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Gene: Kifbp MGI:1919570

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Gene Summary

Name:
kinesin family binding protein
Synonyms:
2510003E04Rik,  Kif1bp

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Kifbptm1a(KOMP)Wtsi HOM   Early adult 0.00
increased circulating chloride level Kifbptm1a(KOMP)Wtsi HET Early adult 1.81×10-19

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.

X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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Anti-nuclear antibody assay

Images

6 Images

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DSS Histology

Images

8 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Human diseases caused by Kifbp 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 Kifbp by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Goldberg-Shprintzen Megacolon Syndrome
Sparse eyebrow, Sparse scalp hair, Bifid scrotum, Aganglionic megacolon, Hypospadias, Cleft palate ORPHA:66629
Goldberg-Shprintzen Syndrome
Limb hypertonia, Aganglionic megacolon, Oligodontia, Synophrys, Short philtrum, Everted lower lip... OMIM:609460

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Abnormal left ventricular function, Palpitations, Papilledema, Upper li... ORPHA:892
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Hyperchloremia, Hyperkalemia OMIM:614492
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Respiratory distress, Agenesis of corpus callosum, Primary microcephaly ORPHA:171703
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Neoplasm of the pancreas, Retinal capillary hemangioma, P... OMIM:193300
Phosphoserine Aminotransferase Deficiency
Apnea, Secondary microcephaly, Cyanotic episode, Death in infancy OMIM:610992
Benign Schwannoma
Abnormality of the liver, Abnormal parotid gland morphology, Facial palsy, Scleral schwannoma, Sc... ORPHA:252164
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Lissencephaly, Abnormal mucociliary clearance, Hypoplasia o... OMIM:619466
Diethylstilbestrol Syndrome
Breast carcinoma, Abnormal testis morphology, Vaginal neoplasm, Melanoma, Epididymal cyst, Abnorm... ORPHA:1916
Apnea, Central Sleep
Irregular respiration, Cyanosis, Sleep apnea, Abnormal pattern of respiration OMIM:207720
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss, Respiratory distress, Upper airway obstruction, Dyspnea ORPHA:141152
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Umbilical hernia, Death in infancy OMIM:254120
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum, Abnormality of the anterior commissure OMIM:617542
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis, Microcephaly OMIM:302000
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Respiratory distress, Failure to thrive, Cough, Respiratory failure, Tachypnea OMIM:263000
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplastic anterior commissure, Agenesis of corpus callosum, Dysgenesis of the basal ganglia, Hy... OMIM:600638
Floating-Harbor Syndrome
Wide mouth, Congenital posterior urethral valve, Microdontia, Low posterior hairline, Generalized... OMIM:136140
Chronic Pneumonitis Of Infancy
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... ORPHA:91359
Laryngotracheal Angioma
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing ORPHA:137935
Cryptogenic Organizing Pneumonia
Cyanosis, Pneumothorax, Weight loss, Hypoxemia, Respiratory distress, Crackles, Restrictive venti... ORPHA:1302
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Perching Syndrome
Cyanosis, Respiratory distress OMIM:617055
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Failure to thrive, Respiratory distress ORPHA:91130
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Hyperoxemia, Small for gestational age, Abnormal respiratory system physio... ORPHA:70589
Arnold-Chiari Malformation Type I
Cranial nerve compression, Abnormality of the eleventh cranial nerve, Abnormality of the musculat... ORPHA:268882
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia OMIM:300971
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Chiari Malformation Type Ii
Cyanosis, Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Inspiratory stridor... OMIM:207950
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea, Small for gestational age, Small basal ganglia, Microcephaly, Front... ORPHA:621
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Floating-Harbor Syndrome
Precocious puberty, Wide mouth, Congenital posterior urethral valve, Microdontia, Polycystic kidn... ORPHA:2044
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Cyanosis, Death in infancy, Apnea, Failure to thrive, Dyspnea, R... OMIM:265120
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Reduced cerebral white matter volume, Cerebral hypoplasia, Respiratory distress, Microcephaly, Hy... OMIM:617977
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Respiratory failure, Exertional dyspnea, Death in infancy, Hypoxemia, Respiratory distr... OMIM:610921
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Elevated hepatic transaminase, Bi... OMIM:137920
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Resp... ORPHA:264675
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress, Abnormal corpus striatum morphology ORPHA:238329
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Lateral ventricle dilatation, Primary microcephaly, Simplified gyr... ORPHA:300570
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Cyanotic episode, Lateral ventricle dilatation, Primary microcephal... ORPHA:284417
Congenital Disorder Of Glycosylation, Type Iy
Hypoplasia of the corpus callosum, Failure to thrive, Respiratory distress, Microcephaly OMIM:300934
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Bilateral cryptorchi... ORPHA:457083
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Neonatal... OMIM:619751
Pleural Mesothelioma
Weight loss, Abnormal respiratory system physiology, Respiratory distress, Pleural effusion, Dysp... ORPHA:50251
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Asbestos Intoxication
Cyanosis, Exertional dyspnea, Late inspiratory crackles, Hypoxemia, Reduced forced vital capacity... ORPHA:2302
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Failure to thrive, Upper ai... ORPHA:60032
Combined Oxidative Phosphorylation Deficiency 30
Failure to thrive, Respiratory distress, Death in infancy, Polymicrogyria OMIM:616974
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Pulmonary arterial hypertension, Cyanosis, Bronchiectasis, Interstitia... OMIM:610913
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Primary Pulmonary Hypoplasia
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Apnea, Failure to thrive, Restr... ORPHA:2257
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation, Obesity OMIM:257500
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Progressive microcephaly, Central apnea ORPHA:71277
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... ORPHA:140896
Immunodeficiency 95
