Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating cholesterol level Flvcr2tm1a(EUCOMM)Hmgu HET Early adult 1.54×10-05
increased circulating HDL cholesterol level Flvcr2tm1a(EUCOMM)Hmgu HET Early adult 4.20×10-05
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

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

Images

8 Images

Anti-nuclear antibody assay

Images

2 Images

Ear epidermis immunophenotyping

Images

6 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
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
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
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, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Herpes simplex encephalitis, Hemiparesis, Meningitis, Lethargy OMIM:617900
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Torticollis, Resting tremor, Incoordination, Spasticity, Parkinsonis... OMIM:128230
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Cyanosis, Apraxia, Chorea, Spasticity, Hemiparesis, Ataxia, Extrapyramidal dyskinesia... ORPHA:71277
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Death in childhood, Chorea, Ataxia, Lethargy OMIM:618683
L-2-Hydroxyglutaric Aciduria
Abnormality of extrapyramidal motor function, Spastic tetraparesis, Infectious encephalitis ORPHA:79314
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Immunodeficiency 83, Susceptibility To Viral Infections
Herpes simplex encephalitis, Hemiparesis, Meningitis, Lethargy OMIM:613002
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Intention tremor, Action t... ORPHA:98762
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Caribbean Parkinsonism
Bradykinesia, Apraxia, Action tremor, Rigidity, Parkinsonism, Myoclonus, Weakness due to upper mo... ORPHA:97355
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypercholesterolemia OMIM:620211
Dystonia 16
Bradykinesia, Torticollis, Parkinsonism, Abnormal pyramidal sign, Postural tremor ORPHA:210571
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Dilated third ventricle, C... ORPHA:363654
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Crigler-Najjar Syndrome
Jaundice, Lethargy, Infectious encephalitis ORPHA:205
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:613643
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:620482
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Rigidity, Slurred speech OMIM:609161
Autosomal Dominant Spastic Paraplegia Type 3
Spastic gait, Babinski sign, Bradykinesia, Lower limb spasticity, Frequent falls, Lower limb hype... ORPHA:100984
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Parkinsonism, Limb dysmetr... OMIM:213600
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Spasticity, Action tremor, Rigidity, Parkinsonism, Slurred ... OMIM:300423
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Fasciculations, Spasticity, Rigidity, Ataxia OMIM:183050
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Chorea, Gait ataxia, Rigidity, Ataxia, Myoclonus, Ve... ORPHA:248111
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Tremor, Hemiparesis, Parkinsonism, Lateral ventricle dilatation ORPHA:306669
Spastic Paraplegia 80, Autosomal Dominant
Bradykinesia, Babinski sign, Limb ataxia, Lower limb spasticity, Spastic paraplegia, Upper limb s... OMIM:618418
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Resting tremor, Gait ataxia, Spastic paraplegia, Ataxia, Parkinsonis... OMIM:617225
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:605909
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Scissor gait, Spasticity, Tremor, Parkinsonism, Ankle clonus ORPHA:521406
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Abnormality of extrapyramidal motor function, Gait ataxia, Rigidity,... ORPHA:101150
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Bradykinesia, Babinski sign, Hypertonia, Limb ataxia, Rigidity, Parkinsonism OMIM:618824
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Herpes simplex encephalitis, Recurrent herpes OMIM:610551
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Apraxia, Chorea, Gait ataxia, Intention tremor, Rigidity, Ataxia, Park... OMIM:607136
Parkinson Disease 19A, Juvenile-Onset
Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Rigidity, Parkinsonism, Abnormal ... OMIM:615528
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Abnormal pyramidal sign, Spastic tetraparesis, Bradykinesia OMIM:619052
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:616710
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Parkinsonism With Polyneuropathy
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:619279
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Bradykinesia, Chorea, Ataxia, Parkinsonism, Abnormal pyramidal sign, Dysmetria, Slurred speech OMIM:618317
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Resting tremor, Parkinsonism, Rigidity ORPHA:306692
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Rigidity ORPHA:228169
Dystonia 12
Bradykinesia, Parkinsonism, Tremor, Torticollis OMIM:128235
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Miscarriage, Infectious encephalitis, Conjunctivitis, Subcutaneou... ORPHA:448237
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Gait ataxia, Parkinsonism ORPHA:71517
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, 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
Dravet Syndrome
