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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
Umbilical hernia, Intestinal malrotation, Abnormality of the anus 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 speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... OMIM:128980
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... ORPHA:3232
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, D... ORPHA:90646
Symphalangism, Proximal, 1A
Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Metacarpophalangeal synostosis, Proximal ... OMIM:185800
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Treacher Collins Syndrome 2
Anotia, Conductive hearing impairment, Fusion of middle ear ossicles, Microtia OMIM:613717
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal OMIM:221320
Lambert Syndrome
Ventricular septal defect, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic biliary atresia ORPHA:1296
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Overfolded helix, Abnormal antihelix morphology, Large earlobe, Microtia, Atresia ... ORPHA:79113
Branchiootic Syndrome
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... ORPHA:52429
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
Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle symphalangism of 5th finger, Fused... OMIM:184460
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Bilateral conductive hearing impairment, Abnormality of the ankle, Atresia of ... ORPHA:2010
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Deafness, X-Linked 7
Stenosis of the external auditory canal, Posteriorly rotated ears, Atresia of the external audito... OMIM:301018
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Coxoauricular Syndrome
Hip dislocation, Reduced bone mineral density, Microtia, Atresia of the external auditory canal, ... ORPHA:1508
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory cana... OMIM:609166
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Joint laxity, Posteriorly rotated ears, Tarsal synostosis, Congenital sensorin... OMIM:157800
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... ORPHA:3236
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Tremor, ... ORPHA:52368
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Congenital hip dislocation, Atresia of the external auditory canal OMIM:133705
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Atresia of the external auditory canal OMIM:209770
Otofaciocervical Syndrome
Delayed skeletal maturation, Protruding ear, Abnormal antihelix morphology, Atresia of the extern... ORPHA:2792
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:141400
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Atresia of the external audi... OMIM:243180
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... ORPHA:2549
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Atresia of the external auditory canal ORPHA:2213
X-Linked Mandibulofacial Dysostosis
Cryptorchidism, Branchial anomaly, High palate, Pulmonic stenosis, Webbed neck, Abnormal mitral v... ORPHA:1131
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Microtia
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ... ORPHA:83463
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Braddock-Carey Syndrome 2
Atresia of the external auditory canal, Hearing impairment OMIM:619981
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Branchiooculofacial Syndrome
Posteriorly rotated ears, Facial palsy, Sensorineural hearing impairment, Elbow flexion contractu... OMIM:113620
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:300946
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Anotia, Atresia of the external auditory canal, Camptodactyly, Conductive hearing impairment, Ste... OMIM:608257
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Neonatal death OMIM:611890
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Craniosynostosis, Abnormality of th... ORPHA:949
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... OMIM:600501
Perlman Syndrome
Hepatomegaly, High, narrow palate, Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology ORPHA:2849
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... OMIM:601455
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Reduced bone mineral density, Joint h... ORPHA:1488
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short neck, Cleft palate, Truncus arteriosus OMIM:615583
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis OMIM:617898
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Malformation of t... OMIM:208540
Lateral Meningocele Syndrome
Prominent metopic ridge, Wormian bones, Posteriorly rotated ears, Abnormality of the middle ear o... ORPHA:2789
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Multiple Synostoses Syndrome 1
Carpal synostosis, Stapes ankylosis, Proximal/middle symphalangism of 5th toe, Tarsal synostosis,... OMIM:186500
Isolated Cleft Lip
Conductive hearing impairment, Chronic otitis media, Abnormal Eustachian tube morphology, Polyhyd... ORPHA:199302
