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Gene: Nell1 MGI:2443902

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Gene Summary

Name:
NEL-like 1
Synonyms:
l7R6,  B230343H07Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal vitreous body morphology Nell1em1(IMPC)Mbp HOM   Early adult 3.28×10-05
small kidney Nell1em1(IMPC)Mbp HOM Early adult 0.00
decreased mean corpuscular hemoglobin Nell1em1(IMPC)Mbp HOM Early adult 2.88×10-09
cataract Nell1em1(IMPC)Mbp HOM   Early adult 3.10×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Nell1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Nell1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Joint laxity, Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial inst... OMIM:600561
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Depressed nasal bridge... OMIM:313420
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Spinal rigidity, Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in ... OMIM:300717
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Pyknoachondrogenesis
Stillbirth OMIM:265880
Congenital Arthrogryposis With Anterior Horn Cell Disease
Microcephaly, Micrognathia, Kyphosis, Short neck, Respiratory insufficiency due to muscle weaknes... OMIM:611890
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Anteverted nares, Micrognathia, Microcephaly, Short neck, Dyspnea, Depresse... ORPHA:1832
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Cataract 42
Cataract, Developmental cataract OMIM:115900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Micrognathia, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Elbow flex... ORPHA:75840
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria, Cataract OMIM:619813
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Metatropic Dysplasia
Relatively short spine, Enlarged joints, Depressed nasal bridge, Kyphoscoliosis, Abnormal enchond... OMIM:156530
Trichomegaly
Cataract OMIM:190330
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Limite... ORPHA:266
Nathalie Syndrome
Cataract ORPHA:2663
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Hyperekplexia 4
Kyphoscoliosis, Flexion contracture, Respiratory failure, Distal arthrogryposis, Camptodactyly OMIM:618011
Congenital Muscular Dystrophy With Intellectual Disability
Neuropathic spinal arthropathy, Multiple joint contractures, Microcephaly, Hip dislocation, Respi... ORPHA:370968
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Restrictive ventilatory... OMIM:614399
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory failur... ORPHA:2590
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Mitochondrial Complex I Deficiency, Nuclear Type 18
Wide anterior fontanel, Respiratory failure, Death in infancy OMIM:618240
Pontocerebellar Hypoplasia, Type 1C
Joint contracture, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Sacral dimple, Multiple joint contractures, Congenital hip dislocation, Micrognath... OMIM:618291
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Muscular Dystrophy, Congenital, 1B
Achilles tendon contracture, Respiratory failure, Spinal rigidity OMIM:604801
Congenital Myopathy 14
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... OMIM:618414
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Decreased hip abduction, Abnormal acet... ORPHA:93311
Vacterl Association With Hydrocephalus
Radial club hand, Respiratory insufficiency, Respiratory failure, Abnormality of the vertebral co... OMIM:276950
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Stage 5 chronic kidney disease OMIM:615995
Galactosemia Iv
Cataract OMIM:618881
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Microcephaly, Kyphosis, Achilles tendon contr... OMIM:606612
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Choanal atresia, Dyspnea, Hemivertebrae, Wide nasal bridge, Abnormal form o... ORPHA:2759
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Congenital contracture, Respiratory failure, Microcephaly OMIM:225753
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Coats Disease
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology ORPHA:190
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Flexion contracture OMIM:615348
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Depressed nasal bridge, Wide anterior ... OMIM:616482
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Respiratory failure, Aspirat... ORPHA:90117
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Glycine Encephalopathy With Normal Serum Glycine
Joint laxity, Hip contracture, Exaggerated startle response, Anteverted nares, Depressed nasal br... OMIM:617301
Alg1-Cdg
Kyphosis, Limitation of joint mobility, Respiratory failure, Scoliosis, Progressive microcephaly ORPHA:79327
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration OMIM:614292
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Microcephaly, Micrognathia, Flexion contracture, Respiratory insufficienc... OMIM:618186
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Anteverted nares, Tremor, Bulbous nose, Flexion contracture, Respiratory failure, Scoliosis, Inte... OMIM:616505
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... OMIM:619773
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract OMIM:613801
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Retinal pigment epithelial atr... OMIM:143200
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Pyruvate Dehydrogenase E1-Alpha Deficiency
Anteverted nares, Microcephaly, Tremor, Flared nostrils, Wide nasal bridge, Apneic episodes preci... OMIM:312170
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Sandestig-Stefanova Syndrome
