriosus, Opisthotonus, Hypertonia, Recurrent otitis media ORPHA:3304
Spinocerebellar Ataxia Type 8
Ataxia, Rigidity, Limb ataxia, Gait ataxia, Spastic dysarthria, Bradykinesia, Spasticity ORPHA:98760
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Spastici... ORPHA:171695
Perry Syndrome
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:168605
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Limb myoclonus, Clonus ORPHA:1949
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Neuroferritinopathy
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk... ORPHA:157846
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ... OMIM:612953
Brucellosis
Anterior uveitis, Pericarditis, Osteomyelitis, Miscarriage, Pneumonia, Glomerulonephritis, Orchit... ORPHA:1304
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Ataxia, Acne, Orchitis, Retrobulbar opti... ORPHA:117
Incontinentia Pigmenti
Telangiectasia of the skin, Skin rash, Keratitis, Hemiplegia/hemiparesis, Erythema, Uveitis, Spas... ORPHA:464
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Cyanosis, Opisthotonus OMIM:250800
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Chiari Malformation Type Ii
Hydrocephalus, Cyanosis, Ataxia, Opisthotonus OMIM:207950
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Zygomycosis
Brain abscess, Fasciitis, Sinusitis, Unusual skin infection, Pericarditis, Gastritis, Pustule, In... ORPHA:73263
Complement Component 4B Deficiency
Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin... OMIM:614379
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Cyanosis, Pneumonia, Hypoxemia OMIM:610910
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections OMIM:263000
Hsd10 Disease, Infantile Type
Cyanosis, Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Hyperkineti... ORPHA:391428
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Death in infancy, Recurrent urinary tract infections, Spastic paraplegia, Infectious encephalitis ORPHA:847
Primary Progressive Freezing Gait
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Frequent falls ORPHA:75567
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Parkinsonism, Rigidity, Slurred speech, Hand tremor, Gait ataxia, Bradykinesia, P... OMIM:157640
Neurodegeneration With Brain Iron Accumulation 2B
Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Hypertonia, Spas... OMIM:610217
Congenital Heart Block
Patent ductus arteriosus, Cyanosis ORPHA:60041
Tricuspid Atresia
Cyanosis ORPHA:1209
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:168600
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Ataxia, Pneumonia, Pustule, Hemiparesis, Lethargy, Infectious ... ORPHA:68
Buerger Disease
Acrocyanosis ORPHA:36258
Immunodeficiency 59 And Hypoglycemia
Recurrent skin infections, Herpes simplex encephalitis, Recurrent upper respiratory tract infecti... OMIM:233600
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Recurrent herpes, Inflammatory abnormality of the skin, Eczema,... ORPHA:391487
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Conjunctivitis, Otit... OMIM:601457
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Ataxia, Opisthotonus, Choreoathetosis, Gait ataxia, Ventriculomegaly, Limb hypertonia OMIM:619580
Chikungunya
Maculopapular exanthema, Skin rash, Erythema nodosum, Erythema, Crusting erythematous dermatitis,... ORPHA:324625
Progressive Supranuclear Palsy
Tremor, Rigidity, Blepharospasm, Bradykinesia ORPHA:683
Scedosporiosis
Unusual skin infection, Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, ... ORPHA:449280
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Myoclonus OMIM:168601
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis, Pneumonia ORPHA:70587
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Hyperimmunoglobulinemia D With Periodic Fever
Ataxia, Peritonitis, Erythema, Urticaria, Arthritis, Recurrent aphthous stomatitis, Acrocyanosis,... ORPHA:343
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Rigidity, Jaundice, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesi... ORPHA:309854
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... OMIM:613500
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic tinea infection, Chronic oral candidiasis, Onychomycosis, Deep dermatophytosis, Meningitis OMIM:212050
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Ataxia, Tremor, Rigidity, Gait ataxia, Cogwheel rigidity, Bradykinesia, Hypertoni... ORPHA:254892
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage, Opisthotonus ORPHA:335
Young-Onset Parkinson Disease
Tremor, Spasticity, Rigidity, Bradykinesia ORPHA:2828
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... ORPHA:411602
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Immunodeficiency 66
Pustule, Meningitis, Recurrent skin infections OMIM:618847
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Recurrent si... OMIM:240500
Selective Igm Deficiency
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Eosinophilic Fasciitis
Arthritis, Fasciitis, Acrocyanosis, Myositis ORPHA:3165