Respiratory failure, Respiratory distress, Recurrent viral pneumonia OMIM:619773
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress, Microcephaly ORPHA:1832
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Thin corpus callosum, Pachygyria, Abnormality of the anterior commissure ORPHA:572013
Arnold-Chiari Malformation Type Ii
Cyanosis, Meningocele, Myelomeningocele, Aqueductal stenosis, Hydrocephalus, Apnea, Partial agene... ORPHA:1136
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory distress, Failure to thrive, Restrictive ventilatory defec... OMIM:614399
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:254210
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Cyanosis, Respiratory distress, Chronic pulmonary obstruction, P... ORPHA:2414
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplastic anterior commissure, Lissencephaly, Microcephaly, Pachygyria, Hypoplasia of the corpu... OMIM:618325
Diarrhea 1, Secretory Chloride, Congenital
Increased circulating renin level, Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Familial Multiple Nevi Flammei
Pulmonary embolism, Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency, Ed... ORPHA:624
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress ORPHA:2004
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Cerebral cortical atrophy, Lateral ventricle dilatation, Multifocal cerebral white matt... ORPHA:488627
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Bronchiectasis, Weight loss, Respiratory distress, Chronic pulmonary obstruction, P... ORPHA:411703
Lissencephaly Syndrome, Norman-Roberts Type
Primary microcephaly, 4-layered lissencephaly, Cerebral calcification, Respiratory distress, Micr... ORPHA:89844
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:605809
Bardet-Biedl Syndrome 16
Obesity, Respiratory distress OMIM:615993
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Respiratory distress, Microcephaly ORPHA:26792
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Failure to thrive, Abnormal basal ganglia MRI signal intensity, Stridor, Respiratory fa... ORPHA:444013
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Hypoxemia, Inspiratory crackles, Restrictive ventilatory defect, Dyspnea, Cough, Pneumo... OMIM:610910
Congenital Disorder Of Glycosylation, Type Iu
Death in infancy, Respiratory distress, Secondary microcephaly, Cerebral white matter atrophy, Ne... OMIM:615042
Klippel-Trénaunay Syndrome
Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Congestive heart failure, Internal... ORPHA:90308
Laryngeal Abductor Paralysis
Cyanosis, Microcephaly, Stridor OMIM:150260
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... ORPHA:254875
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia OMIM:301060
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Respiratory distress, Weight loss OMIM:612075
Infant Acute Respiratory Distress Syndrome
Cyanosis, Nasal flaring, Hypoxemia, Respiratory failure, Pneumonia, Tachypnea ORPHA:70587
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FEV1/FVC ratio, Decreased force... ORPHA:1303
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Weight loss, Hypoxemia, Crackles, Restrictive ventilatory defect, Dyspnea, Cough, Decre... ORPHA:747
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Death in childhood, Respiratory distress, Microcephaly OMIM:615597
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Exertional dyspnea, Restrictive ventilatory defect, Orthopnea, Reduced vital capacity, ... ORPHA:98913
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Proteus Syndrome
Multiple lipomas, Hemangioma, Venous malformation, Lipoma, Open mouth, Splenomegaly, Lymphangioma OMIM:176920
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:613090
Burning Mouth Syndrome
Abnormality of somatosensory evoked potentials, Abnormality of taste sensation, Abnormal fifth cr... ORPHA:353253
Encephalopathy, Ethylmalonic
Petechiae, Death in infancy, Acrocyanosis, Focal T2 hyperintense basal ganglia lesion, Failure to... OMIM:602473
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension, Abnormality of secondary sexual hair, Anterior pituitary hypoplasia, Decreased respo... ORPHA:95494
Succinic Acidemia
Respiratory distress OMIM:600335
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Gaucher Disease Type 2
Abnormal pattern of respiration, Cough, Respiratory distress ORPHA:77260
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea, Microcephaly OMIM:250800
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Vascular dilatation, Decreased muscle mass, Muscle fiber atrophy, Wrist drop, Elbow flexion contr... ORPHA:1900
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Dyspnea, Respiratory distress, Tachypnea OMIM:267450
Milroy Disease
Pedal edema, Lymphedema, Predominantly lower limb lymphedema, Hydrocele testis, Neoplasm of the s... ORPHA:79452
Breath-Holding Spells
Cyanosis OMIM:607578
Acute Interstitial Pneumonia
Cyanosis, Bronchiectasis, Hypoxemia, Pleural effusion, Crackles, Dyspnea, Respiratory failure, De... ORPHA:79126
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Simplified gyral pattern, Acrocyanosis, Abnormal cerebral white matter morphology, Failure to thr... OMIM:614407
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction, Erythema, Angioedema, Urticaria ORPHA:100057
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:613561
Acquired Methemoglobinemia
Dyspnea, Cyanosis, Hypoxemia, Respiratory distress ORPHA:464453
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis, Death in infancy, Respiratory distress, Apnea, Failure to thrive, Microcephaly, Hypopne... OMIM:618426
Parkes Weber Syndrome
Vascular dilatation, Bounding pulse, Lower limb muscle weakness, Arteriovenous malformation, Cere... ORPHA:90307
Thymic Neuroendocrine Tumor
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... ORPHA:97289
Giant Axonal Neuropathy
Abnormality of the Achilles tendon, Woolly hair, Pili canaliculi, Diffuse axonal swelling, Abnorm... ORPHA:643
Enlarged Parietal Foramina
Myelomeningocele, Abnormal cerebral vein morphology, Venous malformation, Multiple exostoses, Cle... ORPHA:60015
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Dysp... ORPHA:36238
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress OMIM:237310
Capillary Malformation-Arteriovenous Malformation
Telangiectasia, Cerebral ischemia, Lymphedema, Arteriovenous malformation, Cerebral arteriovenous... ORPHA:137667
Diaphanospondylodysostosis
Myelomeningocele, Respiratory distress ORPHA:66637
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Cerebral cortical atrophy, Respiratory distress, Microcephaly OMIM:618201
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Arteriovenous malformation, Hamartoma, Visceral angiomatosis, Congestive heart failure, Venous in... ORPHA:137608
Congenital Tracheomalacia
Respiratory insufficiency, Pulmonary arterial hypertension, Tracheobronchomalacia, Cyanosis, Pneu... ORPHA:95430
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Mitochondrial Pyruvate Carrier Deficiency