Prominent metopic ridge, Short neck, Wide nasal bridge, Respiratory failure, Camptodactyly, Prima... OMIM:618804
Hypophosphatasia, Adult
Arthropathy, Recurrent fractures, Osteomalacia, Carious teeth, Rickets, Increased susceptibility ... OMIM:146300
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata OMIM:193230
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity ORPHA:90654
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Microcephaly, Wide nasal bridge, Respiratory insufficiency, Respiratory failure, Neonatal ... OMIM:610127
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Multiple Mitochondrial Dysfunctions Syndrome 3
Microcephaly, Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenita,... OMIM:615330
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Posterior embryotoxon, I... ORPHA:1473
Muscular Dystrophy, Duchenne Type
Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Achilles tendon... OMIM:310200
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy OMIM:180104
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Spinal rigidity, Microcephaly, Kyphosis, Dyspnea, Respiratory ins... ORPHA:352447
Retinitis Pigmentosa 84
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma OMIM:618220
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Depressed nasal bridge, Osteomalacia, Micrognathia, Joint stiffnes... ORPHA:1901
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea, Dystonia OMIM:616277
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibil... OMIM:166220
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Restrictive ventilatory defect, Respi... ORPHA:98913
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Hyperlordosis, Reduced forced vital capacity, Achilles tendon contracture, Kne... OMIM:620249
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Mandibular prognathia, Respiratory distress, Thoracic scoliosis, Death in infancy, Knee contractu... OMIM:620278
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Retinitis Pigmentosa 4
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy OMIM:613731
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Respiratory failure OMIM:618637
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Radio-Renal Syndrome
Respiratory distress, Depressed nasal bridge, Micrognathia, Short neck, Dyspnea, Abnormality of t... ORPHA:3015
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Multiple Acyl-Coa Dehydrogenase Deficiency
Depressed nasal bridge, Hyperlordosis, Wide anterior fontanel, Dyspnea, Cardiorespiratory arrest,... ORPHA:26791
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Camptodactyly of finger, Microcephaly, Flexion contracture, Respiratory failure... ORPHA:1194
Hypocalcemic Vitamin D-Resistant Rickets
Joint dislocation, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Abnormal... ORPHA:93160
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo... OMIM:613673
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Respiratory insuffic... ORPHA:70
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Respiratory fail... OMIM:616867
Intermediate Nemaline Myopathy
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Respiratory failure, Flexion con... ORPHA:171433
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Dystonia, Congenital hip dislocation, Microgn... ORPHA:496641
Sillence Syndrome
Back pain, Flat acetabular roof, Platyspondyly, Scoliosis, Camptodactyly, Abnormal vertebral morp... ORPHA:3168
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Sc... OMIM:118650
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Cone-Rod Dystrophy 16
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Macular atrophy OMIM:614500
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Microcephaly, Wide nasal bridge, Respiratory failure ORPHA:168486
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Chronic kidney disease, Stage 5 chronic kidney dis... ORPHA:3156
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Arthrogryposis multipl... OMIM:619334
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma OMIM:120433
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... OMIM:120200
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Pontocerebellar Hypoplasia Type 1
Arthrogryposis multiplex congenita, Respiratory failure, Progressive microcephaly, Congenital lar... ORPHA:2254
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Genu varum, Genu valgum, Sparse bone trabeculae, Genera... OMIM:600785
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy OMIM:613835
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation, Spinal rigidity OMIM:620326
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O... ORPHA:289176
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Enlargement of the ankles, Recurrent fractures, Carious teeth, Delayed... OMIM:277440
Congenital Multicore Myopathy With External Ophthalmoplegia
Joint laxity, Pneumonia, Flexion contracture, Abnormal respiratory system physiology, Respiratory... ORPHA:98905
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Congenital hip dislocation, Kyphoscoliosis, Hyperlordosis, Micrognathia, Ankle f... ORPHA:2020
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... ORPHA:93357
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ... OMIM:608647
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Scedosporiosis
Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Osteomyelitis, Pneumonia, Abnormal respi... ORPHA:449280
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... ORPHA:2302
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Scoliosis, Intercostal muscle weakness OMIM:606071
