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Gene: Isl1 MGI:101791

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ISL1 transcription factor, LIM/homeodomain
Synonyms:
Islet 1

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 Isl1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Isl1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bladder Exstrophy
Intestinal malrotation, Abnormality of the anus, Umbilical hernia ORPHA:93930

The table below shows human diseases predicted to be associated to Isl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Absent stapes head, Abnormality of the malleus, Congenit... OMIM:128980
Deafness-Ear Malformation-Facial Palsy Syndrome
Aplasia/Hypoplasia of the earlobes, Hypoplasia of the antihelix, Conductive hearing impairment, A... ORPHA:3232
Deafness, Conductive, With Malformed External Ear
Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Abnormal pin... OMIM:221300
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Progressive Deafness With Stapes Fixation
Bilateral conductive hearing impairment, Stapes ankylosis ORPHA:3235
Deafness, Progressive, With Stapes Fixation
Bilateral conductive hearing impairment, Stapes ankylosis OMIM:601449
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ... ORPHA:3216
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Symphalangism, Proximal, 1A
Conductive hearing impairment, Distal symphalangism of hands, Stapes ankylosis, Carpal synostosis... OMIM:185800
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Treacher Collins Syndrome 2
Anotia, Microtia, Conductive hearing impairment, Fusion of middle ear ossicles OMIM:613717
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Chronic otitis media, Conductive hearing impairment, Atresia of the external auditory canal OMIM:221320
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Lambert Syndrome
Cholestasis, Branchial anomaly, Ventricular septal defect, Intrahepatic biliary atresia, Jaundice ORPHA:1296
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Atresia of the external auditory canal, Hearing impairment ORPHA:3023
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Stapes ankylosis, Proximal/middle symphalangism of 5th finger, Con... OMIM:184460
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Abnormality of the ankle, Bilateral conductive hearing impairment, Atresia of the external audito... ORPHA:2010
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Renal, Genital, And Middle Ear Anomalies
Abnormality of the middle ear ossicles, Hearing impairment OMIM:267400
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Otosclerosis 11
Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im... OMIM:620576
Deafness, X-Linked 7
Stenosis of the external auditory canal, Posteriorly rotated ears, Atresia of the external audito... OMIM:301018
Coxoauricular Syndrome
Atresia of the external auditory canal, Hearing impairment, Reduced bone mineral density, Hip dis... ORPHA:1508
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Cardiospondylocarpofacial Syndrome
Low-set ears, Conductive hearing impairment, Delayed skeletal maturation, Fusion of middle ear os... OMIM:157800
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, General... ORPHA:52368
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Absent tragus, Abnormality of the outer ear, Conductive hearing impairment, Atresia... ORPHA:79113
Branchiootic Syndrome
Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can... ORPHA:52429
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... ORPHA:50815
Microtia
Hypoplastic helices, Atresia of the external auditory canal, Anotia, Unilateral conductive hearin... ORPHA:83463
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Elbow dislocation, Aplasia... ORPHA:3236
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Congenital hip dislocation, Conductive hearing impairment, Atresia of the external auditory canal OMIM:133705
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Abnormality of the middle ear ossicles, Atresia of the external auditor... OMIM:609166
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Atresia of the external auditory canal OMIM:209770
Otofaciocervical Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Delayed skeletal maturatio... ORPHA:2792
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Absent brainstem auditory responses,... OMIM:617519
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Microtia OMIM:141400
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Cryptorchidism, Abnormal mitral valve morphology, High palate, Pu... ORPHA:1131
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Atresia of the external auditory canal, Hearing impairment, Aganglionic megacolon, Abnormal auton... OMIM:243180
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Microtia ORPHA:2213
