banner
Genes Phenotypes Help, News, Blog

Gene: Flvcr2 MGI:2384974

Log in to follow

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

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

Download thumbnail Download
DSS Histology

Images

8 Images

View images
Download thumbnail Download
Anti-nuclear antibody assay

Images

1 Images

View images
FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

3 Images

View images

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
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly 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
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:144250
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... OMIM:620058
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia OMIM:615863
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Abnormality of ext... OMIM:260300
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:615703
Parkinsonism With Spasticity, X-Linked
Spasticity, Parkinsonism, Cogwheel rigidity, Bradykinesia, Resting tremor, Babinski sign OMIM:300911
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy, Hemiparesis, Meningitis, Herpes simplex encephalitis OMIM:617900
Dystonia, Dopa-Responsive
Spasticity, Torticollis, Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic ... OMIM:128230
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Hemiparesis, Ataxia, Apraxia, Lethargy, Chorea, Myoclonus, Paralysis, Cyanosis, Hyper... ORPHA:71277
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Death in childhood, Ataxia, Chorea, Bradykinesia, Lethargy OMIM:618683
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... OMIM:619868
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy, Hemiparesis, Meningitis, Herpes simplex encephalitis OMIM:613002
L-2-Hydroxyglutaric Aciduria
Spastic tetraparesis, Infectious encephalitis, Abnormality of extrapyramidal motor function ORPHA:79314
Spinocerebellar Ataxia Type 20
Abnormal pyramidal sign, Kinetic tremor, Isometric tremor, Ataxia, Upper limb postural tremor, Ga... ORPHA:101110
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Parkinsonism, Ataxia, Postural tremor, Bradykinesia, Intention tremor, L... ORPHA:98762
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradyk... OMIM:607688
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Progressive Supranuclear Palsy-Corticobasal Syndrome
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Parkinsonism with favorable response to ... ORPHA:240103
Phosphoserine Aminotransferase Deficiency
Hypertonia, Cyanotic episode, Death in infancy, Myoclonus OMIM:610992
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Torticollis, Postural tremor, Bradykinesia ORPHA:210571
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Crigler-Najjar Syndrome
Infectious encephalitis, Jaundice, Lethargy ORPHA:205
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Immunodeficiency 31A
BCGitis, Recurrent mycobacterium avium complex infections, Recurrent viral infections, Herpes sim... OMIM:614892
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:613643
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Hypercholesterolemia, Increased C-peptide level OMIM:620211
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Cogwheel rigidity, Ankle clonus, Scissor gait, Lateral ventricle dilatation, Bradykin... ORPHA:363654
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Parkinsonism, Apraxia, Rigidity, Bradykinesia, Slurred speech, Action tremor, Babinsk... OMIM:300423
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Dysdiadochokinesis, Bradykinesia, Tremor... OMIM:213600
Juvenile Huntington Disease
Progressive cerebellar ataxia, Ataxia, Rigidity, Chorea, Ventriculomegaly, Bradykinesia, Gait ata... ORPHA:248111
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Ataxia, Rigidity, Bradykinesia, Fasciculations OMIM:183050
Autosomal Dominant Spastic Paraplegia Type 3
Frequent falls, Ankle clonus, Rigidity, Bradykinesia, Lower limb hypertonia, Spastic gait, Babins... ORPHA:100984
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Postural tremor, Rigidity, Tremo... ORPHA:314632
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Spastic Paraplegia 80, Autosomal Dominant
Limb ataxia, Bradykinesia, Spastic paraplegia, Upper limb spasticity, Babinski sign, Lower limb s... OMIM:618418
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Parkinsonism, Ankle clonus, Scissor gait, Tremor, Bradykinesia, Babinski sign ORPHA:521406
Autosomal Recessive Dopa-Responsive Dystonia
Parkinsonism, Ataxia, Postural tremor, Abnormality of extrapyramidal motor function, Rigidity, Br... ORPHA:101150
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Hemiparesis, Lateral ventricle dilatation, Tremor, Bradykinesia ORPHA:306669
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Spastic Paraplegia 78, Autosomal Recessive
Abnormal pyramidal sign, Spastic tetraplegia, Parkinsonism, Ataxia, Bradykinesia, Gait ataxia, Sp... OMIM:617225
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Slurred speech, Rigidity, Dysdiadochokinesis OMIM:609161
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Abnormal pyramidal sign, Spastic tetraparesis, Bradykinesia OMIM:619052
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Limb ataxia, Rigidity, Bradykinesia, Babinski sign, Hypertonia OMIM:618824
Spinocerebellar Ataxia 17
Parkinsonism, Limb ataxia, Ataxia, Apraxia, Rigidity, Chorea, Bradykinesia, Intention tremor, Gai... OMIM:607136
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Abnormal pyramidal sign, Parkinsonism, Ataxia, Chorea, Bradykinesia, Slurred speech, Dysmetria OMIM:618317
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:605909
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Abnormal pyramidal sign, Parkinsonism, Limb hypertonia, Rigidity, Bradykinesia, Pill-... OMIM:615528
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Parkinsonism, Rigidity ORPHA:306692