Progressive microcephaly, Respiratory distress OMIM:614741
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Basal ganglia gliosis, Neuronal loss in basal ganglia, Death in infancy, Irregular respiration, R... OMIM:604377
Anaplastic Thyroid Carcinoma
Weight loss, Respiratory distress, Upper airway obstruction, Dyspnea, Cough, Stridor ORPHA:142
Glossopharyngeal Neuralgia
Vascular dilatation, Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Synco... ORPHA:221098
Choanal Atresia
Cyanosis, Abnormal nasal mucus secretion, Respiratory distress, Chronic sinusitis, Upper airway o... ORPHA:137914
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
Ethylmalonic Encephalopathy
Failure to thrive, Abnormal basal ganglia MRI signal intensity, Acrocyanosis, Petechiae ORPHA:51188
Avian Influenza
Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Miscarriage, Pleural effusion, D... ORPHA:454836
Juvenile Polyposis Syndrome
Juvenile colonic polyposis, Hepatic arteriovenous malformation, Neoplasm of the gastrointestinal ... ORPHA:2929
Stt3B-Cdg
Failure to thrive, Respiratory distress, Microcephaly ORPHA:370924
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Failure to thrive, Respiratory distress, Microcephaly ORPHA:261304
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory failure requiring assisted ventilation, Ventilator dependence with inability to wean,... ORPHA:254864
Kaposi Sarcoma
Abnormality of the liver, Neoplasm by anatomical site, Lymphedema, Neoplasm of the skin, Venous i... ORPHA:33276
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Respiratory distress, Tachypnea ORPHA:45452
Auriculocondylar Syndrome 2
Apnea, Snoring, Respiratory distress OMIM:614669
Agnathia-Otocephaly Complex
Tracheomalacia, Holoprosencephaly, Respiratory distress, Agenesis of corpus callosum OMIM:202650
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr... ORPHA:70588
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Acute Lung Injury
Hypoxemia, Respiratory distress, Dyspnea, Respiratory failure, Pneumonia, Tachypnea ORPHA:178320
Tetrasomy 5P
Pulmonary arterial hypertension, Cyanosis, Hydrocephalus, Respiratory distress, Failure to thrive... ORPHA:3309
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Malaria
Respiratory distress ORPHA:673
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Cerebral cortical atrophy, Respiratory distress, Failure to thri... OMIM:619272
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea ORPHA:922
Congenital Disorder Of Glycosylation, Type Ie
Failure to thrive, Secondary microcephaly, Telangiectasia, Respiratory distress OMIM:608799
Sepsis In Premature Infants
Cyanosis, Decreased body weight, Petechiae, Small for gestational age, Nasal flaring, Jaundice, A... ORPHA:90051
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Respiratory distress, Agenesis of corpus callosum ORPHA:990
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Microcephaly, Dyspnea, Respiratory distress, Cough ORPHA:86812
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Respiratory distress OMIM:616733
Gjc2-Related Late-Onset Primary Lymphedema
Pedal edema, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Venous insufficie... ORPHA:568051
Restrictive Dermopathy 2
Cyanosis, Respiratory distress OMIM:619793
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Asthma, Hypoxemia, Respiratory distress, Oxygen desaturation on exertion, Crackles, Restrictive v... OMIM:610978
Folinic Acid-Responsive Seizures
Apnea, Frontotemporal cerebral atrophy, Respiratory distress ORPHA:79097
Hsd10 Disease, Infantile Type
Cyanosis, Frontotemporal cerebral atrophy, Diffuse cerebral atrophy, Microcephaly, Cerebral atrop... ORPHA:391428
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Death in infancy, Jaundice, Respiratory distress, Failure to thrive, C... OMIM:615512
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Cyanosis, Telangiectasia, Hemothorax, Pleural empyema, Ischemic ... ORPHA:2038
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Prolonged neonatal jaundice, Respiratory distress, Umbilical hernia ORPHA:226313
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Palmoplantar cutis laxa, Hydrocephalus, Respiratory distress, Me... OMIM:616482
Slc35A1-Cdg
Pneumonia, Hypoxemia, Respiratory distress, Subcutaneous hemorrhage ORPHA:238459
Congenital Myasthenic Syndrome
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... ORPHA:98914
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Non-Acquired Panhypopituitarism
Hypotension, Abnormality of secondary sexual hair, Anterior pituitary hypoplasia, Decreased respo... ORPHA:90695
Leigh Syndrome With Cardiomyopathy
Basal ganglia gliosis, Neuronal loss in basal ganglia, Respiratory distress, Abnormal globus pall... ORPHA:70474
Fg Syndrome Type 1
Pulmonary arterial hypertension, High palate, Long philtrum, Wide mouth, Abnormal large intestine... ORPHA:93932
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Death in infancy, Respiratory distress, Respiratory failure, Tachypnea OMIM:614299
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis, Cerebral atrophy OMIM:261680
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ... OMIM:187300
Tricuspid Atresia
Cyanosis ORPHA:1209
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Cyanosis, Intercostal retractions, Crackles, Recurrent pneumo... ORPHA:1329
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Cyanosis, Exertional dyspnea, Hemothorax, Hypoxemia, Pleural ... ORPHA:199241
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Hydrocephalus, Respiratory distress, Probst bundles, Agenesis of co... OMIM:612863
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Telangiectasia, Gastrointestinal carcinoma, Cerebral arteriov... OMIM:175050
X-Linked Centronuclear Myopathy
Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress ORPHA:596
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Cyanosis, Pneumothorax, Exertional dyspnea, Bronchiectasis, Weight los... ORPHA:60025
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Small for gestational age, Hypoxemia, Failure to thrive, Tachypnea ORPHA:860
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:602522
Aicardi-Goutieres Syndrome 1
Leukoencephalopathy, Petechiae, Purpura, Acrocyanosis, Morphological abnormality of the pyramidal... OMIM:225750
Non-Functioning Pituitary Adenoma
Hypotension, Anterior hypopituitarism, Adrenal insufficiency, Increased circulating gonadotropin ... ORPHA:91349
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hypoplasia of the corpus callosum, Failure to thrive, Respiratory distress, Microcephaly ORPHA:544503
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Abnormal periventricular white matter morphology, Respiratory distress ORPHA:1145
Thyroid Lymphoma
Upper airway obstruction, Dyspnea, Respiratory distress, Stridor ORPHA:97285
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:95716
Marcus-Gunn Syndrome
Cleft palate, Cleft lip, Abnormal fifth cranial nerve morphology ORPHA:91412
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... OMIM:601678