Bradykinesia, Cyanotic episode, Incoordination, Poor fine motor coordination, Cogwheel rigidity, ... ORPHA:33069
Cerebellar Ataxia, Cayman Type
Bradykinesia, Truncal ataxia, Intention tremor, Gait ataxia, Ataxia OMIM:601238
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Typhoid
Hypertonia, Skin rash, Tremor, Ataxia, Lethargy, Infectious encephalitis ORPHA:99745
Huntington Disease
Bradykinesia, Chorea, Rigidity, Gait ataxia OMIM:143100
Spinocerebellar Ataxia, Autosomal Recessive 32
Bradykinesia, Limb ataxia, Torticollis, Gait ataxia, Limb myoclonus, Postural tremor OMIM:619862
Huntington Disease-Like 1
Bradykinesia, Incoordination, Chorea, Poor fine motor coordination, Frequent falls, Gait ataxia, ... ORPHA:157941
Spinocerebellar Ataxia 2
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... OMIM:183090
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype... OMIM:616828
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency 37
Recurrent infections, Infectious encephalitis, Colitis OMIM:616098
Infantile Dystonia-Parkinsonism
Bradykinesia, Hypertonia, Limb hypertonia, Chorea, Cerebral palsy, Parkinsonism, Abnormal pyramid... ORPHA:238455
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Ch... OMIM:209920
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Herpes simplex encephalitis OMIM:616532
Corticobasal Syndrome
Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo... ORPHA:454887
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Rigidity, Parkinsonism, Spastic paraparesis ORPHA:329284
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication ORPHA:240085
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Rigidity, Tremor, Ataxia OMIM:617836
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Babinski sign, Recurrent respiratory infections OMIM:619063
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Bradykinesia, Apraxia, Spasticity, Rigidity, Parkinsonism OMIM:221820
Scrub Typhus
Myocarditis, Skin rash, Tremor, Anterior uveitis, Meningitis, Lethargy, Infectious encephalitis ORPHA:83317
Huntington Disease-Like 2
Action tremor, Chorea, Rigidity, Bradykinesia OMIM:606438
C1Q Deficiency 3
Recurrent bacterial meningitis, Discoid lupus rash OMIM:620322
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Ataxia, Parkinsonism, Choreoathetosis OMIM:261640
Leber Optic Atrophy And Dystonia
Bradykinesia, Spasticity, Athetosis, Upper motor neuron dysfunction OMIM:500001
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Dilated third ventricle, Cogwheel rigidity, Intention tremo... OMIM:619725
Neurocutaneous Melanocytosis
Dandy-Walker malformation, Death in infancy, Hemiparesis, Ventriculomegaly, Infectious encephalitis ORPHA:2481
Machado-Joseph Disease
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula... OMIM:109150
Complement Component 8 Deficiency, Type I
Meningitis OMIM:613790
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Bradykinesia, Hypertonia, Parkinsonism, Limb hypertonia OMIM:617384
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Recurrent infections, Herpes simplex encephalitis, Molluscum contagiosum,... OMIM:618982
Neurodegeneration With Brain Iron Accumulation 6
Spastic tetraplegia, Spastic paraparesis, Rigidity, Bradykinesia OMIM:615643
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Spasticity, Tremor, Ankle clonus, Abnormal pyramidal sign OMIM:617435
Cerebral Visual Impairment
Oculomotor apraxia, Hydrocephalus, Cerebral palsy, Unusual CNS infection, Clumsiness, Meningitis,... ORPHA:447788
Aspergillosis
Invasive pulmonary aspergillosis, Meningitis, Bronchiectasis, Sinusitis, Keratitis, Unusual CNS i... ORPHA:1163
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Autosomal Recessive Progressive External Ophthalmoplegia
Bradykinesia, Optic neuritis, Parkinsonism with favorable response to dopaminergic medication, Co... ORPHA:254886
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5
Herpes simplex encephalitis OMIM:614849
Avian Influenza
Myelitis, Miscarriage, Meningitis, Hypoxemia, Conjunctivitis, Pneumonia, Hepatitis, Infectious en... ORPHA:454836
Parkinson Disease 17
Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Pfapa Syndrome
Arthritis, Recurrent pharyngitis, Infectious encephalitis ORPHA:42642
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Lower limb spasticity, Oromotor apraxia, Spasticity, Paraparesis, Ataxia, Lateral v... OMIM:617854
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares... ORPHA:282166
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Torticollis, Spasticity, Parkinsonism with favorable res... OMIM:606693
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Chorea, Tremor, Cogwheel rigidity, Rigidity, Pa... OMIM:613135
Perching Syndrome
Cyanosis OMIM:617055
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Hypertonia, Hyperkinetic movements, Abnormality of extrapyramidal motor function, C... ORPHA:13
Spinocerebellar Ataxia 10
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Progressive cerebellar ataxia, Abn... OMIM:603516
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Parkinsonism ORPHA:412066
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, Spastic paraplegia, A... OMIM:300055
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Recurrent urinary tract infections, Men... OMIM:307200
Listeriosis
Miscarriage, Pericarditis, Pustule, Ataxia, Unusual CNS infection, Myoclonus, Cholecystitis, Myoc... ORPHA:533
