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Gene: Robo3 MGI:1343102

Gene Summary

Name:

roundabout guidance receptor 3

Synonyms:

Robo3b, Rig-1, Robo3a, Rig1, Rbig1

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	Allele	Zyg	Life Stage	P Value
increased circulating bilirubin level	Robo3^em1(IMPC)H	HET	Early adult	1.90×10^-06
increased heart weight	Robo3^em1(IMPC)H	HET	Early adult	1.08×10^-05
preweaning lethality, complete penetrance	Robo3^em1(IMPC)H	HOM	Early adult	0.00
abnormal retina morphology	Robo3^em1(IMPC)H	HET	Early adult	1.52×10^-11

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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.

MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

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MicroCT E18.5

Embryo reconstruction

4 Images

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Human diseases caused by Robo3 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.

Human diseases associated with Robo3 (2 diseases)
Human diseases predicted to be associated with Robo3 (520 diseases)

The table below shows human diseases associated to Robo3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Horizontal Gaze Palsy With Progressive Scoliosis			ORPHA:2744
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1			OMIM:607313

The table below shows human diseases predicted to be associated to Robo3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Neuropathy, Hereditary Sensory, Atypical	Ataxia, Babinski sign, Sensory ataxia	OMIM:256860
Charcot-Marie-Tooth Disease, Axonal, Type 2V	Paresthesia, Sensory ataxia, Distal sensory impairment	OMIM:616491
Ataxia, Sensory, 1, Autosomal Dominant	Babinski sign, Positive Romberg sign, Sensory ataxia, Gait instability, worse in the dark	OMIM:608984
Spinocerebellar Ataxia, X-Linked 2	Ataxia, Abnormality of extrapyramidal motor function	OMIM:302600
Posterior Column Ataxia	Impaired proprioception, Impaired vibratory sensation, Ataxia	OMIM:176250
Tapetoretinal Degeneration With Ataxia	Ataxia	OMIM:272600
Ataxia-Oculomotor Apraxia Type 1	Gait disturbance, Ataxia	ORPHA:1168
Cerebellar Ataxia, Benign, With Thermoanalgesia	Impaired temperature sensation, Progressive cerebellar ataxia	OMIM:212890
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia	Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Episodic ataxia	OMIM:168885
Episodic Ataxia Type 5	Ataxia, Truncal ataxia	ORPHA:211067
Ataxia-Deafness-Retardation Syndrome	Ataxia	OMIM:208850
Atonic-Astatic Syndrome Of Foerster	Abasia, Ataxia, Inability to walk	OMIM:209100
Spinocerebellar Ataxia Type 4	Ataxia, Impaired vibratory sensation, Gait disturbance, Impaired proprioception, Impaired tactile...	ORPHA:98765
Ataxia With Fasciculations	Fasciculations, Ataxia	OMIM:108700
Cholesterol Pneumonia	Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia	OMIM:215030
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3	Tremor, Ataxia, Slurred speech	OMIM:613227
Spastic Ataxia With Congenital Miosis	Ataxia, Hemiplegia/hemiparesis, Spastic ataxia	ORPHA:1182
Spinocerebellar Ataxia Type 23	Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s...	ORPHA:101108
Neuhauser-Eichner-Opitz Syndrome	Hypertonia, Ataxia, Rigidity, Spasticity	ORPHA:2672
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia	Episodic ataxia	ORPHA:1179
Episodic Ataxia, Type 7	Episodic ataxia	OMIM:611907
Myoclonus, Familial, 1	Frequent falls, Ataxia, Falls, Myoclonus	OMIM:614937
Cerebellar Ataxia And Neurosensory Deafness	Ataxia	OMIM:212850
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome	Ataxia	ORPHA:1180
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Spinocerebellar Ataxia 45	Ataxia, Gait ataxia, Limb ataxia	OMIM:617769
Spinocerebellar Ataxia 41	Ataxia, Unsteady gait	OMIM:616410
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration	Ataxia	OMIM:242520
Episodic Ataxia, Type 8	Intention tremor, Ataxia, Slurred speech, Episodic ataxia	OMIM:616055
Spinocerebellar Ataxia Type 30	Gait ataxia, Limb ataxia	ORPHA:211017
Cataract-Ataxia-Deafness-Retardation Syndrome	Ataxia, Distal sensory impairment	OMIM:212710
Tremor Of Intention, Ataxia, And Lipofuscinosis	Intention tremor, Ataxia	OMIM:190200
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency	Gait ataxia, Limb ataxia	ORPHA:284282
Spinocerebellar Ataxia, Autosomal Recessive 25	Ataxia, Babinski sign, Truncal ataxia, Dysmetria	OMIM:617584
Cerebellar Ataxia And Albinism	Ataxia, Head tremor	OMIM:258300
Cerebellar Ataxia, Cayman Type	Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Gait ataxia	ORPHA:94122
Spinocerebellar Ataxia Type 41	Gait ataxia	ORPHA:458798
Cerebral Palsy, Ataxic, Autosomal Recessive	Broad-based gait, Cerebral palsy, Dysdiadochokinesis	OMIM:605388
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Ataxia	OMIM:136600
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Increased serum bile acid concentration, Abnormal circulating bilirubin concentration	OMIM:619874
Autosomal Spastic Paraplegia Type 30	Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dysfunction, Progressive spasti...	ORPHA:101010
Apnea, Central Sleep	Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration	OMIM:207720
Myoclonus, Cerebellar Ataxia, And Deafness	Myoclonus, Ataxia	OMIM:159800
Spinocerebellar Ataxia Type 15/16	Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a...	ORPHA:98769
Retinoschisis, Autosomal Dominant	Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis	OMIM:180270
X-Linked Spinocerebellar Ataxia Type 4	Difficulty walking, Abnormal pyramidal sign, Progressive cerebellar ataxia, Postural tremor	ORPHA:85292
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Spinocerebellar Ataxia 20	Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor	OMIM:608687
