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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
increased circulating chloride level Kifbptm1a(KOMP)Wtsi HET Early adult 1.81×10-19
preweaning lethality, complete penetrance Kifbptm1a(KOMP)Wtsi HOM   Early adult 0.00

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 Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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DSS Histology

Images

8 Images

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Anti-nuclear antibody assay

Images

6 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
Bifid scrotum, Sparse scalp hair, Hypospadias, Aganglionic megacolon, Sparse eyebrow, Cleft palate ORPHA:66629
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Aganglionic megacolon, Highly arched eyebrow, Synophrys, Oligodontia, Evert... 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
Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Papillary cystadenom... ORPHA:892
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly ORPHA:171703
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... OMIM:193300
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis, Lissencephaly, Hypoplasia o... OMIM:619466
Benign Schwannoma
Intestinal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth... ORPHA:252164
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy OMIM:254120
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis, Microcephaly OMIM:302000
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough, Failure to thrive OMIM:263000
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... OMIM:600638
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea, Secondary microcephaly OMIM:610992
Floating-Harbor Syndrome
Thin upper lip vermilion, Hypospadias, Celiac disease, Carious teeth, Cryptorchidism, Generalized... OMIM:136140
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive, Cyanosis ORPHA:91130
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Myelopathy, Cranial nerve compression, Abnorma... ORPHA:268882
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Glossopharyngeal Neuralgia
Vascular dilatation, Cranial nerve compression, Schwannoma, Jaw claudication, Abnormal glossophar... ORPHA:221098
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus ... OMIM:207950
Hereditary Methemoglobinemia
Cyanosis, Small for gestational age, Microcephaly, Temporal cortical atrophy, Exertional dyspnea,... ORPHA:621
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Floating-Harbor Syndrome
Hypospadias, Persistence of primary teeth, Celiac disease, Carious teeth, Precocious puberty, Cry... ORPHA:2044
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Reduced cerebral white matter volume, Microcephaly, Hypoplasia of the corpu... OMIM:617977
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Abnormal corpus striatum morphology ORPHA:238329
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... ORPHA:264675
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the you... OMIM:137920
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Simplified gyral pattern, Lateral ventricle dilatation, Lissencepha... ORPHA:284417
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Abnormal ... ORPHA:300570
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive, Hypoplasia of the corpus callosum, Microcephaly OMIM:300934
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... OMIM:619751
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Weight loss, Cough, Pleura... ORPHA:50251
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis, Obesity OMIM:257500
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Microcephaly, Asthma, Tachypnea, Pneumothorax, Hy... ORPHA:2257
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy, Failure to thrive, Polymicrogyria OMIM:616974
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis, Progressive microcephaly ORPHA:71277
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Streak ovary, Abnormality of female external genitalia, Abnormal periphe... ORPHA:168563
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... OMIM:614399
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure, Microcephaly ORPHA:1832
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight OMIM:300580
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Pachygyria, Thin corpus callosum ORPHA:572013
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... OMIM:601596
Lissencephaly 9 With Complex Brainstem Malformation
Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... OMIM:618325
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Cyanosis, Failure to thrive in infancy... ORPHA:488627
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Familial Multiple Nevi Flammei
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat... ORPHA:624
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Failure to thrive, Microcephaly ORPHA:26792
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Bardet-Biedl Syndrome 16
Respiratory distress, Obesity OMIM:615993
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Hypopl... ORPHA:89844
Combined Oxidative Phosphorylation Defect Type 23