Bacterial Toxic-Shock Syndrome
Myocarditis, Myositis, Recurrent urinary tract infections, Skin rash, Arthritis, Meningitis, Seve... ORPHA:36234
X-Linked Dystonia-Parkinsonism
Bradykinesia, Resting tremor, Chorea, Progressive extrapyramidal muscular rigidity, Parkinsonism ... ORPHA:53351
Meningococcal Meningitis
Purpura, Petechiae, Skin rash, Lethargy, Infectious encephalitis ORPHA:33475
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bl... OMIM:606324
Lymphoproliferative Syndrome, X-Linked, 1
Severe Epstein Barr virus infection, Recurrent pharyngitis, Fulminant hepatitis, Recurrent respir... OMIM:308240
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Reynolds Syndrome
Generalized abnormality of skin, Jaundice, Keratoconjunctivitis sicca, Arthritis, Skin rash, Tela... ORPHA:779
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Erythema, Thyroiditis, Skin rash, Angioedema, Pustule, Infectious encephalitis, Eryt... ORPHA:139402
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Incoordination, Poor fine motor coordination, Tremor, Ataxia ORPHA:36387
Dystonia 16
Bradykinesia, Retrocollis, Involuntary movements, Abnormal pyramidal sign, Parkinsonism, Postural... OMIM:612067
Hartnup Disease
Skin rash, Ataxia, Infectious encephalitis, Cutaneous photosensitivity ORPHA:2116
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Bradykinesia, Truncal ataxia, Incoordination, Episodic ataxia, Gait ataxia, Hemiparesis, Ataxia, ... OMIM:601338
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Tremor, Cerebral palsy, Rigidity ORPHA:70594
Multiple System Atrophy
Bradykinesia, Progressive cerebellar ataxia, Resting tremor, Frequent falls, Gait ataxia, Rigidit... ORPHA:102
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Recurrent pharyngitis, Pericarditis, Endocarditis, Ataxia, H... ORPHA:549
Huntington Disease
Bradykinesia, Babinski sign, Chorea, Poor fine motor coordination, Involuntary movements, Clonus,... ORPHA:399
Gm1 Gangliosidosis
Abnormality of extrapyramidal motor function, Decerebrate rigidity, Spasticity, Tremor, Aspiratio... ORPHA:354
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Tremor by anatomical site, Extrapyramidal muscular rigidity, Tr... ORPHA:99750
Whipple Disease
Myocarditis, Hydrocephalus, Arthritis, Myositis, Pericarditis, Ataxia, Myoclonus, Abnormal pyrami... ORPHA:3452
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidit... OMIM:618877
Atypical Juvenile Parkinsonism
Bradykinesia, Resting tremor, Gait ataxia, Involuntary movements, Slowed slurred speech, Rigidity... ORPHA:391411
Familial Hemophagocytic Lymphohistiocytosis
Purpura, Jaundice, Maculopapular exanthema, Petechiae, Skin rash, Ecchymosis, Erythroderma, Bruis... ORPHA:540
Multiple System Atrophy, Parkinsonian Type
Bradykinesia, Progressive cerebellar ataxia, Resting tremor, Frequent falls, Gait ataxia, Rigidit... ORPHA:98933
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bradykinesia, Babinski sign, Spasticity, Frequent falls, Rigidity, Parkinsonism, Spastic parapare... ORPHA:289560
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity, Ataxia, Parkins... OMIM:606159
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Clumsiness, Postural tremor OMIM:619911
Hyperlipoproteinemia, Type I
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Multiple System Atrophy, Cerebellar Type
Bradykinesia, Limb ataxia, Progressive cerebellar ataxia, Resting tremor, Frequent falls, Gait at... ORPHA:227510
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Resting tremor, Poor fine motor coordination, Dysdiadochokinesis, Gait ataxia, Acti... OMIM:300623
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertonia, Jaundice, Tetraplegia, Ataxia, Hemiplegia, Meningitis, Infectious encephalitis OMIM:267700
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Sporadic Infantile Bilateral Striatal Necrosis
Bradykinesia, Babinski sign, Progressive extrapyramidal muscular rigidity, Chorea, Resting tremor... ORPHA:225147
Spinocerebellar Ataxia Type 1
Bradykinesia, Progressive cerebellar ataxia, Fasciculations, Chorea, Dysdiadochokinesis, Postural... ORPHA:98755
Lyme Disease
Arthritis, Meningitis, Infectious encephalitis, Uveitis ORPHA:91546
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Infectious encephalitis, Death in infancy ORPHA:1194
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertonia, Jaundice, Skin rash, Tetraplegia, Ataxia, Hemiplegia, Meningitis, Infectious encephal... OMIM:603553
Congenital Enterovirus Infection
Myocarditis, Skin rash, Meningitis, Ventriculomegaly, Hepatitis, Infectious encephalitis ORPHA:292
Rift Valley Fever
Jaundice, Decerebrate rigidity, Skin rash, Miscarriage, Paraparesis, Severe viral infection, Hemi... ORPHA:319251
Hereditary Methemoglobinemia
Hypertonia, Spasticity, Athetosis, Spastic tetraplegia, Cyanosis ORPHA:621
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Increased circu... OMIM:144650
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Japanese Encephalitis
Pill-rolling tremor, Hypertonia, Paralysis, Respiratory paralysis, Abnormality of extrapyramidal ... ORPHA:79139
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Immunoglobulin A Vasculitis
Purpura, Erythema, Vascular skin abnormality, Arthritis, Skin rash, Episcleritis, Angioedema, Hem... ORPHA:761
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... OMIM:137440
