Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
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

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Viewing: all phenotypes

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 Forepaw

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

Ear epidermis immunophenotyping

Images

12 Images

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.

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
Arrhythmia, Pancreatic islet cell adenoma, Elevated circulating catecholamine level, Palpitations... ORPHA:892
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Polymicrogyria, Primary microcephaly, Agenesis of corpus callosum ORPHA:171703
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Benign Schwannoma
Peripheral schwannoma, Schwannoma, Abnormality of the liver, Abnormal cranial nerve morphology, V... ORPHA:252164
Von Hippel-Lindau Syndrome
Retinal capillary hemangioma, Pheochromocytoma, Neoplasm of the pancreas, Multiple renal cysts, S... OMIM:193300
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Bullous Dystrophy, Hereditary Macular Type
Microcephaly, Acrocyanosis, Death in childhood OMIM:302000
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Dysgenesis of the basal gangl... OMIM:600638
Phosphoserine Aminotransferase Deficiency
Secondary microcephaly, Cyanotic episode, Apnea, Death in infancy OMIM:610992
Floating-Harbor Syndrome
Varicocele, Carious teeth, Downturned corners of mouth, Umbilical hernia, Glandular hypospadias, ... OMIM:136140
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Lissencephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:619466
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Umbilical hernia OMIM:254120
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Failure to thrive ORPHA:91130
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Weight loss ORPHA:141152
Arnold-Chiari Malformation Type I
Myelopathy, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Abnormality of... ORPHA:268882
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Chronic Pneumonitis Of Infancy
Intercostal retractions, Failure to thrive, Respiratory distress, Cyanosis, Tachypnea, Hyperventi... ORPHA:91359
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hereditary Methemoglobinemia
Temporal cortical atrophy, Small basal ganglia, Cyanosis, Microcephaly, Frontal cortical atrophy,... ORPHA:621
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Neoplasm, Abnormal glossopharyngeal nerve morphology, Abno... ORPHA:221098
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Failure to thrive OMIM:263000
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Carious teeth, Celiac disease, Tetralogy of Fallot, Persistence o... 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
Cerebral hypoplasia, Reduced cerebral white matter volume, Respiratory distress, Hypoplasia of th... OMIM:617977
Renal Cysts And Diabetes Syndrome
Hypospadias, Elevated circulating hepatic transaminase concentration, Maturity-onset diabetes of ... OMIM:137920
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Failure to thrive in infancy, Hypoplasia of the corpus callosum, Ce... ORPHA:284417
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Cyanosis, Agenesis of corpus callosum, Hydrocephalus, Spin... OMIM:207950
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Polymicrogyria, Type II lissencephaly, Small basal ganglia, Abnorma... ORPHA:300570
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Microcephaly, Failure to thrive, Hypoplasia of the corpus callosum OMIM:300934
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis, Hypoventilation OMIM:257500
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Abnormal corpus striatum morphology ORPHA:238329
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Skeletal muscle atrophy, Abnormal vagina morphology... ORPHA:168563
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Failure to thrive, Death in infancy, Polymicrogyria OMIM:616974
Classic Glucose Transporter Type 1 Deficiency Syndrome
Progressive microcephaly, Central apnea, Cyanosis ORPHA:71277
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth OMIM:619751
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Pachygyria, Thin corpus callosum, Abnormality of the anterior commissure ORPHA:572013
Surfactant Metabolism Dysfunction, Pulmonary, 1
Failure to thrive, Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Dyspnea OMIM:265120
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Lis... OMIM:618325
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Lateral ventricle dilatation, Failure to thrive in infancy, Cyanosis, ... ORPHA:488627
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Microcephaly, Failure to thrive ORPHA:26792
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Microcephaly, Dyspnea ORPHA:1832
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Abnormal cranial nerve morphology, Venous insuffi... ORPHA:624
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Cerebral calcification, Hypoplasia of the corpus callosum, Agenesis of corp... ORPHA:89844
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Distal amyotrophy, Decreased motor ne... OMIM:601596
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight OMIM:300580
High Altitude Pulmonary Edema
Cyanosis, Tachypnea, Orthopnea, Dyspnea, Hypoxemia ORPHA:330012
Cryptogenic Organizing Pneumonia
Respiratory distress, Cyanosis, Weight loss, Dyspnea, Hypoxemia ORPHA:1302
Bardet-Biedl Syndrome 16
Respiratory distress, Obesity OMIM:615993
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Hyperoxemia, Dyspnea, Small for gestational age ORPHA:70589
Surfactant Metabolism Dysfunction, Pulmonary, 3