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Enlarged cochlear aqueduct, Stenosis ... ORPHA:107
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Tet... ORPHA:210122
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Atresia of the external auditory canal, Microtia OMIM:300946
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Microtia, Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear OMIM:251800
Braddock-Carey Syndrome 2
Atresia of the external auditory canal, Hearing impairment OMIM:619981
Branchiooculofacial Syndrome
Low-set ears, Conductive hearing impairment, Hearing impairment, Fusion of middle ear ossicles, E... OMIM:113620
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Neonatal death OMIM:611890
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... OMIM:601455
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Joint contracture of the hand, Conductive hearing impairment, Atresia of the external auditory ca... OMIM:608257
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Perlman Syndrome
High, narrow palate, Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism, Hepatomegaly ORPHA:2849
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Cooper-Jabs Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Camptodactyly of finger, L... ORPHA:1488
Oculoauriculovertebral Spectrum With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Sensorineural hearing impa... ORPHA:2549
Verheij Syndrome
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck, Cleft palate OMIM:615583
Otosclerosis 4
Mixed hearing impairment, Otosclerosis OMIM:611571
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly... OMIM:208540
Multiple Synostoses Syndrome 4
Tarsal synostosis, Otosclerosis OMIM:617898
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Bifid uvula, Abnormal heart morphology, Atrioventricular canal defect, Furrowed t... ORPHA:453499
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
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
Multiple Synostoses Syndrome 1
Bilateral conductive hearing impairment, Conductive hearing impairment, Stapes ankylosis, Carpal ... OMIM:186500
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Microtia OMIM:239800
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... ORPHA:1435
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Skin rash, Abnormality of visual evoked p... OMIM:617523
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Atrophy of the spinal cord... OMIM:602433
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Verloove Vanhorick-Brubakk Syndrome
Low-set ears, Tarsal synostosis, Atresia of the external auditory canal, Microtia ORPHA:3429
Lambotte Syndrome
Atresia of the external auditory canal, Macrotia OMIM:245552
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Conductive hearing impairment, Atresia of the external auditory canal, Delayed ossification of pu... OMIM:602471
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Atresia of the external auditory canal OMIM:601356
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Hearing impairment, Bowing of limbs due to multiple fractures, Increased susceptibi... OMIM:166220
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Abnormal auditory evoked potentials, Joint dislocation, Hearing im... OMIM:193700
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Joint contracture, Exa... OMIM:616881
Lateral Meningocele Syndrome
Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Sensorineura... ORPHA:2789
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Hip dislocation, Sensorineural hearing impairment OMIM:109120
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Protruding ear, Facial pal... ORPHA:2316
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology ORPHA:2590
Crouzon Syndrome
Lambdoidal craniosynostosis, Optic atrophy, Coronal craniosynostosis, Conductive hearing impairme... OMIM:123500
Otosclerosis 10
Otosclerosis OMIM:615589
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Cryptorchidism ORPHA:435938
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Hearing impairment, Increased susceptibility to fractures, Joint hyperm... OMIM:166200
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Atopic dermatitis, Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Holoprosencephaly
Spinal dysraphism, Tetralogy of Fallot, Panhypopituitarism, Abnormality of the spleen, Abnormal p... ORPHA:2162
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology ORPHA:275872
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Radioulnar synostosis, Stapes ankylosis OMIM:614701
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Coronal craniosynostosis, Conductive hearing impairment, Stapes anky... OMIM:614188
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Abnormality of the outer ear, Hearing impairment, Abnormal mi... OMIM:182290