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Scissor gait, Spasticity, Tremor, Lower limb hypertonia, Opisthotonu... OMIM:617013
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia ORPHA:79237
Encephalopathy, Ethylmalonic
Babinski sign, Abnormality of extrapyramidal motor function, Petechiae, Death in infancy, Ataxia,... OMIM:602473
Hypermanganesemia With Dystonia 1
Bradykinesia, Abnormality of extrapyramidal motor function, Poor fine motor coordination, Tremor,... OMIM:613280
Laron Syndrome
Hypercholesterolemia ORPHA:633
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Adult-Onset Nemaline Myopathy
Bradykinesia ORPHA:171442
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Cogwheel rigidity, Gait... OMIM:600116
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Pneumocystis carinii pneumonia, Recurrent lower respiratory tract infec... OMIM:308230
Benign Familial Infantile Epilepsy
Limb myoclonus, Hypertonia, Cyanosis ORPHA:306
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Bradykinesia, Babinski sign, Limb ataxia, Truncal ataxia, Intention tremor, Gait ataxia, Rigidity... OMIM:258450
Autosomal Dominant Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Torticollis, Abnormality of extrapyramidal motor function, Gait atax... ORPHA:98808
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Breath-Holding Spells
Cyanosis OMIM:607578
Lymphoproliferative Syndrome 2
EBV encephalitis, Persistent EBV viremia, Recurrent infections, Severe varicella zoster infection... OMIM:615122
Agammaglobulinemia, X-Linked
Recurrent otitis media, Pyoderma, Prostatitis, Recurrent lower respiratory tract infections, Recu... OMIM:300755
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Co... OMIM:311510
Poliomyelitis
Hyperkinetic movements, Myelitis, Fasciculations, Paraparesis, Paralysis, Meningitis, Infectious ... ORPHA:2912
Childhood-Onset Nemaline Myopathy
Clumsiness, Bradykinesia ORPHA:171439
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Tremor, Rigidity, Parkinsonism, Spastic paraparesis OMIM:300894
Alexander Disease
Aqueductal stenosis, Hydrocephalus, Chorea, Tetraplegia, Tremor, Spasticity, Clonus, Ataxia, Abno... ORPHA:58
New-Onset Refractory Status Epilepticus
Infectious encephalitis ORPHA:363558
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Slowed slurred speech OMIM:619827
Acute Disseminated Encephalomyelitis
Severe Epstein Barr virus infection, Myelitis, Herpes simplex encephalitis, Optic neuritis, Sever... ORPHA:83597
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis, Recurrent aphthous stomatitis OMIM:614850
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Parkinson Disease 8, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607060
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Progressive extrapyramidal muscular rigidity, Parkinsonism with favorable response ... ORPHA:240071
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Postencephalitic Parkinsonism
Bradykinesia, Babinski sign, Resting tremor, Tremor by anatomical site, Cogwheel rigidity, Involu... ORPHA:97349
Q Fever
Myocarditis, Purpura, Meningitis, Hepatitis, Pericarditis, Osteomyelitis, Infectious encephalitis... ORPHA:781
American Trypanosomiasis
Myocarditis, Skin rash, Infectious encephalitis ORPHA:3386
Neonatal Alloimmune Neutropenia
Jaundice, Miscarriage, Pneumonia, Meningitis, Severe infection ORPHA:464370
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypertonia, Cyanotic episode, Spastic tetraparesis, Lateral ventricle dilatation, Myoclonus ORPHA:284417
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Laryngeal Abductor Paralysis
Cyanosis, Vocal cord paralysis OMIM:150260
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Manganese Poisoning
Bradykinesia, Hypertonia, Abnormality of extrapyramidal motor function, Cogwheel rigidity, Postur... ORPHA:306682
Autosomal Recessive Spastic Paraplegia Type 77
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Intention tremor, Myoclonus, We... ORPHA:466722
Microsporidiosis
Myocarditis, Prostatitis, Pancreatitis, Cholangitis, Myositis, Thyroiditis, Keratoconjunctivitis,... ORPHA:2552
Ethylmalonic Encephalopathy
Abnormality of extrapyramidal motor function, Petechiae, Ataxia, Acrocyanosis, Abnormal pyramidal... ORPHA:51188
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Nocardiosis
Scleritis, Thyroiditis, Meningitis, Lymphadenitis, Severe infection, Pericarditis, Keratitis, Unu... ORPHA:31204
Spinocerebellar Ataxia Type 13
Bradykinesia, Limb ataxia, Torticollis, Titubation, Gait ataxia, Myoclonus, Clumsiness ORPHA:98768
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Pneumonia, Recurrent respiratory infections, Cyanosis, Brain abscess OMIM:610910
Spinocerebellar Ataxia Type 8
Bradykinesia, Limb ataxia, Spastic dysarthria, Spasticity, Gait ataxia, Rigidity, Ataxia ORPHA:98760
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Hypertonia, Recurrent otitis media, Opisthotonus, Patent ductus arteriosus, Cyanosis ORPHA:3304
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Babinski sign, Spasticity, Intention tremor, Rigidity, Parkinsonism, Myoclonus, Abn... ORPHA:171695
Benign Familial Neonatal Epilepsy
Limb myoclonus, Circumoral cyanosis, Clonus ORPHA:1949
Zygomycosis
Myocarditis, Unusual skin infection, Fasciitis, Pancreatitis, Gastritis, Acute infectious pneumon... ORPHA:73263
Perry Syndrome
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:168605
