Gene Summary

GDNF-inducible zinc finger protein 1
8430437G08Rik,  Zfp336

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
increased total body fat amount Gzf1em1(IMPC)Tcp HOM Early adult 4.07×10-05
abnormal auditory brainstem response Gzf1em1(IMPC)Tcp HOM   Early adult 0.0340
decreased circulating alkaline phosphatase level Gzf1em1(IMPC)Tcp HET Early adult 5.96×10-05
decreased circulating alkaline phosphatase level Gzf1em1(IMPC)Tcp HOM Early adult 2.98×10-06
decreased circulating total protein level Gzf1em1(IMPC)Tcp HOM Early adult 7.14×10-05
abnormal eye morphology Gzf1em1(IMPC)Tcp HOM Early adult 0.00
decreased lean body mass Gzf1em1(IMPC)Tcp HOM Early adult 4.69×10-05
preweaning lethality, incomplete penetrance Gzf1em1(IMPC)Tcp HOM   Early adult 0.00
abnormal skin morphology Gzf1em1(IMPC)Tcp HOM Early adult 0.00
short tibia Gzf1em1(IMPC)Tcp HOM Early adult 0.00
decreased mean corpuscular volume Gzf1em1(IMPC)Tcp HET Early adult 1.25×10-07
abnormal bone structure Gzf1em1(IMPC)Tcp HOM Early adult 8.29×10-05
abnormal lens morphology Gzf1em1(IMPC)Tcp HET Early adult 3.87×10-07
eye hemorrhage Gzf1em1(IMPC)Tcp HOM   Early adult 8.71×10-05
abnormal heartbeat Gzf1em1(IMPC)Tcp HOM   Early adult 7.79×10-05
cataract Gzf1em1(IMPC)Tcp HET Early adult 3.77×10-07

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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.


XRay Images Skull Lateral Orientation

18 Images

Eye Morphology

Images Ophthalmoscopy

145 Images

Eye Morphology

Images Slit Lamp

138 Images


XRay Images Whole Body Lateral Orientation

18 Images


XRay Images Skull Dorso Ventral Orientation

18 Images


XRay Images Whole Body Dorso Ventral

18 Images

Gross Pathology and Tissue Collection


16 Images

Electrocardiogram (ECG)

Waveform Image

6 Images

Human diseases caused by Gzf1 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 Gzf1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Joint Laxity, Short Stature, And Myopia
Iris coloboma OMIM:617662

