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
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... ORPHA:2064
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Multiple Synostoses Syndrome 2
Carpal synostosis, Vertebral fusion, Brachydactyly, Proximal symphalangism, Tarsal synostosis, Hu... OMIM:610017
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Second Metatarsal-Metacarpal Syndrome
Abnormal metacarpal morphology, Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Posterior rib fusion, Low back pain, M... OMIM:122600
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... OMIM:613686
Odontoma-Dysphagia Syndrome
Dysphagia, Abnormal esophagus morphology OMIM:164330
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Pulmonary Blastoma
Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea, Weight loss ORPHA:64741
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss ORPHA:141152
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Small for gestational age, Abnormal r... ORPHA:70589
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... OMIM:618469
Oocyte Maturation Defect 11
Female infertility OMIM:619643
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
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... ORPHA:1436
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Failure to thrive, Desquamative interstitial pneumonitis, Recurrent upper r... OMIM:263000
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... OMIM:113000
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,... ORPHA:1570
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Pleural Mesothelioma
Respiratory distress, Abnormal respiratory system physiology, Abnormal pleura morphology, Cough, ... ORPHA:50251
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Rib fusion... OMIM:609813
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossified vertebral bo... ORPHA:66637
Acrodysplasia Scoliosis
Vertebral segmentation defect, Brachydactyly, Scoliosis, Spina bifida occulta ORPHA:2956
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Tracheopathia Osteoplastica
Dyspnea, Wheezing, Recurrent pneumonia, Cough OMIM:189961
Immunodeficiency 95
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... OMIM:619773
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Pneumonia OMIM:254120
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Recurrent Respiratory Papillomatosis
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Recurrent upper res... ORPHA:60032
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Tho... OMIM:309620
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Resp... ORPHA:264675
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive OMIM:615595
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus OMIM:109350
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
Bardet-Biedl Syndrome 16
Bronchiolitis, Obesity, Respiratory distress, Recurrent respiratory infections OMIM:615993
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Airway obstruction, Reduced FEV1/FVC ratio, Bronc... ORPHA:1303
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Abnormality of the v... ORPHA:2345
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Barrett Esophagus
Esophageal ulceration, Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus OMIM:614266
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... OMIM:178110
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Neonatal respiratory distress, Dyspnea OMIM:267450
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Vertebral fusion, Short long bone, Sacral dimple OMIM:618845
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... OMIM:244600
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... ORPHA:1302
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower... ORPHA:60033
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... ORPHA:1836
Interstitial Lung Disease 2
Alveolar cell carcinoma, Cough, Decreased DLCO, Usual interstitial pneumonia, Dyspnea, Exertional... OMIM:178500
Stuve-Wiedemann Syndrome 2
Respiratory distress, Stillbirth, Neonatal death, Pulmonary arterial hypertension, Intrauterine g... OMIM:619751
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Chronic Pneumonitis Of Infancy
Respiratory distress, Failure to thrive, Cough, Tachypnea, Intercostal retractions, Reduced force... ORPHA:91359
Verheij Syndrome
Hemivertebrae, Short neck, Scoliosis, Short 5th finger, Clinodactyly, Hip dislocation, Vertebral ... OMIM:615583
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Cough, Decreased DLCO, Intralobular septal thickening, ... OMIM:619611
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Abnormal mucociliary clearance, Respiratory distress, Recurrent respiratory infec... OMIM:619466
Laryngotracheal Angioma
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight, Respiratory insufficiency due to muscle weakness OMIM:300580
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... OMIM:135100