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Truncal ataxia, Intention tremor OMIM:614407
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Congenital Pulmonary Lymphangiectasia
Cyanosis ORPHA:2414
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Intention tremor ORPHA:93256
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Laryngotracheal Angioma
Cyanosis ORPHA:137935
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Lateral ventricle dilatation, Cyanosis, Ventriculomegaly ORPHA:488627
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:615530
Cysticercosis
Iridocyclitis, Ataxia, Infectious encephalitis, Upper motor neuron dysfunction ORPHA:1560
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Aicardi-Goutieres Syndrome 1
Chilblains, Erythema, Abnormality of extrapyramidal motor function, Prolonged neonatal jaundice, ... OMIM:225750
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Cyanosis ORPHA:2004
Sepsis In Premature Infants
Cyanosis, Disseminated viral infection, Jaundice, Severe infection, Enterocolitis, Meningitis, Pe... ORPHA:90051
Rett Syndrome
Bradykinesia, Cholecystitis, Limb apraxia ORPHA:778
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Patent ductus arteriosus, Cyanosis ORPHA:860
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, C... OMIM:234200
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Babinski sign, Spastic tetraparesis OMIM:614924
Primary Pulmonary Hypoplasia
Hypoxemia, Recurrent respiratory infections, Cyanosis ORPHA:2257
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:264580
Pulmonary Arteriovenous Malformation
Brain abscess, Cyanosis, Telangiectasia, Hypoxemia, Recurrent abscess formation, Bacterial endoca... ORPHA:2038
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... ORPHA:306674
Immunodeficiency 46
Meningitis, Recurrent sinopulmonary infections, Conjunctivitis, Chronic oral candidiasis OMIM:616740
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Inflammatory abnormality of the eye, Conju... ORPHA:3392
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Cutis marmorata, Skin rash, Hemiplegia/hemi... ORPHA:183
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Cyanosis, Ataxia, Hypertonia, Myoclonus, Death in childhood, Recurrent lower re... OMIM:618426
Tetrasomy 5P
Recurrent respiratory infections, Hydrocephalus, Cyanosis ORPHA:3309
Asbestos Intoxication
Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Death in infancy, Cyanosis OMIM:265120
Postinfectious Vasculitis
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B... ORPHA:48435
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Cerebral palsy, Ataxia, Skin rash, Hemiplegia/hemiparesis, Angioedema, Uveitis, Inf... ORPHA:36412
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:151660
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent lower respiratory tract infections, Cyanosis, Infectious encephalitis, Recurrent upper ... ORPHA:293987
Acute Interstitial Pneumonia
Hypoxemia, Cyanosis, Bronchiectasis ORPHA:79126
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Sinusitis,... ORPHA:83471
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Choanal Atresia
Recurrent respiratory infections, Cyanosis, Chronic sinusitis ORPHA:137914
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Cyanosis, Nonspecific interstitial pneumonia, Hypoxemia, Neonatal death OMIM:610921
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Vascular skin abnormality, Cerebral arteriovenous malformation, Telangiectasia ORPHA:137667
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Meningitis, Recurrent sinusitis OMIM:619707
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Waardenburg Syndrome Type 3
Acrocyanosis, Spastic paraplegia ORPHA:896
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Recurrent bacterial meningitis, Recurrent pneumonia, Recurrent fungal infec... OMIM:300400
Acquired Purpura Fulminans
Acrocyanosis, Skin rash, Macular purpura ORPHA:49566
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis ORPHA:444013
Double Outlet Right Ventricle
Truncus arteriosus, Cyanosis ORPHA:3426
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Cyanosis ORPHA:159
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
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
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Brain abscess, Cyanosis, Nail bed telangiectasia, Cerebral arteriove... OMIM:600376
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Aicardi-Goutières Syndrome
Myositis, Extrapyramidal muscular rigidity, Cutis marmorata, Chilblains, Tremor, Hemiplegia/hemip... ORPHA:51
Fucosidosis
Abnormal pyramidal sign, Spastic tetraplegia, Spasticity, Acrocyanosis, Vascular skin abnormality ORPHA:349
Choreoacanthocytosis
Resting tremor, Self-mutilation of tongue and lips due to involuntary movements, Poor motor coord... ORPHA:2388
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Truncus arteriosus, Cyanosis OMIM:617478
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Bradykinesia, Retrocollis OMIM:609454