Failure to thrive, Respiratory distress, Apnea, Cyanosis, Death in infancy, Neonatal death, Tachy... OMIM:610921
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Hypotension, Ectopic anterior pituitary... ORPHA:95494
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, Weight loss, Failure to thrive OMIM:612075
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Spermatocele OMIM:301060
Encephalopathy, Ethylmalonic
Failure to thrive, Focal T2 hyperintense basal ganglia lesion, Petechiae, Death in infancy, Acroc... OMIM:602473
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Edema, Congestive heart failure, Ascites, Abnorm... ORPHA:90308
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Microcephaly, Failure to thrive, Death in childhood OMIM:615597
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:613090
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Failure to thrive OMIM:614399
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Secondary microcephaly, Cerebral white matter atrophy, Death in infancy OMIM:615042
Pleural Mesothelioma
Respiratory distress, Dyspnea, Weight loss ORPHA:50251
Succinic Acidemia
Respiratory distress OMIM:600335
Immunodeficiency 95
Respiratory distress OMIM:619773
Proteus Syndrome
Venous malformation, Open mouth, Splenomegaly, Multiple lipomas, Hemangioma, Lipoma OMIM:176920
Primary Pulmonary Hypoplasia
Failure to thrive, Apnea, Cyanosis, Microcephaly, Tachypnea, Hypoxemia ORPHA:2257
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, High, narrow palate, Aortic dissection, Abnormal venous morphology, Umbilica... ORPHA:1900
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Abnormal basal ganglia MRI signal intensity, Paroxysmal dyspnea, Failure to thrive ORPHA:444013
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Hypoplasia of the corpus callosum, Microcephaly, Progressive microcephaly, Abn... OMIM:614407
Acquired Methemoglobinemia
Respiratory distress, Hypoxemia, Dyspnea, Cyanosis ORPHA:464453
Giant Axonal Neuropathy
Limb muscle weakness, Pili canaliculi, Abnormality of the Achilles tendon, Woolly hair, Facial pa... ORPHA:643
Milroy Disease
Neoplasm of the skin, Predominantly lower limb lymphedema, Abnormal venous morphology, Lymphedema... ORPHA:79452
Breath-Holding Spells
Cyanosis OMIM:607578
Thymic Neuroendocrine Tumor
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... ORPHA:97289
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive OMIM:245590
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Failure to thrive in infancy, Tachypnea, Hypoxemia ORPHA:264675
Parkes Weber Syndrome
Arteriovenous malformation, Myelopathy, Vascular tortuosity, Lower limb muscle weakness, Venous m... ORPHA:90307
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis ORPHA:2414
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Nasal flaring, Hypoxemia ORPHA:70587
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Cerebral cortical atrophy, Microcephaly, Failure to thrive OMIM:618201
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Arteriovenous malformation, Chylothorax, Congestive heart failure, Lymphedema, Facial ... ORPHA:137667
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Strawberry tongue, Xerostomia, Smooth tongue, Abnormalit... ORPHA:353253
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Ethylmalonic Encephalopathy
Petechiae, Abnormal basal ganglia MRI signal intensity, Acrocyanosis, Failure to thrive ORPHA:51188
Diaphanospondylodysostosis
Respiratory distress, Myelomeningocele ORPHA:66637
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Progressive microcephaly OMIM:614741
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Failure to thrive, Cerebral atrophy, Respiratory distress, Microcephaly, Jaundice OMIM:250940
Enlarged Parietal Foramina
Cleft lip, Occipital encephalocele, Myelomeningocele, Venous malformation, Abnormal cerebral vein... ORPHA:60015
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Microcephaly, Exertional dyspnea, Cyanosis OMIM:250800
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Failure to thrive OMIM:613561
Juvenile Polyposis Syndrome
Arteriovenous malformation, Stomach cancer, Narrow mouth, Juvenile gastrointestinal polyposis, Mu... ORPHA:2929
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Failure to thrive, Cerebral atrophy, Respiratory distress, Apnea, Death in childhood, D... OMIM:618426
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea, Hypoxemia ORPHA:140896
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Dyspnea OMIM:267450
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Large for gestational age ORPHA:45452
Stt3B-Cdg
Respiratory distress, Microcephaly, Failure to thrive ORPHA:370924
Postsynaptic Congenital Myasthenic Syndromes
Exertional dyspnea, Orthopnea, Cyanosis ORPHA:98913
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Microcephaly, Failure to thrive ORPHA:261304
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Arteriovenous malformation, Neoplasm of the breast, Congestive heart failure, Neoplasm of the thy... ORPHA:137608
Kaposi Sarcoma
Neoplasm of the skin, Lymphedema, Abnormality of the spleen, Abnormality of the liver, Venous ins... ORPHA:33276
Bilateral Polymicrogyria
Central hypothyroidism, Wide mouth, Facial diplegia, Abnormal glossopharyngeal nerve morphology, ... ORPHA:268940
Agnathia-Otocephaly Complex
Respiratory distress, Holoprosencephaly, Agenesis of corpus callosum OMIM:202650
Malaria
Respiratory distress ORPHA:673
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Neuronal loss in basal ganglia, Focal cortical dysplasia, Cerebral atrophy, Respiratory distress,... OMIM:604377
Asbestos Intoxication
Oxygen desaturation on exertion, Cyanosis, Exertional dyspnea, Dyspnea, Hypoxemia ORPHA:2302