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Rigidity, Dysdiadochokinesis ORPHA:228169
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradyk... OMIM:616710
Zika Virus Disease
Miscarriage, Maculopapular exanthema, Meningitis, Skin rash, Arthritis, Infectious encephalitis, ... ORPHA:448237
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Parkinsonism With Polyneuropathy
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradyk... OMIM:619279
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Dystonia 12
Tremor, Bradykinesia, Parkinsonism, Torticollis OMIM:128235
Nipah Virus Disease
Tremor, Infectious encephalitis, Myoclonus, Recurrent pharyngitis ORPHA:99825
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Rapid-Onset Dystonia-Parkinsonism
Parkinsonism, Torticollis, Gait ataxia, Bradykinesia, Resting tremor ORPHA:71517
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb myoclonus, Torticollis, Limb ataxia, Postural tremor, Gait ataxia, Bradykinesia OMIM:619862
Huntington Disease-Like 1
Frequent falls, Simultanapraxia, Clumsiness, Ventriculomegaly, Chorea, Bradykinesia, Gait ataxia,... ORPHA:157941
Huntington Disease
Gait ataxia, Chorea, Rigidity, Bradykinesia OMIM:143100
Spinocerebellar Ataxia 2
Spasticity, Parkinsonism, Limb ataxia, Oculomotor apraxia, Progressive cerebellar ataxia, Ataxia,... OMIM:183090
Typhoid
Ataxia, Skin rash, Lethargy, Tremor, Infectious encephalitis, Hypertonia ORPHA:99745
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency 37
Infectious encephalitis, Colitis, Recurrent infections OMIM:616098
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Infantile Dystonia-Parkinsonism
Abnormal pyramidal sign, Parkinsonism, Limb hypertonia, Chorea, Bradykinesia, Cerebral palsy, Hyp... ORPHA:238455
Dravet Syndrome
Parkinsonism, Cogwheel rigidity, Progressive gait ataxia, Rigidity, Bradykinesia, Cyanotic episod... ORPHA:33069
Corticobasal Syndrome
Limb myoclonus, Parkinsonism, Oromotor apraxia, Speech apraxia, Tremor, Bradykinesia, Limb apraxi... ORPHA:454887
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Herpes simplex encephalitis OMIM:616532
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Recurrent respiratory infections, Bradykinesia OMIM:619063
Bare Lymphocyte Syndrome, Type Ii
Recurrent urinary tract infections, Cholangitis, Recurrent viral infections, Recurrent bacterial ... OMIM:209920
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Bradykinesia, Rigidity, Ataxia OMIM:617836
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Parkinsonism, Apraxia, Rigidity, Bradykinesia OMIM:221820
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Ataxia, Limb fasciculations, Paraparesis, Apraxia, Gait apraxia, Dysdiadochokinesis,... OMIM:615157
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Tremor, Bradykinesia, Spastic paraparesis ORPHA:329284
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Neurocutaneous Melanocytosis
Hemiparesis, Death in infancy, Ventriculomegaly, Infectious encephalitis, Dandy-Walker malformation ORPHA:2481
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia ORPHA:240085
Scrub Typhus
Myocarditis, Meningitis, Skin rash, Tremor, Infectious encephalitis, Anterior uveitis, Lethargy ORPHA:83317
Leber Optic Atrophy And Dystonia
Spasticity, Bradykinesia, Upper motor neuron dysfunction, Athetosis OMIM:500001
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Ataxia, Limb hypertonia, Rigidity, Tremor, Bradykinesia, Hypertonia, Choreoathetosis OMIM:261640
Huntington Disease-Like 2
Bradykinesia, Action tremor, Rigidity, Chorea OMIM:606438
Complement Component 8 Deficiency, Type I
Meningitis OMIM:613790
Machado-Joseph Disease
Spasticity, Parkinsonism, Limb ataxia, Progressive cerebellar ataxia, Ataxia, Facial-lingual fasc... OMIM:109150
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Hypoalbuminemia OMIM:616267
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Cerebral Visual Impairment
Oculomotor apraxia, Meningitis, Hydrocephalus, Clumsiness, Infectious encephalitis, Cerebral pals... ORPHA:447788
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Bradykinesia, Parkinsonism, Hypertonia, Limb hypertonia OMIM:617384
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Molluscum contagiosum, Herpes simplex encephalitis, Recurrent otitis media, Bronchiectasis, Recur... OMIM:618982
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Oromotor apraxia, Ataxia, Clumsiness, Paraparesis, Lateral ventricle dilatation, Brad... OMIM:617854
Lopes-Maciel-Rodan Syndrome
Spasticity, Abnormal pyramidal sign, Ankle clonus, Tremor, Bradykinesia, Hypertonia OMIM:617435
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Spastic tetraplegia, Rigidity, Spastic paraparesis OMIM:615643
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
Parkinson Disease 17
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor OMIM:614203
Autosomal Recessive Progressive External Ophthalmoplegia
Optic neuritis, Ataxia, Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic m... ORPHA:254886
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5
Herpes simplex encephalitis OMIM:614849
Pfapa Syndrome
Infectious encephalitis, Arthritis, Recurrent pharyngitis ORPHA:42642
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Progressive cerebellar ataxia, Clumsiness, Spastic dysarthria, Chorea, T... ORPHA:282166
Parkinsonism-Dystonia 1, Infantile-Onset
Hyperkinetic movements, Abnormal pyramidal sign, Parkinsonism, Cogwheel rigidity, Rigidity, Chore... OMIM:613135
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Hemiparesis, Ataxia, Bradykinesia, Gait ataxia, Episodic ataxia, Incoordination, Truncal ataxia, ... OMIM:601338
Kufor-Rakeb Syndrome
Spasticity, Parkinsonism, Torticollis, Ataxia, Parkinsonism with favorable response to dopaminerg... OMIM:606693
Aspergillosis
Meningitis, Invasive pulmonary aspergillosis, Hepatitis, Sinusitis, Infectious encephalitis, Bron... ORPHA:1163
Perching Syndrome
Cyanosis OMIM:617055