Cyanosis And Hepatic Disease	Dyspnea, Cyanosis	OMIM:219400
Mitochondrial Complex Iv Deficiency, Nuclear Type 17	Spastic tetraparesis, Ataxia	OMIM:619061
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Ataxia, Deafness, And Cardiomyopathy	Ataxia	OMIM:208750
Stargardt Disease 1	Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration	OMIM:248200
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Splenomegaly	OMIM:179700
Spinocerebellar Ataxia 38	Ataxia, Gait ataxia, Limb ataxia	OMIM:615957
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome	Apraxia, Ataxia	ORPHA:85338
Lethal Congenital Contracture Syndrome 3	Respiratory insufficiency, Neonatal death	OMIM:611369
Laryngotracheal Angioma	Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor	ORPHA:137935
Lichtenstein-Knorr Syndrome	Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia	OMIM:616291
Spinocerebellar Ataxia 31	Ataxia, Gait ataxia, Limb ataxia	OMIM:117210
Spinocerebellar Ataxia 37	Frequent falls, Tremor, Ataxia, Unsteady gait	OMIM:615945
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Conjugated hyperbilirubinemia, Increased serum bi...	OMIM:620010
Hypercholanemia, Familial, 2	Unconjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619256
Spinocerebellar Ataxia, Autosomal Recessive 24	Spastic gait, Gait ataxia, Limb ataxia	OMIM:617133
Spinocerebellar Ataxia 35	Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab...	OMIM:613908
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Spinocerebellar Ataxia 11	Progressive cerebellar ataxia	OMIM:604432
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramidal sign, Truncal ataxia, F...	ORPHA:95434
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ...	OMIM:616053
Phosphoserine Aminotransferase Deficiency	Apnea, Death in infancy, Cyanotic episode	OMIM:610992
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Ataxia, Inability to walk	OMIM:619333
Spinocerebellar Ataxia, Autosomal Recessive 22	Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe...	OMIM:616948
Polymyoclonus, Infantile	Ataxia, Myoclonus	OMIM:263550
Spinocerebellar Ataxia Type 40	Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax...	ORPHA:423275
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Spinocerebellar Ataxia Type 35	Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten...	ORPHA:276193
Progressive Myoclonic Epilepsy Type 1	Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus	ORPHA:308
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance	ORPHA:228169
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:237800
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia	ORPHA:2589
Malaria	Retinopathy, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia	ORPHA:673
Rotor Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:3111
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Exudative Vitreoretinopathy 7	Retinal degeneration, Vitreoretinopathy, Retinal hole	OMIM:617572
Spinocerebellar Ataxia 46	Positive Romberg sign, Gait ataxia, Dysmetria, Limb ataxia	OMIM:617770
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin...	OMIM:619868
Neurodegeneration With Brain Iron Accumulation 8	Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait	OMIM:617917
Bullous Dystrophy, Hereditary Macular Type	Death in childhood, Acrocyanosis	OMIM:302000
Spinocerebellar Ataxia, Autosomal Recessive 10	Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Fasciculations	OMIM:613728
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure	OMIM:263000
Episodic Pain Syndrome, Familial, 3	Abnormal autonomic nervous system physiology	OMIM:615552
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Intention tremor, Babinsk...	ORPHA:284332
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Ataxia, Myoclonus	OMIM:208700
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Cough, Tachypnea, Intercostal retractions, Reduced forced vital c...	ORPHA:91359
Retinoschisis 1, X-Linked, Juvenile	Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy...	OMIM:312700
3-Methylglutaconic Aciduria Type 3	Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis	ORPHA:67047
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Pulmonic stenosis, Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment	OMIM:614224
Exudative Vitreoretinopathy 3	Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate	OMIM:605750
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Progressive cerebellar ataxia	OMIM:618412
Spinocerebellar Ataxia Type 37	Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Gait disturbance, Tremor, Cogwheel rigidity...	ORPHA:363710
Spinocerebellar Ataxia, Autosomal Recessive 6	Ataxia, Clumsiness, Dysmetria, Intention tremor, Gait ataxia, Spasticity	OMIM:608029
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Citrullinemia, Type Ii, Neonatal-Onset	Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid...	OMIM:605814
Spinocerebellar Ataxia, Autosomal Recessive 26	Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm...	OMIM:617633
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor	OMIM:618425
Cleft Larynx, Posterior	Cyanosis, Aspiration	OMIM:215800
Dentatorubral-Pallidoluysian Atrophy	Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis	OMIM:125370
Cryptogenic Organizing Pneumonia	Respiratory distress, Nonproductive cough, Cyanosis, Crackles, Wheezing, Pneumothorax, Cough, Res...	ORPHA:1302
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency	Gait ataxia, Limb ataxia	ORPHA:404499
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Motor Neuropathy, Peripheral, With Dysautonomia	Orthostatic hypotension, Cyanosis, Decreased nerve conduction velocity, Abnormal autonomic nervou...	OMIM:252320