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Failure to thrive in infancy ORPHA:254875
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Cerebral atrophy, Abnormal basal ganglia morphology, Cyanosis, D... ORPHA:391428
Laryngeal Abductor Paralysis
Microcephaly, Cyanosis OMIM:150260
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Angioedema ORPHA:100057
Tetrasomy 5P
Failure to thrive, Respiratory distress, Cyanosis, Pericallosal lipoma, Hydrocephalus ORPHA:3309
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Hypotension, Ectopic anterior pituitary gland, Decreased response to... ORPHA:90695
Laryngomalacia
Respiratory distress OMIM:150280
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Frontotemporal cerebral atrophy ORPHA:79097
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Secondary microcephaly, Failure to thrive, Telangiectasia OMIM:608799
Gjc2-Related Late-Onset Primary Lymphedema
Facial edema, Predominantly lower limb lymphedema, Genital edema, Abnormal lymphatic vessel morph... ORPHA:568051
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Holoprosencephaly, Agenesis of corpus callosum ORPHA:990
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Visceral angi... ORPHA:774
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age OMIM:616733
Fg Syndrome Type 1
Small pituitary gland, Pyloric stenosis, Abnormal large intestine morphology, Dental crowding, Lo... ORPHA:93932
Autoimmune Pulmonary Alveolar Proteinosis
Dyspnea, Hypoxemia, Weight loss, Cyanosis ORPHA:747
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral cortical atrophy, Failure to thrive, Cerebral atrophy, Respiratory distress, Microcephal... OMIM:619272
Recurrent Respiratory Papillomatosis
Respiratory distress, Tachypnea, Dyspnea, Failure to thrive ORPHA:60032
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Microcephaly, Dyspnea ORPHA:86812
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis, Cerebral atrophy OMIM:261680
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Large for gestational age, Prolonged neonatal jaundice, Umbilical hernia ORPHA:226313
Surfactant Metabolism Dysfunction, Pulmonary, 2
Failure to thrive, Respiratory distress, Cyanosis, Tachypnea, Dyspnea, Hypoxemia OMIM:610913
Congenitally Uncorrected Transposition Of The Great Arteries
Small for gestational age, Failure to thrive, Cyanosis, Tachypnea, Hypoxemia ORPHA:860
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Gastrointestinal carcinoma, Hematochezia, Aortic dissection, Mitral regurgitation, Juv... OMIM:175050
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Laryngotracheoesophageal Cleft
Dyspnea, Cyanosis ORPHA:2004
Aicardi-Goutieres Syndrome 1
Leukoencephalopathy, Erythema, Cerebral atrophy, Intracerebral periventricular calcifications, Ba... OMIM:225750
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Gastrointestinal angiodysplasia, High-output congestive heart failure, Nasa... OMIM:187300
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Microcephaly, Failure to thrive, Hypoplasia of the corpus callosum ORPHA:544503
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Tricuspid Atresia
Cyanosis ORPHA:1209
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Dyspnea, Weight loss ORPHA:411703
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:602522
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Sepsis In Premature Infants
Petechiae, Cyanosis, Decreased body weight, Dyspnea, Jaundice, Nasal flaring, Purpura, Small for ... ORPHA:90051
Pulmonary Alveolar Proteinosis, Acquired
Dyspnea, Hypoxemia, Cyanosis OMIM:610910
Acute Lung Injury
Respiratory distress, Tachypnea, Dyspnea, Hypoxemia ORPHA:178320
Slc35A1-Cdg
Respiratory distress, Subcutaneous hemorrhage, Hypoxemia ORPHA:238459
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... ORPHA:91349
Idiopathic Pulmonary Fibrosis
Acrocyanosis, Orthodeoxia, Exertional dyspnea ORPHA:2032
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... OMIM:601678
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Respiratory distress, Probst bundles, Agenesis of corpus callosum, ... OMIM:612863
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Hypoplasia of the corpus callosum, Neonatal death, Palmoplantar cutis laxa,... OMIM:616482
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Tick-Borne Encephalitis
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Abnormal crania... ORPHA:297
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Microcephaly, Failure to thrive ORPHA:927
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Failure to thrive, Respiratory distress, Abnormal periventricular white matter morphology, Cerebr... ORPHA:329178
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Cleft lip, Cleft palate ORPHA:91412
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive ORPHA:79312
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas... OMIM:610655
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration OMIM:620011
Acute Interstitial Pneumonia
Dyspnea, Tachypnea, Hypoxemia, Cyanosis ORPHA:79126
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Weight loss ORPHA:142
46,Xy Sex Reversal 7
Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon... OMIM:233420
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Neoplasm of the lung, Retroperitoneal fibrosis, Lymphoma... ORPHA:449563
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Phace Syndrome
Optic nerve hypoplasia, Aortic root aneurysm, Capillary hemangioma, Tetralogy of Fallot, Abnormal... ORPHA:42775
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Severe failure to thrive, Microcephaly ORPHA:3304
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Weight loss ORPHA:79242
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level ORPHA:89938
