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Gene: Isl2 MGI:109156

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

insulin related protein 2 (islet 2)

Synonyms:

3110001N10Rik, islet-2, islet 2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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 Isl2 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.

Human diseases associated with Isl2 (0 diseases)
Human diseases predicted to be associated with Isl2 (419 diseases)

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

The table below shows human diseases predicted to be associated to Isl2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Amyotrophic Lateral Sclerosis 19	Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis	OMIM:615515
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Trehalase Deficiency	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	ORPHA:103909
Lethal Congenital Contracture Syndrome 3	Neonatal death, Respiratory insufficiency	OMIM:611369
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology	OMIM:607641
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Respiratory failure	OMIM:613435
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea	OMIM:616868
Congenital Pancreatic Cyst	Abdominal distention, Vomiting, Anorexia, Abdominal pain	ORPHA:313906
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Spinal Muscular Atrophy, Type I	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence	OMIM:300717
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Respiratory insuf...	OMIM:611890
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology	ORPHA:247604
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness	OMIM:611067
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d...	OMIM:620045
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea	ORPHA:103907
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ...	OMIM:602099
Hirschsprung Disease, Susceptibility To, 1	Abdominal distention, Constipation, Vomiting, Enterocolitis	OMIM:142623
Adiposis Dolorosa	Abdominal distention, Constipation	OMIM:103200
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:616081
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Amyotrophic lateral sclerosis, Respiratory insufficiency	OMIM:617892
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain	ORPHA:168829
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Respiratory failure, Respiratory insufficiency due to mus...	ORPHA:2590
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Neonatal death	OMIM:253310
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure	OMIM:613954
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic lateral sclerosis	OMIM:614373
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616437
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Volvulus Of Midgut	Abdominal distention, Constipation, Neonatal intestinal obstruction	OMIM:193250
Nemaline Myopathy 8	Death in infancy, Respiratory failure	OMIM:615348
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis	OMIM:611895
Primary Effusion Lymphoma	Abdominal distention, Abdominal pain	ORPHA:48686
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Gastrointestinal dysmotility...	OMIM:613662
Cap Polyposis	Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation	ORPHA:160148
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting	OMIM:619445
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,...	ORPHA:35689
Amyotrophic Lateral Sclerosis 11	Amyotrophic lateral sclerosis	OMIM:612577
Neuromyelitis Optica Spectrum Disorder	Respiratory failure, Myelitis	ORPHA:71211
Small Bowel Atresia	Abdominal distention, Vomiting, Feeding difficulties	ORPHA:1201
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis	OMIM:619141
Athyreosis	Abdominal distention, Constipation, Feeding difficulties	ORPHA:95713
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ...	OMIM:606070
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal respiratory system physiol...	ORPHA:803
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology	OMIM:607225
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea	OMIM:618414
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:608030
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure	OMIM:225753
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Respiratory failure, Death in childhood	OMIM:619334
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Pseudobulbar paralysis, Dysphagia	OMIM:606353
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Pontocerebellar Hypoplasia Type 1	Degeneration of anterior horn cells, Respiratory failure, Congenital laryngeal stridor	ORPHA:2254