Spinocerebellar Ataxia 23	Dysmetria, Impaired vibration sensation in the lower limbs, Limb ataxia, Babinski sign, Tremor, G...	OMIM:610245
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Spastic Ataxia 2, Autosomal Recessive	Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci...	OMIM:611302
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations	OMIM:183050
Leukodystrophy, Hypomyelinating, 9	Ataxia, Dysmetria, Intention tremor, Spasticity, Abnormality of extrapyramidal motor function	OMIM:616140
X-Linked Retinal Dysplasia	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia	ORPHA:1852
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Surfactant Metabolism Dysfunction, Pulmonary, 1	Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dysp...	OMIM:265120
Obesity-Hypoventilation Syndrome	Cyanosis, Hypoventilation	OMIM:257500
Laryngotracheoesophageal Cleft	Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor	ORPHA:2004
Spinocerebellar Ataxia 4	Limb dysmetria, Babinski sign, Progressive cerebellar ataxia, Distal sensory impairment	OMIM:600223
Spinocerebellar Ataxia 19	Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at...	OMIM:607346
Spinocerebellar Ataxia, Autosomal Recessive 7	Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Postur...	OMIM:609270
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib...	ORPHA:284324
Orthostatic Intolerance	Orthostatic tachycardia	OMIM:604715
Spinocerebellar Ataxia Type 26	Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Progressive gait ataxia	ORPHA:101112
Urocanic Aciduria	Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia	ORPHA:210128
Familial Drusen	Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig...	ORPHA:75376
Encephalopathy, Recurrent, Of Childhood	Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordination	OMIM:130950
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,...	OMIM:301310
Retinopathy, Pericentral Pigmentary, Dominant	Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret...	OMIM:180210
Spinocerebellar Ataxia, X-Linked 4	Tremor, Ataxia, Abnormal pyramidal sign	OMIM:301840
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Unsteady gait	ORPHA:284271
Spinocerebellar Ataxia 44	Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity	OMIM:617691
Lattice Degeneration Of Retina Leading To Retinal Detachment	Retinal detachment, Lattice retinal degeneration	OMIM:150500
Ataxia-Oculomotor Apraxia 3	Ataxia, Dysmetria, Distal sensory impairment, Frequent falls, Oculomotor apraxia	OMIM:615217
Spinocerebellar Ataxia Type 12	Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an...	ORPHA:98762
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ataxia, Inability to walk, Abnormality of extrapyramidal motor function, Athetosis	OMIM:615159
Neuralgic Amyotrophy	Respiratory insufficiency, Acrocyanosis	ORPHA:2901
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Increased total iron binding capacity, Increased ...	OMIM:616278
Birdshot Chorioretinopathy	Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst...	ORPHA:179
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Hepatomegaly, Increased serum bile acid concentration	OMIM:243300
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Paroxysmal dyskinesia,...	ORPHA:53583
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Decreased DLCO, Cough, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Dyspnea	OMIM:610910
Biliary Atresia, Extrahepatic	Increased total bilirubin, Hepatomegaly, Hyperbilirubinemia, Unconjugated hyperbilirubinemia	OMIM:210500
Spinocerebellar Ataxia 26	Incoordination, Gait ataxia, Truncal ataxia, Limb ataxia	OMIM:609306
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia, Hepatomegaly, Splenomegaly	OMIM:214900
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Isolated Polycystic Liver Disease	Increased total bilirubin, Hepatomegaly	ORPHA:2924
Retinitis Pigmentosa 13	Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus	OMIM:600059
Laryngeal Abductor Paralysis	Cyanosis, Stridor	OMIM:150260
Hepatic Veno-Occlusive Disease	Increased total bilirubin, Hepatomegaly	ORPHA:890
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary...	ORPHA:2414
Breath-Holding Spells	Cyanosis	OMIM:607578
Cyanosis, Transient Neonatal	Cyanosis, Jaundice	OMIM:613977
Asbestos Intoxication	Oxygen desaturation on exertion, Reduced vital capacity, Nonproductive cough, Cyanosis, Reduced f...	ORPHA:2302
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Nonspecific interstitial pneumonia, Cyanosis, Neonatal death, Tachyp...	OMIM:610921
Hypermethioninemia Due To Adenosine Kinase Deficiency	Pulmonic stenosis, Atrial septal defect, Hypermethioninemia, Hyperbilirubinemia	OMIM:614300
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Hepatomegaly	OMIM:619232
Spinocerebellar Ataxia, Autosomal Recessive 18	Ataxia, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, Incoordination, Gait ataxia...	OMIM:616204
Joubert Syndrome 33	Oculomotor apraxia, Ataxia	OMIM:617767
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Ataxia, Bradykinesia, Chorea	OMIM:618683
Spinocerebellar Ataxia Type 19/22	Broad-based gait, Impaired vibration sensation at ankles, Ataxia, Limb ataxia, Poor coordination,...	ORPHA:98772
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Cyanosis, Respiratory insufficiency, In...	OMIM:610913
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly	OMIM:612653
Joubert Syndrome 27	Oculomotor apraxia, Ataxia	OMIM:617120
Mitchell Syndrome	Respiratory insufficiency due to muscle weakness, Abnormal autonomic nervous system physiology	OMIM:618960
Retinitis Pigmentosa 50	Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt...	OMIM:613194