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Abnormal periventricular white matter morphology ORPHA:1145
Choanal Atresia
Respiratory distress, Cyanosis ORPHA:137914
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress ORPHA:1143
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea, Death in infancy OMIM:614299
Triosephosphate Isomerase Deficiency
Failure to thrive, Cerebral atrophy, Respiratory distress, Death in infancy, Death in adolescence... OMIM:615512
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Microcephaly, Apnea, Cyanosis, Thin corpus callosum OMIM:619580
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Familial Nasal Acilia
Respiratory distress, Dyspnea ORPHA:922
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Telangiectasia, Hereditary Hemorrhagic, Type 2
Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Cirrhosis, Facial telangiectasia, C... OMIM:600376
Clapo Syndrome
Capillary hemangioma, Lymphedema, Capillary malformation of the lip, Venous malformation, Ganglio... ORPHA:168984
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Rubinstein-Taybi Syndrome 1
Facial hypertrichosis, Narrow mouth, Cryptorchidism, Frontal upsweep of hair, Low posterior hairl... OMIM:180849
Isolated Right Ventricular Hypoplasia
Dyspnea, Hypoxemia, Cyanosis ORPHA:439
Structural Heart Defects And Renal Anomalies Syndrome
Microcephaly, Partial agenesis of the corpus callosum, Cyanosis, Death in infancy OMIM:617478
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Multiple unerupted teeth, Brain neoplas... ORPHA:79665
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Neonatal death OMIM:300219
Angioosteohypotrophic Syndrome
Telangiectasia of the skin, Venous malformation, Prominent superficial veins, Edema ORPHA:75508
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Ganglioneuroma, Adrenocorticotropi... ORPHA:251937
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Long philtrum, Nail dystrophy, Pulmonary artery stenosis, Abnormality of t... ORPHA:75389
Avian Influenza
Respiratory distress, Tachypnea, Dyspnea, Hypoxemia, Miscarriage ORPHA:454836
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Petechiae, Neonatal death, Decreased body weight, Microcephaly, Purpura OMIM:608013
Congenital Heart Block
Cyanosis ORPHA:60041
X-Linked Centronuclear Myopathy
Respiratory distress ORPHA:596
Meige Disease
Facial edema, Predominantly lower limb lymphedema, Lymphedema, Peripheral edema, Pleural effusion... ORPHA:90186
Carnitine Deficiency, Systemic Primary
Respiratory distress, Failure to thrive OMIM:212140
Livedoid Vasculopathy
Graves disease, Ischemic stroke, Venous insufficiency, Hypertension, Telangiectasia of the skin, ... ORPHA:542643
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Alopecia, Carious teeth, Skeletal muscle atrophy, Central adrenal insuffic... OMIM:612079
Double Outlet Right Ventricle
Cyanosis, Tachypnea, Failure to thrive ORPHA:3426
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypochloremia, I... OMIM:241200
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Vascular granular osmiophilic material deposition, Nonarteritic anterior ischemic optic neuropath... OMIM:125310
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Obesity, Tachypnea, Jaundice, Overweight, Small for ges... ORPHA:26793
Necrotizing Enterocolitis
Cyanosis, Apnea, Small for gestational age ORPHA:391673
Renal Nutcracker Syndrome
Varicocele, Dilatation of mesenteric artery, Renal artery stenosis, Vulval varicose vein, Syncope... ORPHA:71273
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea, Failure to thrive OMIM:237310
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Leukoencephalopathy, Failure to thrive, Respiratory distress, Death in childhood, Exertional dyspnea OMIM:220110
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Secondary microcephaly, Failure to thrive, Lissencephaly ORPHA:50810
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Hypoplasia of the corpus callosum OMIM:617102
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Mitochondrial Complex I Deficiency, Nuclear Type 1
Leukoencephalopathy, Failure to thrive, Focal T2 hyperintense basal ganglia lesion, Apnea, Cyanos... OMIM:252010
Histiocytoid Cardiomyopathy
Failure to thrive, Cyanosis, Agenesis of corpus callosum, Tachypnea, Hydrocephalus ORPHA:137675
Isolated Atp Synthase Deficiency
Respiratory distress, Cerebral cortical atrophy, Microcephaly ORPHA:254913
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis OMIM:608106
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Intestinal lymphangiectasia, Lymphedema, Ascites, P... OMIM:616843
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Tachypnea, Dyspnea, Hypoxemia ORPHA:36238
Meningioma
Neoplasm of the skin, Increased circulating prolactin concentration, Lower limb muscle weakness, ... ORPHA:2495
Eosinophilic Fasciitis
Weight loss, Acrocyanosis ORPHA:3165
Infantile Krabbe Disease
Failure to thrive, Respiratory distress, Abnormal periventricular white matter morphology, Hypoin... ORPHA:206436
Congenital Myasthenic Syndrome
Apneic episodes precipitated by illness, fatigue, stress, Cyanosis, Sudden episodic apnea, Episod... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Apneic episodes precipitated by illness, fatigue, stress, Cyanosis, Sudden episodic apnea, Episod... ORPHA:98914
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Neonatal death, Jaundice, Pachygyria OMIM:231680
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Microcephaly, Dyspnea, Failure to thrive ORPHA:2707
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microcephaly, Hypoplastic anterior commissure, Hypoplasia of the corpus callosum OMIM:616975
Duplication Of The Pituitary Gland
Volvulus, Teratoma, Encephalocele, Abnormal hypothalamus morphology, Abnormal pituitary gland mor... ORPHA:314621