Sprengel Deformity
Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, Rib segmentation ab... OMIM:184400
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Intrauterine growth retardation, Respiratory failure ORPHA:1832
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Platyspondyly, Short neck, Biconcave vertebral bodies, Upper limb ... ORPHA:93315
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Failure to thrive, Apnea, Desquamative interstitial pneumonitis, ... OMIM:265120
Perching Syndrome
Respiratory distress OMIM:617055
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Recurrent respiratory infections, Cough ORPHA:77260
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Esophageal varix, Splenomegaly OMIM:617068
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Kyphoscoliosis, Hypoplastic vertebral bodies, Clinodactyly of the 5th fing... OMIM:263540
Laryngeal Web, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Stridor OMIM:150360
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Failure to thrive, Respiratory insufficiency, Restrictive ventilatory defec... OMIM:614399
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Ret... ORPHA:133
Succinic Acidemia
Respiratory distress OMIM:600335
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... ORPHA:922
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Platyspondyly, Short neck, Dumbbell-shaped long b... ORPHA:485
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Hemivertebrae, Scoliosis,... ORPHA:2916
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Failure to thrive, Intrauterine growth retardation ORPHA:26792
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Short neck, Scoliosis OMIM:214300
Kbg Syndrome
Vertebral fusion, Cutaneous syndactyly, Short neck, Scoliosis, Finger clinodactyly, Thoracic kyph... ORPHA:2332
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... OMIM:234810
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... ORPHA:370010
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary ... OMIM:616414
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervical curvature... OMIM:312150
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Failure to thrive, Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux,... ORPHA:411696
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Short neck, Scoliosi... OMIM:118100
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive ORPHA:91130
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia, Intrauterine growth retardation, Small for gestationa... OMIM:616733
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Joint stiffness, Broad metacarpals, Short metatarsal, Genu recur... OMIM:151200
Anaplastic Thyroid Carcinoma
Respiratory distress, Neoplasm of the lung, Cough, Upper airway obstruction, Dyspnea, Weight loss... ORPHA:142
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervical curvature... OMIM:253290
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Absent radius, Short humerus, Shoulde... OMIM:171480
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Small hand, Scoliosis, Syndactyly, Clinodactyly, Thoracic hemivertebrae ORPHA:1445
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Weight loss, Cachexia OMIM:612075
Acute Lung Injury
Respiratory distress, Abnormal pulmonary interstitial morphology, Tachypnea, Pneumonia, Hypoxemia... ORPHA:178320
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... OMIM:271520
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Pleural empyema, Acute infectious pneumonia... ORPHA:36238
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, Thoracic kyphoscoliosis... ORPHA:313892
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Cystic pattern on pulmo... OMIM:610978
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:606612
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... ORPHA:3320
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Cachexia, Abnormality of the gastrointestinal ... ORPHA:1876
Gorlin Syndrome
Arachnodactyly, Hemivertebrae, Vertebral fusion, Scoliosis, Brachydactyly, Vertebral wedging ORPHA:377
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Cough, Wheezing, Bronchie... OMIM:613490
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Broad hallux, Fused cervical vertebrae, Broad thumb, Proximal/mid... OMIM:184460
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... ORPHA:70588
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal hip bone morphology, Short neck, Hyperlordosis, Abnormal rib morphology, Fused... ORPHA:2522
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Asbestos Intoxication
Interlobular septal thickening, Lung adenocarcinoma, Oxygen desaturation on exertion, Reduced vit... ORPHA:2302
Aarskog-Scott Syndrome
Clinodactyly of the 5th finger, Genu recurvatum, Abnormal vertebral segmentation and fusion, Smal... ORPHA:915
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Partial fusion of tarsals, Genu valgu... OMIM:305620