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Leukoencephalopathy, Exertional dyspnea, Respiratory distress, Failure to thrive, Respiratory fai... OMIM:220110
Telangiectasia, Hereditary Hemorrhagic, Type 4
Venous varicosities of celiac and mesenteric vessels, Dilatation of mesenteric artery, Palate tel... OMIM:610655
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Clapo Syndrome
Lymphedema, Capillary malformation of the lip, Capillary hemangioma, Ganglioneuroma, Venous malfo... ORPHA:168984
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Abnormal periventricular white matter morphology, Respiratory distress, Failure to thrive, Progre... ORPHA:329178
Congenital Tricuspid Valve Dysplasia
Cyanosis, Small for gestational age, Hypoxemia, Respiratory failure, Respiratory failure requirin... ORPHA:555874
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Paradoxical respiration, Respiratory distress OMIM:620011
Buerger Disease
Acrocyanosis ORPHA:36258
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Respiratory distress ORPHA:79312
Igg4-Related Ophthalmic Disease
Lymphoma, Abnormality of the anterior pituitary, Sialadenitis, Retroperitoneal fibrosis, Prostati... ORPHA:449563
Nipah Virus Disease
Cough, Respiratory distress ORPHA:99825
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress, Microcephaly ORPHA:927
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Phace Syndrome
Aortic root aneurysm, Hypothyroidism, Abnormal cerebral artery morphology, Abnormal carotid arter... ORPHA:42775
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Severe failure to thrive, Microcephaly ORPHA:3304
Brain-Lung-Thyroid Syndrome
Pulmonary arterial hypertension, Asthma, Agenesis of corpus callosum, Respiratory distress, Recur... ORPHA:209905
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplasia of the corpus callosum, Sleep apnea, Hypoplastic anterior commissure, Microcephaly OMIM:616975
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95513
Holocarboxylase Synthetase Deficiency
Respiratory distress, Weight loss, Tachypnea ORPHA:79242
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous, recurren... OMIM:600376
Gardner Syndrome
Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Thyroid nodule, Papillary thyroid... ORPHA:79665
Ciliary Dyskinesia, Primary, 2
Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Ciliary dyskinesia OMIM:606763
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Partial agenesis of the corpus callosum, Microcephaly, Death in infancy OMIM:617478
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Leukoencephalopathy, Cerebral edema, Cyanosis, Focal T2 hypointense ba... OMIM:252010
Rubinstein-Taybi Syndrome 1
Polyhydramnios, Premature thelarche, Flexion contracture, Broad eyebrow, Frontal hirsutism, Spina... OMIM:180849
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Bartter Syndrome Type 4
Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, Hypomagnesemia ORPHA:89938
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Failure to thrive, Dyspnea, Microcephaly, Respiratory failure ORPHA:2707
Mercury Poisoning
Interstitial pneumonitis, Respiratory distress, Abnormal cerebral white matter morphology, Dyspne... ORPHA:330021
Angioosteohypotrophic Syndrome
Prominent superficial veins, Edema, Venous malformation, Telangiectasia of the skin ORPHA:75508
Hepatocellular Carcinoma
Hypotension, Pedal edema, Hemobilia, Abnormality of the liver, Liver abscess, Hepatic necrosis, T... ORPHA:88673
Brown-Vialetto-Van Laere Syndrome 1
Respiratory insufficiency, Nocturnal hypoventilation, Respiratory distress, Dyspnea, Stridor OMIM:211530
Histiocytoid Cardiomyopathy
Cyanosis, Hydrocephalus, Failure to thrive, Cough, Agenesis of corpus callosum, Tachypnea ORPHA:137675
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Episodic tachypnea, Small for gestational age, Jaundice, Respiratory distress, Pneumonia, Overwei... ORPHA:26793
Atrial Septal Defect, Ostium Primum Type
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Abnormal respiratory system physio... ORPHA:99106
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Dyspnea, Respiratory distress ORPHA:2759
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Respiratory distress, Death in infancy OMIM:300219
Meige Disease
Pedal edema, Lymphedema, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Pleur... ORPHA:90186
Gaucher Disease, Perinatal Lethal
Decreased body weight, Petechiae, Purpura, Respiratory distress, Apnea, Microcephaly, Neonatal death OMIM:608013
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Thin corpus callosum, Microcephaly, Cyanosis OMIM:619580
Infantile Krabbe Disease
Abnormal periventricular white matter morphology, Hypointensity of cerebral white matter on MRI, ... ORPHA:206436
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Cyanosis, Microcephaly, Sudden episodic apnea ORPHA:159
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Respiratory distress, Abnormal globus pallidus morphology OMIM:251000
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Palmoplantar cutis laxa, Hyperintensity of cerebral white matter... ORPHA:363705
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory insufficiency, Failure to thrive, Respiratory distress, Generalized abnormality of skin ORPHA:367
Tularemia
Pleural effusion, Pneumonia, Cough, Respiratory distress ORPHA:3392
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Enlarged pituitary gland, Diabetes insipidus, Pituitary corti... ORPHA:300385
Livedoid Vasculopathy
Pedal edema, Ischemic stroke, Abnormal capillary morphology, Telangiectasia of the skin, Hyperten... ORPHA:542643
Double Outlet Right Ventricle
Cyanosis, Failure to thrive, Tachypnea ORPHA:3426
Microlissencephaly-Micromelia Syndrome
Failure to thrive, Secondary microcephaly, Respiratory distress, Lissencephaly ORPHA:50810
Multiple Carboxylase Deficiency
Respiratory distress, Tachypnea ORPHA:148
Bartter Syndrome, Type 2, Antenatal
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... OMIM:241200
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Opti... ORPHA:91350
Renal Nutcracker Syndrome
Dilatation of mesenteric artery, Abnormal autonomic nervous system physiology, Vulval varicose ve... ORPHA:71273
Carnitine Deficiency, Systemic Primary
Failure to thrive, Respiratory distress OMIM:212140
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Hypoplasia of the corpus callosum, Respiratory distress OMIM:617102
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Alopecia, Long philtrum, Brittle hair, Posterior pituitary... ORPHA:75389
Gangliocytoma
Adrenocorticotropic hormone excess, Neoplasm of the central nervous system, Spinal cord tumor, Ga... ORPHA:251937
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Thyroid hypoplasia, Optic nerve hypoplasia, Decreased circulating T4 concentration, Decreased cir... ORPHA:226307
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
Isolated Right Ventricular Hypoplasia
Dyspnea, Cyanosis, Hypoxemia ORPHA:439
Duplication Of The Pituitary Gland