Craniofaciofrontodigital Syndrome
Premature skin wrinkling, Respiratory distress, Large for gestational age, Hyperintensity of cere... ORPHA:363705
Congenital Tricuspid Valve Dysplasia
Cyanosis, Tachypnea, Hypoxemia, Small for gestational age ORPHA:555874
Pulmonary Capillary Hemangiomatosis
Dyspnea, Hypoxemia, Exertional dyspnea, Cyanosis ORPHA:199241
Pulmonary Arteriovenous Malformation
Ischemic stroke, Cyanosis, Telangiectasia, Dyspnea, Hypoxemia ORPHA:2038
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Abnormality of the hepatic vasculature, Complete heart block with narrow ... ORPHA:1677
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress OMIM:620375
Nipah Virus Disease
Respiratory distress ORPHA:99825
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Open bite, Splenom... ORPHA:2969
Carnitine-Acylcarnitine Translocase Deficiency
Microcephaly, Cyanosis, Sudden episodic apnea ORPHA:159
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:745
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Abnormal globus pallidus morphology, Failure to thrive OMIM:251000
Autosomal Dominant Spastic Paraplegia Type 10
Leg muscle stiffness, Lower limb muscle weakness, Distal lower limb amyotrophy, Dupuytren contrac... ORPHA:100991
Myasthenic Syndrome, Congenital, 21, Presynaptic
Hyperintensity of cerebral white matter on MRI, Apnea, Cyanosis OMIM:617239
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Hepatomegaly, Tachycardia, Jaundice, Epididymitis, Diffuse alveolar hemorrhage... ORPHA:99827
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Multiple Mitochondrial Dysfunctions Syndrome 7
Secondary microcephaly, Apnea, Cyanosis, Hypoplasia of the corpus callosum, Abnormal diffusion we... OMIM:620423
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility ORPHA:335
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Cleft upper lip, Varicose veins, Arrhythmia, Distichiasis, F... ORPHA:33001
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Failure to thrive, Generalized abnormality of skin ORPHA:367
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Menkes Disease
Gastrointestinal hemorrhage, Umbilical hernia, Arterial stenosis, Abnormal palate morphology, Ven... ORPHA:565
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hypoplasia of the corpus callosum, Cavum septum pellucidum OMIM:619383
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea ORPHA:2759
Alfadhel Syndrome
Microcephaly, Nasal flaring OMIM:620655
Dravet Syndrome
Cyanotic episode ORPHA:33069
Myotonic Dystrophy 1
Respiratory distress, Cerebral atrophy OMIM:160900
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia ORPHA:70588
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Distichiasis, Varicose veins, Peripheral arterial stenosis, Patent ductus arte... OMIM:126320
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal sensory nerve conduction velocity, Axonal degeneration, Abnormal peripheral nerve morpho... ORPHA:88628
Craniopharyngioma
Optic atrophy, Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Cent... ORPHA:54595
Mercury Poisoning
Respiratory distress, Dyspnea, Abnormal cerebral white matter morphology ORPHA:330021
Loeys-Dietz Syndrome 6
Bifid uvula, Vertebral artery aneurysm, Broad uvula, Arterial tortuosity, Dilatation of the cereb... OMIM:619656
Thymic Carcinoma
Neoplasm of the thymus, Palpebral edema, Abnormal vena cava morphology, Edema ORPHA:99868
Scimitar Syndrome
Descending aorta hypoplasia, Pulmonary artery hypoplasia, Abnormal hemidiaphragm morphology, Cong... ORPHA:185
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Tachypnea, Hypoxemia OMIM:610978
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Sparse pubic hair, Adrenocorticot... ORPHA:91355
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:743
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Periorbital edema, Parotitis, Cholestasis, Elevated circulating aspartate amino... OMIM:620376
Prader-Willi Syndrome
Premature adrenarche, Small scrotum, Xerostomia, Periodontitis, Central adrenal insufficiency, Cr... ORPHA:739
Thyroid Lymphoma
Respiratory distress, Dyspnea ORPHA:97285
Atrial Septal Defect, Ostium Primum Type
Failure to thrive, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea ORPHA:99106
Classical-Like Ehlers-Danlos Syndrome Type 2
Tooth malposition, Narrow palate, Alopecia, Aortic root aneurysm, Periodontitis, Prominent veins ... ORPHA:536532
Complete Atrioventricular Septal Defect
Cyanosis, Tachypnea, Intercostal retractions, Failure to thrive ORPHA:1329
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cleft lip, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty,... OMIM:612702
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Nocturnal hypoventilation, Dyspnea, Death in childhood OMIM:211530
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... ORPHA:348
22Q11.2 Deletion Syndrome
Carious teeth, Narrow mouth, Cryptorchidism, Hypoparathyroidism, Anal atresia, Polycystic kidney ... ORPHA:567
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology, Corneal stromal edema, Diabetes mellitus ORPHA:137596
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Tachypnea, Cerebral edema ORPHA:31826
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Progressive microcephaly, Small for gestational age, Failure to thrive OMIM:607143
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive OMIM:615595
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Cyanosis, Tachypnea, Weight loss, Exertional dyspnea, Dyspnea, H... ORPHA:60025
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Microcephaly, Agenesis of corpus callosum OMIM:217980
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Tularemia
Respiratory distress ORPHA:3392