Neuroferritinopathy
Bradykinesia, Babinski sign, Resting tremor, Chorea, Blepharospasm, Involuntary movements, Parkin... ORPHA:157846
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Incontinentia Pigmenti
Erythema, Skin rash, Spasticity, Hemiplegia/hemiparesis, Keratitis, Telangiectasia of the skin, I... ORPHA:464
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Ankle clonus, Resting tremor, Spasticity, Tr... OMIM:612953
Behçet Disease
Pancreatitis, Recurrent aphthous stomatitis, Myositis, Optic neuritis, Arthritis, Meningitis, Inc... ORPHA:117
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperapobe... OMIM:210250
Brucellosis
Myocarditis, Purpura, Hip osteoarthritis, Arteritis, Knee osteoarthritis, Arthritis, Chorea, Misc... ORPHA:1304
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest... OMIM:278000
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Tremor, Opisthotonus, Cyanosis OMIM:250800
Chiari Malformation Type Ii
Hydrocephalus, Cyanosis, Ataxia, Opisthotonus OMIM:207950
Complement Component 4B Deficiency
Recurrent otitis media, Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Menin... OMIM:614379
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Hsd10 Disease, Infantile Type
Hyperkinetic movements, Cyanosis, Spastic tetraparesis, Poor coordination, Choreoathetosis, Spast... ORPHA:391428
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Spastic paraplegia, Recurrent urinary tract infections, Infectious encephalitis, Death in infancy ORPHA:847
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections OMIM:263000
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ga... OMIM:157640
Congenital Heart Block
Cyanosis, Patent ductus arteriosus ORPHA:60041
Primary Progressive Freezing Gait
Bradykinesia, Babinski sign, Frequent falls, Clonus, Rigidity, Postural tremor ORPHA:75567
Neurodegeneration With Brain Iron Accumulation 2B
Bradykinesia, Babinski sign, Hypertonia, Chorea, Spasticity, Dysdiadochokinesis, Gait ataxia, Int... OMIM:610217
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
Unusual skin infection, Sinusitis, Pustule, Hemiparesis, Ataxia, Pneumonia, Lethargy, Infectious ... ORPHA:68
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:168600
Scedosporiosis
Unusual skin infection, Invasive fungal infection, Sinusitis, Pericarditis, Severe infection, Art... ORPHA:449280
Immunodeficiency 59 And Hypoglycemia
Recurrent lower respiratory tract infections, Recurrent aphthous stomatitis, Arteritis, Herpes si... OMIM:233600
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Deep dermatophytosis, Chronic tinea infection, Onychomycosis, Phaeohyph... OMIM:212050
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Thyroiditis, Recurrent infections, Chronic mucocutaneous candid... ORPHA:391487
Chikungunya
Erythema, Cutaneous photosensitivity, Petechiae, Arthritis, Skin rash, Synovitis, Enthesitis, Inf... ORPHA:324625
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Limb hypertonia, Gait ataxia, Ataxia, Opisthotonus, Ventriculomegaly, Choreoathetosis OMIM:619580
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive secondary to recurrent infections, Arthritis, Purulent rhinitis, Oti... OMIM:601457
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Congenital Disorder Of Glycosylation, Type Iiaa
Hyperammonemia, Hypercholesterolemia OMIM:620454
Adult-Onset Dystonia-Parkinsonism
Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor... ORPHA:199351
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Myoclonus OMIM:168601
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Cyanosis ORPHA:70587
Hyperimmunoglobulinemia D With Periodic Fever
Purpura, Recurrent aphthous stomatitis, Arthritis, Urticaria, Ataxia, Peritonitis, Acrocyanosis, ... ORPHA:343
Progressive Supranuclear Palsy
Bradykinesia, Rigidity, Tremor, Blepharospasm ORPHA:683
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Bradykinesia, Hypertonia, Jaundice, Truncal ataxia, Poor fine motor coordination, Dysdiadochokine... ORPHA:309854
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Autosomal Dominant Progressive External Ophthalmoplegia
Bradykinesia, Hypertonia, Resting tremor, Abnormality of extrapyramidal motor function, Tremor, F... ORPHA:254892
Congenital Pulmonary Lymphangiectasia
Cyanosis ORPHA:2414
Selective Igm Deficiency
Crohn's disease, Recurrent vulvovaginal candidiasis, Onychomycosis, Severe varicella zoster infec... ORPHA:331235
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory infections, Meningitis, Recurr... OMIM:613500
Young-Onset Parkinson Disease
Bradykinesia, Rigidity, Tremor, Spasticity ORPHA:2828
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Bruising susceptibility, Cyanosis, Opisthotonus ORPHA:335
Immunodeficiency 66
Recurrent skin infections, Pustule, Meningitis OMIM:618847
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Tremor, Rigidity, Ataxia, Parkinsonism OMIM:146500
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Eosinophilic Fasciitis
Myositis, Arthritis, Fasciitis, Acrocyanosis ORPHA:3165
Hereditary Late-Onset Parkinson Disease
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Fr... ORPHA:411602
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Truncal ataxia, Acrocyanosis, Intention tremor OMIM:614407
Fragile X-Associated Tremor/Ataxia Syndrome
Bradykinesia, Intention tremor, Gait ataxia, Rigidity, Ataxia, Parkinsonism, Dysmetria ORPHA:93256
