Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
sulfatase 2
Synonyms:
2010004N24Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Sulf2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sulf2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyph... OMIM:277300
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Pulmonary Blastoma
Dyspnea, Pleuropulmonary blastoma, Cough, Weight loss, Recurrent pneumonia, Hemoptysis, Pulmonary... ORPHA:64741
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Symbrachydactyly Of Hands And Feet
Scoliosis, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the ... ORPHA:1570
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Short neck, Low back pain, Hemivertebrae, Vertebral fusion, Supe... OMIM:122600
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Abnormal metacarpal morphology, Synostosis of carpals/tarsals OMIM:269630
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system... ORPHA:70589
Odontoma-Dysphagia Syndrome
Dysphagia, Abnormal esophagus morphology OMIM:164330
Spondylocostal Dysostosis 4, Autosomal Recessive
Rib fusion, Vertebral segmentation defect, Hemivertebrae, Vertebral fusion, Abnormality of the od... OMIM:613686
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Absent phalangeal crease, Flexion contracture, Fused thoracic verte... OMIM:618469
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Premature Ovarian Failure 13
Oligomenorrhea OMIM:617442
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
Tracheopathia Osteoplastica
Recurrent pneumonia, Wheezing, Dyspnea, Cough, Hemoptysis OMIM:189961
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Short middle phalanx of finger, Fused cervical vertebrae, Thoracic hemivertebrae, Brac... ORPHA:1436
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Eosinophilic Esophagitis
Esophageal stenosis, Spontaneous esophageal perforation, Dysphagia, Gastroesophageal reflux, Abno... ORPHA:73247
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Short middle phalanx of finger, Aplasia/Hypoplasia of the distal... OMIM:113000
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Abnormal lung morphology, Recurrent upper respiratory tr... ORPHA:60032
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Ve... OMIM:609813
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae OMIM:616566
Acrodysplasia Scoliosis
Scoliosis, Brachydactyly, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Supernumerary ribs, Vertebral segmentation defect OMIM:221950
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation and fusion, Short ... ORPHA:66637
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress, Abnormal trachea morphology, Laryngomalacia OMIM:150280
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Fused cervical vertebrae, Prom... OMIM:309620
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Barrett Esophagus
Esophageal carcinoma, Esophageal ulceration, Gastroesophageal reflux, Barrett esophagus OMIM:614266
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive OMIM:615595
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distre... ORPHA:1302
Otopalatodigital Syndrome Type 1
Short hallux, Abnormality of the tarsal bones, Synostosis of carpal bones, Elbow dislocation, Bow... ORPHA:90650
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Bronchiolitis, Respiratory distress, Obesity OMIM:615993
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory distress, Respiratory insufficiency, Respiratory fail... OMIM:614399
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Respiratory distress, Failure to thrive OMIM:245590
Chronic Beryllium Disease
Abnormality on pulmonary function testing, Ground-glass opacification, Dyspnea, Pulmonary fibrosi... ORPHA:133
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Decreased pulmonary fu... ORPHA:60033
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Abnormal vertebr... ORPHA:2345
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Craniosynostosis, Tarsal synostosis, Arthrogryposis multiplex conge... OMIM:178110
Perching Syndrome
Respiratory distress, Depressed nasal bridge OMIM:617055
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Short nose, Respiratory distress, Respiratory failure, Intrauterine growth retardation, ... ORPHA:1832
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Limited elbow extension and supination, Abnormal vertebral segmen... OMIM:244600
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Laryngeal Web, Familial
Laryngeal web, Stridor, Respiratory distress, Recurrent upper respiratory tract infections OMIM:150360
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Cubitus valgus, Tarsal synostosis, Abnormality of the ankles, Synostosis... ORPHA:1836
Pulmonary Fibrosis, Idiopathic
Dyspnea, Exertional dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Cough, Elevated broncho... OMIM:178500
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Short long bone, Vertebral segmentation defect, Sacral dimple OMIM:618845
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular... OMIM:265120
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Verheij Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Clinodactyly, Hip dislocation, Short neck, Short 5th ... OMIM:615583