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Abdominal distention	OMIM:174050
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency	OMIM:614399
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:610127
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea	OMIM:606824
Thyroid Hemiagenesis	Abdominal distention, Constipation	ORPHA:95719
Spondylocostal Dysostosis 1, Autosomal Recessive	Abdominal distention, Protuberant abdomen, Death in infancy	OMIM:277300
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte...	OMIM:615237
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Neurogenic bladder	OMIM:263570
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Respiratory insufficiency	ORPHA:93941
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Tachypnea, Cough	OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ...	OMIM:265120
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Tachypnea, Degeneration of anterior horn cells, Respiratory failure, Inspiratory stridor, Ventila...	OMIM:604320
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Achondrogenesis, Type Ib	Abdominal distention, Stillbirth	OMIM:600972
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat...	OMIM:608647
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis	OMIM:612069
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105550
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Visceral Myopathy, Familial, With External Ophthalmoplegia	Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain	OMIM:277320
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La...	ORPHA:2302
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis	OMIM:614808
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:245400
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Weakness of muscles of respiration	ORPHA:52430
Peritoneal Cystic Mesothelioma	Abdominal distention, Constipation, Abdominal pain	ORPHA:168816
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Dysph...	OMIM:105400
Infantile-Onset X-Linked Spinal Muscular Atrophy	Degeneration of anterior horn cells, Abnormal anterior horn cell morphology, Respiratory distress...	ORPHA:1145
Mitochondrial Neurogastrointestinal Encephalomyopathy	Small intestinal dysmotility, Poor appetite, Abdominal pain, Abdominal distention, Gastrointestin...	ORPHA:298
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology	OMIM:215470
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Respiratory insufficiency	OMIM:313420
Vacterl Association With Hydrocephalus	Respiratory failure, Stillbirth, Respiratory insufficiency	OMIM:276950
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Abdominal distention, Diarrhea, Vomiting, Decreased liver function, Neonatal death	OMIM:608104
Hyperekplexia 4	Respiratory failure	OMIM:618011
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology	ORPHA:275872
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abdominal distention, Diarrhea	ORPHA:103910
Malignant Peritoneal Mesothelioma	Abdominal distention, Ileus, Abdominal pain	ORPHA:168811
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure	OMIM:618240
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Cardiomyopathy, Dilated, 2H	Neonatal death, Tachypnea, Cardiorespiratory arrest	OMIM:620203
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory failure, Respiratory insufficiency	ORPHA:370968
Acrocephalopolydactyly	Protuberant abdomen	ORPHA:221054
Wolman Disease	Nausea and vomiting, Abdominal distention, Malnutrition, Hepatic failure	ORPHA:75233
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Respiratory failure, Nocturnal hypoventilation	OMIM:620326
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Feeding difficulties in infancy, Abdominal distention, Constipation, Protuberant abdomen	ORPHA:226313
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting	ORPHA:35710
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Motor neuron atrophy, Spinocerebellar tract degeneration, Abnormal neuron morphology	ORPHA:412066
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure	ORPHA:168486
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Feeding difficulties in infancy, Abdominal distention, Intestinal pseudo-obstruction, Vomiting	OMIM:300048
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology	OMIM:221770
Porphyria Due To Ala Dehydratase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Constipation, Episodic vomiting, Nausea	ORPHA:100924
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:300857
Gonadoblastoma	Abdominal distention, Abdominal pain	ORPHA:206484