Abnormal basal ganglia MRI signal intensity, Cyanosis, Stridor, Respiratory failure, Paroxysmal d... ORPHA:444013
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Cerebral white matter atrophy, Neonatal respiratory distr... OMIM:615042
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Pulmonary emb... ORPHA:90308
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia OMIM:301060
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... ORPHA:254875
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormal fifth cranial nerve morphology, Abnormality ... ORPHA:353253
Laryngeal Abductor Paralysis
Stridor, Cyanosis, Microcephaly OMIM:150260
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Cachexia, Weight loss OMIM:612075
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Weight loss, Hypoxemia, Restrictive ventilatory defect, Cough, Decre... ORPHA:747
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive, Death in childhood, Microcephaly OMIM:615597
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Focal T2 hyperintense basal ganglia lesion, Failure to thrive, Pe... OMIM:602473
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:613090
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough ORPHA:77260
Succinic Acidemia
Respiratory distress OMIM:600335
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Proteus Syndrome
Splenomegaly, Multiple lipomas, Hemangioma, Lipoma, Open mouth, Venous malformation OMIM:176920
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis, Microcephaly OMIM:250800
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Peripheral axonal neuropathy, Arterial dissection, High, narrow palate, Co... ORPHA:1900
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Microcephaly, Simplified gyral pattern, Abnormal cerebral white matter morphol... OMIM:614407
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Giant Axonal Neuropathy
Facial palsy, Abnormal pituitary gland morphology, Diffuse axonal swelling, Woolly hair, Limb mus... ORPHA:643
Breath-Holding Spells
Cyanosis OMIM:607578
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Failure to thrive, Respiratory insufficiency due to muscle weakness OMIM:613561
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Microceph... OMIM:618426
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria ORPHA:100057
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arteriovenous malformation, H... ORPHA:90307
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hydrocele testis, Angiosarcoma, Var... ORPHA:79452
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... ORPHA:137914
Enlarged Parietal Foramina
Occipital encephalocele, Multiple exostoses, Cleft lip, Myelomeningocele, Cleft palate, Abnormal ... ORPHA:60015
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformation, Abnormality of ... ORPHA:137667
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive, Cerebral cortical atrophy, Microcephaly OMIM:618201
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... ORPHA:36238
Diaphanospondylodysostosis
Respiratory distress, Myelomeningocele ORPHA:66637
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Progressive microcephaly OMIM:614741
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Neuronal loss in basal ganglia, Cerebral atrophy, Basal g... OMIM:604377
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Stridor, Cough ORPHA:142
Ethylmalonic Encephalopathy
Abnormal basal ganglia MRI signal intensity, Failure to thrive, Acrocyanosis, Petechiae ORPHA:51188
Bilateral Polymicrogyria
Central hypothyroidism, Wide mouth, Facial diplegia, Abnormal glossopharyngeal nerve morphology, ... ORPHA:268940
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Agnathia-Otocephaly Complex
Respiratory distress, Agenesis of corpus callosum, Holoprosencephaly, Tracheomalacia OMIM:202650
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Stt3B-Cdg
Respiratory distress, Failure to thrive, Microcephaly ORPHA:370924
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Large for gestational age ORPHA:45452
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Visceral angiomatosis, Congestive heart failure, Ovarian neoplasm, Neoplasm... ORPHA:137608
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive, Microcephaly ORPHA:261304
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Kaposi Sarcoma
Lymphoproliferative disorder, Lymphedema, Venous insufficiency, Abnormality of the spleen, Neopla... ORPHA:33276
Malaria
Respiratory distress ORPHA:673
Tetrasomy 5P
Respiratory distress, Pericallosal lipoma, Cyanosis, Hydrocephalus, Pulmonary arterial hypertensi... ORPHA:3309
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Microcephaly, Corpus callosum atrophy, Cerebral atrophy, Pulmonary arterial... OMIM:619272
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Cyanosis, Microcephaly, Abnormal basal ganglia morphology, Cerebral atr... ORPHA:391428
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Sepsis In Premature Infants
Cyanosis, Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal fla... ORPHA:90051
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough, Microcephaly ORPHA:86812
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Failure to thrive, Secondary microcephaly, Telangiectasia OMIM:608799