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Cough, Laryngotracheal stenosis, Weight loss, Upper airway obstruc... ORPHA:142
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Respiratory distress, Decreased body weight OMIM:300580
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Dyspnea, Respiratory distress, Parenchymal consolidation, Pleural effusion, Coug... ORPHA:36238
Fibrodysplasia Ossificans Progressiva
Short hallux, Scoliosis, Small cervical vertebral bodies, Short 1st metacarpal, Ectopic ossificat... OMIM:135100
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, ... OMIM:234810
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Hemivertebrae, Spina bifida occulta, Rib segmentation ab... OMIM:184400
Gaucher Disease Type 2
Cough, Recurrent respiratory infections, Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Stridor ORPHA:137935
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Broad toe, Short middle phalanx of... OMIM:263540
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Radial deviation of finger, Vertebral fusion, Clinodactyly, Syndac... OMIM:148050
Meconium Aspiration Syndrome
Wheezing, Abnormal pulmonary thoracic imaging finding, Respiratory distress, Pulmonary arterial h... ORPHA:70588
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Respiratory distress, Failure to thrive ORPHA:26792
Succinic Acidemia
Respiratory distress OMIM:600335
Asbestos Intoxication
Wheezing, Exertional dyspnea, Ground-glass opacification, Late inspiratory crackles, Pulmonary fi... ORPHA:2302
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Respiratory distress, Pulmo... OMIM:610978
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... ORPHA:178320
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Exertional dyspn... ORPHA:2032
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Congenital Laryngeal Web
Stridor, Respiratory distress, Laryngomalacia ORPHA:2374
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Failure to thrive in infancy,... ORPHA:254875
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Abnormal pu... OMIM:616414
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Postaxial hand polydactyly, Elbow dislocation, Abnormal form of the vertebral bodies, ... ORPHA:2916
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Dyspnea, Panacinar emphysema, Chronic bronchitis OMIM:613490
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Short neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion OMIM:214300
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Short finger, Flexion contracture, Thin ribs, Abnormal cervical curvature, Ver... OMIM:312150
Kbg Syndrome
Scoliosis, Finger clinodactyly, Thoracic kyphosis, Persistent open anterior fontanelle, Vertebral... ORPHA:2332
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophagitis, Eosinophilic microabscess formation in the esophagus, Esophageal stenosis, Esophagea... ORPHA:411696
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive ORPHA:91130
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Short 5th metacarpal, 3-4 finger cutaneous syndacty... ORPHA:370010
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Pulmonary hypoplasia, Small for gestational age, Respiratory dis... OMIM:616733
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Kniest Dysplasia
Joint stiffness, Delayed epiphyseal ossification, Short neck, Vertebral wedging, Flexion contract... ORPHA:485
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Short finger, Flexion contracture, Thin ribs, Abnormal cervical curvature, Ver... OMIM:253290
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Abnormality of limb bone morphology, Cervical C2/C3 vertebral fusion, Abnormal vertebr... OMIM:118100
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Ring Chromosome 21 Syndrome
Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae, Clinodactyly, Syndactyly, Small hand ORPHA:1445
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Respiratory ins... ORPHA:3348
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Thin ribs, Vertebral f... OMIM:271520
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Short 2nd metacarpal, Radioulnar synostosis, Elbow dislocation, Split hand, Short humerus, Should... OMIM:171480
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Bulbous nose, Wide nasal bridge, Failure to thrive, Intrauterine growth ret... ORPHA:261304
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent inner and outer... OMIM:606763
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Aplasia/Hypoplasia of... ORPHA:3320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:606612
Gorlin Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Arachnodactyly, Brachydactyly, Vertebral wedging ORPHA:377
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Thoracic kyphoscoliosis, 2-3 toe syndactyly, Lumbar hyperlordosis, Vertebral fusion, B... ORPHA:313892
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Abnormal pulmonary interstitial morphology, Bronchomalacia,... OMIM:617180
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Abnormal hip bone morphology, Abnormality of the ribs, Short neck, Fused... ORPHA:2522