Liver Failure, Infantile, Transient	Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, V...	OMIM:613070
Qazi-Markouizos Syndrome	Chronic constipation, Abdominal distention	ORPHA:3010
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Respiratory failure	OMIM:616867
Anterior Cutaneous Nerve Entrapment Syndrome	Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract...	ORPHA:51890
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abdominal distention	ORPHA:369
Ovarian Fibroma	Abdominal distention, Abdominal pain	ORPHA:314473
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Folinic Acid-Responsive Seizures	Abdominal distention	ORPHA:79097
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona...	ORPHA:98913
Combined Oxidative Phosphorylation Deficiency 53	Abdominal distention, Death in infancy, Death in childhood	OMIM:619423
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory failure, Respiratory insufficiency	OMIM:615330
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Abdominal distention, Gastroesophageal reflux, Death in infancy, Feeding difficulties	OMIM:620275
Inflammatory Pseudotumor Of The Liver	Abdominal distention, Vomiting, Nausea, Abdominal pain	ORPHA:90003
Secondary Short Bowel Syndrome	Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Enterocolitis, Consti...	ORPHA:95427
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Respiratory insufficiency	OMIM:601612
Achondrogenesis Type 1A	Abdominal distention	ORPHA:93299
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level	ORPHA:70578
Acute Interstitial Pneumonia	Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure...	ORPHA:79126
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress	OMIM:312170
Intermediate Nemaline Myopathy	Respiratory failure	ORPHA:171433
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency	OMIM:256000
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis	OMIM:620296
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood	OMIM:617186
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Neonatal death, Respiratory insufficiency	OMIM:245650
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain	ORPHA:83469
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death	OMIM:614922
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Respiratory failure, Respiratory insufficiency	OMIM:618186
Meckel Syndrome, Type 8	Abdominal distention	OMIM:613885
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death, Abdominal distention	OMIM:619362
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Neurogenic bladder, Dysphagia	OMIM:615911
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation	OMIM:603689
Visceral Myopathy 1	Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal...	OMIM:155310
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure	OMIM:610678
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Respiratory failure, Spina bifida occulta, Respiratory insufficiency due to muscle...	OMIM:618291
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Immunodeficiency 54	Respiratory failure, Respiratory insufficiency	OMIM:609981
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Abdominal distention, Hypoperistalsis	OMIM:619365
Lead Poisoning	Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Constipation, Vomiting, Abdominal cr...	ORPHA:330015
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention	ORPHA:1876
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure	ORPHA:352447
Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:600274
Congenital Muscular Dystrophy, Ullrich Type	Respiratory failure	ORPHA:75840
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
Idiopathic Pulmonary Hemosiderosis	Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough	ORPHA:99931
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory...	ORPHA:449280
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Neurogenic bladder, Degeneration of anterior horn cells, ...	ORPHA:276244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Restrictive ventilatory defect, Respiratory failure	OMIM:606612
Pancreatoblastoma	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	ORPHA:677
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:205100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	OMIM:619132
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Ovarian Fibrothecoma	Abdominal distention, Abdominal pain	ORPHA:314478
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Anorexia, Abdominal distention, Spinal cord tumor, Episodic abdominal pain	ORPHA:370348
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Abdominal distention	OMIM:618528