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Ischemic stroke, Pleural empyema, Cough,... ORPHA:2038
Folinic Acid-Responsive Seizures
Frontotemporal cerebral atrophy, Apnea, Respiratory distress ORPHA:79097
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Agenesis of corpus callosum, Holoprosencephaly ORPHA:990
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... ORPHA:2929
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Gjc2-Related Late-Onset Primary Lymphedema
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, V... ORPHA:568051
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age OMIM:616733
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... OMIM:615512
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Fg Syndrome Type 1
Dental crowding, Hypospadias, Abnormal large intestine morphology, Optic nerve hypoplasia, Malrot... ORPHA:93932
Slc35A1-Cdg
Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage ORPHA:238459
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Central apnea, Respiratory distress, Megalencephaly, Hydrocephalus, Respiratory failure, Neonatal... OMIM:616482
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Umbilical hernia, Large for gestational age, Prolonged neonatal jaundice ORPHA:226313
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles ORPHA:60041
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea, Cerebral atrophy OMIM:261680
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... ORPHA:90695
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Small for gestational age, Tachypnea, Hypoxemia, Failure to thrive ORPHA:860
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia ORPHA:596
Tricuspid Atresia
Cyanosis ORPHA:1209
Tick-Borne Encephalitis
Elevated hepatic transaminase, Skeletal muscle atrophy, Facial palsy, Abnormal glossopharyngeal n... ORPHA:297
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Failure to thrive, Hypoplasia of the corpus callosum, Microcephaly ORPHA:544503
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:602522
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Aicardi-Goutieres Syndrome 1
Intracerebral periventricular calcifications, Microcephaly, Basal ganglia calcification, Erythema... OMIM:225750
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Abnormal periventricular white matter morphology, Respiratory insufficiency ORPHA:1145
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Marcus-Gunn Syndrome
Cleft lip, Abnormal fifth cranial nerve morphology, Cleft palate ORPHA:91412
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Probst bundles, Hydrocephalus, Lateral ventricle dilatation, Agenesis of co... OMIM:612863
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Cerebral white matter atrophy, Abnormal periventricular white matter morpho... ORPHA:329178
Buerger Disease
Acrocyanosis ORPHA:36258
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Leukoencephalopathy, Resp... OMIM:220110
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar... OMIM:175050
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration OMIM:620011
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive, Microcephaly ORPHA:927
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:98914
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive ORPHA:79312
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... OMIM:211530
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Small for gestational age, Tachypne... ORPHA:555874
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Igg4-Related Ophthalmic Disease
Palpebral edema, Cholangitis, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbit... ORPHA:449563
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Myasthenic Syndrome, Congenital, 21, Presynaptic
Hyperintensity of cerebral white matter on MRI, Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Panhypophysitis
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... ORPHA:95513
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Visceral angiomatosis, Coarctation o... ORPHA:42775
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Cyanosis, Microcephaly ORPHA:3304
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia OMIM:606763
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Apnea, Microcephaly, Focal T2 hypointense basal ganglia lesion, Leuko... OMIM:252010
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Weight loss ORPHA:79242
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Thin corpus callosum, Microcephaly OMIM:619580
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... OMIM:600376
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Microcephaly, Asthma, Recurrent pneumonia, P... ORPHA:209905
Mercury Poisoning
Respiratory distress, Dyspnea, Abnormal cerebral white matter morphology, Respiratory failure, In... ORPHA:330021
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Pancreatic islet cell adenoma, Peptic ulcer, Elevated circulating growth hor... OMIM:131100
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Clapo Syndrome
Lymphedema, Varicose veins, Capillary malformation of the lip, Capillary hemangioma, Ganglioneuro... ORPHA:168984
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:89938
Rubinstein-Taybi Syndrome 1