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Agenesis of corpus callosum OMIM:618733
Brain-Lung-Thyroid Syndrome
Failure to thrive, Respiratory distress, Agenesis of corpus callosum, Microcephaly, Cavum septum ... ORPHA:209905
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Palmoplantar cutis laxa, Hydrocephalus, Agenesis of corpus callosum OMIM:123790
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism, Micropenis, Cleft palate OMIM:614880
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Joint contracture of the 5th finger, Flexion contracture of finger, Left supe... OMIM:602782
H Syndrome
Alopecia, Cleft upper lip, Hypertrichosis, Hypogonadism, Decreased testicular size, Azoospermia, ... ORPHA:168569
X-Linked Intellectual Disability, Nascimento Type
Lumbar hypertrichosis, Cryptorchidism, Low posterior hairline, Generalized hirsutism, Hypospadias... ORPHA:163956
Goldberg-Shprintzen Megacolon Syndrome
Sparse eyebrow, Sparse scalp hair, Bifid scrotum, Aganglionic megacolon, Hypospadias, Cleft palate ORPHA:66629
Foix-Alajouanine Syndrome
Cervical myelopathy, Myelopathy, Lower limb muscle weakness, Venous malformation, Distal lower li... ORPHA:79093
Erythrocytosis, Familial, 2
Hypotension, Elevated circulating erythropoietin concentration, Varicose veins, Stroke, Hemangiom... OMIM:263400
Hypoglossia With Situs Inversus
Respiratory distress OMIM:612776
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Waardenburg Syndrome Type 3
Microcephaly, Acrocyanosis ORPHA:896
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Yellow nails, Chylothorax, Cleft upper lip, Lymphedema, Tetr... OMIM:153400
Tarp Syndrome
Abnormal corpus callosum morphology, Cyanosis, Apnea, Failure to thrive ORPHA:2886
Moebius Syndrome
Respiratory distress OMIM:157900
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small scrotum, Xerostomia, Absence of pubertal development, Type II diabete... ORPHA:398079
Chitayat Syndrome
Respiratory distress OMIM:617180
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress OMIM:620166
Prolactinoma
Secondary growth hormone deficiency, Male hypogonadism, Hypotension, Adrenocorticotropin deficien... ORPHA:2965
Loeys-Dietz Syndrome 4
High, narrow palate, Bifid uvula, Aortic root aneurysm, Aortic dissection, Broad uvula, Arterial ... OMIM:614816
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Hereditary Bullous Dystrophy, Macular Type
Microcephaly, Acrocyanosis ORPHA:1867
Japanese Encephalitis
Abnormality of the internal capsule, Abnormal pattern of respiration, Respiratory distress, Abnor... ORPHA:79139
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... ORPHA:91347
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatosplenomegaly, Cryptorchidism, Myopathy, Mitral regurgitation, Splenomegaly, Hypoplasia of t... OMIM:612541
Cardiogenic Shock
Dyspnea, Cyanosis, Orthopnea, Hypoxemia ORPHA:97292
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Agonadism, Decre... ORPHA:2232
Esophageal Atresia
Respiratory distress, Failure to thrive in infancy, Cyanosis, Episodic respiratory distress, Smal... ORPHA:1199
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, Muscle hemorrhage, Venou... ORPHA:903
Rodrigues Blindness
Nasal flaring, Ectodermal dysplasia OMIM:268320
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Microcephaly, Cerebral calcification, Death in childhood OMIM:617303
Congenital Tracheomalacia
Intercostal retractions, Failure to thrive, Apnea, Cyanosis, Dyspnea ORPHA:95430
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Hydrocephalus OMIM:261740
Microphthalmia With Limb Anomalies
Optic atrophy, Camptodactyly of 2nd-5th fingers, Long philtrum, Cleft upper lip, Macrodontia, Abn... ORPHA:1106
Hypermobile Ehlers-Danlos Syndrome
Arterial dissection, Epistaxis, High, narrow palate, Aortic root aneurysm, Dental crowding, Umbil... ORPHA:285
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cholestasis, Hepatosplenomegaly, Cleft soft palate, Narrow mouth, Cryptorchidism, Hip contracture... OMIM:619503
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth OMIM:151210
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Hypoventilation ORPHA:314655
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Microcephaly, Hypoplasia of the corpus callosum ORPHA:2519
Kniest Dysplasia
Respiratory distress, Umbilical hernia OMIM:156550
Achondroplasia
Respiratory distress, Death in infancy, Hydrocephalus, Megalencephaly OMIM:100800
Trichorhinophalangeal Syndrome, Type Ii
Rib exostoses, Carious teeth, Hydrometrocolpos, Osteoma, Sparse hair, Chronic gastritis, Thin upp... OMIM:150230
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Hypochloremia ORPHA:90794
Proteus Syndrome
Rib exostoses, Carious teeth, Arteriovenous malformation, Decreased muscle mass, Myofibrillar myo... ORPHA:744
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Leukoencephalopathy, Failure to thrive, Cerebral atrophy, Respiratory distress, Periventricular w... ORPHA:79282
Fucosidosis
Acrocyanosis, Failure to thrive, Vascular skin abnormality ORPHA:349
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Alopecia, Cryptorchidism, Abnormality of the endocrine system, Absent eyelashes, Renal cyst, Abse... ORPHA:166035
Meckel Syndrome 14
Holoprosencephaly, Occipital encephalocele, Cyanosis OMIM:619879
Unilateral Polymicrogyria
Apnea, Cyanosis, Microcephaly, Cortical dysplasia, Perisylvian polymicrogyria ORPHA:268943
Biotinidase Deficiency
Respiratory distress, Hyperventilation, Apnea, Myelopathy ORPHA:79241
Ciliary Dyskinesia, Primary, 2
Respiratory distress OMIM:606763
Mogs-Cdg
Respiratory distress, Apnea, Hypoventilation, Hypoplasia of the corpus callosum ORPHA:79330
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal cerebral vascular morphology, Abnormal venous morphology, Nephroblastoma, Multiple lipom... ORPHA:276280