Laryngotracheal Angioma
Cyanosis ORPHA:137935
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Ventriculomegaly, Tubulointerstitial nephritis, Cyanosis, Lateral ventricle dilatation ORPHA:488627
Isolated Agammaglobulinemia
Pneumonia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Sinusitis, Otitis media, Re... ORPHA:229717
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Involuntary movements, Rigidity, Parkinsonism, Eyelid apraxia OMIM:615530
Sepsis In Premature Infants
Purpura, Jaundice, Petechiae, Invasive fungal infection, Enterocolitis, Disseminated viral infect... ORPHA:90051
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Recurrent bronchitis, Recurrent pneumonia, Recurrent sinusitis, Conjuncti... OMIM:240500
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:79240
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Cysticercosis
Infectious encephalitis, Ataxia, Iridocyclitis, Upper motor neuron dysfunction ORPHA:1560
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Cyanosis ORPHA:2004
Idiopathic Pulmonary Fibrosis
Bronchiectasis, Orthodeoxia, Acrocyanosis ORPHA:2032
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Autosomal Agammaglobulinemia
Chronic otitis media, Recurrent infections, Arthritis, Skin rash, Meningitis, Sinusitis, Conjunct... ORPHA:33110
Primary Pulmonary Hypoplasia
Hypoxemia, Recurrent respiratory infections, Cyanosis ORPHA:2257
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Aicardi-Goutieres Syndrome 1
Purpura, Abnormality of extrapyramidal motor function, Petechiae, Spasticity, Chilblains, Prolong... OMIM:225750
Neurodegeneration With Brain Iron Accumulation 1
Bradykinesia, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity, Tremor, Bl... OMIM:234200
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Patent ductus arteriosus ORPHA:860
Pulmonary Arteriovenous Malformation
Recurrent abscess formation, Bacterial endocarditis, Hypoxemia, Cyanosis, Telangiectasia, Brain a... ORPHA:2038
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Asbestos Intoxication
Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:264580
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Blepharospasm, Upper motor neuron dysfunction, Eyelid ap... ORPHA:306674
Immunodeficiency 46
Chronic oral candidiasis, Meningitis, Recurrent sinopulmonary infections, Conjunctivitis OMIM:616740
Rett Syndrome
Bradykinesia, Limb apraxia, Cholecystitis ORPHA:778
Hypocomplementemic Urticarial Vasculitis
Inflammatory abnormality of the eye, Arthritis, Skin rash, Cerebral palsy, Episcleritis, Angioede... ORPHA:36412
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Purpura, Myositis, Arthritis, Skin rash, Sinusitis, Hemiplegia/hemiparesis, Urticari... ORPHA:183
Tularemia
Pneumonia, Inflammatory abnormality of the eye, Skin rash, Otitis media, Conjunctivitis, Erythema... ORPHA:3392
Complement Factor B Deficiency
Recurrent meningococcal disease, Peritonitis, Pneumonia, Meningitis, Recurrent bacterial infections OMIM:615561
Tetrasomy 5P
Hydrocephalus, Recurrent respiratory infections, Cyanosis ORPHA:3309
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Babinski sign, Spastic tetraparesis OMIM:614924
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Neonatal death, Death in infancy OMIM:265120
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypertonia, Death in childhood, Recurrent lower respiratory tract infections, Spasticity, Death i... OMIM:618426
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Recurrent lower respiratory tract infections, Infectious encephalitis, Recurrent upper ... ORPHA:293987
Postinfectious Vasculitis
Recurrent Staphylococcus aureus infections, Severe varicella zoster infection, Cutis marmorata, P... ORPHA:48435
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Acute Interstitial Pneumonia
Bronchiectasis, Hypoxemia, Cyanosis ORPHA:79126
Necrotizing Enterocolitis
Cyanosis, Lethargy, Peritonitis ORPHA:391673
Choanal Atresia
Recurrent respiratory infections, Cyanosis, Chronic sinusitis ORPHA:137914
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Recurrent candida infections, Recurrent Staphyloc... ORPHA:83471
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev... ORPHA:470
Surfactant Metabolism Dysfunction, Pulmonary, 3
Nonspecific interstitial pneumonia, Death in infancy, Hypoxemia, Neonatal death, Cyanosis OMIM:610921
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Cerebral arteriovenous malformation, Vascular skin abnormality, Telangiectasia ORPHA:137667
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Conjugated hyperbilirubinemia... ORPHA:186
Waardenburg Syndrome Type 3
Spastic paraplegia, Acrocyanosis ORPHA:896
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinusitis, Meningitis OMIM:619707
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Pneumonia, Skin rash, Recurrent pneumonia, Recurrent bacterial meningit... OMIM:300400
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypertonia, Myoclonus, Exaggerated startle response, Ankle clonus, Cyanosis, Lethargy OMIM:620423
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Sinusitis, Rhinitis, Recurrent upper and lower respiratory tract infections, O... ORPHA:70593
Acquired Purpura Fulminans
Macular purpura, Skin rash, Acrocyanosis ORPHA:49566
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu... OMIM:610984
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis ORPHA:444013