Dental crowding, Premature thelarche, Polyhydramnios, Bilateral cryptorchidism, High, narrow pala... OMIM:180849
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Microcephaly, Dyspnea, Respiratory failure, Failure to thrive ORPHA:2707
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Partial agenesis of the corpus callosum, Cyanosis, Microcephaly OMIM:617478
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... ORPHA:99106
Histiocytoid Cardiomyopathy
Cyanosis, Hydrocephalus, Tachypnea, Cough, Failure to thrive, Agenesis of corpus callosum ORPHA:137675
Angioosteohypotrophic Syndrome
Venous malformation, Prominent superficial veins, Telangiectasia of the skin, Edema ORPHA:75508
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Small for gestational age, Pneumonia, Episodic tachypnea, Overweight, Jaund... ORPHA:26793
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency, Microcephaly ORPHA:159
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Coarse ... ORPHA:75389
Adenohypophysitis
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... ORPHA:95512
Infantile Krabbe Disease
Respiratory distress, Diffuse cerebral atrophy, Hypointensity of cerebral white matter on MRI, Ca... ORPHA:206436
Meige Disease
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Lymphedema, Peri... ORPHA:90186
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Neonatal death OMIM:300219
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Microcephaly, Decreased body weight, Neonatal death, Petechiae, Purpura OMIM:608013
Duplication Of The Pituitary Gland
Encephalocele, Polyhydramnios, Supernumerary tooth, Abnormal pituitary gland morphology, Abnormal... ORPHA:314621
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Failure to thrive, Generalized abnormality of skin, Respiratory insufficiency ORPHA:367
Double Outlet Right Ventricle
Failure to thrive, Cyanosis, Tachypnea ORPHA:3426
Livedoid Vasculopathy
Diabetes mellitus, Telangiectasia of the skin, Abnormal capillary morphology, Abnormality of the ... ORPHA:542643
Carnitine Deficiency, Systemic Primary
Respiratory distress, Failure to thrive OMIM:212140
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Alopecia, Hypogonadotropic hypogonadism, Limb joint contracture, Carious... OMIM:612079
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Abnormal globus pallidus morphology, Failure to thrive OMIM:251000
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... OMIM:241200
Craniofaciofrontodigital Syndrome
Respiratory distress, Prominent superficial veins, Large for gestational age, Dyspnea, Hyperinten... ORPHA:363705
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive, Lissencephaly, Secondary microcephaly ORPHA:50810
Renal Nutcracker Syndrome
Tachycardia, Orthostatic hypotension, Vulval varicose vein, Varicose veins, Syncope, Abnormal aut... ORPHA:71273
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose veins, Stroke, Nonart... OMIM:125310
Lymphedema-Distichiasis Syndrome
Diabetes mellitus, Predominantly lower limb lymphedema, Cleft upper lip, Patent ductus arteriosus... ORPHA:33001
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Hypoplasia of the corpus callosum OMIM:617102
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis OMIM:608106
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Pachygyria, Neonatal death OMIM:231680
Isolated Atp Synthase Deficiency
Respiratory distress, Cerebral cortical atrophy, Microcephaly ORPHA:254913
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly OMIM:616975
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Multifocal hyperintensity of cerebral white matter on MRI, Respiratory failure requiring assisted... ORPHA:308552
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Microcephaly, Tracheomalacia, Agenesis of co... OMIM:217980
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Eosinophilic Fasciitis
Acrocyanosis, Weight loss ORPHA:3165
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, Sinus bradycardia, Varicose ... OMIM:126320
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... OMIM:616843
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor, Failure to thrive OMIM:615595
Proteus-Like Syndrome
Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroid gland, Venous insuffi... ORPHA:2969
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis, Microcephaly ORPHA:896
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Malabsorption, Venous insufficiency, Wooll... ORPHA:565
Scimitar Syndrome
Left-to-right shunt, Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery ... ORPHA:185
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:745
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Internal hemorrhage, Hepa... ORPHA:99827
Autosomal Dominant Spastic Paraplegia Type 10
Distal lower limb amyotrophy, Dupuytren contracture, Peripheral axonal neuropathy, Upper limb amy... ORPHA:100991
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Esophageal Atresia
Respiratory distress, Cyanosis, Small for gestational age, Failure to thrive in infancy, Episodic... ORPHA:1199
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... ORPHA:300373
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Cavum septum pellucidum, Hypoplasia of the corpus callosum OMIM:619383