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
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, ... ORPHA:453499
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:239800
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... ORPHA:35689
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Verloove Vanhorick-Brubakk Syndrome
Microtia, Tarsal synostosis, Atresia of the external auditory canal, Low-set ears ORPHA:3429
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Lambotte Syndrome
Macrotia, Atresia of the external auditory canal OMIM:245552
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Atresia of the external auditory canal OMIM:601356
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Recurrent fractures, Reduced bone mineral density, Increased susceptibility to frac... OMIM:166220
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Delayed sk... ORPHA:1435
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Simple ear, Delayed ossification of pubic rami, Hip dislocation, Atresia of the external auditory... OMIM:602471
Arthrogryposis, Distal, Type 2A
Joint dislocation, Hip contracture, Flexion contracture of finger, Recurrent fractures, Polyhydra... OMIM:193700
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy, Exaggerated sta... OMIM:616881
Otosclerosis 10
Otosclerosis OMIM:615589
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Atopic dermatitis, Os... ORPHA:3240
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Hip dislocation, Abnormal auditory evoked potentials OMIM:109120
Johnson Neuroectodermal Syndrome
Facial palsy, Protruding ear, Microtia, Atresia of the external auditory canal, Conductive hearin... ORPHA:2316
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Skin rash, Abnormal auditory evoked potentials OMIM:617523
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Finger join... OMIM:166200
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Radioulnar synostosis, Low-set ears OMIM:614701
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Crouzon Syndrome
Sagittal craniosynostosis, Keratitis, Optic atrophy, Conjunctivitis, Atresia of the external audi... OMIM:123500
Holoprosencephaly
Encephalocele, Diabetes mellitus, Ventricular septal defect, Abnormal pulmonary valve morphology,... ORPHA:2162
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology ORPHA:275872
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Nager Syndrome
Low-set, posteriorly rotated ears, Joint stiffness, Microtia, Atresia of the external auditory ca... ORPHA:245
Lateral Meningocele Syndrome
Vertebral fusion, Wormian bones, Posteriorly rotated ears, Abnormality of the middle ear ossicles... OMIM:130720
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Intestinal malrotation, Cleft palate, Euthyroid goiter, High p... OMIM:113650
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology ORPHA:2590
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... OMIM:615710
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Bicuspid aortic valve, Ventricular septal defect, Supernumerary... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Bicuspid aortic valve, Ventricular septal defect, Supernumerary... ORPHA:352665
Craniosynostosis And Dental Anomalies
Stapes ankylosis, Prominent metopic ridge, Papilledema, Absent malleus, Sagittal craniosynostosis... OMIM:614188
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia ORPHA:1203
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Situs inversus totalis, Patent ductus arteriosus, Biliary ... OMIM:267010
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Iridocyclitis, Chronic mucocutaneous candidiasis, K... OMIM:240300
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis OMIM:614373
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Cryptorchidism ORPHA:435938
Diamond-Blackfan Anemia 10
Posteriorly rotated ears, Microtia, Atresia of the external auditory canal, Low-set ears, Conduct... OMIM:613309
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... ORPHA:64744
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Diamond-Blackfan Anemia 7
Osteopenia, Polyhydramnios, Osteoporosis, Atresia of the external auditory canal, Esophagitis, Re... OMIM:612562
Acrootoocular Syndrome
Sensorineural hearing impairment, Delayed skeletal maturation, Abnormal earlobe morphology, Pseud... ORPHA:2980
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Delayed skeletal maturation, Optic disc pallor, Sensorineural hearing impairment, Abnormal audito... OMIM:619260
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Biliary atresia, Aplasia/Hypoplasia of the gallblad... ORPHA:2255
Feingold Syndrome
Abnormality of the spleen, Patent ductus arteriosus, Esophageal atresia, Annular pancreas, Duoden... ORPHA:1305
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Mandibulofacial Dysostosis, Guion-Almeida Type
Microtia, Atresia of the external auditory canal, Low-set ears, Conductive hearing impairment, Ov... OMIM:610536