Infant Acute Respiratory Distress Syndrome	Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring	ORPHA:70587
Ataxia-Oculomotor Apraxia 4	Oculomotor apraxia, Ataxia, Tetraplegia	OMIM:616267
Spinocerebellar Ataxia, Autosomal Recessive 11	Ataxia, Truncal ataxia, Limb ataxia	OMIM:614229
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased total bilirubin, Hepatomegaly	OMIM:618528
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:185000
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Splenomegaly, Unconjugated hyperbilirubinemia, Incr...	ORPHA:766
Harderoporphyria	Increased circulating ferritin concentration, Neonatal hyperbilirubinemia, Hepatomegaly, Splenome...	OMIM:618892
Infantile Sialic Acid Storage Disease	Conjugated hyperbilirubinemia, Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:269920
Mitochondrial Complex I Deficiency, Nuclear Type 30	Respiratory failure, Neonatal death	OMIM:301021
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia	OMIM:609734
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology	DECIPHER:59
Primary Pulmonary Hypoplasia	Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ventilatory ...	ORPHA:2257
Spinocerebellar Ataxia 15	Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor	OMIM:606658
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis, Central apnea	ORPHA:71277
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia	OMIM:601775
Spherocytosis, Type 1	Hyperbilirubinemia, Splenomegaly	OMIM:182900
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Nystagmus, Hereditary Vertical	Ataxia	OMIM:164150
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia, Hepatomegaly	OMIM:605479
Spherocytosis, Type 2	Hyperbilirubinemia, Splenomegaly	OMIM:616649
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Apnea, Death in infancy, Abnormal autonomic nervous system physiology	OMIM:614498
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hepatomegaly, Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulati...	ORPHA:247598
Postsynaptic Congenital Myasthenic Syndromes	Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ...	ORPHA:98913
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Abnormal pattern of respiration, Sleep apnea, Death in infancy, Abnormal autonomic nervous system...	ORPHA:168593
Choanal Atresia	Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis...	ORPHA:137914
Bile Acid Synthesis Defect, Congenital, 6	Ataxia, Slurred speech, Dysmetria	OMIM:617308
Bile Acid Synthesis Defect, Congenital, 4	Hepatomegaly, Hyperbilirubinemia	OMIM:214950
Mitochondrial Phosphate Carrier Deficiency	Respiratory insufficiency, Cyanosis	OMIM:610773
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Con...	OMIM:616860
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:235555
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperprolinemia, Optic disc pallor, Hyperalaninemia, Perimembranous ventricular septal defect, Ca...	OMIM:619170
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Exertional dyspnea, Cyanosis	OMIM:250800
Dentatorubral Pallidoluysian Atrophy	Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb ataxia, Dysmetria, Blepha...	ORPHA:101
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal...	OMIM:305390
Hypoadrenocorticism, Familial	Apnea, Cyanosis	OMIM:240200
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crackles, Decreased DLCO, Cough, Restrictive ventilatory defect, Hypoxemia, Dyspnea	ORPHA:747
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A	Abnormal autonomic nervous system physiology	OMIM:156310
Acute Interstitial Pneumonia	Nonproductive cough, Cyanosis, Crackles, Tachypnea, Decreased DLCO, Pleural effusion, Bronchiecta...	ORPHA:79126
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stil...	OMIM:619751
Lipoyltransferase 1 Deficiency	Increased total bilirubin	OMIM:616299
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Retinal dystrophy	ORPHA:713
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Hyperbilirubinemia, Splenomegaly	OMIM:235700
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:616689
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Ataxia	ORPHA:3350
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin, Splenomegaly	ORPHA:90037
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	ORPHA:158057
Haddad Syndrome	Central sleep apnea, Abnormal autonomic nervous system physiology, Central hypoventilation, Breat...	ORPHA:99803
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Hepatomegaly	ORPHA:234
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
Multiple System Atrophy	Autonomic erectile dysfunction, Central sleep apnea, Abnormal autonomic nervous system physiology...	ORPHA:102
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Exudative Vitreoretinopathy 1	Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin...	OMIM:133780
Benign Familial Neonatal Epilepsy	Apnea, Circumoral cyanosis	ORPHA:1949
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Riboflavin Transporter Deficiency	Sleep apnea, Abnormal autonomic nervous system physiology, Respiratory insufficiency, Optic disc ...	ORPHA:97229
Vitreoretinal Degeneration, Snowflake Type	Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots	OMIM:193230
Hereditary Methemoglobinemia	Exertional dyspnea, Cyanosis	ORPHA:621
Bile Acid Synthesis Defect, Congenital, 1	Hypocholesterolemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:607765
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Abnormal autonomic nervous system physiology	OMIM:615548
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly	OMIM:601847
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Apnea, Hyperventilation, Abnormal autonomic nervous system physiology	OMIM:617903