Polyhydramnios, Abnormality of masseter muscle, Encephalocele, Wide mouth, Volvulus, Supernumerar... ORPHA:314621
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Fibrosarcoma, Cleft upper lip, Distichiasis, Predominantly lower limb l... ORPHA:33001
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Neonatal death, Respiratory distress, Pachygyria OMIM:231680
Lymphatic Malformation 6
Polyhydramnios, Hypothyroidism, Splenomegaly, Lymphedema, Nonimmune hydrops fetalis, Hydrocele te... OMIM:616843
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory distress, Multifocal hyperintensity of cerebral white matt... ORPHA:308552
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis OMIM:608106
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Microcephaly, Neonatal respiratory distress, Tracheomalacia, Agenesis of co... OMIM:217980
Eosinophilic Fasciitis
Acrocyanosis, Weight loss ORPHA:3165
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:745
Familial Idiopathic Dilatation Of The Right Atrium
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... ORPHA:1677
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Pericardial effusion, Adrenal insufficiency, Abnormal left ventricul... ORPHA:99827
Menkes Disease
Aplasia/Hypoplasia of the abdominal wall musculature, Vascular dilatation, Abnormal carotid arter... ORPHA:565
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Pedal edema, Distichiasis, Peripheral arterial stenosis, Varicose veins... OMIM:126320
Proteus-Like Syndrome
Splenomegaly, Venous insufficiency, Hemangioma, Polycystic ovaries, Abnormality of the parathyroi... ORPHA:2969
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hypo... ORPHA:300373
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis, Microcephaly ORPHA:896
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Respiratory distress, Stridor OMIM:615595
Autosomal Dominant Spastic Paraplegia Type 10
Upper limb amyotrophy, Distal lower limb amyotrophy, Lower limb muscle weakness, Dupuytren contra... ORPHA:100991
Scimitar Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Pulmonary arterial hypertension, Truncus... ORPHA:185
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Meningioma
Enlarged pituitary gland, Spinal meningioma, Decreased circulating cortisol level, Neoplasm of th... ORPHA:2495
Hypoglossia With Situs Inversus
Upper airway obstruction, Respiratory distress OMIM:612776
Familial Adenomatous Polyposis
Fibroma, Hypothyroidism, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal ... ORPHA:733
Esophageal Atresia
Cyanosis, Aspiration, Small for gestational age, Respiratory distress, Chronic pulmonary obstruct... ORPHA:1199
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Thymic Carcinoma
Edema, Neoplasm of the thymus, Abnormal vena cava morphology, Palpebral edema ORPHA:99868
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Agenesis of corpus callosum, Aspiration OMIM:618733
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypoplasia of the corpus callosum, Respiratory distress, Cavum septum pellucidum OMIM:619383
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:743
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Acrocyanosis, Microcephaly ORPHA:1867
Eosinophilic Granulomatosis With Polyangiitis
Respiratory insufficiency, Weight loss, Asthma, Purpura, Acrocyanosis, Cutis marmorata, Sinusitis... ORPHA:183
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Myotonic Dystrophy 1
Respiratory distress, Cerebral atrophy OMIM:160900
Meckel Syndrome 14
Cyanosis, Pneumothorax, Cardiorespiratory arrest, Holoprosencephaly, Occipital encephalocele OMIM:619879
Craniopharyngioma
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Optic atro... ORPHA:54595
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Lacunar stroke, Nonarteritic anterior ischemic optic neuropathy, Varicose veins, Stroke OMIM:125310
Sheehan Syndrome
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Sparse axil... ORPHA:91355
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Breathing dysregulation, Increased... ORPHA:99103
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Carotid artery stenosis, Long uvula, Alopecia, Narrow palate, High palate, ... ORPHA:536532
22Q11.2 Deletion Syndrome
Meningocele, Polyhydramnios, Hypothyroidism, Hypoplasia of the thymus, Truncus arteriosus, Optic ... ORPHA:567
Oculopharyngodistal Myopathy 1
Weight loss, Aspiration, Reduced forced vital capacity, Respiratory distress, Hypercapnia, Abnorm... OMIM:164310
Fructose-1,6-Bisphosphatase Deficiency
Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Respiratory distre... ORPHA:348
Microphthalmia With Limb Anomalies
Cleft upper lip, Abnormal eyebrow morphology, High palate, Long philtrum, Optic atrophy, Arrhinen... ORPHA:1106
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Facial telangiectasia, Elbow flexion contracture, Camptodactyly, Hepatos... OMIM:602782
Dravet Syndrome
Cyanotic episode ORPHA:33069
Ethylene Glycol Poisoning
Cyanosis, Cerebral edema, Abnormal pattern of respiration, Episodic respiratory distress, Tachypnea ORPHA:31826
Nasolacrimal Duct Cyst
Abnormal breath sound, Intercostal retractions, Paroxysmal dyspnea, Stridor, Episodic respiratory... ORPHA:141083
H Syndrome
Alopecia, Cleft upper lip, Abnormal eyebrow morphology, Facial telangiectasia, Abnormal cardiovas... ORPHA:168569
Hypothyroidism Due To Tsh Receptor Mutations
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:90673
Chitayat Syndrome
Tracheomalacia, Respiratory distress OMIM:617180
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Palmoplantar cutis laxa, Respiratory distress, Agenesis of corpus callosum OMIM:123790
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Cleft upper lip, Distichiasis, Lymphedema, Yellow nails, Predominantly ... OMIM:153400
Hypermobile Ehlers-Danlos Syndrome
Gingivitis, Aplasia/Hypoplasia of the abdominal wall musculature, Ascending tubular aorta aneurys... ORPHA:285
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Prolonged neonatal jaundice, Abno... ORPHA:226316
Synaptic Congenital Myasthenic Syndromes
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Exertional dyspnea, ... ORPHA:98915
X-Linked Intellectual Disability, Nascimento Type
Synophrys, Abnormal vena cava morphology, Peripheral pulmonary artery stenosis, Abnormal hair who... ORPHA:163956
Goldberg-Shprintzen Megacolon Syndrome
Sparse eyebrow, Sparse scalp hair, Bifid scrotum, Aganglionic megacolon, Hypospadias, Cleft palate ORPHA:66629
Foix-Alajouanine Syndrome
Lower limb muscle weakness, Distal lower limb amyotrophy, Arteriovenous fistula, Venous malformat... ORPHA:79093
Criss-Cross Heart
Respiratory insufficiency, Cyanosis ORPHA:1461
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Increased pulmonary vascular resis... ORPHA:99104
Neurotrophic Keratopathy
Diabetes mellitus, Corneal stromal edema, Abnormal fifth cranial nerve morphology ORPHA:137596
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Pulmonary embolism, Leukoencephalopathy, Jaundice, Hydrocephalus... ORPHA:79282