Thyroid Hypoplasia	Abdominal distention, Constipation	ORPHA:95720
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Respiratory failure	ORPHA:1194
Hereditary Fructose Intolerance	Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ...	ORPHA:469
Alg1-Cdg	Respiratory failure	ORPHA:79327
Congenital Tufting Enteropathy	Abdominal distention, Chronic diarrhea, Secretory diarrhea, Vomiting	ORPHA:92050
Nephrotic Syndrome, Type 1	Abdominal distention, Gastroesophageal reflux	OMIM:256300
Niemann-Pick Disease, Type A	Feeding difficulties in infancy, Constipation, Vomiting, Protuberant abdomen	OMIM:257200
Microvillus Inclusion Disease	Abdominal distention, Diarrhea	ORPHA:2290
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology, Gastroesophageal reflux, Vomiting	OMIM:601162
Severe Neurodegenerative Syndrome With Lipodystrophy	Respiratory failure	ORPHA:363400
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure	OMIM:614862
Polyembryoma	Abdominal distention, Abdominal pain	ORPHA:180229
Necrotizing Enterocolitis	Abdominal distention, Diarrhea, Vomiting, Bloody diarrhea	ORPHA:391673
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C...	ORPHA:244
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial...	ORPHA:563
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Protuberant abdomen	OMIM:618272
Mirizzi Syndrome	Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Nausea	ORPHA:521219
Chylomicron Retention Disease	Abdominal distention, Diarrhea, Vomiting	ORPHA:71
Muscular Dystrophy, Duchenne Type	Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti...	OMIM:310200
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Respiratory failure, Paroxysmal dyspnea	ORPHA:444013
Currarino Syndrome	Neurogenic bladder, Tethered cord, Gastrointestinal obstruction, Abdominal distention, Chronic co...	OMIM:176450
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Abdominal distention, Nausea, Abdominal pain	ORPHA:64739
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Nausea and vomiting, Abdominal distention, Death in infancy, Hypoperistalsis	ORPHA:2241
Nephronophthisis 2	Respiratory failure, Respiratory insufficiency	OMIM:602088
Hereditary Motor And Sensory Neuropathy, Type Iic	Stridor, Respiratory failure, Intercostal muscle weakness	OMIM:606071
Colonic Atresia	Abdominal distention	ORPHA:1198
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Metatropic Dysplasia	Respiratory failure, Respiratory insufficiency	OMIM:156530
Snakebite Envenomation	Respiratory failure, Respiratory paralysis, Epistaxis	ORPHA:449285
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:607625
Congenital Myopathy 10B, Mild Variant	Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia	OMIM:620249
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype...	OMIM:616482
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat...	OMIM:220110
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira...	OMIM:615512
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,...	ORPHA:70
Pediatric Systemic Lupus Erythematosus	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	ORPHA:93552
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	OMIM:608627
Platyspondylic Dysplasia, Torrance Type	Abdominal distention	ORPHA:85166
Sepsis In Premature Infants	Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abnormali...	ORPHA:90051
Lethal Congenital Contracture Syndrome 2	Respiratory failure	OMIM:607598
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure	OMIM:616505
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
Cholesteryl Ester Storage Disease	Acute hepatic failure, Death in infancy, Diarrhea, Vomiting, Protuberant abdomen, Hepatic failure	OMIM:278000
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Protuberant abdomen	OMIM:613330
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Abdominal distention, Secretory diarrhea	OMIM:270420
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea	ORPHA:100085
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Abdominal distention, Hepatic failure, Death in infancy	OMIM:235255
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Fibrochondrogenesis 2	Protuberant abdomen	OMIM:614524
Thanatophoric Dysplasia, Type I	Neonatal death, Protuberant abdomen	OMIM:187600
Donohue Syndrome	Abdominal distention	OMIM:246200
Gallbladder Neuroendocrine Tumor	Abdominal distention, Nausea, Anorexia, Episodic abdominal pain	ORPHA:100086
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure	ORPHA:542323
Achondrogenesis, Type Ii	Stillbirth, Protuberant abdomen	OMIM:200610
Celiac Disease, Susceptibility To, 1	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	OMIM:212750