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level	ORPHA:95715
Congenital Bile Acid Synthesis Defect Type 2	Conjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia, Abnormal serum bile acid concent...	ORPHA:79303
Congenital Tracheomalacia	Apnea, Tracheomalacia, Decreased peak expiratory flow, Cyanosis, Respiratory insufficiency, Neona...	ORPHA:95430
Congenital Bile Acid Synthesis Defect Type 3	Hepatosplenomegaly, Hyperbilirubinemia	ORPHA:79302
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Multiple System Atrophy, Parkinsonian Type	Autonomic erectile dysfunction, Central sleep apnea, Abnormal autonomic nervous system physiology...	ORPHA:98933
Caribbean Parkinsonism	Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiology	ORPHA:97355
Myxopapillary Ependymoma	Autonomic bladder dysfunction	ORPHA:251643
Hypermanganesemia With Dystonia 1	Increased total iron binding capacity, Hypermanganesemia, Hepatomegaly, Unconjugated hyperbilirub...	OMIM:613280
Obesity Due To Sim1 Deficiency	Abnormal autonomic nervous system physiology, Postural hypotension with compensatory tachycardia	ORPHA:369873
Glycogen Storage Disease Vii	Increased total bilirubin, Hyperuricemia	OMIM:232800
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
Buerger Disease	Acrocyanosis	ORPHA:36258
Pulmonary Capillary Hemangiomatosis	Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Decreased DLCO, Pleural effusion, Hypox...	ORPHA:199241
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia	ORPHA:95717
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Increa...	OMIM:267700
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Splenomegaly	OMIM:266200
Tricuspid Atresia	Cyanosis	ORPHA:1209
Epilepsy, Familial Focal, With Variable Foci 4	Abnormal autonomic nervous system physiology	OMIM:617935
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly	OMIM:211600
Solute carrier family 4 (anion exchanger), member 1	Hyperbilirubinemia, Splenomegaly	OMIM:109270
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Respiratory insufficiency, Neonatal death	OMIM:601612
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Cyanosis, Paroxysmal dyspnea, Respiratory failure	ORPHA:444013
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:251880
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Optic atrophy, Apnea, Cyanosis	OMIM:261680
Liver Failure, Infantile, Transient	Hepatomegaly, Hyperbilirubinemia, Hypoalbuminemia	OMIM:613070
Larsen-Like Syndrome, Lethal Type	Respiratory insufficiency, Neonatal death, Tracheomalacia	OMIM:245650
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Conjugated hyperbilirubinemia, Hepatomegaly, Right ventricular hypertr...	OMIM:613404
Peroxisome Biogenesis Disorder 12A (Zellweger)	Double outlet right ventricle, Atrial septal defect, Hyperbilirubinemia, Elevated circulating lon...	OMIM:614886
Wolcott-Rallison Syndrome	Double outlet right ventricle, Hepatomegaly, Hyperbilirubinemia, Atrial septal defect, Hyperammon...	ORPHA:1667
Central Hypoventilation Syndrome, Congenital, 1	Apnea, Abnormal autonomic nervous system physiology, Central hypoventilation, Hypercapnia, Hypoxe...	OMIM:209880
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Congenital Myasthenic Syndrome	Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Frontalis muscl...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Frontalis muscl...	ORPHA:98914
Pulmonary Arteriovenous Malformation	Hemothorax, Pleural empyema, Cyanosis, Cough, Hypoxemia, Dyspnea, Telangiectasia, Pulmonary arter...	ORPHA:2038
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hypercholesterolemia, In...	OMIM:619662
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinem...	OMIM:613673
Multiple System Atrophy, Cerebellar Type	Autonomic erectile dysfunction, Central sleep apnea, Abnormal autonomic nervous system physiology...	ORPHA:227510
Autosomal Dominant Epilepsy With Auditory Features	Abnormal autonomic nervous system physiology	ORPHA:101046
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:139578
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:605543
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Hyperbilirubinemia, Increased serum iron	ORPHA:98870
Abetalipoproteinemia	Abnormal circulating apolipoprotein concentration, Abnormality of retinal pigmentation, Hepatomeg...	ORPHA:14
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619685
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated ...	OMIM:608836
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly	ORPHA:64743
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Hyperbilirubinemia, Splenomegaly	ORPHA:288
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect, Conjugated hyperb...	OMIM:208085
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:329284
Tetanus	Autonomic bladder dysfunction, Respiratory distress, Abnormal autonomic nervous system physiology...	ORPHA:3299
Encephalopathy, Ethylmalonic	Petechiae, Acrocyanosis, Death in infancy	OMIM:602473
Dehydrated Hereditary Stomatocytosis	Increased circulating ferritin concentration, Splenomegaly, Abnormal blood potassium concentratio...	ORPHA:3202
Neurodegeneration With Brain Iron Accumulation 5	Abnormal autonomic nervous system physiology	OMIM:300894
Pulmonary Alveolar Microlithiasis	Oxygen desaturation on exertion, Nonproductive cough, Cyanosis, Respiratory insufficiency, Tachyp...	ORPHA:60025
Attrv30M Amyloidosis	Vitreous floaters, Cardiomyopathy, Cardiomegaly	ORPHA:85447
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Familial Thyroid Dyshormonogenesis	Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level	ORPHA:95716
Fumarase Deficiency	Optic atrophy, Hyperbilirubinemia	OMIM:606812