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Delayed skeletal maturation, Microtia, Atresia of the external... ORPHA:1770
Diamond-Blackfan Anemia 11
Radioulnar synostosis, Stenosis of the external auditory canal, Atresia of the external auditory ... OMIM:614900
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... ORPHA:99027
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Mullegama-Klein-Martinez Syndrome
Facial palsy, Sensorineural hearing impairment, Absent stapes, Microtia, Atresia of the external ... OMIM:301022
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:608030
Aceruloplasminemia
Torticollis, Diabetes mellitus, Abnormal pancreas morphology, Abnormal thalamic MRI signal intens... ORPHA:48818
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Ventricular septal defect, High, narrow palate, Pyloric stenosis, Cleft palate... ORPHA:261330
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex... OMIM:167800
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Neonatal death, Atrial septal defect, At... OMIM:265380
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Patent ductus arteriosus, High palate, Atrial septa... OMIM:618162
Warburg-Cinotti Syndrome
Posteriorly rotated ears, Ankle flexion contracture, Elbow flexion contracture, Osteolytic defect... OMIM:618175
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Schinzel-Giedion Syndrome
Abnormality of the stapes, Wormian bones, Aganglionic megacolon, Recurrent pneumonia, Hypsarrhyth... ORPHA:798
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:105400
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Absent nipple, Aplasia of the thymus, Hypothyroidism, Congenital hyp... OMIM:620186
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis OMIM:615503
Kapur-Toriello Syndrome
Posteriorly rotated ears, Atresia of the external auditory canal, Low-set ears ORPHA:2328
Dextrocardia
Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of... ORPHA:1666
Campomelia, Cumming Type
Pancreatic cysts, Cystic hygroma, Polysplenia, Polycystic liver disease OMIM:211890
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Low poste... ORPHA:261337
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology ORPHA:1145
Chromosome 18Q Deletion Syndrome
Joint laxity, Tremor, Sensorineural hearing impairment, Optic atrophy, Atopic dermatitis, Atresia... OMIM:601808
Mucopolysaccharidosis Type 3
Mixed hearing impairment, Thickened helices, Abnormality of the middle ear ossicles, Joint stiffn... ORPHA:581
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Cryptorchidism, Patent ductus arteriosus, Tracheoesophageal fis... ORPHA:861
Van Maldergem Syndrome 1
Osteopenia, Joint laxity, Wide cranial sutures, Tracheomalacia, Sensorineural hearing impairment,... OMIM:601390
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Motor neuron atrophy, Spinocerebellar tract degeneration, Abnormal neuron morphology ORPHA:412066
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Barber-Say Syndrome
Abnormal pinna morphology, Atresia of the external auditory canal, Hearing impairment ORPHA:1231
Bohring-Opitz Syndrome
Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Supernumerary nipple, ... OMIM:605039
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conductive hearing impairment, Conjunctivitis, Atresia of the external auditory canal, Blepharitis OMIM:106260
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology... ORPHA:2470
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis OMIM:617892
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ectopic posterior pituitary, Ventricular septal defect, Short neck, Dysplastic ao... ORPHA:508488
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Foot joint contracture, Tremor, Optic atrophy, Uveitis, Conj... ORPHA:90321
Generalized Arterial Calcification Of Infancy
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Abnormality... ORPHA:51608
Trisomy 8P
Multiple joint contractures, Posteriorly rotated ears, Aplasia/Hypoplasia of the tragus, Metopic ... ORPHA:264450
Van Maldergem Syndrome 2
Osteopenia, Joint laxity, Wide cranial sutures, Tracheomalacia, Sensorineural hearing impairment,... OMIM:615546
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:205100
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Sensorineural hearing impairment, EEG abnormality, Atresia of the extern... ORPHA:261236
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal... OMIM:600001
Mogs-Cdg
Absent brainstem auditory responses, Pulmonary edema, Polyhydramnios, Edema, Sensorineural hearin... ORPHA:79330
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Anotia, Microtia, Atresia of the external auditory canal, Tracheomalacia, Hearin... ORPHA:268249
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo... ORPHA:456312
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... OMIM:164280
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... OMIM:609136
Neurofaciodigitorenal Syndrome