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Purpura, Urticaria ORPHA:343
Thoracic Outlet Syndrome
Edema, Varicose veins ORPHA:97330
Double Outlet Left Ventricle
Cyanosis, Tachypnea, Failure to thrive ORPHA:3427
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress OMIM:617895
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Dental crowding, Aortic dissection, Gingival recession, Thin vermilion border, Smooth philtrum, V... OMIM:618343
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism, Venous malformation, Splenomegaly, Nephroblastoma, Lipoma OMIM:612918
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland, Optic disc pallor, Nasofrontal encephalocele OMIM:614195
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Jaundice, Failure to thrive, Death in infancy OMIM:617156
Truncus Arteriosus
Abnormal coronary artery morphology, Pulmonary edema, Single coronary artery origin, Tachycardia,... ORPHA:3384
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio... ORPHA:93111
Pachyonychia Congenita
Respiratory distress, Failure to thrive ORPHA:2309
Nasolacrimal Duct Cyst
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress ORPHA:141083
Pitt-Hopkins Syndrome
Small cerebral cortex, Failure to thrive, Abnormal pattern of respiration, Aplasia/Hypoplasia of ... ORPHA:2896
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal corpus callosum morphology, Hypoplastic anterior commissure, Lateral ventricle dilatatio... ORPHA:261552
Liposarcoma
Sarcoma, Varicose veins ORPHA:69078
Diaphanospondylodysostosis
Respiratory distress, Polymicrogyria OMIM:608022
Prader-Willi Syndrome Due To Translocation
Cerebral cortical atrophy, Lateral ventricle dilatation, Respiratory distress, Obesity, Microcephaly ORPHA:177907
Brucellosis
Arteritis, Liver abscess, Transient ischemic attack, Hypersplenism, Abnormality of the liver, Spl... ORPHA:1304
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hydrocephalus, Umbilical hernia ORPHA:1555
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Failure to thrive in infancy OMIM:612852
Eosinophilic Granulomatosis With Polyangiitis
Cutis marmorata, Purpura, Weight loss, Acrocyanosis, Urticaria ORPHA:183
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Leukoencephalopathy, Failure to thrive, Cerebral atrophy, Respiratory distress, Apnea, Microcepha... ORPHA:17
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Microcephaly, Cerebral atrophy OMIM:616271
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Microcephaly, Progressive microcephaly OMIM:610536
Heterotaxy, Visceral, 1, X-Linked
Failure to thrive, Respiratory distress, Myelomeningocele, Cyanosis, Hydrocephalus, Aqueductal st... OMIM:306955
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphedema, Abnormal scrotum morphology, Orchitis, Vaginal h... ORPHA:2035
Absence Of The Pulmonary Artery
Atrial flutter, Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Tetralogy... ORPHA:980
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Microphthalmia With Linear Skin Defects Syndrome
Erythema, Failure to thrive, Respiratory distress, Absent septum pellucidum, Agenesis of corpus c... ORPHA:2556
Ramos-Arroyo Syndrome
Respiratory distress, Severe failure to thrive, Primary microcephaly, Decreased body weight ORPHA:1051
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive ORPHA:308552
Oculopharyngodistal Myopathy 1
Respiratory distress, Weight loss, Abnormal cerebral white matter morphology, Hypercapnia OMIM:164310
Vascular Ehlers-Danlos Syndrome
Carious teeth, Periodontitis, Uterine rupture, Narrow mouth, Cryptorchidism, Abnormal intestine m... ORPHA:286
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Dermatographic urticaria, Urticaria ORPHA:100050
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Atrial Septal Defect, Coronary Sinus Type
Dyspnea, Exertional dyspnea, Cyanosis ORPHA:99104
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Exertional dyspnea, Hypoventilation ORPHA:98915
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Respiratory distress, Prolonged neonatal jaundice, Jaundice, Diffuse leukoence... OMIM:256810
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Cervical myelopathy OMIM:183900
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Orthopnea, Cyanosis ORPHA:99103
Adnp Syndrome
Cerebral atrophy, Umbilical hernia, Respiratory distress, Hypoplasia of the corpus callosum, Foca... ORPHA:404448
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Lymphedema, Capillary malformation of the lip, Venous malformation, Varicose veins OMIM:613089
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Failure to thrive OMIM:251110
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Microcephaly ORPHA:438216
Pfeiffer Syndrome Type 2
Respiratory distress, Aqueductal stenosis, Hydrocephalus ORPHA:93259
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Failure to thrive OMIM:251100
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Failure to thrive, Flushing ORPHA:2131
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Lymphoma, Liver abscess, Celiac disease, Chronic gastritis, Cholecystitis, Cholangitis, Diabetes ... ORPHA:183675
Myasthenia Gravis
Dyspnea, Acrocyanosis ORPHA:589
Farber Disease
Respiratory distress, Failure to thrive ORPHA:333
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Abnormal cortical gyration, Hypoplasia of the corpus callosum OMIM:300968
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Focal T2 hyperintense basal ganglia lesion, Apnea, Episodic respiratory distre... ORPHA:255210
Mgat2-Cdg
Respiratory distress, Progressive microcephaly, Failure to thrive ORPHA:79329
Igg4-Related Thyroid Disease
Graves disease, Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing chol... ORPHA:64744