Diamond-Blackfan Anemia 7
Osteopenia, Atresia of the external auditory canal, Hearing impairment, Recurrent otitis media, E... OMIM:612562
Nager Syndrome
Atresia of the external auditory canal, Hearing impairment, Low-set, posteriorly rotated ears, Jo... ORPHA:245
Branchiootorenal Syndrome 1
Bifid uvula, Branchial fistula, Branchial cyst, Euthyroid goiter, Intestinal malrotation, High pa... OMIM:113650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Bifid uvula, Cystic hygroma, Exaggerated median tongue furrow, Intestinal ps... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Bifid uvula, Cystic hygroma, Exaggerated median tongue furrow, Intestinal ps... ORPHA:352665
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis OMIM:614373
Meckel Syndrome, Type 7
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Situs inversus totalis... OMIM:267010
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis... OMIM:615710
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid... ORPHA:64744
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Diamond-Blackfan Anemia 10
Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Hearing impa... OMIM:613309
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Delayed skeletal maturation, Sensorineura... OMIM:619260
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Acrootoocular Syndrome
Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Abnormal ear... ORPHA:2980
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Mandibulofacial Dysostosis, Guion-Almeida Type
Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Overfolded h... OMIM:610536
Acrocraniofacial Dysostosis
Conductive hearing impairment, Low-set, posteriorly rotated ears, Genu valgum, Sensorineural hear... ORPHA:949
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Feingold Syndrome
Annular pancreas, Duodenal atresia, Abnormality of the spleen, Esophageal atresia, Patent ductus ... ORPHA:1305
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Neonatal insulin-depen... ORPHA:2255
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Atresia of the external auditory canal, Delayed skeletal matur... ORPHA:1770
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Diamond-Blackfan Anemia 11
Stenosis of the external auditory canal, Radioulnar synostosis, Atresia of the external auditory ... OMIM:614900
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:606070
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Abnormal auditory evoked potentials, Aspiration pneumonia, Autonomic ... ORPHA:99027
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:608030
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Branchial fistula, Ankyloglossia, Truncus arteriosus, Ventricular septal def... ORPHA:261330
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Branchial fistula, Cryptorchidism, Ventricular septal defect, Low posterior hairline... ORPHA:261337
Mullegama-Klein-Martinez Syndrome
Low-set ears, Atresia of the external auditory canal, Absent stapes, Sensorineural hearing impair... OMIM:301022
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Diabetes ... OMIM:167800
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, Decreased serum insulin-like growth factor 1, Atrial septal defect, High palate... OMIM:618162
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:105400
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Ventricular septal defect, Neonatal death, Bicuspid aortic ... OMIM:265380
Isolated Cleft Lip
Abnormal Eustachian tube morphology, Conductive hearing impairment, Chronic otitis media, Polyhyd... ORPHA:199302
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Bifid uvula, Absent nipple, Natal tooth, Branchial cyst, Ankyloglossia, Congenital hypothyroidism... OMIM:620186
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Decreased nerve conduction velocity, Head tremor, Sensorineural hearing impairment, ... ORPHA:101085
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect OMIM:615503
Aceruloplasminemia
Abnormal pancreas morphology, Torticollis, Elevated hepatic iron concentration, Diabetes mellitus... ORPHA:48818
Warburg-Cinotti Syndrome
Low-set ears, Ankle flexion contracture, Hypoplasia of the ear cartilage, Conductive hearing impa... OMIM:618175
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Recurrent pneumonia, Abnormal helix morphology, Large... ORPHA:798
Dextrocardia
Webbed neck, Abnormality of abdominal situs, Pancreatic hypoplasia, Meckel diverticulum, Abnormal... ORPHA:1666
Kapur-Toriello Syndrome
Low-set ears, Posteriorly rotated ears, Atresia of the external auditory canal ORPHA:2328
Campomelia, Cumming Type
Cystic hygroma, Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells ORPHA:1145
Mogs-Cdg
Optic atrophy, Generalized edema, Edema, Sensorineural hearing impairment, Pulmonary edema, Absen... ORPHA:79330