Stt3B-Cdg
Respiratory distress, Failure to thrive, Intrauterine growth retardation ORPHA:370924
Spondylocarpotarsal Synostosis Syndrome
Vertebral segmentation defect, Carpal synostosis, Epiphyseal dysplasia, Clinodactyly of the 5th f... OMIM:272460
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive, Intrauterine growth retardation OMIM:615597
Pneumocystosis
Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Interstitial pneumonitis, Respiratory i... ORPHA:723
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Alkaptonuria
Kyphosis, Intervertebral disc degeneration, Arthritis, Limitation of knee mobility, Low back pain... OMIM:203500
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cough, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Respiratory distress, Tachypnea ORPHA:45452
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Tachypnea, Respiratory tract infection, Pneumonia, Hypoxemia, Respiratory failur... ORPHA:70587
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent re... OMIM:606763
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive, Intrauterine growth retardation ORPHA:261304
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Abnormal vertebral... ORPHA:3027
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... ORPHA:596
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress OMIM:604377
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Cough ORPHA:99825
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection OMIM:620011
Surfactant Metabolism Dysfunction, Pulmonary, 5
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... OMIM:614370
Malaria
Respiratory distress ORPHA:673
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Short neck, Thoracolumbar scoliosis, Acetab... OMIM:616549
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:607155
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Failure to thrive OMIM:618426
Slc35A1-Cdg
Respiratory distress, Pulmonary hemorrhage, Hypoxemia, Pneumonia ORPHA:238459
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... ORPHA:95430
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Short neck, Duplication of the dista... OMIM:268310
Avian Influenza
Respiratory distress, Hypoxemia, Nonproductive cough, Tachypnea, Cough, Productive cough, Pleural... ORPHA:454836
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... OMIM:618000
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertension, Pleural e... OMIM:612387
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Pulmonary Alveolar Proteinosis, Acquired
Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restrictive ventilator... OMIM:610910
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Down-sloping shoulders, Ulnar deviation of finger, Rocke... OMIM:265000
Wolman Disease
Hepatomegaly, Steatorrhea, Splenomegaly, Cachexia, Esophageal varix ORPHA:75233
Budd-Chiari Syndrome
Malabsorption, Hepatomegaly, Splenomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, E... ORPHA:131
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections ORPHA:2759
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Basal Cell Nevus Syndrome
Bifid ribs, Kyphoscoliosis, Short distal phalanx of the thumb, Supernumerary ribs, Short ribs, He... OMIM:109400
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Otopalatodigital Syndrome Type 2
Carpal synostosis, Increased bone mineral density, Flared iliac wing, Abnormal vertebral segmenta... ORPHA:90652
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Clubbing, Multinucleated giant chon... OMIM:108720
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory insufficiency, Nocturnal hypoventilation, Dyspnea, Stridor, Rec... OMIM:211530
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis, Broad ribs, Flar... OMIM:612852
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Thoracic kyphosis, Hip dysplasia, Scoliosis ORPHA:530983
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress OMIM:615042
Kbg Syndrome
Rib fusion, Clinodactyly of the 5th finger, Ulnar deviation of the 2nd finger, Vertebral fusion, ... OMIM:148050
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Choanal Atresia
Respiratory distress, Tracheomalacia, Abnormal nasal mucus secretion, Chronic sinusitis, Upper ai... ORPHA:137914
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Short distal phalanx of the thumb, Finger syndactyly, Radial club ... ORPHA:959
Lymphoid Interstitial Pneumonia
Failure to thrive, Pulmonary venous hypertension, Subpleural interstitial thickening, Multiple pu... ORPHA:79128
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Holocarboxylase Synthetase Deficiency
Respiratory distress, Weight loss, Tachypnea ORPHA:79242
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Lateral Meningocele Syndrome
Kyphosis, Sclerosis of skull base, Short neck, Biconcave vertebral bodies, Scoliosis, Wormian bon... OMIM:130720