Proximal Myotonic Myopathy
Cataract ORPHA:606
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Tremor, Kyphosis, Respiratory insufficiency due to muscle... OMIM:615512
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Spinal canal stenosis, Genu val... OMIM:307800
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Stickler Syndrome, Type V
Retinal detachment, Cataract OMIM:614284
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Cataract, Hypospadias ORPHA:1381
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Abnormality of the temporomandibular joint, Hyperlordosis, Flexion contracture, ... ORPHA:258
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Knee osteoarthritis, Scoliosis, Intervertebral disc degeneration OMIM:619656
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Respiratory failure, Micrognathia OMIM:607598
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Tachypnea, Respiratory failur... OMIM:263000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal oss... OMIM:264700
Peroxisome Biogenesis Disorder 4A (Zellweger)
Epiphyseal stippling, Respiratory failure, Depressed nasal bridge, Death in infancy OMIM:614862
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Micrognathia, Microcephaly, Cranial hyperostosis, Respiratory fai... OMIM:259720
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Microcephaly, Micrognathia, Trismus, Flexion contracture, Depressed nas... ORPHA:2671
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Generalized dystonia ORPHA:70472
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Delayed... ORPHA:289157
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Camptodactyly of finger, Tachypnea, Respiratory failure, Inspiratory stridor, Ventilator dependen... OMIM:604320
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Dystonia OMIM:256000
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Vestibular areflexia, Respiratory failure, Osteopetrosis, Dystonia ORPHA:3240
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Fibrous Dysplasia Of Bone
Abnormality of the cervical spine, Thin bony cortex, Osteomalacia, Fibrous dysplasia of the bones... ORPHA:249
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enlargement of t... OMIM:600081
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Osteomalacia,... ORPHA:2636
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Respiratory failure, Limb dystonia ORPHA:363400
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Depressed nasal bridge, Elbow contracture, Kyphoscoliosis, Micrognath... OMIM:304120
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short neck, Flexion contracture, ... ORPHA:96334
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Opisthotonus, Respiratory failure, Neonatal death, P... OMIM:605711
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita... ORPHA:89936
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure, Microcephaly, Opisthotonus OMIM:610678
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma OMIM:212550
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Craniosyno... ORPHA:284984
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enlargement of t... OMIM:241530
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Optic atro... OMIM:222300
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Flexion contracture of finger, Depressed nasal bridge, Anteverted nares, Flexion co... ORPHA:254528
Geleophysic Dysplasia 3
Depressed nasal bridge, Anteverted nares, Limited elbow movement, Limited wrist movement, Pneumon... OMIM:617809
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Ankle clonus, Respiratory failure OMIM:613954
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Micrognathia, Microcephaly, Dyspnea, Respiratory failure, Retrognathia ORPHA:2707
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Microcephaly, Bulbous nose, Elbow flexion... OMIM:608836
Spinocerebellar Ataxia Type 1
Respiratory failure, Postural tremor, Dystonia ORPHA:98755
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En... OMIM:300554
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency, Microcephaly OMIM:609981
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Microcephaly, Opisthotonus, Death in childhood, Respiratory failure, Limb dystonia, Primary micro... OMIM:619847
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Microcephaly, Tachypnea, Rickets, Respiratory insufficiency, Reduced bo... OMIM:613658
Arterial Tortuosity Syndrome
Respiratory distress, Craniosynostosis, Dyspnea, Hip dislocation, Cardiorespiratory arrest, Joint... ORPHA:3342
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Aniridia 3
Aniridia, Cataract OMIM:617142
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... OMIM:265120
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Limb joint contracture, Respiratory failure OMIM:620327
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Nasal polyposis, Productive cough, Wheezing, Bronchiectasis, Nasal... ORPHA:244
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Wheezing, Rickets, Epistaxis OMIM:211600
Myhre Syndrome
Mandibular prognathia, Vertebral fusion, Prominent nasal bridge, Microcephaly, Hypoplasia of the ... OMIM:139210
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Tooth abscess ORPHA:89937
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Death in infancy, Anteverted nares, Depressed nasal bridge, Micrognathia, Microc... OMIM:300868
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, Craniosynostosis, Micrognathia, Hypoplasia of the ... ORPHA:2554
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... OMIM:203780