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Stapes Ankylosis With Broad Thumbs And Toes
Broad thumb, Toe syndactyly, Short distal phalanx of finger, Proximal/middle symphalangism of 5th... OMIM:184460
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Cone-shaped epiphysis, Rib fusion, Short foot, Fused ... OMIM:157800
Aarskog-Scott Syndrome
Camptodactyly of finger, Short neck, Finger syndactyly, Genu recurvatum, Joint hyperflexibility, ... ORPHA:915
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Leukodystrophy, Hypomyelinating, 17
Anteverted nares, Respiratory distress OMIM:618006
Frontometaphyseal Dysplasia 1
Scoliosis, Genu valgum, Camptodactyly of finger, Anteriorly placed odontoid process, Fused cervic... OMIM:305620
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Stt3B-Cdg
Intrauterine growth retardation, Respiratory distress, Failure to thrive ORPHA:370924
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Pulmonar... ORPHA:70587
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Hyperlordosis, Limited elbow extension, Tarsal synostosis, Short neck, C2-C3 subluxati... OMIM:272460
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Idiopathic Neonatal Atrial Flutter
Tachypnea, Large for gestational age, Respiratory distress ORPHA:45452
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Choanal atresia, Wide nasal bridge, Respiratory failure, Recurrent... ORPHA:2759
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Alkaptonuria
Intervertebral disc degeneration, Low back pain, Kyphosis, Limited hip movement, Limitation of kn... OMIM:203500
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress OMIM:604377
Avian Influenza
Ground-glass opacification, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive... ORPHA:454836
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Laryngomalacia, Upper airwa... ORPHA:137914
Caudal Regression Sequence
Scoliosis, Abnormal iliac wing morphology, Joint stiffness, Missing ribs, Abnormal vertebral segm... ORPHA:3027
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... ORPHA:2414
Congenital Disorder Of Glycosylation, Type Ix
Intrauterine growth retardation, Respiratory distress, Failure to thrive OMIM:615597
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ventilator dependence with inability to wean, Respiratory failure requiring assisted ventilation,... ORPHA:254864
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Short femur, Short metatarsal, Short neck, Coronal cle... OMIM:108720
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Acetabular dysplas... OMIM:616549
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Cough, R... ORPHA:90060
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Failure to thrive OMIM:618426
Nipah Virus Disease
Recurrent pharyngitis, Cough, Respiratory distress ORPHA:99825
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:607155
Laryngotracheoesophageal Cleft
Dyspnea, Cough, Laryngeal cleft, Recurrent respiratory infections, Laryngomalacia, Neonatal respi... ORPHA:2004
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Rib fusion, Hemivertebrae, Vertebral fusion, Supernumerary ribs, Missing ri... OMIM:206900
Tularemia
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Pleural effusion, Cough, Pneumo... ORPHA:3392
Cryptosporidiosis
Respiratory tract infection, Wheezing, Respiratory distress, Cough, Weight loss, Respiratory fail... ORPHA:1549
Malaria
Respiratory distress ORPHA:673
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Respiratory distress, Short nose OMIM:615042
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Slc35A1-Cdg
Pulmonary hemorrhage, Hypoxemia, Respiratory distress, Pneumonia ORPHA:238459
Thyroid Lymphoma
Upper airway obstruction, Stridor, Dyspnea, Respiratory distress ORPHA:97285
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles... ORPHA:747
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Bifid distal phalanx of toe, Hypoplastic sacrum, Broad thumb, Short digit, Short neck,... OMIM:268310
Otopalatodigital Syndrome Type 2
Short hallux, Camptodactyly of finger, Scoliosis, Tarsal synostosis, Flared iliac wing, Synostosi... ORPHA:90652
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Basal Cell Nevus Syndrome
Scoliosis, Short 4th metacarpal, Irregular ossification of hand bones, Polydactyly, Down-sloping ... OMIM:109400
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Wolman Disease
Steatorrhea, Esophageal varix, Hepatomegaly, Cachexia, Splenomegaly ORPHA:75233
Brown-Vialetto-Van Laere Syndrome 1
Dyspnea, Respiratory distress, Respiratory insufficiency, Stridor, Recurrent respiratory infectio... OMIM:211530
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Rib fusion, Hemivertebrae, Vertebral fusion, 11 pairs of ribs, Short neck ORPHA:94095
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Abnormal pleu... ORPHA:210136
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Failure to thrive, Depressed nasal bridge OMIM:608799
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Esophageal varix, Weight loss, Hepatom... ORPHA:131
Lamb-Shaffer Syndrome
Hip dysplasia, Scoliosis, Thoracic kyphosis, Fused cervical vertebrae ORPHA:530983
