Gene Summary

Name:
roundabout guidance receptor 3
Synonyms:
Robo3b,  Rig-1,  Robo3a,  Rig1,  Rbig1

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 bilirubin level Robo3em1(IMPC)H HET Early adult 1.90×10-06
increased heart weight Robo3em1(IMPC)H HET Early adult 1.08×10-05
preweaning lethality, complete penetrance Robo3em1(IMPC)H HOM   Early adult 0.00
abnormal retina morphology Robo3em1(IMPC)H HET Early adult 1.52×10-11

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.

MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

MicroCT E18.5

Embryo reconstruction

4 Images

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.

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 Similarity of
phenotypes
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