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, E... OMIM:617300
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Respiratory distress, Hypoplasia of the corpus callosum, Microce... ORPHA:2519
Erythrocytosis, Familial, 2
Pulmonary arterial hypertension, Hypotension, Elevated circulating erythropoietin concentration, ... OMIM:263400
Achondroplasia
Death in infancy, Hydrocephalus, Respiratory distress, Upper airway obstruction, Megalencephaly OMIM:100800
Tarp Syndrome
Apnea, Failure to thrive, Abnormal corpus callosum morphology, Cyanosis ORPHA:2886
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Aspiration pneumonia, Respiratory distress, Apnea, Recurrent pneumonia ORPHA:314655
Von Willebrand Disease
Venous insufficiency ORPHA:903
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Patent ductus arteriosus, Pulmonary arterial hypertension, Oral ulcer, Splenomegaly, High palate,... OMIM:612541
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... ORPHA:90674
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... OMIM:610199
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Hypotension, Pericardial effusion, Ventricular arrhythmia, Supraventric... ORPHA:91347
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Mucopolysaccharidosis-Plus Syndrome
Cerebral calcification, Respiratory distress, Recurrent pneumonia, Microcephaly, Death in childhood OMIM:617303
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Hydrocephalus, Respiratory distress, Pleural effusion, Apnea OMIM:261740
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the Achilles tendon, Optic ... ORPHA:1435
Moebius Syndrome
Respiratory distress OMIM:157900
Japanese Encephalitis
Cerebral edema, Abnormal substantia nigra morphology, Abnormal cerebral morphology, Respiratory p... ORPHA:79139
Kniest Dysplasia
Tracheomalacia, Respiratory distress, Umbilical hernia OMIM:156550
Prolactinoma
Female hypogonadism, Hypotension, Hypogonadism, Anterior hypopituitarism, Decreased circulating A... ORPHA:2965
Diaphanospondylodysostosis
Respiratory insufficiency, Tracheomalacia, Respiratory distress, Polymicrogyria OMIM:608022
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Rodrigues Blindness
Nasal flaring, Ectodermal dysplasia OMIM:268320
Truncus Arteriosus
Hypoplasia of the thymus, Truncus arteriosus, Pulmonary artery stenosis, Interrupted aortic arch,... ORPHA:3384
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
Trichorhinophalangeal Syndrome, Type Ii
Hydrometrocolpos, Multiple long-bone exostoses, Scapular winging, Thick eyebrow, Sparse hair, Sca... OMIM:150230
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth OMIM:151210
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Multiple lipomas, Abnormal cerebral vascular morphology, Hydrocele testis, Ovaria... ORPHA:276280
Hereditary Angioedema Type 1
Dermatographic urticaria, Respiratory distress, Dyspnea, Inspiratory stridor, Urticaria ORPHA:100050
Poems Syndrome
Pulmonary arterial hypertension, Weight loss, Acrocyanosis, Pleural effusion, Restrictive ventila... ORPHA:2905
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Spinal dysraphism, Lipoma, Venous malformation, Splenomegaly OMIM:612918
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypochloremia, Hyperkalemia, Hyponatremia ORPHA:90794
Unilateral Polymicrogyria
Cyanosis, Perisylvian polymicrogyria, Epistaxis, Apnea, Microcephaly, Cortical dysplasia ORPHA:268943
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Alopecia, Heart murmur, Absent eyelashes, Renal cyst, Abnormal vena cava morphology, Absent eyebr... ORPHA:166035
Pitt-Hopkins Syndrome
Small cerebral cortex, Aplasia/Hypoplasia of the corpus callosum, Acrocyanosis, Failure to thrive... ORPHA:2896
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Increased circulating gonadotropin level, Primary gonadal insufficiency, A... ORPHA:2232
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Erythema, Urticaria ORPHA:343
Igg4-Related Thyroid Disease
Hypothyroidism, Retroperitoneal fibrosis, Nodular goiter, Thyroiditis, Sclerosing cholangitis, Th... ORPHA:64744
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypothyroidism, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the pancreas, Abnormality of ... ORPHA:93111
Mogs-Cdg
Apnea, Hypoventilation, Respiratory distress, Hypoplasia of the corpus callosum ORPHA:79330
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Jaundice, Respiratory distress, Death in infancy OMIM:617156
Absence Of The Pulmonary Artery
Pulmonary arterial hypertension, Cyanosis, Hypocapnia, Bronchiectasis, Recurrent pneumonia, Ortho... ORPHA:980
Thoracic Outlet Syndrome
Edema, Varicose veins ORPHA:97330
Fucosidosis
Vascular skin abnormality, Failure to thrive, Acrocyanosis ORPHA:349
Loeys-Dietz Syndrome 6
Abdominal aortic aneurysm, High palate, Vertebral artery aneurysm, Carotid artery dissection, Car... OMIM:619656
Cryptococcosis
Cerebral edema, Cerebral cortical atrophy, Hydrocephalus, Respiratory distress, Pleural effusion,... ORPHA:1546
Pachyonychia Congenita
Failure to thrive, Respiratory distress ORPHA:2309
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Respiratory distress, Cerebral atrophy, Microcephaly OMIM:616271
Brucellosis
Abnormality of the peripheral nervous system, Abnormality of the liver, Transient ischemic attack... ORPHA:1304
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Gingival recession, Vascular dilatation, Pulmonic stenosis, Dental crowding, Short philtrum, Camp... OMIM:618343
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress, Cervical myelopathy OMIM:183900
Lujo Hemorrhagic Fever
Cerebral edema, Rhinitis, Purpura, Respiratory distress, Ecchymosis, Crackles, Nonproductive cough ORPHA:319213
Lymphatic Filariasis
Vaginal hydrocele, Lymphangiectasis, Abnormality of the scrotum, Lymphedema, Predominantly lower ... ORPHA:2035
Biotinidase Deficiency
Apnea, Myelopathy, Hyperventilation, Respiratory distress ORPHA:79241
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Lateral ventricle dilatation, Primary microcephaly, Failure to thrive, Secondary microcephaly, Ab... ORPHA:261552
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Medial flaring of the eyebrow, Flexion contracture, Ischemic stroke, Cleft soft palate, Ascending... OMIM:619503
Liposarcoma
Sarcoma, Varicose veins ORPHA:69078
Acquired Purpura Fulminans
Macular purpura, Acrocyanosis ORPHA:49566
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Respiratory distress, Failure to thrive, Dyspnea, Microcephaly, Erythema, Respirat... ORPHA:2556
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus, Respiratory distress, Umbilical hernia ORPHA:1555
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Prolonged neonatal jaundice, Respiratory distress OMIM:274150
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Failure to thrive in infancy, Respiratory distress OMIM:612852
Congenital Tracheal Stenosis
Cyanosis, Respiratory distress, Upper airway obstruction, Dyspnea, Neonatal asphyxia, Wheezing ORPHA:141127
Vascular Ehlers-Danlos Syndrome