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Dyspnea, Pulmonary capillary hemangiomatosis, Elevated pulmonary arte... ORPHA:199241
Agnathia-Otocephaly Complex
Hypoplasia of the epiglottis, Respiratory distress, Tracheomalacia, Laryngeal hypoplasia OMIM:202650
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Respiratory distress, Wide nose, Wide nasal bridge ORPHA:89844
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Broad ribs, Flaring of rib cage, Osteopenia, Fused cervical vertebrae... OMIM:612852
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Respiratory distress, Umbilical hernia, Depressed nasal bridge ORPHA:226313
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Rocker bottom foot, Dislocated radial head, Arthrogryposis multiplex congenita, Anteri... OMIM:265000
Holocarboxylase Synthetase Deficiency
Tachypnea, Respiratory distress, Weight loss ORPHA:79242
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cough, Dyspnea, Respiratory distress ORPHA:86812
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive ORPHA:79312
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Short nose, Aspiration pneumonia, Recurrent pneumon... ORPHA:314655
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Acro-Renal-Ocular Syndrome
Short hallux, Radial club hand, Preaxial hand polydactyly, Abnormal thumb morphology, Toe syndact... ORPHA:959
Lateral Meningocele Syndrome
Scoliosis, Joint hypermobility, Wormian bones, Biconcave vertebral bodies, Kyphosis, Vertebral fu... OMIM:130720
Mosaic Trisomy 20
Scoliosis, Down-sloping shoulders, Kyphosis, Vertebral segmentation defect, Vertebral fusion, Cli... ORPHA:1724
Odontochondrodysplasia
Short nose, Respiratory distress, Depressed nasal bridge ORPHA:166272
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx... ORPHA:1826
Cirrhosis, Familial
Esophageal varix OMIM:215600
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Short nose, Respiratory distress, Failure to thrive, Narrow nasal bridge ORPHA:544503
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Respiratory failure, Respiratory distress, Depressed nasal bridge OMIM:617895
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Cholesteryl Ester Storage Disease
Hepatomegaly, Esophageal varix, Splenomegaly ORPHA:75234
Koolen-De Vries Syndrome
Scoliosis, Joint hyperflexibility, Kyphosis, Vertebral fusion, Hip dislocation, Arachnodactyly, V... ORPHA:96169
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Wide nasal bridge, Depressed nasal bridge OMIM:617102
Hypoglossia With Situs Inversus
Upper airway obstruction, Respiratory distress OMIM:612776
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Short nose, Recurrent respiratory infections, Respiratory distress, Failure to thrive ORPHA:329178
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory tract infection, Respiratory distress, Respiratory failure requiring assisted ventila... ORPHA:308552
Diaphanospondylodysostosis
Respiratory distress, Short nose, Tracheomalacia, Respiratory insufficiency, Pulmonary hypoplasia... OMIM:608022
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Respiratory distress ORPHA:98805
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive ORPHA:927
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory failure, Respiratory distress, Failure to thrive ORPHA:2707
Esophageal Atresia
Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Microlissencephaly-Micromelia Syndrome
Short nose, Respiratory distress, Failure to thrive ORPHA:50810
Myhre Syndrome
Platyspondyly, Broad ribs, Overlapping toe, Camptodactyly, 2-3 toe syndactyly, Hypoplastic iliac ... OMIM:139210
Tetrasomy 5P
Respiratory distress, Short nose, Wide nasal bridge, Pulmonary hypoplasia, Failure to thrive, Pul... ORPHA:3309
Mercury Poisoning
Dyspnea, Respiratory failure, Respiratory distress, Interstitial pneumonitis ORPHA:330021
Lymphatic Malformation 7
Pulmonary edema, Respiratory distress OMIM:617300
Congenital Tracheal Stenosis
Abnormal lung lobation, Wheezing, Dyspnea, Respiratory distress, Abnormal lung morphology, Anomal... ORPHA:141127
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Pulmonary hypoplasia, Respiratory distress, Depressed nasal bridge OMIM:231680
Brain-Lung-Thyroid Syndrome
Respiratory distress, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, Neonatal re... ORPHA:209905
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Short nose, Laryngeal hypoplasia, Abnormality of the larynx, Tracheomalacia... OMIM:217980
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Genu varum, Patellar ap... OMIM:274000
Synaptic Congenital Myasthenic Syndromes
Sleep apnea, Hypoventilation, Respiratory distress, Exertional dyspnea, Respiratory insufficiency... ORPHA:98915
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Respiratory distress, Episodic tachypnea, Pneumonia, Small for gestational age, Tachy... ORPHA:26793
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory distress OMIM:184260
Farber Disease
Respiratory distress, Recurrent upper respiratory tract infections, Abnormal larynx morphology, R... ORPHA:333
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Respiratory distress ORPHA:464453
Koolen-De Vries Syndrome