Infantile Systemic Hyalinosis
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Short ne... ORPHA:2176
Costello Syndrome
Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Limited elbow ... OMIM:218040
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Death in childhood, Death in adolescence, Osteoporosis, Rickets OMIM:560000
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Exudative Vitreoretinopathy 6
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,... OMIM:616468
Isolated Arrhinia
Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplas... ORPHA:1134
Mccune-Albright Syndrome
Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Dental malocclusion, Nasal con... ORPHA:562
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness,... ORPHA:365
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Respiratory failure, Flexion con... ORPHA:171430
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Micrognathia, Limitation of joint mobilit... ORPHA:79474
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... OMIM:609049
Mercury Poisoning
Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, Dystonia ORPHA:330021
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Tremor, Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Scrotal hypospadias, Micropenis, Hypospadias OMIM:250790
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Snakebite Envenomation
Respiratory failure, Respiratory paralysis, Epistaxis ORPHA:449285
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Dent Disease 1
Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En... OMIM:300009
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Depressed nasal bridge OMIM:617895
Papillorenal Syndrome
Retinal detachment, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence o... OMIM:120330
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Interstitial pneumonitis, Restrictive ventilatory defect, Respiratory failure, Recurrent upper re... OMIM:620296
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Opisthotonus, Choreoathetosis, Respiratory failure, Primary microcephaly ORPHA:445038
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Dystonia, Respiratory insufficiency, Respiratory... OMIM:607625
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Microcephaly, Asthma, Recurrent pneumonia, C... ORPHA:209905
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Riddle Syndrome
Pneumonia, Microcephaly, Neonatal asphyxia, Recurrent pneumonia, Arthritis, Restrictive ventilato... ORPHA:420741
Loeys-Dietz Syndrome 3
Joint laxity, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Knee osteoarthritis, Dental ... OMIM:613795
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... OMIM:268315
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Kyphosis, Osteoporosis, Rickets, Osteolysis, Abnormality of the sense o... ORPHA:198
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Infantile Krabbe Disease
Ankle clonus, Respiratory failure, Respiratory distress, Opisthotonus ORPHA:206436
Hypercholanemia, Familial 1
Rickets OMIM:607748
Nijmegen Breakage Syndrome
Depressed nasal bridge, Prominent nasal bridge, Prominent nose, Microcephaly, Short neck, Recurre... ORPHA:647
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... ORPHA:263479
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets OMIM:613388
Listeriosis
Back pain, Respiratory distress, Stiff neck, Osteomyelitis, Pneumonia, Miscarriage, Tremor, Respi... ORPHA:533
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density ORPHA:157215
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Depressed nasal ridge ORPHA:1861
Leigh Syndrome
Multiple joint contractures, Choreoathetosis, Athetosis, Respiratory failure, Dystonia, Abnormal ... ORPHA:506
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Delayed eruption of teeth, Death in infancy, Abnormal dental enamel morpho... ORPHA:534
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Tremor, Hypopnea, Respiratory failure, Secondary microcephaly, Dystonia,... OMIM:617248
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Lowe Oculocerebrorenal Syndrome
Osteomalacia, Camptodactyly of finger, Wrist swelling, Kyphosis, Rickets, Hip dislocation, Genu v... OMIM:309000
Hartsfield Syndrome
Craniosynostosis, Wide nose, Hypoplasia of the frontal bone, Microcephaly OMIM:615465
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Natal tooth, Respiratory failure ORPHA:158687
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Tremor, Dyspnea, Respiratory insufficiency, Death in childhood, Respiratory fai... OMIM:610505
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, HbH hemoglobin, Microcytic anemia ORPHA:98791
Digeorge Syndrome
Pilonidal sinus, Micrognathia, Microcephaly, Asthma, Chronic pulmonary obstruction, Recurrent pne... OMIM:188400
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,... ORPHA:306542
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Abetalipoproteinemia
Osteopenia, Respiratory failure, Kyphoscoliosis ORPHA:14
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... OMIM:106210
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Developmental g... ORPHA:124
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets OMIM:611590
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Titubation ORPHA:280210
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Oculoauricular Syndrome
Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste... OMIM:612109
Boutonneuse Fever
Respiratory failure ORPHA:83313
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure, Microcephaly ORPHA:88618