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration, Agenesis of corpus callosum OMIM:618733
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Axonal degeneration, Abnormal sensory nerve conduction velocity, Camptodactyly, Abnormal peripher... ORPHA:88628
Craniopharyngioma
Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi... ORPHA:54595
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Thymic Carcinoma
Neoplasm of the thymus, Abnormal vena cava morphology, Palpebral edema, Edema ORPHA:99868
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Weight loss, Urticaria, Cough, Acr... ORPHA:183
Myotonic Dystrophy 1
Respiratory distress, Cerebral atrophy OMIM:160900
Meckel Syndrome 14
Occipital encephalocele, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Holoprosencephaly OMIM:619879
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia, Microcephaly ORPHA:1867
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Dravet Syndrome
Cyanotic episode ORPHA:33069
Sheehan Syndrome
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... ORPHA:91355
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:743
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Small for gestational age, Recurrent pneumonia, Failure to thrive, Progress... OMIM:607143
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cleft lip, Cryptorchidism, High palate, Small pituitary gland, Del... OMIM:612702
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
22Q11.2 Deletion Syndrome
Polyhydramnios, Abnormal aortic arch morphology, Short philtrum, Abnormality of the uterus, Hypop... ORPHA:567
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Joint contracture of the 5th finger, Micro... OMIM:602782
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia, Long uvula, Diabetes mellitus, Carotid artery stenosis, Pericardial effusion, Cryptorch... ORPHA:536532
Ethylene Glycol Poisoning
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Cerebral edema ORPHA:31826
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:739
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft upper lip, Lymphedema, Yell... OMIM:153400
H Syndrome
Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Malabsorption, Cleft upper lip, Abnorma... ORPHA:168569
Neurotrophic Keratopathy
Corneal stromal edema, Diabetes mellitus, Abnormal fifth cranial nerve morphology ORPHA:137596
Beare-Stevenson Cutis Gyrata Syndrome
Palmoplantar cutis laxa, Hydrocephalus, Agenesis of corpus callosum, Respiratory distress OMIM:123790
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Asplenia, Neonatal death, Hypospadias, Nonimmune hydrops fetalis, Esophageal atre... OMIM:265380
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Goldberg-Shprintzen Megacolon Syndrome
Bifid scrotum, Sparse scalp hair, Hypospadias, Aganglionic megacolon, Sparse eyebrow, Cleft palate ORPHA:66629
X-Linked Intellectual Disability, Nascimento Type
Abnormal hair whorl, Deep philtrum, Synophrys, Downturned corners of mouth, Micropenis, Generaliz... ORPHA:163956
Foix-Alajouanine Syndrome
Distal lower limb amyotrophy, Myelopathy, Cervical myelopathy, Arteriovenous fistula, Distal lowe... ORPHA:79093
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension, Hypoplasia of the corpus callosum, Microce... ORPHA:2519
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension, Hemang... OMIM:263400
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Microcephaly, Pulmonary embolism, Jaundice, Hydrocephalus, Leukoencephalopa... ORPHA:79282
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Tarp Syndrome
Failure to thrive, Cyanosis, Apnea, Abnormal corpus callosum morphology ORPHA:2886
Achondroplasia
Respiratory distress, Death in infancy, Megalencephaly, Hydrocephalus, Upper airway obstruction OMIM:100800
Prolactinoma
Abnormal hair quantity, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating ... ORPHA:2965
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Cleft palate, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Moebius Syndrome
Respiratory distress OMIM:157900
Von Willebrand Disease
Venous insufficiency ORPHA:903
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Japanese Encephalitis
Respiratory distress, Abnormal substantia nigra morphology, Abnormal caudate nucleus morphology, ... ORPHA:79139
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Cerebral calcification, Microcephaly, Recurrent pneumonia, Death in childhood OMIM:617303
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Kniest Dysplasia
Respiratory distress, Umbilical hernia, Tracheomalacia OMIM:156550
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Prominent superficial veins, Perianal abscess, Splenomegaly, Cryptorchidism, Patent... OMIM:612541
Diaphanospondylodysostosis
Respiratory distress, Polymicrogyria, Tracheomalacia, Respiratory insufficiency OMIM:608022
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Downturned corners of mouth, Clitoral hyp... ORPHA:398079
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Hydrocephalus, Pleural effusion OMIM:261740
Hypermobile Ehlers-Danlos Syndrome
Arterial dissection, Abnormality of the dentition, Malabsorption, Decreased nerve conduction velo... ORPHA:285