Hip dysplasia, Joint hypermobility, Scoliosis, Kyphosis, Sacral dimple, Spondylolisthesis, Verteb... OMIM:610443
Hereditary Angioedema Type 1
Dyspnea, Abnormal respiratory system morphology, Respiratory distress, Inspiratory stridor, Phary... ORPHA:100050
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Respiratory distress, Failure to thrive OMIM:619272
Retinitis Pigmentosa 89
Hepatosplenomegaly, Esophageal varix OMIM:618955
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Tetanus
Tachypnea, Respiratory distress, Laryngospasm ORPHA:3299
Gaucher Disease, Perinatal Lethal
Apnea, Respiratory distress, Short nose, Decreased body weight, Intrauterine growth retardation, ... OMIM:608013
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Non-Syndromic Posterior Hypospadias
Anal atresia, Small for gestational age, Esophageal atresia, Cleft palate ORPHA:95706
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Neonatal death, Pulmonary hypoplasia, Respiratory failure, Intrauterine gro... OMIM:266910
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory insufficiency due to muscle weakness, Respiratory distress, Failure to thrive, Exerti... OMIM:220110
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Morphological abnormality of the gastrointestinal tract, Esophageal stenosis, Dysphagia, Gastroes... ORPHA:1018
Glycogen Storage Disease Iv
Hepatosplenomegaly, Esophageal varix, Failure to thrive OMIM:232500
Kniest Dysplasia
Tracheomalacia, Respiratory distress, Umbilical hernia, Depressed nasal bridge OMIM:156550
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Short 1st metacarpal, Short thumb, Absent thumb, Short neck, Fused cerv... OMIM:609053
Interstitial Lung And Liver Disease
Intraalveolar phospholipid accumulation, Dyspnea, Cough, Respiratory insufficiency, Abnormal pulm... OMIM:615486
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Intermittent hyper... ORPHA:348
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Camptodactyly, Down-sloping shoulders, Vertebral fusion, Metatarsus ... OMIM:227330
Nocardiosis
Abnormal sputum, Dyspnea, Respiratory distress, Pleuritis, Pleural effusion, Emphysema, Nonproduc... ORPHA:31204
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Respiratory failure, Chylothorax, Depressed nasa... ORPHA:3015
Moebius Syndrome
Abnormal nasopharynx morphology, Respiratory distress, Depressed nasal bridge OMIM:157900
Isolated Arrhinia
Absent nasal septal cartilage, Aplasia/Hypoplasia of the nasal septum, Hypoplasia of the nasal bo... ORPHA:1134
Aicardi Syndrome
Hip dysplasia, Scoliosis, Rib fusion, Small hand, Block vertebrae, Supernumerary ribs, Missing ri... ORPHA:50
Congenital Myasthenic Syndrome
Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Apneic episodes precip... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Apneic episodes precip... ORPHA:98914
Infantile Krabbe Disease
Respiratory distress, Laryngomalacia, Respiratory failure, Cachexia, Failure to thrive ORPHA:206436
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Leigh Syndrome With Cardiomyopathy
Apnea, Respiratory distress, Central hypoventilation, Respiratory failure, Failure to thrive ORPHA:70474
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Broad thumb, Thoracic kyphosis, Hypermobility of interphalangeal joints, ... ORPHA:508498
Duane Retraction Syndrome
Hypoplasia of the radius, Preaxial hand polydactyly, Short neck, Abnormal form of the vertebral b... ORPHA:233
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Short nose, Respiratory distress, Wide nasal bridge, Anteverted nares, Recurrent respiratory infe... OMIM:619383
Campomelic Dysplasia
Apnea, Respiratory distress, Tracheobronchomalacia, Failure to thrive, Depressed nasal bridge OMIM:114290
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
Aicardi Syndrome
Scoliosis, Rib fusion, Hemivertebrae, Block vertebrae, Proximal placement of thumb, Supernumerary... OMIM:304050
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Failure to thrive, Respiratory insufficiency ORPHA:367
Spinocerebellar Ataxia, X-Linked 3
Episodic hypoventilation, Episodic respiratory distress, Recurrent respiratory infections OMIM:301790
Duane-Radial Ray Syndrome
Scoliosis, Hypoplasia of the radius, Preaxial polydactyly, Hypoplasia of the ulna, Short humerus,... OMIM:607323
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Esophageal varix, Gastrointestinal hemorrhage OMIM:617341
Simpson-Golabi-Behmel Syndrome
Scoliosis, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Broad thumb, Congenita... ORPHA:373
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Esophageal stricture, Dysphagia, Abnormal esophagus morphology, Spontaneous esophageal perforation OMIM:226600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory distress, Bulbous nose, Respiratory insufficiency, Respiratory failure OMIM:608836
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent bronchopulmonary infections, Wide nasal bridge, Recurrent pneumon... OMIM:617303
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Pfeiffer Syndrome Type 2
Short nose, Respiratory distress, Choanal atresia, Tracheomalacia, Laryngomalacia, Depressed nasa... ORPHA:93259
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Crackles, Pulmonary venous hypertension, Intercosta... ORPHA:1329