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Depressed nasal bridge, Kyphoscoliosis, Sagittal craniosynostosis, Hypoplas... ORPHA:500150
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Ulbright-Hodes Syndrome
Respiratory distress, Depressed nasal bridge, Micrognathia, Short neck, Humeroradial synostosis, ... ORPHA:3404
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure, Stiff neck ORPHA:2912
Isolated Exencephaly
Depressed nasal bridge, Hypoplasia of the frontal bone ORPHA:563612
Dent Disease
Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En... ORPHA:1652
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Osteoporosis, Rickets OMIM:212750
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Wide nose, Sacral dimple, Abnormal dental enamel morphology, Micrognathia, ... ORPHA:2556
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism OMIM:619769
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Secondary microcephaly, Respiratory insufficiency OMIM:618329
Wilson Disease
Limb dystonia, Osteomalacia, Tremor, Osteoarthritis, Osteoporosis, Hand tremor, Dystonia, Hyposmi... OMIM:277900
Cystinosis
Rickets ORPHA:213
Atelis Syndrome 2
Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia, Developmental cataract OMIM:620185
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, HbH hemoglobin, Macular coloboma ORPHA:423479
Bloom Syndrome
Pneumonia, Micrognathia, Chronic pulmonary obstruction, Respiratory failure, Rhinitis, Retrognathia ORPHA:125
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Short nose, Hypoplasia of the ... OMIM:229400
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Osteoporosis, Stridor, Respiratory failur... ORPHA:79404
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Fraser Syndrome 2
Wide nose, Short neck, Respiratory failure, Underdeveloped nasal alae OMIM:617666
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Nephrocalcinosis, Persistence of hemoglob... OMIM:260400
Hemorrhagic Fever-Renal Syndrome
Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur... ORPHA:340
Congenital Bile Acid Synthesis Defect Type 2
Rickets ORPHA:79303
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Nocardiosis
Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, P... ORPHA:31204
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Tachypnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:618278
Fanconi-Bickel Syndrome
Osteopenia, Rickets ORPHA:2088
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Apnea, Microcephaly, Respiratory insufficiency, Respiratory failure OMIM:252010
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Abnormal hemoglobin, Optic atrophy, Hydronephrosis, Anemia ORPHA:847
Thymoma
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leuk... ORPHA:99867
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Lead Poisoning
Chronic kidney disease, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Renal tubula... ORPHA:330015
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Chondrocalcinosis OMIM:600740
Distal Renal Tubular Acidosis
Osteomalacia, Respiratory insufficiency due to muscle weakness, Rickets, Increased susceptibility... ORPHA:18
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Primary congenital glaucoma, Reticulocytopenia,... OMIM:105650
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micropenis, HbH h... OMIM:301040
Joubert Syndrome 21
Apnea, Dyspnea, Single naris, Respiratory failure, Chronic sinusitis OMIM:615636
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure ORPHA:679
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Fanconi-Bickel Syndrome
Rickets, Osteomalacia OMIM:227810
Niemann-Pick Disease Type C
Axial dystonia, Limb dystonia, Tremor, Respiratory insufficiency, Respiratory failure, Aspiration... ORPHA:646
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... ORPHA:79138
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Micrognathia, Recurrent pneumonia, Depressed nasal rid... ORPHA:731
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Generalized Arterial Calcification Of Infancy
Respiratory distress, Abnormality of the knee, Calcification of the auricular cartilage, Osteomal... ORPHA:51608
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract ORPHA:637
Steinert Myotonic Dystrophy
Respiratory insufficiency due to muscle weakness, Respiratory failure requiring assisted ventilat... ORPHA:273
Neuroocular Syndrome
Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... OMIM:619539
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Infantile Nephropathic Cystinosis
Rickets ORPHA:411629
Familial Hypocalciuric Hypercalcemia
Osteomalacia, Chondrocalcinosis ORPHA:405
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Osteomalacia, Pneumonia, Bronchiectasis, Arthritis, Joint swelling OMIM:619381
Cystinosis, Nephropathic
Hypophosphatemic rickets, Rickets, Genu valgum OMIM:219800
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure ORPHA:805
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Developmental cataract,... OMIM:300166
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures ORPHA:3337
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Iris coloboma OMIM:157170

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 Nell1

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 Nell1.

No publications found that use IMPC mice or data for Nell1.

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MGI Allele Allele Type Produced
Nell1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Nell1tm43045(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Nell1tm43045(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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