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Limited pronation/supination of f... ORPHA:1724
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive ORPHA:79312
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Progressive bowi... ORPHA:1826
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Failure to thrive OMIM:608799
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Arachnodactyly, Scoliosis, Hip dislocation, Vertebral fu... ORPHA:96169
Cholesteryl Ester Storage Disease
Hepatomegaly, Esophageal varix, Splenomegaly ORPHA:75234
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Crackles, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, R... ORPHA:747
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Intrauterine growth retardation ORPHA:89844
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Respiratory distress, Umbilical hernia ORPHA:226313
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Failure to thrive, Respiratory insufficiency, Respiratory failure requiring... ORPHA:308552
Multiple Carboxylase Deficiency
Respiratory distress, Tachypnea ORPHA:148
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Decreased body weight, Neonatal death, Pulmonary hypoplasia, Intraut... OMIM:608013
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:617895
Microphthalmia, Syndromic 3
Rib fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary... OMIM:206900
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Failure to thrive ORPHA:544503
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Bifid ribs, Beaking of vertebral bodies, Rib fusion, Overlapping toe, Craniosynostosis, Hyperexte... OMIM:213980
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive ORPHA:927
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia ORPHA:464453
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Small for gestational age, Tachypnea, Pneumonia, Obesit... ORPHA:26793
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Failure to thrive, Recurrent respiratory infections ORPHA:329178
Koolen-De Vries Syndrome
Kyphosis, Spondylolisthesis, Slender finger, Prominent fingertip pads, Prominent metopic ridge, S... OMIM:610443
Myhre Syndrome
Joint stiffness, Overlapping toe, Short toe, 2-3 toe syndactyly, Short long bone, Cone-shaped epi... OMIM:139210
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Failure to thrive, Respiratory failure, Dyspnea ORPHA:2707
Brain-Lung-Thyroid Syndrome
Respiratory distress, Failure to thrive, Asthma, Abnormal pulmonary interstitial morphology, Recu... ORPHA:209905
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Failure to thrive, Pulmonary arterial hypertension OMIM:619272
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death OMIM:300219
Retinitis Pigmentosa 89
Hepatosplenomegaly, Esophageal varix OMIM:618955
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema OMIM:617300
Restrictive Dermopathy 2
Respiratory distress, Intrauterine growth retardation OMIM:619793
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Sleep apnea, Respiratory insufficiency, Recurrent lower respiratory tract i... ORPHA:98915
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation ORPHA:314655
Pulmonary Alveolar Microlithiasis
Interlobular septal thickening, Oxygen desaturation on exertion, Subpleural interstitial thickeni... ORPHA:60025
Tetrasomy 5P
Respiratory distress, Failure to thrive, Pulmonary hypoplasia, Pulmonary arterial hypertension, R... ORPHA:3309
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Odontochondrodysplasia 1
Respiratory distress, Pulmonary hypoplasia, Recurrent respiratory infections OMIM:184260
Nasolacrimal Duct Cyst
Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Paroxysmal dyspnea... ORPHA:141083
Glycogen Storage Disease Iv
Failure to thrive, Hepatosplenomegaly, Esophageal varix OMIM:232500
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Respiratory insufficiency, Pulmonary hypoplasia, Intrauteri... OMIM:608022
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Dyspnea, Intermittent hyper... ORPHA:348
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Failure to thrive, Exertional dyspnea, Respiratory failure, Respiratory ins... OMIM:220110
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Esophageal neoplasm, Gastroesophageal reflux, Morphological abnormality of the... ORPHA:1018
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pulmonary hypoplasia, Neonatal death OMIM:231680
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Wormian bones, Tapered finger, Short femoral neck, Fused cervical vertebrae, Fla... OMIM:617159
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Fanconi Anemia, Complementation Group I
Absent thumb, Hypoplasia of the radius, Short 1st metacarpal, Short neck, Fused cervical vertebra... OMIM:609053
Faciodigitogenital Syndrome, Autosomal Recessive
Clinodactyly of the 5th finger, Down-sloping shoulders, Syndactyly, Camptodactyly, Short foot, Me... OMIM:227330