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter... ORPHA:64744
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Microcephaly, Cortical dysplasia, Perisylvian polymicrogyria ORPHA:268943
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Myocardial infarction, Cerebral arteriovenous malformation, Bilateral cryptorc... OMIM:150230
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... ORPHA:2232
Microphthalmia With Limb Anomalies
Abnormal eyebrow morphology, Macrodontia, Cleft upper lip, Venous insufficiency, Cryptorchidism, ... ORPHA:1106
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth OMIM:151210
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor ORPHA:100050
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ventilatory defect, Pu... ORPHA:2905
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Hypochloremia ORPHA:90794
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dental crowding, Decreased response to growth hormone stimulation test, Fetal ascites, Ascending ... OMIM:619503
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion, Cerebral cortic... ORPHA:1546
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Spinal dysraphism, Lipoma, Nephroblastoma, Venous malformation OMIM:612918
Double Outlet Left Ventricle
Failure to thrive, Cyanosis, Tachypnea ORPHA:3427
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Di... ORPHA:93111
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Dental crowding, Vascular dilatation, Varicose veins, Thin vermilion border, S... OMIM:618343
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... ORPHA:980
Thoracic Outlet Syndrome
Varicose veins, Edema ORPHA:97330
Fucosidosis
Failure to thrive, Acrocyanosis, Vascular skin abnormality ORPHA:349
Loeys-Dietz Syndrome 6
Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dilatation of the cerebral a... OMIM:619656
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Abnormality of the endocrine system, Cryptorchidism, Absent eyelashes, ... ORPHA:166035
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Jaundice, Failure to thrive OMIM:617156
Biotinidase Deficiency
Respiratory distress, Myelopathy, Apnea, Hyperventilation ORPHA:79241
Pachyonychia Congenita
Respiratory distress, Failure to thrive ORPHA:2309
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal venous morphology, Telangiectasia of the skin, Abnormal cerebral vascular morphology, Hy... ORPHA:276280
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia, Cerebral atrophy, Microcephaly OMIM:616271
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Ecchymosis, Cerebral edema, Purpura ORPHA:319213
Pitt-Hopkins Syndrome
Failure to thrive, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Small cerebral cortex... ORPHA:2896
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Cervical myelopathy, Restrictive ventilatory defect OMIM:183900
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Failure to thrive, Focal hypointensity of cerebral white matter on MRI, Hypoplastic anterior comm... ORPHA:261552
Brucellosis
Hepatomegaly, Pericarditis, Liver abscess, Transient ischemic attack, Abnormality of the peripher... ORPHA:1304
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea, Hypoplasia of the corpus callosum ORPHA:79330
Liposarcoma
Varicose veins, Sarcoma ORPHA:69078
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Microcephaly, Obesity, Lateral ventricle dilatation, Cerebral cortical atrophy ORPHA:177907
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Nasofrontal encephalocele, Small pituitary gland OMIM:614195
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal basal ganglia MRI signal intensity, Respiratory distress, Apnea, Microcephaly, Leukoence... ORPHA:17
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Adnp Syndrome
Respiratory distress, Microcephaly, Cerebral atrophy, Aspiration, Truncal obesity, Hypoplasia of ... ORPHA:404448
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Umbilical hernia, Hydrocephalus ORPHA:1555
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Failure to thrive in infancy OMIM:612852
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Absent septum pellucidum, Microcephaly, Dyspnea, Hydrocephalus, Erythema, R... ORPHA:2556
Pfeiffer Syndrome Type 2
Respiratory distress, Hydrocephalus, Aqueductal stenosis, Tracheomalacia ORPHA:93259
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Progressive microcephaly, Microcephaly OMIM:610536
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Failure to thrive, Small for gestational age OMIM:260400
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Failure to thrive OMIM:251110
Ramos-Arroyo Syndrome
Respiratory distress, Severe failure to thrive, Decreased body weight, Primary microcephaly ORPHA:1051
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Cerebral atrophy OMIM:620306
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Failure to ... OMIM:306955
Farber Disease
Respiratory distress, Failure to thrive, Respiratory insufficiency ORPHA:333
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Abnormality of the gingiva, Gingivitis, Periodontitis, Uterine rupture, Micr... ORPHA:286