Gingivitis, Ascending tubular aorta aneurysm, Microdontia, Uterine rupture, Abnormal oral frenulu... ORPHA:286
Shwachman-Diamond Syndrome 1
Neonatal respiratory distress, Failure to thrive, Small for gestational age, Respiratory distress OMIM:260400
Mandibulofacial Dysostosis, Guion-Almeida Type
Progressive microcephaly, Respiratory distress, Microcephaly OMIM:610536
Prader-Willi Syndrome Due To Translocation
Cerebral cortical atrophy, Lateral ventricle dilatation, Respiratory distress, Microcephaly, Obesity ORPHA:177907
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Capillary malformation of the lip, Varicose veins, Venous malformation, Lymphedema OMIM:613089
Ramos-Arroyo Syndrome
Decreased body weight, Respiratory distress, Severe failure to thrive, Primary microcephaly ORPHA:1051
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Respiratory distress OMIM:251110
Adnp Syndrome
Aspiration, Respiratory distress, Truncal obesity, Microcephaly, Focal white matter lesions, Cere... ORPHA:404448
Idiopathic Hypereosinophilic Syndrome
Pulmonary embolism, Asthma, Respiratory distress, Cutis marmorata, Vasculitis in the skin, Pleura... ORPHA:3260
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Leukoencephalopathy, Respiratory distress, Apnea, Failure to thrive, Abnormal basal ganglia MRI s... ORPHA:17
Radio-Renal Syndrome
Respiratory distress, Pleural effusion, Dyspnea, Chylothorax, Respiratory failure ORPHA:3015
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Q Fever
Weight loss, Purpura, Respiratory distress, Pleural effusion, Cough, Pneumonia ORPHA:781
Pfeiffer Syndrome Type 2
Tracheomalacia, Hydrocephalus, Respiratory distress, Aqueductal stenosis ORPHA:93259
Goodpasture Syndrome
Cyanosis, Exertional dyspnea, Weight loss, Tachypnea, Crackles, Restrictive ventilatory defect, C... OMIM:233450
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Myelomeningocele, Aqueductal stenosis, Hydrocephalus, Respiratory distress, Failure to ... OMIM:306955
Arterial Tortuosity Syndrome
Respiratory distress, Cardiorespiratory arrest, Dyspnea, Telangiectasia of the skin, Respiratory ... ORPHA:3342
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Splenomegaly, Flexion contracture, Elevated circulating thyroid-stimulat... OMIM:256040
Farber Disease
Respiratory insufficiency, Failure to thrive, Respiratory distress ORPHA:333
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Jaundice, Respiratory distress, Failure to thrive, Diffuse leukoencephalopathy, Prolonged neonata... OMIM:256810
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Respiratory distress OMIM:251100
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Failure to thrive, Exertional dyspnea, Cyanosis ORPHA:99050
Alternating Hemiplegia Of Childhood
Aspiration, Respiratory distress, Flushing, Apnea, Failure to thrive ORPHA:2131
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Lymphoma, Liver abscess, Epididymitis, Cholangitis, Viral hepatitis, Celiac disease, Diabetes mel... ORPHA:183675
Toxic Epidermal Necrolysis
Weight loss, Respiratory distress, Restrictive ventilatory defect, Cough, Erythema ORPHA:537
Bacterial Toxic-Shock Syndrome
Respiratory distress, Ecchymosis, Sinusitis, Pneumonia, Tachypnea ORPHA:36234
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Auriculocondylar Syndrome
Snoring, Obstructive sleep apnea, Respiratory distress ORPHA:137888
Myasthenia Gravis
Acrocyanosis, Dyspnea ORPHA:589
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Exertional dyspnea, Respiratory distress, Failure to thrive, Orthopnea... ORPHA:365
Osteogenesis Imperfecta, Type X
Recurrent pneumonia, Chronic lung disease, Death in childhood, Respiratory distress OMIM:613848
Congenital Enterovirus Infection
Pleural effusion, Respiratory distress ORPHA:292
Hemorrhagic Fever-Renal Syndrome
Decreased body weight, Petechiae, Respiratory distress, Ecchymosis, Pleural effusion, Epistaxis, ... ORPHA:340
Loeys-Dietz Syndrome 3
Aortic tortuosity, Bifid uvula, Camptodactyly, Ascending aortic dissection, Thoracic aortic aneur... OMIM:613795
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hypoplasia of the corpus callosum, Respiratory distress, Abnormal cortical gyration OMIM:300968
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Cachexia, Respiratory distress, Pneumonia, Failure to thrive in infancy... ORPHA:37042
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Pulmonary arterial hypertension, Hydrocephalus, Respiratory distress, Cerebral calcification, Air... ORPHA:505248
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Microcephaly ORPHA:438216
Mgat2-Cdg
Failure to thrive, Progressive microcephaly, Respiratory distress ORPHA:79329
Meier-Gorlin Syndrome 1
Death in infancy, Small for gestational age, Respiratory distress, Emphysema, Failure to thrive, ... OMIM:224690
Angioosteohypertrophic Syndrome
Multiple lipomas, Pulmonary embolism, Lymphedema, Visceral angiomatosis, Congestive heart failure... ORPHA:2346
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Repeated pneumothoraces, Hydrocephalus, Respiratory distress, Bruising... ORPHA:536467
Nocardiosis
Pneumothorax, Productive cough, Weight loss, Respiratory distress, Emphysema, Pleural effusion, D... ORPHA:31204
Atrioventricular septal defect 3
Pulmonary arterial hypertension, Cyanosis OMIM:600309
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pulmonary arterial hypertension, Splenomegaly, Hepatic fibrosis, Spontaneous, recurrent epistaxis... ORPHA:2072
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Focal T2 hyperintense basal ganglia lesion, Failure to thrive, Dyspnea, Hyperventilation, ... ORPHA:255210
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Aicardi-Goutières Syndrome
Porencephalic cyst, Arrhinencephaly, Acrocyanosis, Cerebral calcification, Multifocal cerebral wh... ORPHA:51
Pfeiffer Syndrome Type 3
Tracheomalacia, Respiratory distress, Aqueductal stenosis ORPHA:93260
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Prostatitis, Enteroviral hepatitis, Epidid... OMIM:307200
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Respiratory distress, Umbilical hernia OMIM:618188
Cocaine Intoxication
Pneumothorax, Ischemic stroke, Wheezing, Respiratory distress, Cough, Hyperventilation, Tachypnea ORPHA:90068
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Torticollis, Varicose veins, Cryptorchidism OMIM:314300
Campomelic Dysplasia
Tracheobronchomalacia, Spinal dysraphism, Spina bifida, Hydrocephalus, Respiratory distress, Apne... OMIM:114290
Aortic Arch Interruption
Cyanosis, Exertional dyspnea, Tachypnea, Respiratory distress ORPHA:2299
Gitelman Syndrome
Parathyroid adenoma, Pericardial effusion, Neoplasm of the pancreas, Graves disease, Palpitations... ORPHA:358
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Hypoventilation, Asthma, Cardiorespiratory arrest, Central hypoventilation, Obesity, Ob... ORPHA:293987
Cardiomyopathy, Familial Hypertrophic, 4
Dyspnea, Respiratory distress OMIM:115197
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage, Hemangioma, Meningioma, Choroidal hemangioma, Venous malformation, Neuroma ORPHA:221061