Double Outlet Right Ventricle
Truncus arteriosus, Cyanosis ORPHA:3426
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Lethargy ORPHA:159
Fucosidosis
Vascular skin abnormality, Spasticity, Abnormal pyramidal sign, Acrocyanosis, Spastic tetraplegia ORPHA:349
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Choreoacanthocytosis
Bradykinesia, Hypertonia, Hyperkinetic movements, Resting tremor, Arthritis, Chorea, Blepharospas... ORPHA:2388
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis, Ataxia ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis, Ataxia ORPHA:98914
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Acrocyanosis ORPHA:1867
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Oral cavity telangiectasia, Nail bed telangiectasia, Lip telangiectasia, G... OMIM:600376
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:176270
Surfactant Metabolism Dysfunction, Pulmonary, 2
Nonspecific interstitial pneumonia, Hypoxemia, Recurrent pneumonia, Bronchiectasis, Interstitial ... OMIM:610913
Aicardi-Goutières Syndrome
Hypertonia, Panniculitis, Myositis, Arthritis, Extrapyramidal muscular rigidity, Tremor, Abnormal... ORPHA:51
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Palate telangiectasia, Lip telangiectasia, Miscar... OMIM:187300
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Hypercholesterolemia ORPHA:275761
Supranuclear Palsy, Progressive, 2
Bradykinesia, Retrocollis, Rigidity, Parkinsonism, Eyelid apraxia, Postural tremor OMIM:609454
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Truncus arteriosus, Cyanosis OMIM:617478
X-Linked Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Meningitis, Sinusitis, Recurrent pneumonia, Conjuncti... ORPHA:47
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Skin rash, Meningitis, Urticaria OMIM:616050
Progressive Multifocal Leukoencephalopathy
Gait ataxia, Hemiplegia/hemiparesis, Parkinsonism, Weakness due to upper motor neuron dysfunction... ORPHA:217260
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Lip telangiectasia, Nasal mucosa telangiectasia, Conjunctival telangiectas... OMIM:610655
Mitochondrial Complex I Deficiency, Nuclear Type 1
Babinski sign, Tongue fasciculations, Spasticity, Death in infancy, Ataxia, Cyanosis, Lethargy OMIM:252010
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Supranuclear Palsy, Progressive, 1
Bradykinesia, Retrocollis, Tremor, Rigidity, Parkinsonism, Eyelid apraxia OMIM:601104
Fusariosis
Panniculitis, Maculopapular exanthema, Myositis, Arthritis, Invasive fungal infection, Onychomyco... ORPHA:228119
Unilateral Polymicrogyria
Poor fine motor coordination, Involuntary movements, Hemiparesis, Myoclonus, Spastic tetraplegia,... ORPHA:268943
Aplasia Cutis-Myopia Syndrome
Meningitis ORPHA:1117
Ethylene Glycol Poisoning
Gastritis, Ataxia, Myoclonus, Cyanosis, Slurred speech ORPHA:31826
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Hypercholesterolemia ORPHA:79259
Complete Atrioventricular Septal Defect
Recurrent pneumonia, Lethargy, Cyanosis ORPHA:1329
Absence Of The Pulmonary Artery
Truncus arteriosus, Recurrent pneumonia, Patent ductus arteriosus, Bronchiectasis, Recurrent resp... ORPHA:980
Follicular Lymphoma
Meningitis ORPHA:545
Parkes Weber Syndrome
Paraplegia, Prominent superficial blood vessels, Cerebral arteriovenous malformation ORPHA:90307
Myasthenia Gravis
Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Acrocyanosis, Hepatitis ORPHA:589
Cinca Syndrome
Purpura, Inflammatory abnormality of the eye, Meningitis, Urticaria, Retrobulbar optic neuritis, ... ORPHA:1451
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Recurrent respiratory infections, Recurrent infections, Thyroiditis, Myositis, Meningi... ORPHA:37042
Cinca Syndrome
Arthritis, Skin rash, Meningitis, Uveitis OMIM:607115
Arachnoiditis
Hydrocephalus, Meningitis ORPHA:137817
Histiocytoid Cardiomyopathy
Hydrocephalus, Hemiplegia, Cyanosis, Lethargy ORPHA:137675
Congenital Syphilis
Myocarditis, Purpura, Pancreatitis, Hydrocephalus, Petechiae, Synovitis, Prolonged neonatal jaund... ORPHA:499009
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Congenital Tracheomalacia
Patent ductus arteriosus, Bronchiectasis, Recurrent upper respiratory tract infections, Pneumonia... ORPHA:95430
Angiostrongyliasis
Ventriculomegaly, Meningitis, Unusual CNS infection ORPHA:74
Criss-Cross Heart
Cyanosis ORPHA:1461
Gorham-Stout Disease
Meningitis, Torticollis, Osteomyelitis ORPHA:73
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent f... ORPHA:169090
Rat-Bite Fever
Morbilliform rash, Myocarditis, Pancreatitis, Arthritis, Skin rash, Parotitis, Meningitis, Lympha... ORPHA:31205
Chronic Granulomatous Disease
Inflammatory abnormality of the eye, Cutaneous photosensitivity, Eczematoid dermatitis, Sinusitis... ORPHA:379
Esophageal Atresia
Hypertonia, Esophagitis, Vocal cord paresis, Recurrent respiratory infections, Cyanosis ORPHA:1199
Tarp Syndrome
Cyanosis, Athetoid cerebral palsy ORPHA:2886
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Cyanosis ORPHA:555874
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Incoordination, Acrocyanosis, Recurrent infections due to aspiration OMIM:223900
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Aortopulmonary window, Cyanosis, Patent ductus arteriosus ORPHA:99050
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypophosphatemia, Hyperaldosteronism, Hypercholesterolemia, Hypoammonemia ORPHA:534