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cutis marmorata, Pulmonary embolism, Dyspnea, Angioedema, Asthma, Urticaria... ORPHA:3260
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Cough... OMIM:233450
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Aspiration, Failure to thrive, Flushing ORPHA:2131
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Capillary malformation of the lip, Venous malformation, Lymphedema OMIM:613089
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cleft upper... OMIM:610829
Q Fever
Respiratory distress, Pneumonia, Weight loss, Cough, Pleural effusion, Purpura ORPHA:781
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores... ORPHA:3342
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Failure to thrive, Cyanosis, Exertional dyspnea ORPHA:99050
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Jaundice, Diffuse leukoencephalopathy, Prolonged neonatal jaundice, Failure... OMIM:256810
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Toxic Epidermal Necrolysis
Respiratory distress, Erythema, Weight loss, Restrictive ventilatory defect, Cough ORPHA:537
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphedema, Orchitis, Epididymitis, Vaginal hydrocele, Hydro... ORPHA:2035
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Ecchymosis ORPHA:36234
Myasthenia Gravis
Dyspnea, Acrocyanosis ORPHA:589
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood OMIM:613848
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Failure to thrive in infancy, Pneumonia, Cachexia, Urticaria, Interstitial ... ORPHA:37042
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Liver abscess, Diabetes mellitus, Cholangitis, Celiac disease... ORPHA:183675
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Microcephaly ORPHA:438216
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, High palate, Abdominal aortic aneurysm, Bifid uvula, Eosinophilic inf... OMIM:613795
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... ORPHA:340
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Abnormal cortical gyration, Hypoplasia of the corpus callosum OMIM:300968
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Cerebral calcification, Hydrocephalus, Stridor, Pulmonary arterial hyperten... ORPHA:505248
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Hydrocephalus, Respiratory insufficiency, Restrict... ORPHA:536467
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Small for gestational age, Microcephaly, Emphysema, Failu... OMIM:224690
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Failure to thrive OMIM:251100
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Hype... ORPHA:91351
Mgat2-Cdg
Respiratory distress, Failure to thrive, Progressive microcephaly ORPHA:79329
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, We... ORPHA:31204
Pfeiffer Syndrome Type 3
Respiratory distress, Aqueductal stenosis, Tracheomalacia ORPHA:93260
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Episodic respiratory distress, Focal T2 hyperintense basal ganglia lesion, Failur... ORPHA:255210
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Sp... OMIM:256040
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Papilledema, Abnormality of the spleen, Splenomegaly, Esophagea... ORPHA:2072
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... ORPHA:365
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Epididymitis, Delay... OMIM:307200
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Hydrocephalus, Spinal d... OMIM:114290
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Umbilical hernia, Communicating hydrocephalus OMIM:618188
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea ORPHA:2299
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Ischemic stroke, Cough, Hyperventilation ORPHA:90068
Gitelman Syndrome
Maternal diabetes, Prominent U wave, Abnormal T-wave, Hashimoto thyroiditis, Raynaud phenomenon, ... ORPHA:358
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion, Leukoencephalopathy OMIM:620369
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage, Venous malformation, Neuroma, Choroidal hemangioma, Hemangioma, Meningioma ORPHA:221061
Ear-Patella-Short Stature Syndrome
Respiratory distress, Microcephaly, Dyspnea, Respiratory failure, Failure to thrive ORPHA:2554
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Obesity, Cardiorespiratory arrest ORPHA:293987
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Torticollis, Varicose veins, Oligozoospermia OMIM:314300
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Failure to ... ORPHA:79404
Behcet Syndrome
Genital ulcers, Raynaud phenomenon, Epididymitis, Oral ulcer, Patchy alopecia OMIM:109650
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Weight loss, Severe fail... ORPHA:740
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Alopecia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Celi... ORPHA:227982
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Acrocyanosis OMIM:223900
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Petechiae, Purpura ORPHA:2330
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Alopecia, Hypergonadotropic hypogonadism, Celiac disease, Xerostomia, Hepatit... ORPHA:227990
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure ORPHA:533