External ear malformation, Abnormality of the elbow, Abnormal tragus morphology, Abnormal antitra... ORPHA:2673
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect ORPHA:2260
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi... ORPHA:2306
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Distal Deletion 12Q
Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Short neck, H... ORPHA:96149
Trisomy 10P
Wide cranial sutures, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with bur... ORPHA:171929
Meier-Gorlin Syndrome 1
Joint laxity, Absent sternal ossification, Genu recurvatum, Aplasia/Hypoplasia of the patella, El... OMIM:224690
Igg4-Related Submandibular Gland Disease
Cholangitis, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Enlarged lacrimal glands... ORPHA:449432
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:300857
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Hamartoma of tongue, Intestinal malrotation, Clef... OMIM:263520
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Short neck, Hypoplasia of the small intesti... OMIM:200995
Ear-Patella-Short Stature Syndrome
Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis, Elbo... ORPHA:2554
Pancreatic Agenesis 2
Diabetes mellitus, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic in... OMIM:615935
Meckel Syndrome
Encephalocele, Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia,... ORPHA:564
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Jacobsen Syndrome
Ventricular septal defect, Short neck, Cryptorchidism, Pyloric stenosis, Atrial septal defect, An... OMIM:147791
Fryns Syndrome
Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotati... OMIM:229850
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Pearson Syndrome
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Decreased response to g... ORPHA:699
Jacobsen Syndrome
Ventricular septal defect, Intestinal malrotation, Spina bifida, Short neck, Cryptorchidism, Pylo... ORPHA:2308
Pfeiffer Syndrome Type 2
Tracheomalacia, Limitation of joint mobility, Atresia of the external auditory canal, Low-set ears ORPHA:93259
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... OMIM:260370
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Esophageal atresia, Tra... OMIM:227646
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Spinocerebellar trac... ORPHA:276244
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Cryptorchidism, Large placenta, Splenomega... ORPHA:116
Campomelia, Cumming Type
Hepatomegaly, Pancreatic cysts, Abnormality of the pancreas, Cleft palate, Abnormal intestine mor... ORPHA:1318
Shwachman-Diamond Syndrome 2
Hepatomegaly, Steatorrhea, High palate, Hyperechogenic pancreas, Exocrine pancreatic insufficiency OMIM:617941
Autosomal Dominant Polycystic Kidney Disease
Polycystic liver disease, Pancreatic cysts, Mitral valve prolapse, Pituitary growth hormone cell ... ORPHA:730
Atelosteogenesis Type I
Malrotation of colon, Abnormal pancreatic duct morphology, Cleft palate ORPHA:1190
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Steatorrhea, Hepatic fibros... OMIM:616263
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Posteriorly rotated ears, Delayed skeletal maturation, Cupped ear, Atresia o... ORPHA:264200
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Abnormal pericardium morphology, Pancreatic cyst... ORPHA:284
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Furrowed tongue, High palate... OMIM:616975
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomega... OMIM:610199
Cerebrotendinous Xanthomatosis
Osteopenia, Optic disc pallor, Resting tremor, Abnormal auditory evoked potentials, Optic neuropa... ORPHA:909
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Delayed puberty, Inflammation of the large intes... OMIM:232220
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Bohring-Opitz Syndrome
Cardiomegaly, Cleft palate, Abnormal cardiac septum morphology, Cholelithiasis, Annular pancreas ORPHA:97297
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Nephronophthisis 13
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:614377
Bosma Arhinia Microphthalmia Syndrome
Conductive hearing impairment, Abnormal pinna morphology, Atresia of the external auditory canal,... OMIM:603457
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Tracheomalacia ORPHA:1393
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Bone Marrow Failure Syndrome 3
Pancreatic steatosis, Cryptorchidism, Hyperechogenic pancreas, Exocrine pancreatic insufficiency OMIM:617052
Cockayne Syndrome A
Hip contracture, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve ... OMIM:216400
Beare-Stevenson Cutis Gyrata Syndrome
Posteriorly rotated ears, Craniosynostosis, Optic atrophy, Atresia of the external auditory canal... OMIM:123790
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
17Q24.2 Microdeletion Syndrome
Otosclerosis, Microtia, Recurrent otitis media, Abnormality of the ankle, Progressive conductive ... ORPHA:529962
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... OMIM:208500