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hyperkinetic movements, Ataxia, Clonus, Abnormality of extrapyramidal motor function, Rigidity, C... ORPHA:13
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Ataxia, Cogwheel rigidity, Chorea, Bradykinesia, Intention tremor, Myoclonus, Resti... OMIM:619725
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral hepatitis, Meningitis, Recurrent enteroviral infe... OMIM:307200
Avian Influenza
Miscarriage, Meningitis, Hypoxemia, Hepatitis, Infectious encephalitis, Pneumonia, Conjunctivitis... ORPHA:454836
Spinocerebellar Ataxia 10
Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Limb fasciculations, Abnorma... OMIM:603516
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic tetraplegia, Parkinsonism, Ataxia, Apraxia, Tremor, Bradykinesia, Spastic paraplegia, Res... OMIM:300055
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Meningitis, Fulminant hepatitis, Infectious encephalitis, Recur... OMIM:308240
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholesterolemia, Lactescent... OMIM:238600
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Bacterial Toxic-Shock Syndrome
Peritonitis, Myocarditis, Recurrent urinary tract infections, Glomerulonephritis, Meningitis, Ski... ORPHA:36234
Listeriosis
Peritonitis, Myocarditis, Hemiparesis, Endocarditis, Ataxia, Arteritis, Myoclonus, Unusual CNS in... ORPHA:533
X-Linked Dystonia-Parkinsonism
Frequent falls, Aspiration pneumonia, Hand tremor, Blepharospasm, Parkinsonism with favorable res... ORPHA:53351
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... OMIM:605814
Reynolds Syndrome
Jaundice, Skin rash, Keratoconjunctivitis sicca, Mucosal telangiectasiae, Arthritis, Infectious e... ORPHA:779
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Retrocollis, Postural tremor, Bradykinesia, Involuntary mo... OMIM:612067
Meningococcal Meningitis
Skin rash, Infectious encephalitis, Purpura, Petechiae, Lethargy ORPHA:33475
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Postural tremor, Dysdiadochokinesis, Chorea, Bradykinesia, Slurred... ORPHA:98755
Multiple System Atrophy
Frequent falls, Abnormal pyramidal sign, Parkinsonism, Progressive cerebellar ataxia, Postural tr... ORPHA:102
Gm1 Gangliosidosis
Spasticity, Recurrent respiratory infections, Aspiration pneumonia, Ataxia, Abnormality of extrap... ORPHA:354
Legionnaires Disease
Myocarditis, Jaundice, Endocarditis, Ataxia, Pancreatitis, Hepatitis, Infectious encephalitis, Re... ORPHA:549
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Limb hypertonia, Rigidity, Tremor, Bradykinesia, Cerebral palsy ORPHA:70594
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Parkinsonism with favorable response to dopaminergic medication, Postural tremor, ... OMIM:606324
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Erythema, Tubulointerstitial nephritis, Skin rash, Angioedema, Hepatitis, Infectious... ORPHA:139402
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Slowed slurred speech, Rigidity, Bradykinesia, Gait ataxia, Myoclonus, R... ORPHA:391411
Hartnup Disease
Infectious encephalitis, Cutaneous photosensitivity, Ataxia, Skin rash ORPHA:2116
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Parkinsonism, Head titubation, Rigidity, Tremor, Bradykinesia, Gait ataxia, Myoclonus... OMIM:618877
Whipple Disease
Myocarditis, Abnormal pyramidal sign, Ataxia, Hydrocephalus, Uveitis, Arthritis, Infectious encep... ORPHA:3452
Atypical Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Oculomotor apraxia, Blepharospasm, Speech apraxia, Rigidit... ORPHA:99750
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Incoordination ORPHA:36387
Familial Hemophagocytic Lymphohistiocytosis
Jaundice, Maculopapular exanthema, Bruising susceptibility, Skin rash, Colitis, Ecchymosis, Infec... ORPHA:540
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Parkinsonism, Clumsiness, Postural tremor, Rigidity, Bradykinesia, Resting tremor OMIM:619911
Huntington Disease
Clonus, Clumsiness, Rigidity, Chorea, Bradykinesia, Myoclonus, Babinski sign, Involuntary movemen... ORPHA:399
Neurodegeneration With Brain Iron Accumulation 3
Spasticity, Parkinsonism, Ataxia, Blepharospasm, Rigidity, Chorea, Tremor, Bradykinesia, Babinski... OMIM:606159
Lyme Disease
Arthritis, Uveitis, Infectious encephalitis, Meningitis ORPHA:91546
Sporadic Infantile Bilateral Striatal Necrosis
Recurrent streptococcus pneumoniae infections, Parkinsonism, Hemiplegia, Titubation, Chorea, Brad... ORPHA:225147
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Frequent falls, Parkinsonism, Hand tremor, Rigidity, Bradykinesia, Babinski sign, Spa... ORPHA:289560
Multiple System Atrophy, Parkinsonian Type
Frequent falls, Abnormal pyramidal sign, Parkinsonism, Progressive cerebellar ataxia, Postural tr... ORPHA:98933
Hemophagocytic Lymphohistiocytosis, Familial, 1
Jaundice, Ataxia, Meningitis, Hemiplegia, Infectious encephalitis, Tetraplegia, Hypertonia OMIM:267700
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Infectious encephalitis, Death in infancy ORPHA:1194
Multiple System Atrophy, Cerebellar Type
Frequent falls, Abnormal pyramidal sign, Parkinsonism, Limb ataxia, Progressive cerebellar ataxia... ORPHA:227510
Congenital Enterovirus Infection
Myocarditis, Meningitis, Skin rash, Ventriculomegaly, Hepatitis, Infectious encephalitis ORPHA:292
Fragile X Tremor/Ataxia Syndrome
Parkinsonism, Postural tremor, Dysdiadochokinesis, Bradykinesia, Intention tremor, Gait ataxia, R... OMIM:300623
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Ataxia, Meningitis, Skin rash, Hemiplegia, Infectious encephalitis, Tetraplegia, Hypert... OMIM:603553
Cln3 Disease
Acne, Bradykinesia, Extrapyramidal muscular rigidity, Ataxia ORPHA:228346
Adult-Onset Nemaline Myopathy
Bradykinesia, Poor fine motor coordination ORPHA:171442
Rift Valley Fever
Jaundice, Miscarriage, Hemiparesis, Skin rash, Paraparesis, Uveitis, Hepatitis, Infectious enceph... ORPHA:319251
Hereditary Methemoglobinemia
Spasticity, Spastic tetraplegia, Athetosis, Cyanosis, Hypertonia ORPHA:621