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia involving the nose, Respiratory distress ORPHA:990
Toxic Epidermal Necrolysis
Restrictive ventilatory defect, Respiratory distress, Abnormal pleura morphology, Cough, Recurren... ORPHA:537
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Failure to thrive OMIM:251110
Rodrigues Blindness
Nasal flaring, Narrow nasal bridge OMIM:268320
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Sleep apnea, Respiratory distress, Exertional dyspnea, Orthopnea, Re... ORPHA:365
Noonan Syndrome 7
Dysphagia, Large for gestational age, Abnormal esophagus morphology, Impaired oropharyngeal swall... OMIM:613706
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Bulbous nose, Choanal atresia, Wide nasal bridge, Prominent nose, Recurrent... OMIM:300968
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Ankyloglossia, Esophageal stenosis, Dysphagia, Gastroesophageal reflux, Abnormal esophagus morpho... ORPHA:89842
Scimitar Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Abnormal lung morphology, Respiratory... ORPHA:185
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Failure to thrive OMIM:251100
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Choanal atresia, Respiratory distress, Anteverted nares OMIM:610536
Ramos-Arroyo Syndrome
Respiratory distress, Decreased body weight, Severe failure to thrive, Anteverted nares, Depresse... ORPHA:1051
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Underdeveloped nasal alae, Wide nasal bridge, Broad nasal tip, Anteverted n... ORPHA:438216
Pfeiffer Syndrome Type 3
Short nose, Respiratory distress, Choanal atresia, Tracheomalacia, Laryngomalacia, Depressed nasa... ORPHA:93260
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Shwachman-Diamond Syndrome 1
Neonatal respiratory distress, Small for gestational age, Respiratory distress, Failure to thrive OMIM:260400
Wolf-Hirschhorn Syndrome
Hip dysplasia, Short hallux, Scoliosis, Preaxial hand polydactyly, Radioulnar synostosis, Abnorma... OMIM:194190
Cocaine Intoxication
Wheezing, Respiratory distress, Cough, Diffuse alveolar hemorrhage, Pulmonary edema, Hemoptysis, ... ORPHA:90068
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Choanal atresia, Umbilical hernia, Anteverted nares, Depressed nasal bridge ORPHA:1555
Congenital Enterovirus Infection
Pleural effusion, Respiratory distress ORPHA:292
Bacterial Toxic-Shock Syndrome
Respiratory tract infection, Respiratory distress, Pneumonia, Sinusitis, Tachypnea, Pharyngitis ORPHA:36234
Q Fever
Respiratory distress, Pleural effusion, Cough, Pneumonia, Weight loss, Abnormal pulmonary interst... ORPHA:781
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo... OMIM:615343
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Robinow Syndrome
Scoliosis, Radioulnar dislocation, Rib fusion, Fused thoracic vertebrae, Short distal phalanx of ... ORPHA:97360
Sepsis In Premature Infants
Abnormal mucociliary clearance, Dyspnea, Decreased pulmonary function, Decreased body weight, Sma... ORPHA:90051
Lysosomal Acid Lipase Deficiency
Esophageal varix, Steatorrhea, Hepatomegaly, Failure to thrive, Splenomegaly, Hepatosplenomegaly OMIM:278000
Caroli Disease, Isolated
Hepatomegaly, Esophageal varix OMIM:600643
Arnold-Chiari Malformation Type I
Scoliosis, Anteriorly placed odontoid process, Cervical C2/C3 vertebral fusion, Stiff neck, Fused... ORPHA:268882
Pachyonychia Congenita
Respiratory distress, Failure to thrive ORPHA:2309
Cryptococcosis
Dyspnea, Respiratory distress, Pleural effusion, Cough, Pneumonia, Nodular pattern on pulmonary HRCT ORPHA:1546
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Biotinidase Deficiency
Laryngeal stridor, Apnea, Respiratory distress, Hyperventilation ORPHA:79241
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae OMIM:619227
Apert Syndrome
Humeroradial synostosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Synostosis of car... OMIM:101200
Plummer-Vinson Syndrome
Dysphagia, Esophageal web, Glossitis, Tongue atrophy ORPHA:54028
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Esophageal varix, Hepatomegaly, Failure to thrive, Splenomegaly OMIM:614576
Beare-Stevenson Cutis Gyrata Syndrome
Choanal atresia, Respiratory distress, Anteverted nares, Depressed nasal bridge OMIM:123790
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Respiratory distress ORPHA:2519
Osteoglophonic Dysplasia
Abnormal nasopharynx morphology, Respiratory distress, Short nose, Failure to thrive, Anteverted ... OMIM:166250
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Short nose, Obesity, Prominent nose, Broad nasal tip, Intrauterine growth r... ORPHA:177907
Bronchogenic Cyst
Dysphagia, Abnormal stomach morphology, Abnormal esophagus morphology ORPHA:2357
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Interstitial pneumonitis, Pneumonia, Failure to thrive in infancy, Cachexia... ORPHA:37042
Idiopathic Hypereosinophilic Syndrome
Dyspnea, Respiratory distress, Pulmonary fibrosis, Pleural effusion, Cough, Pulmonary embolism, A... ORPHA:3260
Dyskeratosis Congenita, Autosomal Dominant 6
Oral leukoplakia, Esophageal stenosis OMIM:616553
Congenital Disorder Of Deglycosylation