Senior-Loken Syndrome 8
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Pericardial effusion, Hepatosplenomegaly, Abnormality of the neck... ORPHA:464329
Orofaciodigital Syndrome I
Hamartoma of tongue, Pancreatic cysts, Myelomeningocele, Cleft palate, Abnormal heart morphology,... OMIM:311200
1P36 Deletion Syndrome
Abnormal heart valve morphology, Cryptorchidism, Abnormality of the spleen, Dilated cardiomyopath... ORPHA:1606
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:608627
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Esophageal varix, Periportal f... OMIM:263200
Acrofacial Dysostosis 1, Nager Type
Posteriorly rotated ears, Aganglionic megacolon, Hip dislocation, Radioulnar synostosis, Atresia ... OMIM:154400
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption, Macronodular cirrhosis, Steato... OMIM:557000
Fraser Syndrome 2
Atresia of the external auditory canal, Low-set ears, Oligohydramnios OMIM:617666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Optic atrophy, Congenital contracture, Microtia, Atresia of the external ... OMIM:236670
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis ORPHA:803
Japanese Encephalitis
Paucity of anterior horn motor neurons, Hyperintensity of MRI T2 signal of the spinal cord ORPHA:79139
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of the outer ear, Atresia of the external auditory canal, Hearing impairment ORPHA:3186
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Recurrent otitis media, Lower-limb joint contracture, Abnormal Eustachian tube morphology, Trache... ORPHA:513456
Treacher Collins Syndrome 1
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:154500
Monosomy 9P
Limitation of joint mobility, Abnormal antihelix morphology, Anotia, Microtia, Atresia of the ext... ORPHA:261112
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Microtia, Atresia of the external auditory canal, Hearing impairment ORPHA:920
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Diabetes mellitus, Hypothyroidism, Jaundice, Pyloric stenosis, Aplasia/Hypoplasia of the pancreas... ORPHA:93111
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Myocarditis, Pancreati... ORPHA:892
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Cryptorchidism, Anteriorly placed anus, Hypogonadism, High palate, Ann... OMIM:268400
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas, Ankyloglossia, Cleft palate ORPHA:488642
Pallister-Hall Syndrome
Posteriorly rotated ears, Radial head subluxation, Hip dislocation, Microtia, Atresia of the exte... OMIM:146510
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis OMIM:615911
Mucopolysaccharidosis Type 2
Otosclerosis, Papilledema, Decreased nerve conduction velocity, Sensorineural hearing impairment,... ORPHA:580
Witteveen-Kolk Syndrome
Branchial fistula, Unilateral cryptorchidism, Decreased response to growth hormone stimulation te... OMIM:613406
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pheochromocytoma, Hepatic hemangioma, Paraganglioma OMIM:193300
17Q12 Microdeletion Syndrome
Cryptorchidism, Diabetes mellitus, Pancreatic aplasia ORPHA:261265
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology OMIM:614298
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Osteomalacia, Pneumonia, Recurrent skin infections, Gastritis, Bronchie... OMIM:619381
Fraser Syndrome 1
Abnormal pinna morphology, Cupped ear, Atresia of the external auditory canal, Low-set ears, Cond... OMIM:219000
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Papilledema, Camptodactyly of finger, Sensorineural hearing impairment, Flexion con... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Papilledema, Camptodactyly of finger, Sensorineural hearing impairment, Flexion con... ORPHA:217093
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Exocrine pancreatic insufficiency, High palate, Neonatal death, Type I diabet... OMIM:618500
Cornelia De Lange Syndrome
Low-set, posteriorly rotated ears, Joint stiffness, Elbow dislocation, Sensorineural hearing impa... ORPHA:199
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, High palate, Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia ORPHA:556955
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Branc... OMIM:164210
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... ORPHA:731
Fraser Syndrome
Low-set, posteriorly rotated ears, External ear malformation, Atresia of the external auditory ca... ORPHA:2052
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Syringomyelia, Myelitis ORPHA:1320
Doors Syndrome
Polyhydramnios, Sagittal craniosynostosis, Optic atrophy, EEG abnormality, Atresia of the externa... ORPHA:79500
Pallister-Hall Syndrome
Low-set, posteriorly rotated ears, Radial head subluxation, Hip dislocation, Microtia, Distal art... ORPHA:672
Bladder Exstrophy
Umbilical hernia, Intestinal malrotation, Abnormality of the anus 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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