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia ORPHA:275761
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Brain abscess, Cyanosis, Telangiectasia of the skin, Nail bed telang... OMIM:187300
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Nonspecific interstitial pneumonia, Recurrent pneumonia, Bronchiectasis, Hypoxemia, Int... OMIM:610913
Autoinflammation With Infantile Enterocolitis
Urticaria, Meningitis, Enterocolitis, Skin rash OMIM:616050
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Cerebral arteriovenous malformation, Lip telangiectasia, T... OMIM:610655
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Recurrent bacterial meningitis, Recurrent bacterial upper respiratory tract infections... ORPHA:70593
Progressive Multifocal Leukoencephalopathy
Weakness due to upper motor neuron dysfunction, Parkinsonism, Hemiplegia/hemiparesis, Dysmetria, ... ORPHA:217260
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Ataxia, Babinski sign, Tongue fasciculations, Lethargy, Spasticity OMIM:252010
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Retrocollis OMIM:601104
Ethylene Glycol Poisoning
Cyanosis, Ataxia, Gastritis, Slurred speech, Myoclonus ORPHA:31826
Adult-Onset Still Disease
Pericarditis, Skin rash, Recurrent pharyngitis, Myocarditis, Erythema, Hepatitis, Arthritis, Meni... ORPHA:829
Fusariosis
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,... ORPHA:228119
Aplasia Cutis-Myopia Syndrome
Meningitis ORPHA:1117
Complete Atrioventricular Septal Defect
Lethargy, Cyanosis, Recurrent pneumonia ORPHA:1329
Unilateral Polymicrogyria
Cyanosis, Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, ... ORPHA:268943
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia ORPHA:79259
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Cyanosis, Patent ductus arteriosus, Recurrent pneumonia, Bronch... ORPHA:980
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Myasthenia Gravis
Myositis, Hepatitis, Rheumatoid arthritis, Acrocyanosis, Hashimoto thyroiditis ORPHA:589
Follicular Lymphoma
Meningitis ORPHA:545
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Tubulointerstitial nephritis, Colitis, Meningitis, Psoriasiform dermatitis, Hepatitis, ... ORPHA:37042
Parkes Weber Syndrome
Prominent superficial blood vessels, Paraplegia, Cerebral arteriovenous malformation ORPHA:90307
Cinca Syndrome
Retrobulbar optic neuritis, Uveitis, Urticaria, Inflammatory abnormality of the eye, Meningitis, ... ORPHA:1451
Arachnoiditis
Hydrocephalus, Meningitis ORPHA:137817
Cinca Syndrome
Skin rash, Arthritis, Meningitis, Uveitis OMIM:607115
Histiocytoid Cardiomyopathy
Hemiplegia, Lethargy, Hydrocephalus, Cyanosis ORPHA:137675
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial in... ORPHA:169090
Criss-Cross Heart
Cyanosis ORPHA:1461
Congenital Tracheomalacia
Cyanosis, Pneumonia, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Bron... ORPHA:95430
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Patent ductus arteriosus, Cyanosis, Aortopulmonary window ORPHA:99050
Tarp Syndrome
Athetoid cerebral palsy, Cyanosis ORPHA:2886
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Esophageal Atresia
Recurrent respiratory infections, Cyanosis, Hypertonia, Esophagitis, Vocal cord paresis ORPHA:1199
Angiostrongyliasis
Unusual CNS infection, Meningitis, Ventriculomegaly ORPHA:74
Chronic Granulomatous Disease
Recurrent respiratory infections, Sinusitis, Eczema, Inflammatory abnormality of the eye, Otitis ... ORPHA:379
Gorham-Stout Disease
Torticollis, Osteomyelitis, Meningitis ORPHA:73
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia ORPHA:534
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Double Outlet Left Ventricle
Patent ductus arteriosus, Cyanosis ORPHA:3427
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Cyanosis ORPHA:555874
Meckel Syndrome 14
Cyanosis OMIM:619879
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Acrocyanosis, Incoordination OMIM:223900
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis, Recurrent meningitis OMIM:612260
Phace Syndrome
Hemiplegia/hemiparesis, Dandy-Walker malformation, Cerebral arteriovenous malformation ORPHA:42775
Mixed Connective Tissue Disease
Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Arthritis, Keratoconjunctivitis sicca,... ORPHA:809
Eisenmenger Syndrome
Brain abscess, Cyanosis, Patent ductus arteriosus, Aortopulmonary window, Hypoxemia, Bacterial en... ORPHA:97214
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... ORPHA:51636
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... OMIM:309000
Familial Dysautonomia
Recurrent respiratory infections, Acrocyanosis, Ataxia ORPHA:1764
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Cyanosis, Pneumonia ORPHA:99104
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Patent ductus arteriosus, Cyanosis, Hydrocephalus OMIM:306955
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Coccidioidal meningitis, Erythema nodosum, Inv... ORPHA:228123
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus, Cyanosis OMIM:261740