Ear-Patella-Short Stature Syndrome
Respiratory distress, Failure to thrive, Dyspnea, Microcephaly, Respiratory failure ORPHA:2554
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Respiratory distress, Failure to thrive, Fragile skin, Dyspnea, Stridor, Respirator... ORPHA:79404
Behcet Syndrome
Genital ulcers, Oral ulcer, Raynaud phenomenon, Epididymitis, Patchy alopecia OMIM:109650
Hutchinson-Gilford Progeria Syndrome
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Weight loss, Prominent superficial... ORPHA:740
Listeriosis
Jaundice, Respiratory distress, Miscarriage, Respiratory failure, Pneumonia ORPHA:533
Kasabach-Merritt Syndrome
Hypopnea, Purpura, Respiratory distress, Petechiae ORPHA:2330
Occipital Horn Syndrome
Vascular dilatation, Long philtrum, Hepatitis, Jaundice, Venous insufficiency, Exostoses, Cholest... ORPHA:198
Congenital Disorder Of Deglycosylation 1
Central sleep apnea, Decreased body weight, Respiratory distress, Microcephaly OMIM:615273
Schinzel-Giedion Syndrome
Cerebral cortical atrophy, Neural tube defect, Respiratory distress, Recurrent pneumonia, Hypopla... ORPHA:798
Dermatomyositis
Respiratory insufficiency, Pulmonary arterial hypertension, Cutaneous photosensitivity, Weight lo... ORPHA:221
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia OMIM:223900
Postinfectious Vasculitis
Ischemic stroke, Weight loss, Palpable purpura, Acrocyanosis, Vasculitis in the skin, Cutis marmo... ORPHA:48435
Eisenmenger Syndrome
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Hypoxemia, Respiratory distress, I... ORPHA:97214
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Respiratory distress, Cortical tubers, Cortical dysplasia, Respir... ORPHA:805
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Osteoglophonic Dysplasia
Failure to thrive, Respiratory distress OMIM:166250
Coccidioidomycosis
Pleural empyema, Hydrocephalus, Exudative pleural effusion, Respiratory distress, Cough, Pneumonia ORPHA:228123
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Hemothorax, Periodontitis, Descending aortic dissection, Uterine rupture,... OMIM:130050
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypohidrotic ectodermal dysplasia, Rhinitis, Periorbital wrinkles, Respiratory distress OMIM:305100
Colchicine Poisoning
Cardiorespiratory arrest, Respiratory distress ORPHA:31824
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Pedal edema, Abnormal aortic morphology, Sialadenitis, Ret... ORPHA:449395
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Epididymitis, Hepatocellular carcinoma, Prostatitis OMIM:300755
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Fragile skin, Microcephaly, Erythema, Neonatal respiratory distress, Respir... OMIM:614748
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Respiratory distress ORPHA:210122
Thauvin-Robinet-Faivre Syndrome
Nephroblastoma, Pedal edema, Macroglossia, Renal cyst, Varicose veins, Thick vermilion border OMIM:617107
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Patent ductus arteriosus, High anterior hairline, Abnormality of the anterior pituitary, Precocio... ORPHA:438213
Arboleda-Tham Syndrome
Recurrent aspiration pneumonia, Primary microcephaly, Respiratory distress, Microcephaly, Neonata... OMIM:616268
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Encephalomalacia, Cyanosis, Respiratory distress, Cerebral calci... ORPHA:51608
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Alopecia, Abnormal size of pituitary gland, Decreased response to growth hormone sti... ORPHA:293978
Varicose Veins
Varicose veins OMIM:192200
Norrie Disease
Vascular neoplasm, Optic atrophy, Neoplasm of the eye, Uterine rupture, Venous insufficiency, Dia... ORPHA:649
Primary Hyperoxaluria
Failure to thrive, Acrocyanosis, Cutis marmorata ORPHA:416
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Multicystic kidney dysplasia, Camptodactyly, Macroglossia, Spina bifida occulta, ... ORPHA:500095
8Q24.3 Microdeletion Syndrome
Small for gestational age, Branchial cyst, Respiratory distress, Spina bifida occulta, Secondary ... ORPHA:508488
Glomuvenous Malformation
Arteriovenous malformation, Gastrointestinal arteriovenous malformation, Venous malformation, Ora... ORPHA:83454
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Failure to thrive, Microcephaly, Respiratory distress, Diffuse cerebral atrophy ORPHA:83617
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring, Obesity ORPHA:466943
Congenital Total Pulmonary Venous Return Anomaly
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Apneic episodes in infancy, Respir... ORPHA:99125
Doors Syndrome
Aspiration pneumonia, Arrhinencephaly, Respiratory distress, Spina bifida occulta, Sirenomelia, M... ORPHA:79500
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Isolated Arrhinia
Respiratory distress ORPHA:1134
Cleidocranial Dysplasia 1
Neonatal respiratory distress, Respiratory distress OMIM:119600
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Small for gestational age, Failure to thrive, Respiratory distress, Umbilical hernia ORPHA:2255
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Rhinitis, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Chroni... ORPHA:95455
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Classical Ehlers-Danlos Syndrome
Acrocyanosis, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearance, Poo... ORPHA:287
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis, Decreased body weight, Microcephaly OMIM:303600
Stüve-Wiedemann Syndrome
Asthma, Apnea, Respiratory distress ORPHA:3206
Leptospirosis
Pleural effusion, Jaundice, Cough, Respiratory distress ORPHA:509
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Abnormal septum pellucidum morphology, Abnormal globus pallidus morphology,... ORPHA:99646
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis, Failure to thrive ORPHA:216694
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hypoplasia of the corpus callosum, Respiratory distress, Abnormal cortical gyration ORPHA:480880
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
Ulbright-Hodes Syndrome
Respiratory failure, Pneumothorax, Respiratory distress ORPHA:3404
Plague
Respiratory distress, Acute infectious pneumonia ORPHA:707
Alström Syndrome
Pulmonary arterial hypertension, Recurrent sinusitis, Chronic pulmonary obstruction, Respiratory ... ORPHA:64
Pmm2-Cdg
Failure to thrive, Aspiration pneumonia, Respiratory distress, Abnormal subcutaneous fat tissue d... ORPHA:79318
Goldberg-Shprintzen Syndrome
Limb hypertonia, Aganglionic megacolon, Oligodontia, Synophrys, Short philtrum, Everted lower lip... OMIM:609460

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Kifbp

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Kifbp.

No publications found that use IMPC mice or data for Kifbp.

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MGI Allele Allele Type Produced
Kifbptm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Kifbptm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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