Central sleep apnea, Respiratory distress, Decreased body weight, Anteverted nares, Recurrent res... OMIM:615273
Charcot-Marie-Tooth Disease Type 4C
Hip dysplasia, Abnormality of the vertebral column, Vertebral fusion, Hammertoe, Thoracic scolios... ORPHA:99949
Diamond-Blackfan Anemia 10
Choanal atresia, Respiratory distress OMIM:613309
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Japanese Encephalitis
Respiratory distress, Irregular respiration, Respiratory paralysis, Pulmonary edema, Abnormal pat... ORPHA:79139
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Respiratory distress, Short nose, Tracheomalacia, Respiratory ins... ORPHA:536467
Arterial Tortuosity Syndrome
Dyspnea, Cardiorespiratory arrest, Respiratory distress, Short nose, Respiratory failure, Pulmona... ORPHA:3342
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short nose, Respiratory distress, Pulmonary arterial hypertension, Stridor, Airway obstruction, R... ORPHA:505248
Apert Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Cervical C5/C6 v... ORPHA:87
Auriculocondylar Syndrome
Obstructive sleep apnea, Respiratory distress, Snoring ORPHA:137888
Adams-Oliver Syndrome 6
Esophageal varix OMIM:616589
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress OMIM:183900
Alternating Hemiplegia Of Childhood
Apnea, Respiratory distress, Failure to thrive, Aspiration ORPHA:2131
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae ORPHA:1780
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary arterial hypertension, Pulmonary embolism, Failure to thrive, Int... ORPHA:79282
Ear-Patella-Short Stature Syndrome
Dyspnea, Respiratory distress, Respiratory failure, Failure to thrive, Intrauterine growth retard... ORPHA:2554
Meier-Gorlin Syndrome 1
Intrauterine growth retardation, Small for gestational age, Respiratory distress, Failure to thrive OMIM:224690
Severe Generalized Junctional Epidermolysis Bullosa
Dyspnea, Respiratory distress, Pneumonia, Laryngeal stenosis, Respiratory failure, Abnormality of... ORPHA:79404
Systemic Sclerosis
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Dysp... ORPHA:90291
Adnp Syndrome
Respiratory distress, Recurrent upper respiratory tract infections, Umbilical hernia, Truncal obe... ORPHA:404448
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Tracheoesophageal fistula, Respiratory distress ORPHA:210122
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Episodic respiratory distress, Dyspnea, Failure to thrive, Hyperventilation ORPHA:255210
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Frontometaphyseal Dysplasia 2
Scoliosis, Dislocated radial head, Short metatarsal, Congenital hip dislocation, Finger clinodact... OMIM:617137
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Splenomegaly, Esophageal varix, Enlarged kidney OMIM:263200
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Apnea, Recurrent respiratory infections, Respiratory distress, Failure to thrive ORPHA:17
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Hepatocellular carcinoma, Esophageal varix, Hepatomegaly, Failure to thri... ORPHA:370
Coccidioidomycosis
Respiratory distress, Parenchymal consolidation, Cough, Exudative pleural effusion, Pneumonia, Pl... ORPHA:228123
Benign Schwannoma
Abnormal parotid gland morphology, Abnormal esophagus morphology, Intestinal polyposis ORPHA:252164
Hemifacial Microsomia
Vertebral hypoplasia, Block vertebrae, Hemivertebrae OMIM:164210
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Esophageal varix, Hepatomegaly, Increased body weight, Failure to thrive,... ORPHA:264580
Ethylene Glycol Poisoning
Tachypnea, Episodic respiratory distress, Pulmonary edema, Abnormal pattern of respiration ORPHA:31826
Aspergillosis
Abnormal esophagus morphology ORPHA:1163
Schinzel-Giedion Syndrome
Respiratory distress, Broad nasal tip, Short nose, Failure to thrive in infancy, Umbilical hernia... ORPHA:798
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Short nose, Respiratory distress, Underdeveloped nasal alae, Rhinitis, Depressed nasal bridge OMIM:305100
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Underdeveloped nasal alae, Wide nasal bridge, Pulmonary hypoplasia, Failure... ORPHA:83617
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bulbous nose, Wide nasal bridge, Obesity, Nasal flaring, Asthma, Broad nasal tip, Depressed nasal... ORPHA:466943
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Esophageal varix, Failure to thrive ORPHA:974
Cleidocranial Dysplasia
Respiratory distress, Hypoplastic frontal sinuses, Neonatal respiratory distress, Absent frontal ... OMIM:119600
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Respiratory distress, Abnormal pulmonary interstitial morphology, Neonatal respiratory distress, ... OMIM:614748
Colchicine Poisoning
Cardiorespiratory arrest, Respiratory distress ORPHA:31824
Caroli Disease
Esophageal varix, Weight loss, Hepatomegaly, Cholangiocarcinoma, Splenomegaly ORPHA:53035
Microphthalmia With Linear Skin Defects Syndrome
Dyspnea, Respiratory distress, Wide nasal bridge, Respiratory failure, Failure to thrive, Wide nose ORPHA:2556
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Respiratory distress, Exertional dyspnea, Re... ORPHA:99125