Tick-Borne Encephalitis
Speech apraxia, Incoordination, Paralysis, Tremor, Unusual CNS infection, Hyperkinetic movements,... ORPHA:297
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Cyanosis ORPHA:99106
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation, Telangiectasia OMIM:175050
Pulmonary Alveolar Microlithiasis
Hypoxemia, Cyanosis, Bronchiectasis, Oxygen desaturation on exertion ORPHA:60025
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Aortic Arch Interruption
Patent ductus arteriosus, Cyanosis, Truncus arteriosus, Aortopulmonary window ORPHA:2299
Pitt-Hopkins Syndrome
Acrocyanosis, Ataxia, Esophagitis, Gait ataxia ORPHA:2896
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Recurrent respiratory infections, Cerebral arteriovenous malformation, Recurre... OMIM:150230
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Cyanosis, Pneumonia ORPHA:99103
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Sinusitis, Eczema, Keratitis, Urticaria, Spontaneous hematomas,... ORPHA:906
Acute Transverse Myelitis
Invasive parasitic infection, Paraparesis, Babinski sign, Severe viral infection, Paraplegia, Dis... ORPHA:139417
Trichinellosis
Skin rash, Babinski sign, Hemiparesis, Conjunctivitis, Hemiplegia, Lethargy, Meningitis ORPHA:863
Giant Cell Arteritis
Pericarditis, Ataxia, Recurrent pharyngitis, Arthritis, Meningitis ORPHA:397
Poems Syndrome
Acrocyanosis ORPHA:2905
Hydranencephaly
Spastic diplegia, Opisthotonus, Lethargy, Meningitis, Ventriculomegaly ORPHA:2177
Congenital Tracheal Stenosis
Patent ductus arteriosus, Cyanosis ORPHA:141127
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocarditis, Erythema... ORPHA:221
Kawasaki Disease
Pericarditis, Skin rash, Recurrent pharyngitis, Jaundice, Myocarditis, Hepatitis, Cheilitis, Arth... ORPHA:2331
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Recurrent infections, Inflammation of the large intestine, Vascul... OMIM:617718
Juvenile Polyposis Syndrome
Brain abscess, Cerebral arteriovenous malformation, Mucosal telangiectasiae ORPHA:2929
Granulomatosis With Polyangiitis
Recurrent respiratory infections, Pericarditis, Sinusitis, Skin rash, Increased inflammatory resp... ORPHA:900
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Cutis marmorata, Glomerulonephritis, Lymphocytic interstitial... ORPHA:289390
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Osteoarthritis, Erythema, Peritonitis, Erysipelas, Arthritis, ... ORPHA:342
Truncus Arteriosus
Patent ductus arteriosus, Cyanosis, Truncus arteriosus ORPHA:3384
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Osteoarthritis, Premature skin wrinkling, Generali... ORPHA:740
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Conjunctivitis, Ot... ORPHA:2968
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Pneumonia, Myocarditis, Severe infection, Severe viral infection, Hemiparesis, Sep... ORPHA:544482
Cryptococcosis
Osteomyelitis, Pneumonia, Meningitis, Peritonitis, Hydrocephalus, Prostatitis ORPHA:1546
Wiskott-Aldrich Syndrome
Recurrent herpes, Eczema, Recurrent upper respiratory tract infections, Recurrent pneumonia, Ulce... OMIM:301000
Pituitary Dermoid And Epidermoid Cysts
Abnormal central motor function, Meningitis ORPHA:91351
Familial Mediterranean Fever
Pericarditis, Orchitis, Peritonitis, Erysipelas, Arthritis, Crohn's disease, Meningitis OMIM:249100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent lower ... OMIM:600802
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Kikuchi-Fujimoto Disease
Ataxia, Skin rash, Pustule, Myocarditis, Erythema, Malar rash, Vasculitis in the skin, Cutaneous ... ORPHA:50918
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Osteoarthritis, Ecchymosis, Acrocyanosis, Fragil... ORPHA:287
Congenitally Corrected Transposition Of The Great Arteries
Patent ductus arteriosus, Cyanosis ORPHA:216694
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Prostatitis, Urinary bladder i... ORPHA:449395
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata, Ventriculomegaly OMIM:303600
Plague
Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Slurred speech, Enterocolitis, Endocardi... ORPHA:707
Goodpasture Syndrome
Cyanosis, Glomerulonephritis OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Patent ductus arteriosus, Cyanosis ORPHA:99125
Leptospirosis
Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Optic neuritis, Meningitis ORPHA:509
Generalized Arterial Calcification Of Infancy
Cyanosis ORPHA:51608
Sacral Defect With Anterior Meningocele
Hydrocephalus, Meningitis OMIM:600145
Hypermobile Ehlers-Danlos Syndrome
Keratoconjunctivitis sicca, Osteoarthritis, Acrocyanosis ORPHA:285
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, 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 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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

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

MGI Allele Allele Type Produced
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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