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Small hand, Scoliosis, Missing ribs, Block vertebrae... ORPHA:50
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Failure to thrive, Respiratory insufficiency ORPHA:367
Portal Hypertension, Noncirrhotic, 2
Hepatocellular carcinoma, Hepatomegaly, Esophageal varix, Splenomegaly OMIM:619463
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... OMIM:274000
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Failure to thrive OMIM:251000
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Short neck, Hypermobility of interphalangeal joints, Cervical hemivertebrae, Broad... ORPHA:508498
Congenital Myasthenic Syndrome
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Intermittent episodes of ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Intermittent episodes of ... ORPHA:98914
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, Short humerus, Scoliosis, Shoulder ... OMIM:607323
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive ORPHA:50810
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Esophageal varix OMIM:617341
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Failure to thrive, Apnea, Central hypoventilation, Respiratory failure ORPHA:70474
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Neonatal death, Pulmonary hypoplasia, Respiratory failure, Pneumothorax, In... OMIM:266910
Scimitar Syndrome
Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous return, Cough, Pulmonar... ORPHA:185
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Hemivertebrae, Scoliosis, Missing ribs, Block verteb... OMIM:304050
Duane Retraction Syndrome
Abnormal vertebral segmentation and fusion, Hypoplasia of the radius, Absent radius, Short neck, ... ORPHA:233
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections OMIM:619383
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... ORPHA:1199
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Episodic hypoventilation, Recurrent respiratory infections OMIM:301790
Simpson-Golabi-Behmel Syndrome
Vertebral segmentation defect, Short toe, Clinodactyly of the 5th finger, Short 2nd finger, Accel... ORPHA:373
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure ORPHA:3015
Complete Atrioventricular Septal Defect
Failure to thrive, Pulmonary venous hypertension, Crackles, Elevated pulmonary artery pressure, T... ORPHA:1329
Infantile Krabbe Disease
Respiratory distress, Failure to thrive, Respiratory failure, Cachexia ORPHA:206436
Nocardiosis
Respiratory distress, Nonproductive cough, Pleuritis, Productive cough, Pleural effusion, Pneumon... ORPHA:31204
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Apert Syndrome
Delayed epiphyseal ossification, Cervical C5/C6 vertebrae fusion, Finger syndactyly, Craniosynost... OMIM:101200
Triosephosphate Isomerase Deficiency
Respiratory distress, Failure to thrive, Respiratory insufficiency, Respiratory failure, Respirat... OMIM:615512
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased body weight, Gastroesophageal reflux, Abnormal esophagus morphology,... ORPHA:89842
Moebius Syndrome
Respiratory distress OMIM:157900
Farber Disease
Respiratory distress, Failure to thrive, Nodular pattern on pulmonary HRCT, Recurrent upper respi... ORPHA:333
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Dysphagia, Esophageal stricture, Abnormal esophagus morphology OMIM:226600
Craniofaciofrontodigital Syndrome
Large for gestational age, Dyspnea, Pulmonary arterial hypertension, Respiratory distress ORPHA:363705
Noonan Syndrome 7
Large for gestational age, Dysphagia, Abnormal esophagus morphology, Impaired oropharyngeal swall... OMIM:613706
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Failure to thrive OMIM:251110
Wolf-Hirschhorn Syndrome
Kyphosis, Preaxial foot polydactyly, Abnormal sternal ossification, Rib fusion, Vertebral fusion,... OMIM:194190
Kniest Dysplasia
Respiratory distress, Umbilical hernia, Tracheomalacia OMIM:156550
Congenital Tracheal Stenosis
Respiratory distress, Anomalous origin of left pulmonary artery from ascending aorta, Neonatal as... ORPHA:141127
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent bronchopulmonary infections, Recurrent pneumonia, Recurrent respi... OMIM:617303
Q Fever
Respiratory distress, Abnormal pulmonary interstitial morphology, Cough, Pleural effusion, Pneumo... ORPHA:781
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Failure to thrive, Sleep apnea, Respiratory insufficiency, Orthopnea, Respi... ORPHA:365
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Restrictive ventilatory defect,... OMIM:164310
Pachyonychia Congenita
Respiratory distress, Failure to thrive ORPHA:2309
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Esophageal stenosis OMIM:615190
Toxic Epidermal Necrolysis
Respiratory distress, Abnormal pleura morphology, Cough, Restrictive ventilatory defect, Weight l... ORPHA:537
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis OMIM:617796