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:208920
Benign Familial Infantile Epilepsy
Cyanosis, Limb myoclonus, Hypertonia ORPHA:306
Hypermanganesemia With Dystonia 2
Spasticity, Parkinsonism, Clumsiness, Ankle clonus, Scissor gait, Tremor, Bradykinesia, Lower lim... OMIM:617013
Japanese Encephalitis
Weakness due to upper motor neuron dysfunction, Meningitis, Choreoathetosis, Cogwheel rigidity, A... ORPHA:79139
Laron Syndrome
Hypercholesterolemia ORPHA:633
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:277460
Hypermanganesemia With Dystonia 1
Parkinsonism, Abnormality of extrapyramidal motor function, Rigidity, Tremor, Bradykinesia, Poor ... OMIM:613280
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Immunoglobulin A Vasculitis
Erythema, Orchitis, Bruising susceptibility, Skin rash, Angioedema, Vascular skin abnormality, He... ORPHA:761
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Elevated circulating ... ORPHA:64753
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... ORPHA:567548
Gerstmann-Straussler Disease
Spasticity, Parkinsonism, Limb ataxia, Apraxia, Rigidity, Tremor, Bradykinesia, Gait ataxia, Myoc... OMIM:137440
Immunodeficiency With Hyper-Igm, Type 1
Stomatitis, Chronic hepatitis, Meningitis, Ankle clonus, Hypoxemia, Recurrent lower respiratory t... OMIM:308230
Childhood-Onset Nemaline Myopathy
Clumsiness, Bradykinesia, Poor fine motor coordination ORPHA:171439
Waisman Syndrome
Parkinsonism, Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic medication,... OMIM:311510
Breath-Holding Spells
Cyanosis OMIM:607578
Caribbean Parkinsonism
Parkinsonism, Weakness due to upper motor neuron dysfunction, Apraxia, Progressive gait ataxia, R... ORPHA:97355
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Parkinsonism, Limb ataxia, Rigidity, Bradykinesia, Intention tremor, Gait ataxia, Babinski sign, ... OMIM:258450
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Encephalopathy, Ethylmalonic
Ataxia, Death in infancy, Abnormality of extrapyramidal motor function, Petechiae, Babinski sign,... OMIM:602473
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Lymphoproliferative Syndrome 2
Uveitis, Severe varicella zoster infection, Recurrent pneumonia, Persistent EBV viremia, EBV ence... OMIM:615122
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Increased VLDL ... OMIM:144650
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral hepatitis, Meningitis, Recurrent lower respirator... OMIM:300755
New-Onset Refractory Status Epilepticus
Infectious encephalitis ORPHA:363558
Autosomal Dominant Dopa-Responsive Dystonia
Parkinsonism, Torticollis, Ataxia, Postural tremor, Abnormality of extrapyramidal motor function,... ORPHA:98808
Poliomyelitis
Hyperkinetic movements, Meningitis, Paraparesis, Infectious encephalitis, Paralysis, Fasciculatio... ORPHA:2912
Parkinson Disease 8, Autosomal Dominant
Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykin... OMIM:607060
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Acute Disseminated Encephalomyelitis
Abnormal pyramidal sign, Optic neuritis, Hemiparesis, Disseminated viral infection, Ataxia, Diaph... ORPHA:83597
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Recurrent aphthous stomatitis, Herpes simplex encephalitis OMIM:614850
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Rigidity, Tremor, Bradykinesia, Spastic paraparesis OMIM:300894
Alexander Disease
Spasticity, Abnormal pyramidal sign, Ataxia, Hydrocephalus, Clonus, Aqueductal stenosis, Chorea, ... ORPHA:58
Classic Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Blepharospasm, Parkinsonism with favorable response to dop... ORPHA:240071
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Slowed slurred speech OMIM:619827
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614251
Parkinson Disease 21
Tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:616361
American Trypanosomiasis
Myocarditis, Infectious encephalitis, Skin rash ORPHA:3386
Q Fever
Myocarditis, Maculopapular exanthema, Endocarditis, Meningitis, Hepatitis, Infectious encephaliti... ORPHA:781
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... OMIM:619662
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Parkinsonism ORPHA:412066
Neonatal Alloimmune Neutropenia
Miscarriage, Jaundice, Meningitis, Severe infection, Pneumonia ORPHA:464370
Postencephalitic Parkinsonism
Abnormal pyramidal sign, Cogwheel rigidity, Rigidity, Bradykinesia, Tremor by anatomical site, Re... ORPHA:97349
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Cyanotic episode, Myoclonus, Spastic tetraparesis, Hypertonia ORPHA:284417
Laryngeal Abductor Paralysis
Cyanosis, Vocal cord paralysis OMIM:150260
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... ORPHA:247598
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... ORPHA:412
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Autosomal Recessive Spastic Paraplegia Type 77
Weakness due to upper motor neuron dysfunction, Progressive spastic paraplegia, Scissor gait, Bra... ORPHA:466722
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Citrullinemia Type Ii
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip... ORPHA:247585
Microsporidiosis
Peritonitis, Myocarditis, Keratoconjunctivitis, Cholangitis, Endocarditis, Pancreatitis, Myositis... ORPHA:2552
Spinocerebellar Ataxia Type 13
Limb ataxia, Torticollis, Clumsiness, Titubation, Bradykinesia, Gait ataxia, Myoclonus ORPHA:98768
Manganese Poisoning
Cogwheel rigidity, Postural tremor, Abnormality of extrapyramidal motor function, Bradykinesia, H... ORPHA:306682
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Oculomotor apraxia, Blepharospasm, Spastic dysarthria, Rigidity, Tremor, Bradykinesia ORPHA:240094
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Recurrent otitis media, Opisthotonus, Patent ductus arteriosus, Cyanosis, Hypertonia ORPHA:3304
Nocardiosis
Peritonitis, Unusual CNS infection, Keratitis, Endocarditis, Meningitis, Scleritis, Lymphadenitis... ORPHA:31204