Occipital Horn Syndrome
Thick hair, Hiatus hernia, Venous insufficiency, High, narrow palate, Jaundice, Hepatitis, Choles... ORPHA:198
Aicardi-Goutières Syndrome
Cerebral calcification, Cutis marmorata, Microcephaly, Porencephalic cyst, Multifocal cerebral wh... ORPHA:51
Dermatomyositis
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Weight loss, Acrocyanosis, Pulmo... ORPHA:221
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Schinzel-Giedion Syndrome
Respiratory distress, Failure to thrive in infancy, Recurrent pneumonia, Neural tube defect, Hypo... ORPHA:798
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Weight loss, Ischemic stroke, Vasculitis in the ski... ORPHA:48435
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... ORPHA:97214
Tuberous Sclerosis Complex
Respiratory distress, Cortical dysplasia, Noncommunicating hydrocephalus, Respiratory failure, Ge... ORPHA:805
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Decreased body weight, Microcephaly OMIM:615273
Igg4-Related Kidney Disease
Pericarditis, Retroperitoneal fibrosis, Abnormal mesentery morphology, Abnormality of the anterio... ORPHA:449395
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles OMIM:305100
Coccidioidomycosis
Respiratory distress, Pneumonia, Hydrocephalus, Pleural empyema, Cough, Exudative pleural effusion ORPHA:228123
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Ehlers-Danlos Syndrome, Vascular Type
Recurrent intrapulmonary hemorrhage, Carotid cavernous fistula, Diffuse alveolar hemorrhage, Cryp... OMIM:130050
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Precocious puberty, Cryptorchidism, Deep philtrum, Abnormality of the endocrin... ORPHA:438213
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension ORPHA:210122
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Microcephaly, Erythema, Respiratory acidosis... OMIM:614748
Thauvin-Robinet-Faivre Syndrome
Renal cyst, Pedal edema, Macroglossia, Varicose veins, Thick vermilion border, Nephroblastoma OMIM:617107
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Alopecia, Dec... ORPHA:293978
Osteoglophonic Dysplasia
Respiratory distress, Failure to thrive OMIM:166250
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cerebral calcification, Cyanosis, Failure to thrive in infancy, Encephaloma... ORPHA:51608
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Microcephaly, Primary microcephaly, Recurren... OMIM:616268
8Q24.3 Microdeletion Syndrome
Branchial cyst, Respiratory distress, Small for gestational age, Secondary microcephaly, Hypoplas... ORPHA:508488
Primary Hyperoxaluria
Failure to thrive, Acrocyanosis, Cutis marmorata ORPHA:416
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Epididymitis, Prostatitis, Hepatocellular carcinoma OMIM:300755
Varicose Veins
Varicose veins OMIM:192200
Norrie Disease
Diabetes mellitus, Venous insufficiency, Cryptorchidism, Optic atrophy, Thin vermilion border, Ut... ORPHA:649
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Macroglossia, Varicose veins, Thick vermilion border, Camptodactyly... ORPHA:500095
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Oral mucosa nodule, Arteriovenous malformation, Veno... ORPHA:83454
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring, Obesity ORPHA:466943
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Diffuse cerebral atrophy, Failure to thrive, Microcephaly ORPHA:83617
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... ORPHA:99125
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Umbilical hernia, Failure to thrive, Small for gestational age ORPHA:2255
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Doors Syndrome
Respiratory distress, Microcephaly, Sirenomelia, Aspiration pneumonia, Spina bifida occulta, Poly... ORPHA:79500
Isolated Arrhinia
Respiratory distress ORPHA:1134
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co... ORPHA:95455
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Umbilical hernia, Ecchymosis, Acrocyanosis, Frag... ORPHA:287
Coffin-Lowry Syndrome
Decreased body weight, Acrocyanosis, Cutis marmorata, Microcephaly OMIM:303600
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea ORPHA:3206
Leptospirosis
Respiratory distress, Pleural effusion, Jaundice, Cough ORPHA:509
Congenitally Corrected Transposition Of The Great Arteries
Failure to thrive, Cyanosis ORPHA:216694
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Cerebral white matter atrophy, Abnormal globus pallidus morphology, Recurre... ORPHA:99646
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Abnormal cortical gyration, Hypoplasia of the corpus callosum ORPHA:480880
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax ORPHA:3404
Plague
Respiratory distress, Acute infectious pneumonia ORPHA:707
Alström Syndrome
Respiratory distress, Dorsocervical fat pad, Chronic pulmonary obstruction, Recurrent pneumonia, ... ORPHA:64
Pmm2-Cdg
Respiratory distress, Abnormal subcutaneous fat tissue distribution, Failure to thrive, Aspiratio... ORPHA:79318
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Aganglionic megacolon, Highly arched eyebrow, Synophrys, Oligodontia, Evert... 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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