Meckel Syndrome 14
Cyanosis OMIM:619879
Immunodeficiency 68
Septic arthritis, Recurrent skin infections, Recurrent meningitis, Lymphadenitis OMIM:612260
Double Outlet Left Ventricle
Cyanosis, Patent ductus arteriosus ORPHA:3427
Mixed Connective Tissue Disease
Myocarditis, Purpura, Gastritis, Myositis, Arthritis, Skin rash, Pericarditis, Meningitis, Kerato... ORPHA:809
Phace Syndrome
Dandy-Walker malformation, Cerebral arteriovenous malformation, Hemiplegia/hemiparesis ORPHA:42775
Familial Dysautonomia
Recurrent respiratory infections, Ataxia, Acrocyanosis ORPHA:1764
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Spontaneous hematomas, Retinal telangiectasia, Lip telangiectasia, Nasal m... ORPHA:774
Eisenmenger Syndrome
Bacterial endocarditis, Aortopulmonary window, Hypoxemia, Patent ductus arteriosus, Cyanosis, Let... ORPHA:97214
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Whim Syndrome
Limb ataxia, Severe periodontitis, Parotitis, Poor fine motor coordination, Lymphadenitis, Bronch... ORPHA:51636
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus, Cyanosis OMIM:261740
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Aqueductal stenosis, Cyanosis, Patent ductus arteriosus OMIM:306955
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Cyanosis, Recurrent bacterial infections ORPHA:99104
Coccidioidomycosis
Morbilliform rash, Coccidioidal meningitis, Pneumonia, Pancreatitis, Panniculitis, Hydrocephalus,... ORPHA:228123
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation, Telangiectasia OMIM:175050
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Cyanosis ORPHA:99106
Cardiogenic Shock
Hypoxemia, Cyanosis ORPHA:97292
Pulmonary Alveolar Microlithiasis
Bronchiectasis, Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:60025
Tick-Borne Encephalitis
Hyperkinetic movements, Myelitis, Tongue fasciculations, Incoordination, Tremor, Speech apraxia, ... ORPHA:297
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Elevated amniotic fluid alpha-fetoprotein, Hypercholesterolemia, Elevated circula... OMIM:309000
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Aortic Arch Interruption
Truncus arteriosus, Aortopulmonary window, Cyanosis, Patent ductus arteriosus ORPHA:2299
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Cyanosis, Recurrent bacterial infections ORPHA:99103
Immunodeficiency 67
Septic arthritis, Recurrent staphylococcal infections, Meningitis, Recurrent streptococcal infect... OMIM:607676
Pitt-Hopkins Syndrome
Acrocyanosis, Ataxia, Esophagitis, Gait ataxia ORPHA:2896
Poems Syndrome
Plethora, Acrocyanosis ORPHA:2905
Wiskott-Aldrich Syndrome
Chronic otitis media, Spontaneous hematomas, Purpura, Petechiae, Arthritis, Eczematoid dermatitis... ORPHA:906
Trichorhinophalangeal Syndrome, Type Ii
Recurrent otitis media, Chronic gastritis, Hemiparesis, Recurrent pneumonia, Recurrent upper resp... OMIM:150230
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Acute Transverse Myelitis
Babinski sign, Paraplegia, Invasive parasitic infection, Abnormality of extrapyramidal motor func... ORPHA:139417
Hydranencephaly
Opisthotonus, Ventriculomegaly, Meningitis, Lethargy, Spastic diplegia ORPHA:2177
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Dermatomyositis
Myocarditis, Facial erythema, V-sign, Cutaneous photosensitivity, Myositis, Arthritis, Skin rash,... ORPHA:221
Trichinellosis
Babinski sign, Skin rash, Hemiparesis, Conjunctivitis, Hemiplegia, Meningitis, Lethargy ORPHA:863
Giant Cell Arteritis
Recurrent pharyngitis, Arthritis, Pericarditis, Ataxia, Meningitis ORPHA:397
Juvenile Polyposis Syndrome
Mucosal telangiectasiae, Cerebral arteriovenous malformation, Brain abscess ORPHA:2929
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Congenital Tracheal Stenosis
Cyanosis, Patent ductus arteriosus ORPHA:141127
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Recurrent infections, Skin rash, Inflammation of the large intestine, Blepharitis, Recurrent pneu... OMIM:617718
Granulomatosis With Polyangiitis
Chronic otitis media, Purpura, Prostatitis, Pancreatitis, Inflammatory abnormality of the eye, Sk... ORPHA:900
Primary Sjögren Syndrome
Purpura, Arteritis, Chronic active hepatitis, Myositis, Optic neuritis, Thyroiditis, Arthritis, P... ORPHA:289390
Familial Mediterranean Fever
Pancreatitis, Arthritis, Skin rash, Pericarditis, Erysipelas, Osteoarthritis, Peritonitis, Orchit... ORPHA:342
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini... OMIM:619534
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Premature skin wrinkling, Prominent superficial blood vessels, O... ORPHA:740
Truncus Arteriosus
Truncus arteriosus, Cyanosis, Patent ductus arteriosus ORPHA:3384
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pancreatitis, Acute colitis, Severe viral infection, Hemiparesis, Septic arthritis, ... ORPHA:544482
Cryptococcosis
Prostatitis, Hydrocephalus, Peritonitis, Pneumonia, Meningitis, Osteomyelitis ORPHA:1546
Kawasaki Disease
Myocarditis, Cheilitis, Jaundice, Recurrent pharyngitis, Arthritis, Skin rash, Meningitis, Perica... ORPHA:2331
Leukocyte Adhesion Deficiency
Perianal abscess, Severe periodontitis, Sinusitis, Chronic oral candidiasis, Recurrent aphthous s... ORPHA:2968
Wiskott-Aldrich Syndrome
Purpura, Recurrent otitis media, Recurrent lower respiratory tract infections, Petechiae, Recurre... OMIM:301000