Acute Intermittent Porphyria	Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi...	ORPHA:79276
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Japanese Encephalitis	Hyperintensity of MRI T2 signal of the spinal cord, Respiratory distress, Paucity of anterior hor...	ORPHA:79139
Sandestig-Stefanova Syndrome	Respiratory failure	OMIM:618804
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa...	OMIM:608836
Congenital Multicore Myopathy With External Ophthalmoplegia	Abnormal respiratory system physiology, Respiratory failure, Pneumonia	ORPHA:98905
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood	OMIM:620278
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis	OMIM:215600
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Protuberant abdomen	OMIM:617102
Schneckenbecken Dysplasia	Stillbirth, Protuberant abdomen	OMIM:269250
Multiple Acyl-Coa Dehydrogenase Deficiency	Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest	ORPHA:26791
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure	ORPHA:3226
Letterer-Siwe Disease	Abdominal distention	OMIM:246400
Pulmonary Alveolar Microlithiasis	Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B...	ORPHA:60025
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Alternating Hemiplegia Of Childhood	Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal dysmotility, Diarrhea...	ORPHA:2131
Lysosomal Acid Lipase Deficiency	Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh...	ORPHA:275761
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Protuberant abdomen	OMIM:184250
Schimke Immuno-Osseous Dysplasia	Abdominal distention	ORPHA:1830
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Neurogenic bladder, Recurrent pneumonia, Resp...	ORPHA:496641
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Secretory diarrhea	OMIM:214700
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Chronic diarrhea, Vomiting, Abdominal distention	OMIM:620233
Vocal Cord And Pharyngeal Distal Myopathy	Respiratory insufficiency due to muscle weakness, Aspiration, Amyotrophic lateral sclerosis	ORPHA:600
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure, Myelitis	ORPHA:2912
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Fanconi-Bickel Syndrome	Abdominal distention, Hepatic failure	ORPHA:2088
Metachromatic Leukodystrophy, Late Infantile Form	Feeding difficulties in infancy, Abdominal distention	ORPHA:309256
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Protuberant abdomen	OMIM:151210
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest	OMIM:617248
Gaucher Disease, Type Ii	Death in infancy, Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, Dysphagia	OMIM:230900
Meckel Syndrome 14	Abdominal distention, Protuberant abdomen	OMIM:619879
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology	ORPHA:100070
Severe Congenital Nemaline Myopathy	Respiratory failure	ORPHA:171430
Al Amyloidosis	Gastrointestinal hemorrhage, Abdominal distention, Gastroparesis, Dysphagia	ORPHA:85443
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention	OMIM:602557
Castleman Disease	Nausea and vomiting, Abdominal distention, Intestinal obstruction, Abdominal pain	ORPHA:160
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:610505
Congenital Tricuspid Valve Dysplasia	Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea	ORPHA:555874
3-Methylglutaconic Aciduria Type 7	Respiratory failure, Pneumothorax	ORPHA:445038
Hereditary Spherocytosis	Abdominal distention, Abdominal pain	ORPHA:822
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal distention, Diarrhea, Colitis, Abdominal pain	ORPHA:309031
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Reye syndrome-like episodes, Diarrhea, Abdominal distention, Vomiting, Hep...	OMIM:256810
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,...	ORPHA:258
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai...	ORPHA:209905
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Abdominal distention, Hepatic failure, Death in infancy	OMIM:617156
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Protuberant abdomen	ORPHA:457485
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abdominal distention, Hepatic failure	ORPHA:1655
Glycine Encephalopathy With Normal Serum Glycine	Respiratory failure, Apnea	OMIM:617301
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention	ORPHA:93352
Lymphatic Malformation 7	Abdominal distention	OMIM:617300
Infantile Krabbe Disease	Respiratory distress, Respiratory failure	ORPHA:206436
Fibrochondrogenesis 1	Stillbirth, Protuberant abdomen	OMIM:228520
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Metachromatic Leukodystrophy, Juvenile Form	Abdominal distention	ORPHA:309263