Chromosome 18Q Deletion Syndrome
Atopic dermatitis, Optic atrophy, Conductive hearing impairment, Atresia of the external auditory... OMIM:601808
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Treacher-Collins Syndrome
Branchial fistula, Encephalocele, Cryptorchidism, Glossoptosis, Hypoplasia of the thymus, Abnorma... ORPHA:861
Van Maldergem Syndrome 1
Osteopenia, Conductive hearing impairment, Atresia of the external auditory canal, Tracheomalacia... OMIM:601390
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Matthew-Wood Syndrome
Annular pancreas, Duodenal stenosis, Cryptorchidism, Abnormal spleen morphology, Aplasia/Hypoplas... ORPHA:2470
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis OMIM:617892
Bohring-Opitz Syndrome
Supernumerary nipple, Intestinal malrotation, Bilateral cleft palate, Hyperechogenic pancreas, Ve... OMIM:605039
Cockayne Syndrome Type 1
Optic atrophy, Foot joint contracture, Hearing impairment, Abnormality of peripheral nerve conduc... ORPHA:90321
Barber-Say Syndrome
Atresia of the external auditory canal, Abnormal pinna morphology, Hearing impairment ORPHA:1231
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Branchial cyst, Abnormal heart morphology, Atrioventricular canal de... ORPHA:508488
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Van Maldergem Syndrome 2
Osteopenia, Conductive hearing impairment, Atresia of the external auditory canal, Hearing impair... OMIM:615546
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Patent ductus arteriosus, Atrial septal defect, Ectopic anterior pituitary gland, Ventricular sep... OMIM:620558
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:205100
Isotretinoin-Like Syndrome
Atresia of the external auditory canal, Anotia, Aplasia/Hypoplasia of the inner ear, Bilateral se... ORPHA:2306
Generalized Arterial Calcification Of Infancy
Conductive hearing impairment, Hearing impairment, Stapes ankylosis, Osteomalacia, Ascites, Abnor... ORPHA:51608
16P13.11 Microdeletion Syndrome
Low-set ears, Atresia of the external auditory canal, Camptodactyly of finger, Sensorineural hear... ORPHA:261236
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Total absence of the pericardium, Hypoplastic tricuspid valve, Pan... OMIM:600001
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,... ORPHA:456312
Neurofaciodigitorenal Syndrome
Low-set ears, Atresia of the external auditory canal, Abnormal antitragus morphology, Abnormal tr... ORPHA:2673
Feingold Syndrome 1
Accessory spleen, Annular pancreas, Polysplenia, Duodenal atresia, Ventricular septal defect, Jej... OMIM:164280
Mycophenolate Mofetil Embryopathy
Atresia of the external auditory canal, Tracheomalacia, Hearing impairment, Anotia, Hydrops fetal... ORPHA:268249
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst ORPHA:2260
Distal Deletion 12Q
High, narrow palate, Congenital hypertrophy of left ventricle, Pituitary adenoma, Annular pancrea... ORPHA:96149
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... ORPHA:90695
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnormal hip joint... ORPHA:171929
Meier-Gorlin Syndrome 1
Low-set ears, Genu recurvatum, Joint contracture of the hand, Atresia of the external auditory ca... OMIM:224690
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:300857
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Ventricular septal d... OMIM:263520
Meckel Syndrome
Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Situs inversus totalis, Cryp... ORPHA:564
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Short neck, Pancreatic fibrosis, Hepatomegaly, ... OMIM:200995
Ear-Patella-Short Stature Syndrome
Low-set ears, Abnormality of the outer ear, Microtia, third degree, Atresia of the external audit... ORPHA:2554
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Diabetes mellitus, Pancrea... OMIM:615935
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Ventricular septal defect, Short neck, Atrial septal defect, Py... OMIM:147791
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Annular pancreas, Tetralogy of Fallot, Abnormal left ven... ORPHA:264450
Fryns Syndrome
Broad neck, Meckel diverticulum, Polysplenia, Intestinal malrotation, Cryptorchidism, Ventricular... OMIM:229850
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Pearson Syndrome
Cardiomyopathy, Steatorrhea, Abnormal heart morphology, Decreased response to growth hormone stim... ORPHA:699
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Webbed neck, Annular pancreas, Intestinal malrotat... ORPHA:2308
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Pfeiffer Syndrome Type 2
Low-set ears, Tracheomalacia, Limitation of joint mobility, Atresia of the external auditory canal ORPHA:93259
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Spinocerebellar tract degeneration, Degeneration of anter... ORPHA:276244