The table below shows human diseases predicted to be associated to Gzf1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione... OMIM:618660
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration ORPHA:254704
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract OMIM:190330
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Decreased HDL cholesterol concentration, Cataract OMIM:618463
Nathalie Syndrome
Cataract ORPHA:2663
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
X-Linked Retinoschisis
Cataract ORPHA:792
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Sensorineural hearing impairment, Hypoproteinemia OMIM:221400
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Epistaxis, Cerebral hemorrhag... ORPHA:3002
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Intrinsic Factor Deficiency
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... OMIM:261000
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Obesity, Hypoalbuminemia, Lipodystrophy, Low pulse pressure, Inc... ORPHA:86816
Dengue Fever
Gastrointestinal hemorrhage, Petechiae, Hypoproteinemia, Gingival bleeding, Hypotension, Epistaxi... ORPHA:99828
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypocalcemia, Hypoproteinemia, Increased circulating free fatty acid level... ORPHA:26793
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal bleeding, Hypoproteinemia, Clinodactyly of the 5th finger ORPHA:1116
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Lymphangiectasia, Intestinal
Stillbirth, Neonatal hypoproteinemia, Pedal edema OMIM:152800
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Abnormal transferrin saturation, Anterior subcapsular cataract,... OMIM:600886
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Elevated circulating creatine kinase concentration OMIM:609115
Immunodeficiency 43
Hypoplasia of the ulna, Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Radial... OMIM:241600
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Cataract 47
Cataract, Microcornea OMIM:612018
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal bleeding, Hypoproteinemia OMIM:207731
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Congenital Disorder Of Glycosylation, Type Ij
Clinodactyly of the 5th finger, Hypsarrhythmia, Hypoproteinemia, Micrognathia, Flexion contracture OMIM:608093
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Hypoproteinemia, Weight loss ORPHA:2494
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Clubbing of fingers, Clubbing, Hypoproteinemia, Budd-Chiari syndrome, Hypoalbuminemia, Pulmonary ... OMIM:226300
Osteopenia, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Craniosynostosis... ORPHA:356961
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Hemophagocytic Lymphohistiocytosis, Familial, 1
Prolonged prothrombin time, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increa... OMIM:267700
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Tal... OMIM:601382
Nathalie Syndrome
Cataract OMIM:255990
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypomagnesemia, Hypophosphatemia, Weight loss, Hypoa... ORPHA:398063
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura, Pulmonary embolism OMIM:612304
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia, Small for gestational age OMIM:256300
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Cardiomyopathy, Dilated, 1Ii
Cataract, Elevated circulating creatine kinase concentration OMIM:615184
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Hypoproteinemia OMIM:260450
Proximal Myotonic Myopathy
Cataract ORPHA:606
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Eiken Syndrome
Fibular hypoplasia, Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal acetabu... ORPHA:79106
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Hypoproteinemia, Cardiomyopathy, Elevated circulating creatine kinase c... OMIM:615895
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Facial palsy, Absent brainstem audit... OMIM:617519
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate... ORPHA:247585
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Hemophagocytic Lymphohistiocytosis, Familial, 2
Prolonged prothrombin time, Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Fai... OMIM:603553
Retinopathy Of Prematurity
Vitreous hemorrhage, Small for gestational age ORPHA:90050
Cataract 3, Multiple Types
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract OMIM:601547
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Low-set ears, Micrognath... OMIM:201170
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir... ORPHA:766
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Abnormal au... OMIM:601559
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Osteolysis involving bones o... ORPHA:464321
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Cataract 17, Multiple Types
Nuclear cataract, Developmental cataract, Pulverulent cataract, Microcornea OMIM:611544
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, EEG with burst suppression, Elevated circulating creatine ki... OMIM:615368
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Hypocalcemia, Hypoproteinemia, Postaxial hand polydactyly, Low-set ears, Microgn... OMIM:235255
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal bleeding, Epidural hemorrhage, Abnormal femur morphology, F... ORPHA:464329
Retinitis Pigmentosa 40
Cataract OMIM:613801
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Weight loss, Hypoalbuminemia ORPHA:90362
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Hypocalcemia, Sensorineural hearing impairment,... OMIM:607143
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Microcephaly-Micromelia Syndrome
Oligodactyly, Low-set ears, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosi... OMIM:251230
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Johanson-Blizzard Syndrome
Failure to thrive, Sensorineural hearing impairment, Hypoproteinemia ORPHA:2315
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Autosomal Recessive Spastic Paraplegia Type 44
Pes cavus, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of ... ORPHA:320401
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract, Elevated circulating creatine kinase concentration OMIM:615352
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Microcornea, Developmental cataract, Nuclear c... OMIM:604307
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Hypocalcemia, Hypoproteinemia, Postaxial hand polydactyly, Low-set ears, Microgn... ORPHA:1655
Ravine Syndrome
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials ORPHA:99852
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim... OMIM:600785
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Orofaciodigital Syndrome Iv
Short finger, Low-set ears, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognath... OMIM:258860
Microphthalmia With Limb Anomalies
Sandal gap, Short long bone, Tibial bowing, Broad thumb, Hip dislocation, Optic atrophy, Fibular ... ORPHA:1106
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Tric... OMIM:620306
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral ... OMIM:620076
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Hyperkalemia, Melena, Petechiae, Capillary leak, Hypertension, Decreased body weight... ORPHA:340
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto... OMIM:185000
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Abnormal bleeding, Decreased nerve conduction velocity, Hypoproteinemia, Gi... ORPHA:167
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Vasculitis, Vasculitis in the skin, Failur... OMIM:617718
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorr... ORPHA:99827
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Galactose Mutarotase Deficiency
Cataract, Hypergalactosemia ORPHA:570422
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Elevated circulating creatine kinase concentration, Retinal hemorrha... OMIM:611773
Hemochromatosis, Type 4
Elevated transferrin saturation, Increased circulating ferritin concentration, Anemia, Cataract OMIM:606069
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Elevated circulating C-reactive protein concentration, Bradycardia, Hypoten... ORPHA:319213
Aniridia 3
Cataract, Aniridia OMIM:617142
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Charcot-Marie-Tooth Disease, Type 4D