Spinocerebellar Ataxia Type 8
Spasticity, Limb ataxia, Ataxia, Spastic dysarthria, Rigidity, Bradykinesia, Gait ataxia ORPHA:98760
Ethylmalonic Encephalopathy
Abnormal pyramidal sign, Ataxia, Abnormality of extrapyramidal motor function, Petechiae, Acrocya... ORPHA:51188
Parkinsonian-Pyramidal Syndrome
Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Bradykinesia, Intention tremor, Myoc... ORPHA:171695
Benign Familial Neonatal Epilepsy
Limb myoclonus, Circumoral cyanosis, Clonus ORPHA:1949
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Behçet Disease
Abnormal pyramidal sign, Optic neuritis, Orchitis, Endocarditis, Meningitis, Recurrent aphthous s... ORPHA:117
Brucellosis
Myocarditis, Knee osteoarthritis, Pericarditis, Glomerulonephritis, Orchitis, Miscarriage, Endoca... ORPHA:1304
Neuroferritinopathy
Parkinsonism, Blepharospasm, Chorea, Palatal tremor, Bradykinesia, Resting tremor, Babinski sign,... ORPHA:157846
Obsolete: Arnold-Chiari Malformation Type Ii
Spasticity, Ataxia, Hydrocephalus, Paraparesis, Aqueductal stenosis, Ventriculomegaly, Paraplegia... ORPHA:1136
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Hypertonia, Opisthotonus OMIM:250800
Chiari Malformation Type Ii
Cyanosis, Opisthotonus, Ataxia, Hydrocephalus OMIM:207950
Zygomycosis
Peritonitis, Myocarditis, Endocarditis, Pancreatitis, Colitis, Gastritis, Hepatitis, Sinusitis, U... ORPHA:73263
Parkinson Disease 14, Autosomal Recessive
Spasticity, Parkinsonism, Eyelid myoclonus, Hemiparesis, Hand tremor, Clumsiness, Ankle clonus, U... OMIM:612953
Sitosterolemia 1
Reduced haptoglobin level, Elevated circulating sitosterol concentration, Xanthelasma, Hyperapobe... OMIM:210250
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... OMIM:278000
Incontinentia Pigmenti
Spasticity, Erythema, Skin rash, Uveitis, Hemiplegia/hemiparesis, Infectious encephalitis, Telang... ORPHA:464
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Hypoxemia, Pneumonia, Cyanosis, Brain abscess OMIM:610910
Complement Component 4B Deficiency
Meningitis, Chronic active hepatitis, Recurrent otitis media, Recurrent pneumonia, Recurrent sinu... OMIM:614379
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections OMIM:263000
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Infectious encephalitis, Spastic paraplegia, Death in infancy ORPHA:847
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Chorea, Dysdiadochokinesis, Bradykinesia, Intention tremor, Gait ataxia, Babinski sig... OMIM:610217
Perry Syndrome
Tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:168605
Hsd10 Disease, Infantile Type
Hyperkinetic movements, Poor coordination, Spastic diplegia, Cyanosis, Choreoathetosis, Spastic t... ORPHA:391428
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Parkinsonism, Hand tremor, Parkinsonism with favorable response to dopaminergic medication, Rigid... OMIM:157640
Primary Progressive Freezing Gait
Frequent falls, Clonus, Postural tremor, Rigidity, Bradykinesia, Babinski sign ORPHA:75567
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... OMIM:615558
Tricuspid Atresia
Cyanosis ORPHA:1209
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Amoebiasis Due To Free-Living Amoebae
Hemiparesis, Ataxia, Lethargy, Sinusitis, Unusual skin infection, Infectious encephalitis, Pneumo... ORPHA:68
Parkinson Disease, Late-Onset
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor OMIM:168600
Chikungunya
Erythema, Maculopapular exanthema, Enthesitis, Skin rash, Arthritis, Infectious encephalitis, Pet... ORPHA:324625
Immunodeficiency 59 And Hypoglycemia
Acne inversa, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Prolon... OMIM:233600
Buerger Disease
Acrocyanosis ORPHA:36258
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Chronic mucocutaneous candidiasis, Recurrent herpes, Hepati... ORPHA:391487
Scedosporiosis
Pericarditis, Endocarditis, Arthralgia/arthritis, Pulmonary tuberculosis, Severe infection, Funga... ORPHA:449280
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Meningitis, Failure to thrive secondary to recurrent infections, Arthritis, Purulent rhinitis, Pn... OMIM:601457
Progressive Supranuclear Palsy
Tremor, Bradykinesia, Rigidity, Blepharospasm ORPHA:683
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Limb hypertonia, Ventriculomegaly, Gait ataxia, Opisthotonus, Cyanosis, Choreoathetosis OMIM:619580
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Parkinson Disease 1, Autosomal Dominant
Parkinsonism, Rigidity, Bradykinesia, Myoclonus, Resting tremor OMIM:168601
Adult-Onset Dystonia-Parkinsonism
Spasticity, Clumsiness, Parkinsonism with favorable response to dopaminergic medication, Progress... ORPHA:199351
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypoxemia, Pneumonia ORPHA:70587
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Erythema, Ataxia, Recurrent aphthous stomatitis, Arthritis, Purpura, Urticaria, Acro... ORPHA:343
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Meningitis, Recurrent bacterial infections, Recurrent otitis me... OMIM:613500
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Rigidity, Dysdiadochokinesis, Bradykinesia, Action tremor, Hypertonia, Poor fine motor ... ORPHA:309854
Immunodeficiency 103, Susceptibility To Fungal Infections
Meningitis, Deep dermatophytosis, Chronic tinea infection, Chronic oral candidiasis, Onychomycosis OMIM:212050
Autosomal Dominant Progressive External Ophthalmoplegia
Frequent falls, Ataxia, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Rigidity... ORPHA:254892
Congenital Fibrinogen Deficiency
Cyanosis, Opisthotonus, Subcutaneous hemorrhage, Bruising susceptibility ORPHA:335
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Hereditary Late-Onset Parkinson Disease
Frequent falls, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Ri... ORPHA:411602
Young-Onset Parkinson Disease
Spasticity, Bradykinesia, Rigidity, Tremor ORPHA:2828
Immunodeficiency 66
Recurrent skin infections, Pustule, Meningitis OMIM:618847