Cholestasis, Progressive Familial Intrahepatic, 5	Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia	OMIM:617049
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Hepato...	OMIM:603553
Refsum Disease, Classic	Retinal degeneration, Rod-cone dystrophy, Elevated levels of phytanic acid, Cardiomyopathy, Cardi...	OMIM:266500
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:224120
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Dilated cardiom...	OMIM:600649
Hereditary Spherocytosis	Restrictive cardiomyopathy, Hepatomegaly, Hyperbilirubinemia, Splenomegaly	ORPHA:822
Bachmann-Bupp Syndrome	Hyperbilirubinemia	OMIM:619075
Congenital Tricuspid Valve Dysplasia	Cyanosis, Respiratory failure requiring assisted ventilation, Tachypnea, Hypoxemia, Respiratory f...	ORPHA:555874
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly, Optic atrophy, ...	OMIM:259720
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90036
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia, Sple...	OMIM:300908
Chiari Malformation Type Ii	Cyanosis, Inspiratory stridor	OMIM:207950
Complete Atrioventricular Septal Defect	Pulmonary venous hypertension, Cyanosis, Crackles, Elevated pulmonary artery pressure, Tachypnea,...	ORPHA:1329
Pyruvate Carboxylase Deficiency	Hyperlysinemia, Hepatomegaly, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypertau...	ORPHA:3008
Glycogen Storage Disease Xii	Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating creatine kinase concentratio...	OMIM:611881
Criss-Cross Heart	Respiratory insufficiency, Cyanosis	ORPHA:1461
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Parkinsonism-Dystonia 2, Infantile-Onset	Abnormal autonomic nervous system physiology	OMIM:618049
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology, Cough	OMIM:614575
Fatal Familial Insomnia	Apnea, Abnormal autonomic nervous system physiology	OMIM:600072
Intrahepatic Cholestasis Of Pregnancy	Hyperbilirubinemia, Increased serum bile acid concentration	ORPHA:69665
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Hyperalaninemia, Hepatomegaly, Hyperuricemia	ORPHA:348
Sepsis In Premature Infants	Petechiae, Cyanosis, Abnormal respiratory system physiology, Abnormal mucociliary clearance, Purp...	ORPHA:90051
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:598500
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia, Patent foramen ovale	ORPHA:293939
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Neonatal death, Abnormal auditory evoked p...	OMIM:600501
Rh Deficiency Syndrome	Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level	ORPHA:71275
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-...	ORPHA:91547
Cystic Echinococcosis	Hepatomegaly, Hyperbilirubinemia, Abnormal heart morphology	ORPHA:400
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis	ORPHA:439
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Vitreous hemorrhage, Hyperbilirubinemia, Retinal hemorrhage, Hypertrophic cardiomyopathy, Abnorma...	ORPHA:464321
Wild Type Attr Amyloidosis	Autonomic bladder dysfunction, Pleural effusion, Orthostatic hypotension due to autonomic dysfunc...	ORPHA:330001
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:243180
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Neonatal hyperbilirubinemia	ORPHA:73272
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Cardiomyopathy, Familial Hypertrophic 27	Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis...	OMIM:618052
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Acute Bilirubin Encephalopathy	Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia	ORPHA:529808
Hsd10 Disease, Infantile Type	Optic atrophy, Cyanosis	ORPHA:391428
Carnitine-Acylcarnitine Translocase Deficiency	Respiratory insufficiency, Cyanosis, Sudden episodic apnea	ORPHA:159
Congenital Fibrinogen Deficiency	Bruising susceptibility, Cyanosis, Subcutaneous hemorrhage	ORPHA:335
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Cyanosis, Tachypnea	ORPHA:860
Reynolds Syndrome	Calcinosis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:613471
Infantile Neuroaxonal Dystrophy	Abnormal autonomic nervous system physiology, Aspiration pneumonia, Apneic episodes in infancy, O...	ORPHA:35069
Pure Autonomic Failure	Orthostatic hypotension, Abnormal autonomic nervous system physiology	ORPHA:441
Tetrasomy 5P	Respiratory distress, Cyanosis, Pulmonary arterial hypertension	ORPHA:3309
Atrial Septal Defect, Ostium Primum Type	Airway obstruction, Cyanosis, Abnormal respiratory system physiology, Tachypnea, Dyspnea, Exertio...	ORPHA:99106
Danon Disease	Myocardial fibrosis, Myocardial necrosis, Elevated circulating creatine kinase concentration, Dil...	OMIM:300257
Ethylmalonic Encephalopathy	Petechiae, Acrocyanosis	ORPHA:51188
Atrial Septal Defect, Ostium Secundum Type	Airway obstruction, Cyanosis, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional ...	ORPHA:99103
Parenteral Nutrition-Associated Cholestasis	Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Splenomegaly, Conjug...	ORPHA:567983
Waardenburg Syndrome Type 3	Acrocyanosis, Tracheomalacia	ORPHA:896
Graft Versus Host Disease	Hepatosplenomegaly, Hyperbilirubinemia	ORPHA:39812
Arnold-Chiari Malformation Type Ii	Apnea, Cyanosis, Pneumonia, Inspiratory stridor	ORPHA:1136
Autoimmune Hepatitis	Increased total bilirubin, Splenomegaly	ORPHA:2137
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:613870
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
Wilson Disease	Increased circulating copper concentration, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, High ...	OMIM:277900
Atrioventricular Septal Defect 3	Cyanosis, Pulmonary arterial hypertension	OMIM:600309
Double Outlet Right Ventricle	Cyanosis, Tachypnea	ORPHA:3426