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Failure to thrive OMIM:251100
Shwachman-Diamond Syndrome 1
Respiratory distress, Failure to thrive, Neonatal respiratory distress, Small for gestational age OMIM:260400
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Intrauterine growth retardation, Recurrent pneumonia OMIM:616271
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Intrauterine growth retardation OMIM:612863
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea, Pulmonary edema OMIM:115197
Sepsis In Premature Infants
Decreased body weight, Small for gestational age, Abnormal respiratory system physiology, Abnorma... ORPHA:90051
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Hepatomegaly, Splenomegaly, Inflammation of the large intestine, Esophageal varix OMIM:614576
Adams-Oliver Syndrome 6
Esophageal varix, Splenomegaly OMIM:616589
Pulmonary Hypertension, Primary, 3
Dyspnea, Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary... OMIM:615343
Robinow Syndrome
Short distal phalanx of finger, Rib fusion, Kyphoscoliosis, Fused thoracic vertebrae, Hemivertebr... ORPHA:97360
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Butterfly vertebrae, Spina bifida occulta OMIM:619227
Caroli Disease, Isolated
Hepatomegaly, Esophageal varix OMIM:600643
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Mogs-Cdg
Respiratory distress, Apnea, Pulmonary edema, Hypoventilation ORPHA:79330
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Tachypnea, Respiratory tract infection, Pneumonia ORPHA:36234
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Bronchogenic Cyst
Dysphagia, Abnormal esophagus morphology, Abnormal stomach morphology ORPHA:2357
Plummer-Vinson Syndrome
Esophageal web, Glossitis, Dysphagia, Tongue atrophy ORPHA:54028
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Stiff neck, Anteriorly plac... ORPHA:268882
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Rib fusion, Cone-shaped epiphysis, Scoliosis, Brachydactyly, Fused cervical ve... OMIM:157800
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Cryptococcosis
Respiratory distress, Nodular pattern on pulmonary HRCT, Cough, Pleural effusion, Pneumonia, Dyspnea ORPHA:1546
Cocaine Intoxication
Respiratory distress, Pulmonary edema, Tachypnea, Wheezing, Cough, Hyperventilation, Pneumothorax... ORPHA:90068
Dyskeratosis Congenita, Autosomal Dominant 6
Oral leukoplakia, Esophageal stenosis OMIM:616553
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Decreased body weight, Pulmonary edema, Epistaxis, Cough, Pleural effusion,... ORPHA:340
Auriculocondylar Syndrome
Respiratory distress, Snoring, Obstructive sleep apnea ORPHA:137888
Mgat2-Cdg
Respiratory distress, Failure to thrive, Recurrent upper and lower respiratory tract infections ORPHA:79329
Lysosomal Acid Lipase Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Steatorrhea, Hepatosplenomegaly, Esophageal varix OMIM:278000
Biotinidase Deficiency
Respiratory distress, Apnea, Myelopathy, Hyperventilation ORPHA:79241
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect, Cervical myelopathy OMIM:183900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Cachexia, Interstitial pneumonitis, Pneumonia, Failure to thrive in infancy... ORPHA:37042
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Apert Syndrome
Vertebral segmentation defect, Broad thumb, Cervical C5/C6 vertebrae fusion, Aplasia/Hypoplasia o... ORPHA:87
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Japanese Encephalitis
Respiratory distress, Pulmonary edema, Irregular respiration, Respiratory paralysis, Abnormal pat... ORPHA:79139
Ramos-Arroyo Syndrome
Respiratory distress, Decreased body weight, Severe failure to thrive ORPHA:1051
Meier-Gorlin Syndrome 1
Respiratory distress, Failure to thrive, Small for gestational age, Emphysema, Intrauterine growt... OMIM:224690
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Failure to thrive, Asthma, Pulmonary embolism, Cough, Pleural effusion, Dys... ORPHA:3260
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Gastric ulcer, Duodenal ulcer, Esophageal ulceration OMIM:618372
Arterial Tortuosity Syndrome
Respiratory distress, Cardiorespiratory arrest, Dyspnea, Pulmonary artery stenosis, Respiratory f... ORPHA:3342
Rodrigues Blindness
Nasal flaring OMIM:268320
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Inspiratory stridor ORPHA:100050
Alternating Hemiplegia Of Childhood
Respiratory distress, Failure to thrive, Apnea, Aspiration ORPHA:2131
Hepatoportal Sclerosis
Splenomegaly, Hepatocellular carcinoma, Gastric varix, Esophageal varix, Gastrointestinal hemorrhage ORPHA:64743
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Umbilical hernia ORPHA:1555
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections OMIM:300968
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... ORPHA:90291
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Airway obstruction, Pulmonary arterial hypertension, Stridor, Recurrent res... ORPHA:505248