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Immunodeficiency, Common Variable, 2
Meningitis, Recurrent bacterial infections, Recurrent otitis media, Recurrent pneumonia, Bronchie... OMIM:240500
Eosinophilic Fasciitis
Arthritis, Myositis, Acrocyanosis, Fasciitis ORPHA:3165
Selective Igm Deficiency
Chronic sinusitis, Recurrent shingles, Recurrent herpes, Chronic oral candidiasis, Severe infecti... ORPHA:331235
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Intention tremor, Truncal ataxia, Acrocyanosis OMIM:614407
Non Rare In Europe: Central Precocious Puberty
Acne, Meningitis, Hydrocephalus ORPHA:759
Congenital Pulmonary Lymphangiectasia
Cyanosis ORPHA:2414
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Lateral ventricle dilatation, Tubulointerstitial nephritis, Ventriculomegaly ORPHA:488627
Parkinson Disease 20, Early-Onset
Parkinsonism, Rigidity, Tremor, Bradykinesia, Eyelid apraxia, Involuntary movements OMIM:615530
Fragile X-Associated Tremor/Ataxia Syndrome
Parkinsonism, Ataxia, Rigidity, Bradykinesia, Intention tremor, Gait ataxia, Dysmetria ORPHA:93256
Isolated Agammaglobulinemia
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Meningitis, Skin rash, A... ORPHA:229717
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Cysticercosis
Upper motor neuron dysfunction, Infectious encephalitis, Iridocyclitis, Ataxia ORPHA:1560
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Multiple System Atrophy 1, Susceptibility To
Parkinsonism, Ataxia, Rigidity, Tremor, Bradykinesia, Babinski sign OMIM:146500
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:370
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Laryngotracheoesophageal Cleft
Cyanosis, Recurrent respiratory infections ORPHA:2004
Sepsis In Premature Infants
Jaundice, Meningitis, Severe infection, Purpura, Enterocolitis, Petechiae, Cyanosis, Disseminated... ORPHA:90051
Rett Syndrome
Bradykinesia, Cholecystitis, Limb apraxia ORPHA:778
Acquired Methemoglobinemia
Cyanosis, Hypoxemia ORPHA:464453
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Chronic otitis media, Meningitis, Skin rash, Arthritis, Hepatit... ORPHA:33110
Aicardi-Goutieres Syndrome 1
Spasticity, Erythema, Prolonged neonatal jaundice, Abnormality of extrapyramidal motor function, ... OMIM:225750
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Bradykinesia, Babinski sign OMIM:614924
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia, Patent ductus arteriosus ORPHA:860
Kufor-Rakeb Syndrome
Abnormal pyramidal sign, Parkinsonism, Blepharospasm, Lethargy, Rigidity, Bradykinesia, Eyelid ap... ORPHA:306674
Neurodegeneration With Brain Iron Accumulation 1
Spasticity, Abnormal pyramidal sign, Parkinsonism, Ataxia, Blepharospasm, Abnormality of extrapyr... OMIM:234200
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Recurrent abscess formation, Hypoxemia, Telangiectasia, Cyanosis, Brain a... ORPHA:2038
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:264580
Primary Pulmonary Hypoplasia
Cyanosis, Recurrent respiratory infections, Hypoxemia ORPHA:2257
Cryptogenic Organizing Pneumonia
Cyanosis, Hypoxemia ORPHA:1302
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Endocarditis, Tubulointerstitial nephritis, Skin rash, Myositis, Urticaria, Hemipleg... ORPHA:183
Complement Factor B Deficiency
Peritonitis, Meningitis, Recurrent bacterial infections, Pneumonia, Recurrent meningococcal disease OMIM:615561
Immunodeficiency 46
Recurrent sinopulmonary infections, Conjunctivitis, Meningitis, Chronic oral candidiasis OMIM:616740
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in childhood, Spasticity, Ataxia, Death in infancy, Recurrent lower respiratory tract infec... OMIM:618426
Tularemia
Meningitis, Skin rash, Inflammatory abnormality of the eye, Cutaneous abscess, Pneumonia, Conjunc... ORPHA:3392
Tetrasomy 5P
Cyanosis, Recurrent respiratory infections, Hydrocephalus ORPHA:3309
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Death in infancy, Neonatal death OMIM:265120
Postinfectious Vasculitis
Persistent human papillomavirus infection, Inflammatory abnormality of the skin, Bacterial endoca... ORPHA:48435
Asbestos Intoxication
Cyanosis, Hypoxemia, Oxygen desaturation on exertion ORPHA:2302
Hypocomplementemic Urticarial Vasculitis
Meningitis, Skin rash, Angioedema, Ataxia, Uveitis, Recurrent bacterial infections, Hemiplegia/he... ORPHA:36412
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Infectious encephalitis, Recurrent lower respiratory tract infections, Recurrent upper ... ORPHA:293987
Acute Interstitial Pneumonia
Cyanosis, Hypoxemia, Bronchiectasis ORPHA:79126
Chronic Pneumonitis Of Infancy
Cyanosis, Hypoxemia ORPHA:91359
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Chronic otitis media, Eczematoid dermatitis, Recurrent strept... ORPHA:83471
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Death in infancy, Neonatal death, Cyanosis, Nonspecific interstitial pneumonia OMIM:610921
Capillary Malformation-Arteriovenous Malformation
Telangiectasia, Vascular skin abnormality, Cerebral arteriovenous malformation, Hydrocephalus ORPHA:137667
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Meningitis, Recurrent sinusitis OMIM:619707
Waardenburg Syndrome Type 3
Spastic paraplegia, Acrocyanosis ORPHA:896
Acquired Purpura Fulminans
Macular purpura, Acrocyanosis, Skin rash ORPHA:49566
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis ORPHA:444013
Choanal Atresia
Cyanosis, Recurrent respiratory infections, Chronic sinusitis ORPHA:137914
Severe Combined Immunodeficiency, X-Linked
Skin rash, Recurrent bacterial meningitis, Chronic oral candidiasis, Recurrent fungal infections,... OMIM:300400
Double Outlet Right Ventricle
Cyanosis, Truncus arteriosus ORPHA:3426
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hyperammonemia, Hyperglutaminemia, Steatorrhea, Hyperala... ORPHA:470
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Lethargy ORPHA:159
Gaisböck Syndrome
Increased circulating renin level, Hyperuricemia, Hyperproteinemia, Hypertriglyceridemia, Hyperch... ORPHA:90041