Al Amyloidosis	Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Bruising susceptibi...	ORPHA:85443
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Apnea, Cyanosis	OMIM:619580
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension, Increased pulm...	ORPHA:99104
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er...	OMIM:169500
Attrv122I Amyloidosis	Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro...	ORPHA:85451
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia	ORPHA:1867
Ethylene Glycol Poisoning	Episodic respiratory distress, Cyanosis, Tachypnea, Abnormal pattern of respiration, Facial palsy	ORPHA:31826
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Variant Abeta2M Amyloidosis	Abnormal autonomic nervous system physiology	ORPHA:314652
Eosinophilic Granulomatosis With Polyangiitis	Asthma, Urticaria, Sinusitis, Cutis marmorata, Respiratory insufficiency, Cough, Purpura, Acrocya...	ORPHA:183
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Posttransplant Acute Limbic Encephalitis	Abnormal autonomic nervous system physiology	ORPHA:163921
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal autonomic nervous system physiology, Abnormal nerve conduction velocity	OMIM:243000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinemia, Ventricular hypertrophy, Cardi...	OMIM:618278
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis	OMIM:614407
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Fabry Disease	Abnormal autonomic nervous system physiology, Airway obstruction, Angiokeratoma	OMIM:301500
Mitochondrial Complex I Deficiency, Nuclear Type 1	Optic neuropathy, Apnea, Cyanosis, Respiratory insufficiency, Optic disc pallor, Death in infancy...	OMIM:252010
Hyperimmunoglobulinemia D With Periodic Fever	Urticaria, Purpura, Erythema, Acrocyanosis	ORPHA:343
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis	ORPHA:3304
Hardikar Syndrome	Atrial septal defect, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly, Pigment...	OMIM:301068
Amyloidosis, Hereditary, Transthyretin-Related	Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiology	OMIM:105210
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Hypocalcemia, Atrial septal defect, Hyperbilirubinemia	ORPHA:163979
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Hypocalcemia, Hepatomegaly, Atrial septal defect, H...	OMIM:619991
Erythermalgia, Primary	Abnormal autonomic nervous system physiology	OMIM:133020
Ogden Syndrome	Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal defect, Hyperbilirubinemia, E...	OMIM:300855
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level	ORPHA:90673
Insensitivity To Pain, Congenital, With Anhidrosis	Poor wound healing, Abnormal autonomic nervous system physiology, Postural hypotension with compe...	OMIM:256800
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Caroli Syndrome	Conjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia	ORPHA:480520
Cranioectodermal Dysplasia 2	Atrial septal defect, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Left ventricular hypertroph...	OMIM:613610
Caroli Disease	Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly	ORPHA:53035
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Abnormal autonomic nervous system physiology	ORPHA:83601
Telangiectasia, Hereditary Hemorrhagic, Type 1	Telangiectasia, Telangiectasia of the skin, Reduced FEV1/FVC ratio, Miscarriage, Hemothorax, Exer...	OMIM:187300
Meckel Syndrome 14	Cardiorespiratory arrest, Cyanosis, Pneumothorax	OMIM:619879
Poems Syndrome	Papilledema, Restrictive ventilatory defect, Pleural effusion, Pulmonary arterial hypertension, A...	ORPHA:2905
Inherited Creutzfeldt-Jakob Disease	Vestibular nystagmus, Abnormal autonomic nervous system physiology	ORPHA:282166
Lathosterolosis	Hepatosplenomegaly, Abnormal circulating cholesterol concentration, Hyperbilirubinemia	OMIM:607330
Hepatocellular Carcinoma	Hypokalemia, Hepatomegaly, Hyperbilirubinemia, Hypoalbuminemia, Hyponatremia, Hypercalcemia	ORPHA:88673
X-Linked Intellectual Disability, Nascimento Type	Mitral stenosis, Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, P...	ORPHA:163956
Fructose Intolerance, Hereditary	Hypophosphatemia, Hepatomegaly, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia	OMIM:229600
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased sensitivity to hypoxemia, Orthostatic hypotension, Acrocyanosis	OMIM:223900
Acquired Purpura Fulminans	Macular purpura, Acrocyanosis	ORPHA:49566
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly	ORPHA:30391
Esophageal Atresia	Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs...	ORPHA:1199
Absence Of The Pulmonary Artery	Nonproductive cough, Cyanosis, Orthopnea, Recurrent pneumonia, Bronchiectasis, Dyspnea, Pulmonary...	ORPHA:980
Unilateral Polymicrogyria	Giant somatosensory evoked potentials, Apnea, Cyanosis, Epistaxis	ORPHA:268943
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:466934
Congenital Tracheal Stenosis	Respiratory distress, Neonatal asphyxia, Cyanosis, Wheezing, Upper airway obstruction, Dyspnea	ORPHA:141127
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Hypoalbuminemia, Abnormal circulating lipid concentration	ORPHA:186
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Melkersson-Rosenthal Syndrome	Facial palsy, Abnormal autonomic nervous system physiology	ORPHA:2483
Romano-Ward Syndrome	Abnormal autonomic nervous system physiology	ORPHA:101016
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Retinal degeneration	OMIM:208500
Aicardi-Goutieres Syndrome 1	Petechiae, Erythema, Purpura, Prolonged neonatal jaundice, Acrocyanosis	OMIM:225750
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:616683