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Patent ductus arteriosus, Ectopic anterior pituitary gland OMIM:620558
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Cerebral atrophy OMIM:620306
Lujo Hemorrhagic Fever
Respiratory distress, Cerebral edema, Purpura, Ecchymosis ORPHA:319213
Shwachman-Diamond Syndrome 1
Respiratory distress, Small for gestational age, Failure to thrive OMIM:260400
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... ORPHA:91351
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Failure to thrive in infancy, Cachexia, Urticaria ORPHA:37042
Neuroblastoma
Respiratory distress, Weight loss ORPHA:635
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitation, Eosinophilic infiltr... OMIM:613795
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Elevated circul... OMIM:256040
Cryptococcosis
Cerebral cortical atrophy, Respiratory distress, Hydrocephalus, Dyspnea, Cerebral edema ORPHA:1546
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in childhood, Death in infancy OMIM:620278
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Exertional dyspnea, Failure to thrive ORPHA:99050
Meier-Gorlin Syndrome 1
Failure to thrive, Respiratory distress, Death in infancy, Microcephaly, Small for gestational age OMIM:224690
Arterial Tortuosity Syndrome
Respiratory distress, Prematurely aged appearance, Dyspnea, Telangiectasia of the skin ORPHA:3342
Bacterial Toxic-Shock Syndrome
Respiratory distress, Tachypnea, Ecchymosis ORPHA:36234
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Azoospermia, Calcification of the ao... ORPHA:2072
Congenital Enterovirus Infection
Respiratory distress ORPHA:292
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Communicating hydrocephalus, Umbilical hernia OMIM:618188
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Torticollis, Cryptorchidism, Oligozoospermia, Varicose veins OMIM:314300
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Prostatitis, Delayed puberty, Enteroviral ... OMIM:307200
Poems Syndrome
Weight loss, Acrocyanosis, Plethora ORPHA:2905
Pfeiffer Syndrome Type 3
Respiratory distress, Aqueductal stenosis ORPHA:93260
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea, Cyanosis ORPHA:2299
Idiopathic Hypereosinophilic Syndrome
Failure to thrive, Angioedema, Respiratory distress, Cutis marmorata, Vasculitis in the skin, Dys... ORPHA:3260
Gitelman Syndrome
Type II diabetes mellitus, Rhabdomyolysis, Parathyroid adenoma, Ventricular fibrillation, Prolong... ORPHA:358
Q Fever
Respiratory distress, Weight loss, Purpura ORPHA:781
Criss-Cross Heart
Cyanosis ORPHA:1461
Osteogenesis Imperfecta, Type X
Respiratory distress, Death in childhood OMIM:613848
Toxic Epidermal Necrolysis
Respiratory distress, Erythema, Weight loss ORPHA:537
Familial Cerebral Cavernous Malformation
Choroidal hemangioma, Meningioma, Neuroma, Venous malformation, Hemangioma, Cerebral hemorrhage ORPHA:221061
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Leukoencephalopathy OMIM:620369
Igg4-Related Kidney Disease
Pedal edema, Arteritis, Retroperitoneal fibrosis, Decreased liver function, Abnormal mesentery mo... ORPHA:449395
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Bruising susceptibility, Hydrocephalus ORPHA:536467
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Cerebral calcification, Hydrocephalus ORPHA:505248
Behcet Syndrome
Genital ulcers, Oral ulcer, Patchy alopecia, Raynaud phenomenon, Epididymitis OMIM:109650
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Congenital Tracheal Stenosis
Respiratory distress, Dyspnea, Cyanosis ORPHA:141127
Radio-Renal Syndrome
Respiratory distress, Dyspnea ORPHA:3015
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Thymoma, Type I diabetes mellitus, Aplasia/Hypoplasia of the spleen, Graves d... ORPHA:227982
Kasabach-Merritt Phenomenon
Respiratory distress, Purpura, Hypopnea, Petechiae ORPHA:2330
Ear-Patella-Short Stature Syndrome
Respiratory distress, Microcephaly, Dyspnea, Failure to thrive ORPHA:2554
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Occipital Horn Syndrome
High, narrow palate, Coarse hair, Hepatitis, Long philtrum, Cholestasis, Esophagitis, Venous insu... ORPHA:198
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Petechiae, Ecchymosis, Decreased body weight, Dyspnea ORPHA:340
Aicardi-Goutières Syndrome
Degeneration of the striatum, Cerebral calcification, Cutis marmorata, Hypoplasia of the corpus c... ORPHA:51
Campomelic Dysplasia
Spinal dysraphism, Failure to thrive, Respiratory distress, Apnea, Spina bifida, Hydrocephalus OMIM:114290
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Microcephaly, Decreased body weight OMIM:615273
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obesity, Cyanosis, Hypoventilation, Central hypoventilation ORPHA:293987
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Exertional dyspnea, Orthopnea, Failure to thrive ORPHA:365
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Thymoma, Type I diabetes mellitus, Aplasia/Hypoplasia of the spleen, Biliary ... ORPHA:227990
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Premature skin wrinkling, Cyanosis, Severe failure to thrive, We... ORPHA:740
Schinzel-Giedion Syndrome
Cerebral cortical atrophy, Umbilical hernia, Respiratory distress, Failure to thrive in infancy, ... ORPHA:798
Cocaine Intoxication
Respiratory distress, Hyperventilation, Tachypnea, Ischemic stroke ORPHA:90068
Goodpasture Syndrome
Tachypnea, Weight loss, Exertional dyspnea, Cyanosis OMIM:233450
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Periodontitis, Uterine rupture, Dilatation of the cerebral artery, A... OMIM:130050
Listeriosis
Respiratory distress, Jaundice, Miscarriage ORPHA:533
Diamond-Blackfan Anemia 10