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent streptococcus pneumoniae infections, Glomerulonephr... OMIM:610984
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Congenital Myasthenic Syndrome
Cyanosis, Recurrent respiratory infections, Ataxia ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Recurrent respiratory infections, Ataxia ORPHA:98914
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Telangiectasia, Hereditary Hemorrhagic, Type 2
Lip telangiectasia, Conjunctival telangiectasia, Fingerpad telangiectases, Facial telangiectasia,... OMIM:600376
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Acrocyanosis ORPHA:1867
Fucosidosis
Spasticity, Abnormal pyramidal sign, Spastic tetraplegia, Vascular skin abnormality, Acrocyanosis ORPHA:349
Aicardi-Goutières Syndrome
Spasticity, Abnormal pyramidal sign, Spastic tetraplegia, Hemiplegia/hemiparesis, Prolonged neona... ORPHA:51
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Truncus arteriosus, Death in infancy OMIM:617478
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
X-Linked Agammaglobulinemia
Chronic otitis media, Recurrent cutaneous abscess formation, Meningitis, Skin rash, Arthritis, He... ORPHA:47
Supranuclear Palsy, Progressive, 2
Parkinsonism, Retrocollis, Postural tremor, Rigidity, Bradykinesia, Eyelid apraxia OMIM:609454
Telangiectasia, Hereditary Hemorrhagic, Type 1
Lip telangiectasia, Conjunctival telangiectasia, Miscarriage, Fingerpad telangiectases, Hypoxemia... OMIM:187300
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hyponatremia, Hyperkalemia, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia ORPHA:275761
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Recurrent pneumonia, Bronchiectasis, Cyanosis, Interstitial pneumonitis, Nonspecific i... OMIM:610913
Choreoacanthocytosis
Hyperkinetic movements, Parkinsonism, Blepharospasm, Head titubation, Lateral ventricle dilatatio... ORPHA:2388
Autoinflammation With Infantile Enterocolitis
Urticaria, Enterocolitis, Meningitis, Skin rash OMIM:616050
Isolated Right Ventricular Hypoplasia
Cyanosis, Hypoxemia ORPHA:439
Progressive Multifocal Leukoencephalopathy
Parkinsonism, Weakness due to upper motor neuron dysfunction, Meningitis, Hemiplegia/hemiparesis,... ORPHA:217260
Telangiectasia, Hereditary Hemorrhagic, Type 4
Lip telangiectasia, Conjunctival telangiectasia, Tongue telangiectasia, Nasal mucosa telangiectas... OMIM:610655
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Recurrent bacterial meningitis, Sinusitis, Recurrent upper and lower respirato... ORPHA:70593
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Mitochondrial Complex I Deficiency, Nuclear Type 1
Spasticity, Ataxia, Babinski sign, Death in infancy, Cyanosis, Tongue fasciculations, Lethargy OMIM:252010
Supranuclear Palsy, Progressive, 1
Parkinsonism, Retrocollis, Rigidity, Tremor, Bradykinesia, Eyelid apraxia OMIM:601104
Adult-Onset Still Disease
Myocarditis, Erythema, Meningitis, Skin rash, Arthritis, Hepatitis, Recurrent pharyngitis, Perica... ORPHA:829
Ethylene Glycol Poisoning
Ataxia, Gastritis, Slurred speech, Myoclonus, Cyanosis ORPHA:31826
Fusariosis
Peritonitis, Maculopapular exanthema, Myositis, Arthritis, Fasciitis, Sinusitis, Onychomycosis, I... ORPHA:228119
Aplasia Cutis-Myopia Syndrome
Meningitis ORPHA:1117
Complete Atrioventricular Septal Defect
Cyanosis, Recurrent pneumonia, Lethargy ORPHA:1329
Unilateral Polymicrogyria
Spastic tetraplegia, Hemiparesis, Pseudobulbar paralysis, Myoclonus, Cyanosis, Involuntary moveme... ORPHA:268943
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperuricemia, Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hypercholesterolemia ORPHA:79259
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Hypocapnia, Patent ductus ... ORPHA:980
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Hypoxemia ORPHA:747
Myasthenia Gravis
Hashimoto thyroiditis, Hepatitis, Rheumatoid arthritis, Myositis, Acrocyanosis ORPHA:589
Follicular Lymphoma
Meningitis ORPHA:545
Parkes Weber Syndrome
Paraplegia, Cerebral arteriovenous malformation, Prominent superficial blood vessels ORPHA:90307
Cinca Syndrome
Meningitis, Uveitis, Retrobulbar optic neuritis, Purpura, Inflammatory abnormality of the eye, Ur... ORPHA:1451
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczematoid dermatitis, Inflammatory abnormality of the skin, Colitis, Gastritis, Crusting erythem... ORPHA:37042
Histiocytoid Cardiomyopathy
Cyanosis, Hemiplegia, Lethargy, Hydrocephalus ORPHA:137675
Cinca Syndrome
Arthritis, Uveitis, Meningitis, Skin rash OMIM:607115
Arachnoiditis
Meningitis, Hydrocephalus ORPHA:137817
Criss-Cross Heart
Cyanosis ORPHA:1461
Congenital Tracheomalacia
Bronchiectasis, Pneumonia, Patent ductus arteriosus, Recurrent upper respiratory tract infections... ORPHA:95430
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Recurrent respiratory infections, Aortopulmonary window, Patent ductus arteriosus ORPHA:99050
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Recurrent viral infections, Meningitis, Recurrent bacterial infections, Rec... ORPHA:169090
Tarp Syndrome
Cyanosis, Athetoid cerebral palsy ORPHA:2886
Pulmonary Capillary Hemangiomatosis
Cyanosis, Hypoxemia ORPHA:199241
Chronic Granulomatous Disease
Recurrent respiratory infections, Meningitis, Sinusitis, Inflammatory abnormality of the eye, Ecz... ORPHA:379
Angiostrongyliasis
Unusual CNS infection, Meningitis, Ventriculomegaly ORPHA:74
Gorham-Stout Disease
Torticollis, Osteomyelitis, Meningitis ORPHA:73
Esophageal Atresia
Recurrent respiratory infections, Esophagitis, Vocal cord paresis, Cyanosis, Hypertonia ORPHA:1199
Rat-Bite Fever
Myocarditis, Morbilliform rash, Maculopapular exanthema, Oligoarthritis, Endocarditis, Meningitis... ORPHA:31205
Congenital Tricuspid Valve Dysplasia
Cyanosis, Hypoxemia ORPHA:555874
Meckel Syndrome 14
Cyanosis OMIM:619879
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia, Hypokalemia, Hypoammonemia, Hyponatremia ORPHA:534