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Failure to thrive, Pulmonary embolism, Pulmonary arterial hypertension, Int... ORPHA:79282
Campomelic Dysplasia
Respiratory distress, Failure to thrive, Apnea, Tracheomalacia, Recurrent upper respiratory tract... OMIM:114290
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Frontometaphyseal Dysplasia 2
Hip contracture, Dislocated radial head, Congenital hip dislocation, Scoliosis, Finger clinodacty... OMIM:617137
Ear-Patella-Short Stature Syndrome
Respiratory distress, Failure to thrive, Respiratory failure, Dyspnea, Intrauterine growth retard... ORPHA:2554
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Obesity, Intrauterine growth retardation, Recurrent respiratory infections ORPHA:177907
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Tracheomalacia, Repeated pneumothoraces, Respiratory insufficiency, Pulmona... ORPHA:536467
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Failure to thrive, Apnea, Recurrent respiratory infections ORPHA:17
Adnp Syndrome
Respiratory distress, Recurrent upper respiratory tract infections, Truncal obesity, Umbilical he... ORPHA:404448
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Apnea, Episodic respiratory distress, Hyperventilation, Dyspnea ORPHA:255210
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Nonproductive cough, Rhinitis ORPHA:319213
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Esophageal varix, Splenomegaly OMIM:263200
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Hepatocellular adenoma, ... ORPHA:370
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress OMIM:123790
Benign Schwannoma
Intestinal polyposis, Abnormal esophagus morphology, Abnormal parotid gland morphology ORPHA:252164
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Decreased body weight, Central sleep apnea, Recurrent respiratory infections OMIM:615273
Aspergillosis
Abnormal esophagus morphology ORPHA:1163
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Failure to thrive, Stridor, Pneumonia, Pneumothorax, Dyspnea, Respiratory f... ORPHA:79404
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Episodic respiratory distress, Pulmonary edema, Tachypnea ORPHA:31826
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Esophageal varix, Increase... ORPHA:264580
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Osteoglophonic Dysplasia
Respiratory distress, Failure to thrive OMIM:166250
Chops Syndrome
Cervical C2/C3 vertebral fusion, Brachydactyly, Tracheomalacia OMIM:616368
Adams-Oliver Syndrome
Failure to thrive, Gastrointestinal hemorrhage, Esophageal varix ORPHA:974
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Caroli Disease
Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Esophageal varix, Weight loss ORPHA:53035
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Coach Syndrome 1
Hepatomegaly, Esophageal varix, Splenomegaly OMIM:216360
Coccidioidomycosis
Respiratory distress, Pleural empyema, Cough, Pneumonia, Exudative pleural effusion ORPHA:228123
Adams-Oliver Syndrome 5
Esophageal varix, Right ventricular hypertrophy, Splenomegaly OMIM:616028
Rubinstein-Taybi Syndrome 1
Respiratory distress, Failure to thrive, Small for gestational age, Recurrent upper respiratory t... OMIM:180849
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension ORPHA:210122
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Respiratory distress, Paroxysmal dyspnea, Mi... ORPHA:99125
Craniorachischisis
Bifid sternum ORPHA:63260
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Failure to thrive, Small for gestational age, Umbilical hernia, Pulmonary a... ORPHA:2255
Arboleda-Tham Syndrome
Respiratory distress, Recurrent aspiration pneumonia, Neonatal respiratory distress, Intrauterine... OMIM:616268
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Pulmonary hypoplasia, Failure to thrive, Intrauterine growth retardation ORPHA:83617
Schinzel-Giedion Syndrome
Respiratory distress, Neural tube defect, Pulmonary hypoplasia, Recurrent pneumonia, Umbilical he... ORPHA:798
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Respiratory acidosis, Abnormal pulmonary interstitial morphology, Neonatal ... OMIM:614748
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Esophageal varix OMIM:619662
Listeriosis
Respiratory distress, Respiratory failure, Pneumonia ORPHA:533
Cirrhosis, Familial
Esophageal varix OMIM:215600
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Failure to thrive, Respiratory failure, Dyspnea ORPHA:2556
Aortic Arch Interruption
Respiratory distress, Exertional dyspnea, Aortopulmonary window, Tachypnea ORPHA:2299
Coffin-Lowry Syndrome
Drumstick terminal phalanges, Kyphosis, Short metacarpal, Hyperextensibility of the finger joints... OMIM:303600
Isolated Arrhinia
Respiratory distress ORPHA:1134
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Congenital hip dislocation, Absence of the sacrum, Short long bone OMIM:306955