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Hyperbilirubinemia	OMIM:557000
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level	ORPHA:90674
Biliary, Renal, Neurologic, And Skeletal Syndrome	Increased circulating ferritin concentration, Secundum atrial septal defect, Hepatomegaly, Primum...	OMIM:619534
Hereditary Cryohydrocytosis With Reduced Stomatin	Hepatosplenomegaly, Conjugated hyperbilirubinemia	ORPHA:168577
Rett Syndrome	Abnormal pattern of respiration, Abnormal autonomic nervous system physiology	ORPHA:778
Porphyria Variegata	Cutaneous photosensitivity, Abnormal autonomic nervous system physiology, Respiratory paralysis	ORPHA:79473
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Asthma, Abnormal autonomic nervous system physiology, Central hypoventilation, Cyanosis, Cardiore...	ORPHA:293987
Degcags Syndrome	Hepatomegaly, Atrial septal defect, Dysplastic pulmonary valve, Hyperbilirubinemia, Pulmonic sten...	OMIM:619488
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ventricular septal defect, Bicuspid aortic valve, Hyperbilirubinemia, Chorioretinal coloboma	OMIM:619475
Rare Circulatory System Disease	Cyanosis	ORPHA:98028
Tarp Syndrome	Optic atrophy, Apnea, Cyanosis	ORPHA:2886
Telangiectasia, Hereditary Hemorrhagic, Type 4	Cyanosis, Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Lip telangiectasia, Dysp...	OMIM:610655
Tremor-Ataxia-Central Hypomyelination Syndrome	Optic atrophy, Autonomic bladder dysfunction	ORPHA:447896
Stuve-Wiedemann Syndrome 1	Apnea, Abnormal autonomic nervous system physiology, Respiratory insufficiency, Death in infancy,...	OMIM:601559
Structural Heart Defects And Renal Anomalies Syndrome	Cyanosis, Death in infancy	OMIM:617478
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyponatremia, Hyp...	ORPHA:90038
Histiocytoid Cardiomyopathy	Optic atrophy, Cyanosis, Cough, Tachypnea	ORPHA:137675
Myasthenia Gravis	Dyspnea, Acrocyanosis	ORPHA:589
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Flushing, Abnormal autonomic nervous system physiology, Aspiration	ORPHA:2131
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis	OMIM:261740
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:231550
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Hypothyroidism, Congenital, Nongoitrous, 2	Hyperbilirubinemia, Increased circulating thyroglobulin level	OMIM:218700
Machado-Joseph Disease	Abnormal autonomic nervous system physiology	OMIM:109150
Senior-Boichis Syndrome	Increased total bilirubin, Hepatosplenomegaly	ORPHA:84081
Goodpasture Syndrome	Increased DLCO, Cyanosis, Crackles, Tachypnea, Cough, Restrictive ventilatory defect, Exertional ...	OMIM:233450
Telangiectasia, Hereditary Hemorrhagic, Type 2	Oral cavity telangiectasia, Palmar telangiectasia, Cyanosis, Conjunctival telangiectasia, Spontan...	OMIM:600376
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis	ORPHA:2326
Fucosidosis	Vascular skin abnormality, Acrocyanosis	ORPHA:349
Adult-Onset Autosomal Dominant Leukodystrophy	Abnormal autonomic nervous system physiology, Aspiration pneumonia, Orthostatic hypotension, Auto...	ORPHA:99027
Ramos-Arroyo Syndrome	Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology	ORPHA:1051
Aorta Coarctation	Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma...	ORPHA:1457
Pitt-Hopkins Syndrome	Sleep apnea, Hyperventilation, Abnormal pattern of respiration, Acrocyanosis, Aganglionic megacolon	ORPHA:2896
Aortic Arch Interruption	Respiratory distress, Exertional dyspnea, Cyanosis, Tachypnea	ORPHA:2299
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia, Atrial septal defect, Rod-cone dystrophy	OMIM:300896
Wolfram Syndrome	Optic atrophy, Respiratory insufficiency, Abnormal autonomic nervous system physiology, Central a...	ORPHA:3463
Familial Dysautonomia	Optic atrophy, Orthostatic hypotension, Acrocyanosis	ORPHA:1764
Parkinson Disease 23, Autosomal Recessive Early-Onset	Abnormal autonomic nervous system physiology	OMIM:616840
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Abnormal autonomic nervous system physiology	ORPHA:478029
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Congenital Erythropoietic Porphyria	Splenomegaly, Increased erythrocyte protoporphyrin concentration, Abnormal circulating porphyrin ...	ORPHA:79277
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Abnormal autonomic nervous system physiology	ORPHA:300570
Yellow Fever	Elevated circulating creatine kinase concentration, Pancreatic hyperplasia, Elevated circulating ...	ORPHA:99829
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Exertional dyspnea, Cyanosis, Pulmonary arterial hypertension	ORPHA:99050
Alexander Disease	Respiratory insufficiency, Facial palsy, Sleep apnea, Abnormal autonomic nervous system physiology	ORPHA:58
Trisomy 20P	Abnormal autonomic nervous system physiology	ORPHA:261318
Lambert-Eaton Myasthenic Syndrome	Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiology	ORPHA:43393
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology	ORPHA:247234
Young-Onset Parkinson Disease	Abnormal autonomic nervous system physiology	ORPHA:2828
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Short-segment aganglionic megacolon, Absent brainstem auditory responses, Decreased nerve conduct...	OMIM:609136
Hyperoxaluria, Primary, Type I	Optic atrophy, Cutis marmorata, Acrocyanosis, Optic neuropathy	OMIM:259900
Parkinson Disease, Late-Onset	Abnormal autonomic nervous system physiology	OMIM:168600
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:146500
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Wheezing, Hypoxemia, Exertional dyspnea, Pulmonary arterial hyper...	ORPHA:97214
Rajab Interstitial Lung Disease With Brain Calcifications 1

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