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Incoordination, Acrocyanosis OMIM:223900
Immunodeficiency 68
Septic arthritis, Recurrent skin infections, Lymphadenitis, Recurrent meningitis OMIM:612260
Phace Syndrome
Hemiplegia/hemiparesis, Dandy-Walker malformation, Cerebral arteriovenous malformation ORPHA:42775
Mixed Connective Tissue Disease
Myocarditis, Meningitis, Skin rash, Keratoconjunctivitis sicca, Arthritis, Gastritis, Purpura, My... ORPHA:809
Eisenmenger Syndrome
Bacterial endocarditis, Hypoxemia, Aortopulmonary window, Patent ductus arteriosus, Cyanosis, Let... ORPHA:97214
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Familial Dysautonomia
Recurrent respiratory infections, Ataxia, Acrocyanosis ORPHA:1764
Whim Syndrome
Limb ataxia, Meningitis, Severe periodontitis, Recurrent bacterial infections, Lymphadenitis, Par... ORPHA:51636
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Recurrent bacterial infections, Pneumonia ORPHA:99104
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Elevated circulating creatine kinase concentration, Elevated maternal serum alpha... OMIM:309000
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Hydrocephalus OMIM:261740
Coccidioidomycosis
Peritonitis, Morbilliform rash, Pericarditis, Coccidioidal meningitis, Skin rash, Hydrocephalus, ... ORPHA:228123
Tick-Borne Encephalitis
Hyperkinetic movements, Meningitis, Speech apraxia, Tremor, Paralysis, Tongue fasciculations, Unu... ORPHA:297
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Aqueductal stenosis, Patent ductus arteriosus, Hydrocephalus OMIM:306955
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Recurrent respiratory infections ORPHA:99106
Pulmonary Alveolar Microlithiasis
Cyanosis, Hypoxemia, Bronchiectasis, Oxygen desaturation on exertion ORPHA:60025
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Telangiectasia, Cerebral arteriovenous malformation OMIM:175050
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Aortic Arch Interruption
Cyanosis, Aortopulmonary window, Truncus arteriosus, Patent ductus arteriosus ORPHA:2299
Trichorhinophalangeal Syndrome, Type Ii
Recurrent respiratory infections, Hemiparesis, Recurrent otitis media, Recurrent pneumonia, Chron... OMIM:150230
Pitt-Hopkins Syndrome
Gait ataxia, Esophagitis, Ataxia, Acrocyanosis ORPHA:2896
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Recurrent bacterial infections, Pneumonia ORPHA:99103
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Wiskott-Aldrich Syndrome
Chronic otitis media, Recurrent respiratory infections, Keratitis, Inflammation of the large inte... ORPHA:906
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Hydranencephaly
Meningitis, Spastic diplegia, Ventriculomegaly, Opisthotonus, Lethargy ORPHA:2177
Acute Transverse Myelitis
Spasticity, Severe viral infection, Meningitis, Extrapulmonary tuberculosis, Paraparesis, Abnorma... ORPHA:139417
Poems Syndrome
Acrocyanosis ORPHA:2905
Giant Cell Arteritis
Ataxia, Meningitis, Arthritis, Recurrent pharyngitis, Pericarditis ORPHA:397
Congenital Tracheal Stenosis
Cyanosis, Patent ductus arteriosus ORPHA:141127
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Dermatomyositis
Myocarditis, Recurrent respiratory infections, Erythema, Arthritis, Telangiectasia of the skin, P... ORPHA:221
Trichinellosis
Hemiparesis, Meningitis, Skin rash, Hemiplegia, Lethargy, Babinski sign, Conjunctivitis ORPHA:863
Juvenile Polyposis Syndrome
Mucosal telangiectasiae, Brain abscess, Cerebral arteriovenous malformation ORPHA:2929
Kawasaki Disease
Myocarditis, Jaundice, Palmoplantar erythema, Meningitis, Skin rash, Cheilitis, Arthritis, Hepati... ORPHA:2331
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Meningitis, Skin rash, Blepharitis, Recurrent pneumonia, Col... OMIM:617718
Granulomatosis With Polyangiitis
Chronic otitis media, Recurrent respiratory infections, Pericarditis, Meningitis, Skin rash, Panc... ORPHA:900
Familial Mediterranean Fever
Peritonitis, Erythema, Orchitis, Meningitis, Skin rash, Erysipelas, Pancreatitis, Osteoarthritis,... ORPHA:342
Primary Sjögren Syndrome
Glomerulonephritis, Optic neuritis, Chronic active hepatitis, Chronic hepatitis, Meningitis, Tubu... ORPHA:289390
Truncus Arteriosus
Cyanosis, Truncus arteriosus, Patent ductus arteriosus ORPHA:3384
Hutchinson-Gilford Progeria Syndrome
Osteoarthritis, Premature skin wrinkling, Cyanosis, Generalized abnormality of skin, Prominent su... ORPHA:740
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Elevated circulating creatinine concentration,... OMIM:619534
Leukocyte Adhesion Deficiency
Peritonitis, Chronic oral candidiasis, Recurrent fungal infections, Perianal abscess, Recurrent u... ORPHA:2968
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hemiparesis, Meningitis, Acute colitis, Pancreatitis, Severe infection, Septic arthr... ORPHA:544482
Cryptococcosis
Peritonitis, Meningitis, Hydrocephalus, Osteomyelitis, Pneumonia, Prostatitis ORPHA:1546
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Meningitis, Recurrent lower respiratory tract infections, Recurrent otitis media, Pneumonia, Recu... OMIM:600802
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Familial Mediterranean Fever
Peritonitis, Orchitis, Meningitis, Erysipelas, Arthritis, Crohn's disease, Pericarditis OMIM:249100
Pituitary Dermoid And Epidermoid Cysts
Abnormal central motor function, Meningitis ORPHA:91351
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Recurrent meningitis, Recurrent lower respiratory tract infe... OMIM:301000
Kikuchi-Fujimoto Disease
Myocarditis, Malar rash, Erythema, Meningitis, Skin rash, Ataxia, Vasculitis in the skin, Pustule... ORPHA:50918
Classical Ehlers-Danlos Syndrome
Bruising susceptibility, Poor wound healing, Osteoarthritis, Ecchymosis, Prematurely aged appeara... ORPHA:287
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis, Patent ductus arteriosus ORPHA:216694
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis ORPHA:416
Cardiac Valvular Dysplasia 1