Fanconi Anemia, Complementation Group D2
Annular pancreas, Abnormal heart morphology, Cryptorchidism, Tracheoesophageal fistula, Esophagea... OMIM:227646
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... OMIM:260370
Lateral Meningocele Syndrome
Low-set ears, Conductive hearing impairment, Sclerosis of skull base, Joint hypermobility, Wormia... OMIM:130720
Campomelia, Cumming Type
Abnormal intestine morphology, Abnormality of the pancreas, Hepatomegaly, Cystic hygroma, Pancrea... ORPHA:1318
Beckwith-Wiedemann Syndrome
Abnormal pancreas morphology, Umbilical hernia, Hypertrophic cardiomyopathy, Exocrine pancreatic ... ORPHA:116
Atelosteogenesis Type I
Malrotation of colon, Cleft palate, Abnormal pancreatic duct morphology ORPHA:1190
Cerebrotendinous Xanthomatosis
Optic atrophy, Osteopenia, Abnormal auditory evoked potentials, Abnormal motor evoked potentials,... ORPHA:909
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, High palate, Steatorrhea OMIM:617941
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Decre... ORPHA:95494
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hepatic cysts, Mitral valve prolapse, Pancreatic cysts, Po... ORPHA:730
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic mucocutaneous candidiasis, Tympanosclerosis, Keratoconjunctivitis, Ir... OMIM:240300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Hypothyroidism, Delayed p... OMIM:616263
Alveolar Echinococcosis
Biliary cirrhosis, Abnormal pericardium morphology, Abnormal mesentery morphology, Portal hyperte... ORPHA:284
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Limitation of joint mobility, Ivory epiphyses... OMIM:216400
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Limitation of joint mobility, Ivory epiphyses... OMIM:133540
17Q24.2 Microdeletion Syndrome
Abnormality of the ankle, Otosclerosis, Recurrent otitis media, Abnormality of the wrist, Progres... ORPHA:529962
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Duodenal atresia, Furrowed tongue, Cryptorchidism, Patent foramen ovale, Ventri... OMIM:616975
14Q22Q23 Microdeletion Syndrome
Cupped ear, Atresia of the external auditory canal, Hearing impairment, Delayed skeletal maturati... ORPHA:264200
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conjunctivitis, Blepharitis, Conductive hearing impairment, Atresia of the external auditory canal OMIM:106260
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Decreased circ... OMIM:610199
Bosma Arhinia Microphthalmia Syndrome
Absent tragus, Abnormal pinna morphology, Conductive hearing impairment, Atresia of the external ... OMIM:603457
Nephronophthisis 13
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:614377
Glycogen Storage Disease Ib
Inflammation of the large intestine, Splenomegaly, Pancreatitis, Delayed puberty, Pancreatic fibr... OMIM:232220
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Cardiomegaly, Abnormal cardiac septum morphology, Cleft palate ORPHA:97297
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Pancreatic hypoplasia, Diabetes mellitus, Pancreatic aplasia OMIM:609069
Cerebrocostomandibular Syndrome
Tracheomalacia, Conductive hearing impairment, Atresia of the external auditory canal ORPHA:1393
Bone Marrow Failure Syndrome 3
Hyperechogenic pancreas, Pancreatic steatosis, Exocrine pancreatic insufficiency, Cryptorchidism OMIM:617052
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Beare-Stevenson Cutis Gyrata Syndrome
Optic atrophy, Atresia of the external auditory canal, Limited elbow extension, Craniosynostosis,... OMIM:123790
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Abnormality of the neck, Abnormal spleen morphology, Pericardia... ORPHA:464329
Orofaciodigital Syndrome I
Hepatic fibrosis, Abnormal heart morphology, Myelomeningocele, Ankyloglossia, Hamartoma of tongue... OMIM:311200
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts OMIM:616307
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic cysts, Polyc... OMIM:208500
1P36 Deletion Syndrome
Dilated cardiomyopathy, Annular pancreas, Abnormal heart valve morphology, Tetralogy of Fallot, A... ORPHA:1606
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Neonatal... OMIM:263200
Intellectual Developmental Disorder, X-Linked 112
Volvulus, Abnormal heart morphology, Cryptorchidism, Bicuspid aortic valve, Pancreatic cysts OMIM:301111
Tropical Calcific Pancreatitis
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... OMIM:608189
Mucopolysaccharidosis Type 3
Optic atrophy, Conductive hearing impairment, Hearing impairment, Aspiration pneumonia, Joint sti... ORPHA:581
Japanese Encephalitis
Paucity of anterior horn motor neurons, Hyperintensity of MRI T2 signal of the spinal cord ORPHA:79139
Acrofacial Dysostosis 1, Nager Type
Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Limited elbo... OMIM:154400
Fraser Syndrome 2