Fanconi-Bickel Syndrome	Abdominal distention, Poor appetite	OMIM:227810
Neu-Laxova Syndrome 2	Protuberant abdomen, Spina bifida	OMIM:616038
Mitochondrial Trifunctional Protein Deficiency	Respiratory failure, Respiratory insufficiency	ORPHA:746
Familial Visceral Myopathy	Abdominal distention	ORPHA:2604
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Respiratory insufficiency	OMIM:618329
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Respiratory failure	ORPHA:3240
Thyroid Ectopia	Abdominal distention, Constipation	ORPHA:95712
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure	OMIM:620327
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
Metachromatic Leukodystrophy, Adult Form	Abdominal distention, Bowel incontinence	ORPHA:309271
Riddle Syndrome	Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Restrictive ventilatory defect, Respiratory fa...	ORPHA:420741
Primary Biliary Cholangitis	Abdominal distention, Hepatic failure, Gastrointestinal inflammation	ORPHA:186
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Protuberant abdomen	OMIM:264700
Vitamin D-Dependent Rickets, Type 2A	Protuberant abdomen	OMIM:277440
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia	OMIM:617809
Sialuria	Protuberant abdomen	OMIM:269921
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nausea and vomiting, Abdominal distention	ORPHA:79403
Wilson Disease	Acute hepatic failure, Abdominal distention, Vomiting, Dysphagia, Hepatic failure	OMIM:277900
Diaphanospondylodysostosis	Protuberant abdomen	OMIM:608022
Idiopathic Hypereosinophilic Syndrome	Abdominal pain, Feeding difficulties in infancy, Abdominal distention, Chronic diarrhea, Colitis,...	ORPHA:3260
Osteopetrosis, Autosomal Recessive 5	Respiratory failure, Stillbirth	OMIM:259720
Achondrogenesis, Type Ia	Stillbirth, Protuberant abdomen	OMIM:200600
Arterial Tortuosity Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest	ORPHA:3342
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration	ORPHA:506
Atelosteogenesis, Type I	Neonatal death, Stillbirth, Protuberant abdomen	OMIM:108720
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Schimke Immunoosseous Dysplasia	Protuberant abdomen	OMIM:242900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology	OMIM:614298
Lethal Kniest-Like Dysplasia	Protuberant abdomen	ORPHA:2347
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abdominal distention, Vomiting	ORPHA:158684
Smith-Lemli-Opitz Syndrome	Death in infancy, Abdominal distention, Gastrointestinal dysmotility, Feeding difficulties, Vomit...	OMIM:270400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Respiratory failure, Tachypnea, Respiratory insufficiency, Death in childhood	OMIM:618278
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
X-Linked Acrogigantism	Abdominal distention	ORPHA:300373
Congenital Fiber-Type Disproportion Myopathy	Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As...	ORPHA:2020
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:252010
Malignant Atrophic Papulosis	Pleural effusion, Respiratory failure	ORPHA:679
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in...	ORPHA:365
Hypothyroidism, Congenital, Nongoitrous, 2	Feeding difficulties in infancy, Abdominal distention, Constipation	OMIM:218700
Ane Syndrome	Motor neuron atrophy	ORPHA:157954
Short-Rib Thoracic Dysplasia 12	Neonatal death, Protuberant abdomen	OMIM:269860
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ...	ORPHA:79138
Lethal Acantholytic Erosive Disorder	Respiratory failure	ORPHA:158687
Hypocalcemic Vitamin D-Dependent Rickets	Protuberant abdomen	ORPHA:289157
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Respiratory failure	ORPHA:254528
Hurler Syndrome	Protuberant abdomen	OMIM:607014
Mucopolysaccharidosis, Type Vii	Protuberant abdomen	OMIM:253220
Kasabach-Merritt Syndrome	Abdominal distention, Abdominal pain	ORPHA:2330
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Syringomyelia, Myelitis	ORPHA:1320
Mucolipidosis Ii Alpha/Beta	Myelopathy, Protuberant abdomen, Death in childhood	OMIM:252500
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion	ORPHA:340
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Abdominal distention	OMIM:271520
Joubert Syndrome 21	Dyspnea, Respiratory failure, Chronic sinusitis, Apnea	OMIM:615636
Bloom Syndrome	Rhinitis, Chronic pulmonary obstruction, Pneumonia, Respiratory failure	ORPHA:125
Opsismodysplasia	Protuberant abdomen	OMIM:258480
Greenberg Dysplasia	Neonatal death, Stillbirth, Protuberant abdomen	OMIM:215140
Fraser Syndrome 2	Abdominal distention	OMIM:617666