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Broad nasal tip, Intrauterine growth retarda... OMIM:616268
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Umbilical hernia, Small for gestational age, Failure to thrive, Pulmonary a... ORPHA:2255
Wilson Disease
Hepatomegaly, Dysphagia, Hepatocellular carcinoma, Esophageal varix OMIM:277900
Craniorachischisis
Bifid sternum ORPHA:63260
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Failure to thrive OMIM:306955
Coach Syndrome 1
Hepatomegaly, Esophageal varix, Splenomegaly OMIM:216360
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Esophageal varix, Splenomegaly OMIM:616028
Tuberous Sclerosis Complex
Respiratory tract infection, Respiratory distress, Respiratory failure, Hemoptysis, Pulmonary lym... ORPHA:805
Listeriosis
Respiratory failure, Pneumonia, Respiratory distress ORPHA:533
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Depressed nasal bridge OMIM:617088
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Abnormality of t... ORPHA:95455
Coffin-Lowry Syndrome
Scoliosis, Delayed closure of the anterior fontanelle, Drumstick terminal phalanges, Delayed skel... OMIM:303600
Stüve-Wiedemann Syndrome
Intrauterine growth retardation, Apnea, Asthma, Respiratory distress ORPHA:3206
Leptospirosis
Pulmonary hemorrhage, Respiratory distress, Pleural effusion, Cough, Hemoptysis, Pharyngitis ORPHA:509
Ulbright-Hodes Syndrome
Respiratory distress, Severe intrauterine growth retardation, Pulmonary hypoplasia, Respiratory f... ORPHA:3404
Gitelman Syndrome
Respiratory distress, Failure to thrive ORPHA:358
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Hip subluxation, Abnormal vertebral morphology, Cervical C2/C3 vertebral fusion, F... ORPHA:444077
Doors Syndrome
Respiratory distress, Bulbous nose, Sirenomelia, Wide nasal bridge, Aspiration pneumonia, Spina b... ORPHA:79500
Rubinstein-Taybi Syndrome 1
Respiratory distress, Recurrent upper respiratory tract infections, Wide nasal bridge, Laryngomal... OMIM:180849
Lysosomal Acid Lipase Deficiency
Steatorrhea, Weight loss, Esophageal varix, Cachexia, Failure to thrive, Hepatosplenomegaly ORPHA:275761
Chronic Graft Versus Host Disease
Dysphagia, Gastroesophageal reflux, Abnormal esophagus morphology, Esophageal stricture, Weight l... ORPHA:99921
Eisenmenger Syndrome
Wheezing, Respiratory distress, Exertional dyspnea, Increased pulmonary vascular resistance, Aort... ORPHA:97214
Dyskeratosis Congenita
Oral leukoplakia, Esophageal stenosis, Hepatomegaly, Splenomegaly, Anorectal anomaly, Malabsorpti... ORPHA:1775
Kasabach-Merritt Syndrome
Hypopnea, Respiratory distress ORPHA:2330
Classic Homocystinuria
Hepatomegaly, High palate, Esophageal varix, Gastrointestinal hemorrhage ORPHA:394
Kindler Syndrome
Oral leukoplakia, Dysphagia, Esophageal stenosis, Anal stenosis OMIM:173650
Progeroid Short Stature With Pigmented Nevi
Esophageal ulceration, Small for gestational age OMIM:176690
Plague
Acute infectious pneumonia, Respiratory distress, Pharyngitis, Hemoptysis ORPHA:707
Hereditary Hemorrhagic Telangiectasia
Esophageal varix, Intestinal polyposis, Gastrointestinal hemorrhage ORPHA:774
8Q24.3 Microdeletion Syndrome
Respiratory distress, Branchial cyst, Wide nasal bridge, Small for gestational age, Spina bifida ... ORPHA:508488
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Enlarged kidney, Esophageal varix, Protein-losing enteropathy, Chola... ORPHA:731
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Recurrent upper and lower respiratory tract infections, Choanal atresia, Wi... ORPHA:480880
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Esophageal varix, Splenomegaly ORPHA:309854
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Esophageal diverticulum, Anal atresia, Hamartoma of tongue, Cleft palate OMIM:617925
Caroli Syndrome
Hematemesis, Esophageal varix, Melena, Hepatomegaly, Cholangiocarcinoma ORPHA:480520
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Abnormality of the knee, Abnormal hip joint morphology, Hypo... ORPHA:51608
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Hepatosplenomegaly, Esophageal varix, Splenomegaly OMIM:615688
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Gastric ulcer, Esophageal varix, Cachexia, Splenomegaly, Hepatosplenomegaly ORPHA:2072
Hepatocellular Carcinoma
Hepatomegaly, Esophageal varix, Abnormal rectum morphology, Weight loss ORPHA:88673
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Ankyloglossia, Gastrointestinal inflammation, Dysphagia, Gastroesophageal reflux, Esophageal ulce... ORPHA:79408
Pmm2-Cdg
Respiratory distress, Aspiration pneumonia, Failure to thrive, Prominent nasal bridge, Anteverted... ORPHA:79318
Alström Syndrome
Restrictive ventilatory defect, Chronic pulmonary obstruction, Respiratory distress, Recurrent up... ORPHA:64

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 Sulf2

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 Sulf2.

No publications found that use IMPC mice or data for Sulf2.

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MGI Allele Allele Type Produced
Sulf2em1(IMPC)Ccpcz Exon Deletion Mice
Sulf2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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