Low-set ears, Oligohydramnios, Atresia of the external auditory canal OMIM:617666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Low-set ears, Optic atrophy, Congenital contracture, Atresia of the external auditory canal, Micr... OMIM:236670
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of the outer ear, Atresia of the external auditory canal, Hearing impairment ORPHA:3186
Treacher Collins Syndrome 1
Conductive hearing impairment, Atresia of the external auditory canal, Microtia OMIM:154500
Pearson Marrow-Pancreas Syndrome
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Villous atrophy, Macronodular cirrho... OMIM:557000
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Delayed eruption of teeth, Anteriorly placed anus, Hypogonadism, Cryptorchidism... OMIM:268400
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Abnormality of exocrine pancreas physiology, Hepatic steatosis, Aplasia/Hypopla... ORPHA:93111
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Cardiomyopathy, Adrenal pheochromocytoma, Pancreatic is... ORPHA:892
Ablepharon Macrostomia Syndrome
Atresia of the external auditory canal, Hearing impairment, Camptodactyly of finger, Microtia ORPHA:920
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Monosomy 9P
Low-set ears, Limitation of joint mobility, Atresia of the external auditory canal, Anotia, Abnor... ORPHA:261112
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis OMIM:615911
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Ankyloglossia, Annular pancreas, Cleft palate ORPHA:488642
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:608627
Fraser Syndrome 1
Low-set ears, Cupped ear, Atresia of the external auditory canal, Conductive hearing impairment, ... OMIM:219000
Mucopolysaccharidosis Type 2
Hip osteoarthritis, Optic atrophy, Otosclerosis, Conductive hearing impairment, Limitation of joi... ORPHA:580
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, B... OMIM:137920
Pallister-Hall Syndrome
Atresia of the external auditory canal, Radial head subluxation, Posteriorly rotated ears, Hip di... OMIM:146510
Witteveen-Kolk Syndrome
High, narrow palate, Branchial fistula, Decreased response to growth hormone stimulation test, Ty... OMIM:613406
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis ORPHA:803
17Q12 Microdeletion Syndrome
Diabetes mellitus, Cryptorchidism, Pancreatic aplasia ORPHA:261265
Von Hippel-Lindau Syndrome
Pheochromocytoma, Neoplasm of the pancreas, Hepatic hemangioma, Pancreatic cysts, Paraganglioma OMIM:193300
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Otosclerosis, Conductive hearing impairment, Limitation of joint mobility, Camptod... ORPHA:217085
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology OMIM:614298
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Otosclerosis, Conductive hearing impairment, Limitation of joint mobility, Camptod... ORPHA:217093
Cornelia De Lange Syndrome
Hip dislocation, Conductive hearing impairment, Atresia of the external auditory canal, Delayed s... ORPHA:199
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Absent gallbladder, Neonatal death, ... OMIM:618500
Pancreatic Agenesis-Holoprosencephaly Syndrome
Neonatal insulin-dependent diabetes mellitus, High palate, Absent gallbladder, Pancreatic aplasia ORPHA:556955
Craniofacial Microsomia 1
Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Ventricular septal defect, Paten... OMIM:164210
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Protein-losing enteropathy, Cholestasis, Hepatosplenomegal... ORPHA:731
Fraser Syndrome
Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can... ORPHA:2052
Idiopathic Camptocormia
Syringomyelia, Myelitis, Amyotrophic lateral sclerosis ORPHA:1320
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis ORPHA:600
Doors Syndrome
Low-set ears, Optic atrophy, Atresia of the external auditory canal, Aspiration pneumonia, Sagitt... ORPHA:79500
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Recurrent otitis media, Tracheomalacia, Abnormal Eustachian tube morphology, Lower-limb joint con... ORPHA:513456
Pallister-Hall Syndrome
Auricular tag, Atresia of the external auditory canal, Low-set, posteriorly rotated ears, Oligohy... ORPHA:672
Bladder Exstrophy
Intestinal malrotation, Abnormality of the anus, Umbilical hernia ORPHA:93930

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 Isl1

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 Isl1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Disruption of spatiotemporal hypoxic signaling causes congenital heart disease in mice. The Journal of clinical investigation (April 2017) Isl1tm1a(KOMP)Wtsi PMC5451223

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Isl1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Isl1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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