Combined Immunodeficiency-Enteropathy Spectrum	Abdominal distention, Bloody diarrhea	ORPHA:436252
Multiple Endocrine Neoplasia Type 2	Abdominal distention, Diarrhea, Constipation	ORPHA:653
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Abdominal distention	OMIM:619351
Listeriosis	Respiratory distress, Respiratory failure, Miscarriage, Pneumonia	ORPHA:533
Glycogen Storage Disease Ia	Intermittent diarrhea, Protuberant abdomen	OMIM:232200
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Feeding difficulties, Protuberant abdomen, Tube feeding	OMIM:619479
Dyggve-Melchior-Clausen Disease	Protuberant abdomen	ORPHA:239
Atelosteogenesis Type Ii	Protuberant abdomen	ORPHA:56304
Mucopolysaccharidosis Type 3	Intermittent diarrhea, Constipation, Protuberant abdomen, Dysphagia	ORPHA:581
Rajab Interstitial Lung Disease With Brain Calcifications 1	Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema	OMIM:613658
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Respiratory failure	OMIM:300868
Atresia Of Urethra	Abdominal distention	ORPHA:105
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2554
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Miscarriage, Spinal dysraphism, Restrictive ventilatory defect, Respiratory failure, Pulmonary ar...	ORPHA:96334
Glycogen Storage Disease Ib	Inflammation of the large intestine, Protuberant abdomen	OMIM:232220
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure	ORPHA:79404
Abetalipoproteinemia	Respiratory failure	ORPHA:14
Liver Disease, Severe Congenital	Abdominal distention, Diarrhea, Malnutrition, Dependency on parenteral nutrition, Feeding difficu...	OMIM:619991
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Diarrhea, Enterocolitis, Ulcerative colitis, Inflammation of the large intestine, Protuberant abd...	ORPHA:79259
Mucolipidosis Type Ii	Protuberant abdomen, Gastrostomy tube feeding in infancy	ORPHA:576
Pyknoachondrogenesis	Abdominal distention	ORPHA:3003
Nijmegen Breakage Syndrome	Respiratory failure, Recurrent pneumonia	ORPHA:647
Myhre Syndrome	Respiratory failure, Respiratory insufficiency	OMIM:139210
Arboleda-Tham Syndrome	Protuberant abdomen, Gastroesophageal reflux, Dysphagia, Feeding difficulties	OMIM:616268
Steinert Myotonic Dystrophy	Respiratory insufficiency due to muscle weakness, Respiratory failure requiring assisted ventilat...	ORPHA:273
Weill-Marchesani Syndrome 2	Protuberant abdomen	OMIM:608328
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Diarrhea, Gastrointestinal inflammation	ORPHA:95455
Blomstrand Lethal Chondrodysplasia	Protuberant abdomen	ORPHA:50945
Otopalatodigital Syndrome, Type Ii	Respiratory failure, Stillbirth, Respiratory insufficiency, Spina bifida	OMIM:304120
Costello Syndrome	Tracheomalacia, Respiratory failure, Pneumothorax, Respiratory insufficiency	OMIM:218040
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2556
Leprechaunism	Abdominal distention	ORPHA:508
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Respiratory failure, Recurrent pneumonia, Spontaneous pneumothorax	ORPHA:731
Cranioectodermal Dysplasia 1	Hepatic failure, Protuberant abdomen	OMIM:218330
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Protuberant abdomen	OMIM:618019
Niemann-Pick Disease Type C	Respiratory failure, Respiratory insufficiency, Aspiration pneumonia	ORPHA:646
Viss Syndrome	Abdominal distention, Chronic diarrhea, Feeding difficulties, Chronic constipation, Gastroesophag...	OMIM:619472
Tuberous Sclerosis Complex	Respiratory distress, Respiratory failure	ORPHA:805
Proteasome-Associated Autoinflammatory Syndrome 1	Chronic constipation, Protuberant abdomen, Death in adolescence	OMIM:256040
Biliary, Renal, Neurologic, And Skeletal Syndrome	Neonatal death, Abdominal distention, Gastroesophageal reflux	OMIM:619534
Mowat-Wilson Syndrome	Abdominal distention, Constipation, Vomiting	OMIM:235730
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Dyspnea, Respiratory failure	ORPHA:2636
Eisenmenger Syndrome	Abdominal distention	ORPHA:97214
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Respiratory failure, Emphysema	ORPHA:500150
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax	ORPHA:3404
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abdominal distention	ORPHA:93271

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 Isl2

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 Isl2.

No publications found that use IMPC mice or data for Isl2.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Isl2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Isl2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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