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity, Asthma, Nasal flaring ORPHA:466943
Tuberous Sclerosis Complex
Respiratory distress, Pulmonary lymphangiomyomatosis, Respiratory failure, Respiratory tract infe... ORPHA:805
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Asthma, Intrauterine growth retardation ORPHA:3206
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Hypoplasia of proximal radius, Tracheomalacia, Small hand, Brach... ORPHA:444077
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis OMIM:305100
Lysosomal Acid Lipase Deficiency
Failure to thrive, Steatorrhea, Cachexia, Hepatosplenomegaly, Esophageal varix, Weight loss ORPHA:275761
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Gitelman Syndrome
Respiratory distress, Failure to thrive ORPHA:358
Hardikar Syndrome
Failure to thrive, Hepatomegaly, Hematemesis, Splenomegaly, Intestinal malrotation, Hepatosplenom... OMIM:301068
Eisenmenger Syndrome
Respiratory distress, Wheezing, Hypoxemia, Exertional dyspnea, Pulmonary arterial hypertension, A... ORPHA:97214
Dyskeratosis Congenita
Malabsorption, Hepatomegaly, Splenomegaly, Tracheoesophageal fistula, Esophageal stenosis, Anorec... ORPHA:1775
Ulbright-Hodes Syndrome
Respiratory distress, Severe intrauterine growth retardation, Pulmonary hypoplasia, Pneumothorax,... ORPHA:3404
Chronic Graft Versus Host Disease
Gastroesophageal reflux, Xerostomia, Abnormal esophagus morphology, Esophageal stricture, Esophag... ORPHA:99921
Kindler Syndrome
Dysphagia, Oral leukoplakia, Anal stenosis, Esophageal stenosis OMIM:173650
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Chronic lung disease, Respiratory failure requiring assisted ventilation, C... ORPHA:95455
Alacrima, Achalasia, And Mental Retardation Syndrome
Dysphagia, Achalasia, Esophageal stenosis OMIM:615510
Leptospirosis
Respiratory distress, Pulmonary hemorrhage, Pleural effusion, Cough ORPHA:509
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Failure to thrive, High palate, Gastroesophageal reflux, Small for gestational age... OMIM:613658
Doors Syndrome
Respiratory distress, Aspiration pneumonia, Arrhinencephaly, Spina bifida occulta, Sirenomelia ORPHA:79500
Classic Homocystinuria
High palate, Gastrointestinal hemorrhage, Hepatomegaly, Esophageal varix ORPHA:394
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Intestinal polyposis, Esophageal varix ORPHA:774
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Cutaneous finger syndactyly, Shortening of all phalanges of fing... OMIM:211380
Hepatocellular Carcinoma
Weight loss, Hepatomegaly, Esophageal varix, Abnormal rectum morphology ORPHA:88673
Wilson Disease
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Esophageal varix, Dysphagia OMIM:277900
Caroli Syndrome
Melena, Cholangiocarcinoma, Hepatomegaly, Hematemesis, Esophageal varix ORPHA:480520
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Splenomegaly, Hepatosplenomegaly, Enlarged kidney, Esophageal... ORPHA:731
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Esophageal varix, Splenomegaly ORPHA:309854
Craniofacial Microsomia
Hemivertebrae, Partial duplication of thumb phalanx, Scoliosis, Genu valgum, Cervical ribs, Verte... OMIM:164210
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Hamartoma of tongue, Anal atresia, Esophageal diverticulum, Cleft palate OMIM:617925
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatosplenomegaly, Hepatomegaly, Esophageal varix, Splenomegaly OMIM:615688
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervica... ORPHA:51608
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Failure to thrive, Intrauterine growth retardation, Recurrent pneumonia ORPHA:99646
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Splenomegaly, Cachexia, Hepatosplenomegaly, Esophageal varix, Gastric ulcer ORPHA:2072
8Q24.3 Microdeletion Syndrome
Respiratory distress, Small for gestational age, Spina bifida occulta, Abnormal lung lobation, Br... ORPHA:508488
Plague
Respiratory distress, Acute infectious pneumonia ORPHA:707
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Recurrent upper and lower respiratory tract infections ORPHA:480880
Senior-Boichis Syndrome
Hepatosplenomegaly, Esophageal varix ORPHA:84081
Alström Syndrome
Respiratory distress, Chronic pulmonary obstruction, Chronic bronchitis, Recurrent upper respirat... ORPHA:64
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High palate, Failure to thrive, Hepatosplenomegaly, Esophageal varix, Dysphagia, Cleft soft palate OMIM:619503
Biliary, Renal, Neurologic, And Skeletal Syndrome
Failure to thrive, Gastroesophageal reflux, Hepatomegaly, Splenomegaly, Esophageal varix OMIM:619534
Pmm2-Cdg
Aspiration pneumonia, Failure to thrive, Respiratory distress ORPHA:79318

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
Sulf2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Sulf2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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