Pes cavus, Decreased nerve conduction velocity, Hammertoe, Claw hand deformity, Sensorineural hea... OMIM:601455
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Cataract 48
Cataract OMIM:618415
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, U... OMIM:616300
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Abnormal bleeding, Hypokalemia, Bradycardia, Petechiae, Capillary lea... ORPHA:99826
Omenn Syndrome
Failure to thrive, Hypoproteinemia OMIM:603554
Congenital Varicella Syndrome
Cataract ORPHA:291
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Exudative Vitreoretinopathy 4
Vitreous hemorrhage, Osteopenia OMIM:601813
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Hypoalbuminemia, Thrombocytopeni... OMIM:617021
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Clubbing of fingers, Spontaneous, recurrent epistaxis, Hypoproteinem... ORPHA:2929
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
3-Methylglutaconic Aciduria Type 4
Cataract, Iris hypopigmentation, Thrombocytopenia ORPHA:67048
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Pes cavus, Temporal optic disc pallor, Sensorineural hearing impairment, Cardiomyo... ORPHA:1215
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 41
Nuclear cataract OMIM:116400
Gaisböck Syndrome
Hypertriglyceridemia, Elevated diastolic blood pressure, Hyperuricemia, Angina pectoris, Hyperten... ORPHA:90041
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di... ORPHA:166016
Retinitis Pigmentosa 9
Cataract OMIM:180104
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Flexion contracture of toe, Wrist flexion contracture, Flexion contracture of... OMIM:193700
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Reduced bone mineral density, Abnormal optic disc morphology, Hearing imp... ORPHA:891
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Charcot-Marie-Tooth Disease, Type 4C
Pes cavus, Delayed brainstem auditory evoked response conduction time, Hammertoe, Abnormal crania... OMIM:601596
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy, Hyperamylasemia, Hypokalemia OMIM:604278
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Hypoalbuminemia, Microcytic anemia OMIM:618805
Abcd Syndrome
Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis, Abnormal audito... OMIM:600501
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa... ORPHA:232
Femoral-Facial Syndrome
Abnormal fibula morphology, Inguinal hernia, Microtia, Low-set ears, Abnormal pelvic girdle bone ... ORPHA:1988
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Corneal opacity, Iris coloboma ORPHA:1473
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Posterior retinal neovascularization, Peripheral retinal neovascularization OMIM:193235
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Edict Syndrome
Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris OMIM:614303
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Hypocalcemia, Enlargement of the ankles... OMIM:600081
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Cataract 30, Multiple Types
Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract OMIM:116300
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Hyperproteinemia, Hypotension, Retinal hemorrhage, Pericarditis, Papilledema, Subconjunctival hem... ORPHA:509
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Stillbirth, Patellar hypoplasia, Low-set ears, Absent tibia, Bilateral talipes equinovarus, Mirro... OMIM:119800
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Galactosemia I
Increased level of galactitol in red blood cells, Increased level of galactitol in plasma, Hyperg... OMIM:230400
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Microtia... ORPHA:96334
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Cataract OMIM:146200
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ... ORPHA:56305
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization, Rickets, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped... OMIM:307800
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, A... OMIM:617925
Liver Disease, Severe Congenital
Recurrent otitis media, Inguinal hernia, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyper... OMIM:619991
Eales Disease
Ischemic stroke, Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vit... ORPHA:40923
Pierson Syndrome
Hypertension, Hypoproteinemia, Retinal hemorrhage OMIM:609049
Cataract 15, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Cataract OMIM:620425
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
Refractory Anemia With Excess Blasts
Abnormal bleeding, Abnormal circulating albumin concentration, Abnormal circulating protein conce... ORPHA:86839
Occipital Horn Syndrome
Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Keloids, Aplastic clavicle, Co... ORPHA:198
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Broad finger, Abnormal auditory evoked potentials, Optic... OMIM:617523
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Orofaciodigital Syndrome Type 2
Protruding ear, Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger s... ORPHA:2751
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Retinitis Pigmentosa 84
Cataract OMIM:618220
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Lens subluxation, Cataract ORPHA:171844
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... OMIM:613091
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane... OMIM:277410
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Coxa valga, Hip dislocation OMIM:109120
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:300554
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Omodysplasia 1
Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Limit... OMIM:258315
Cataract 16, Multiple Types
Lenticonus, Developmental cataract, Posterior polar cataract OMIM:613763
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscular volume, Hypometh... ORPHA:2169
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Periosteal thickening of lon... OMIM:114000
Multiple Myeloma
Osteopenia, Hypercalcemia, Weight loss, Hyperproteinemia, Elevated circulating creatinine concent... ORPHA:29073
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor... OMIM:263520
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529799
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Aplasia/Hypop... ORPHA:3320
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Irregular epiphyses, Optic disc pallor, Abnormal auditory evoke... OMIM:619260
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Cockayne Syndrome B
Optic atrophy, Square pelvis bone, Severe failure to thrive, Decreased nerve conduction velocity,... OMIM:133540
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hammertoe, Hypsarrhythmia, Decreased body weight, Tricuspid regurgitation, Retinal hemorrhage, Po... OMIM:620371
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Optic disc drusen, Hypert... OMIM:264800
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Cockayne Syndrome Type 1
Optic atrophy, Scarring, Foot joint contracture, Hypertension, Absent brainstem auditory response... ORPHA:90321
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Optic nerve hypoplasia, Low-set ears, Midline central nervous system lipomas... OMIM:603671
Diamond-Blackfan Anemia
Developmental glaucoma, Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, N... ORPHA:124
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Mend Syndrome
2-3 toe syndactyly, Abnormal auditory evoked potentials, Low-set ears, Aortic valve stenosis, Fai... ORPHA:401973
Late-Infantile/Juvenile Krabbe Disease
Pes cavus, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction... ORPHA:206443
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Atelis Syndrome 2
Protruding ear, Low-set ears, Supravalvar pulmonary stenosis, Pulmonic stenosis, Micrognathia, Vi... OMIM:620185
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Cockayne Syndrome A
Optic atrophy, Square pelvis bone, Decreased nerve conduction velocity, Hypoplastic iliac wing, S... OMIM:216400
Fibrochondrogenesis 1
Narrow greater sciatic notch, Abnormal pinna morphology, Short ribs, Short long bone, Hypoplastic... OMIM:228520
Fetal Cytomegalovirus Syndrome
Optic atrophy, Petechiae, Sensorineural hearing impairment, Retinal hemorrhage, Conjugated hyperb... ORPHA:294
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Hyphema, Subretinal pigment epithelium hemorrhage, Cellulitis, Vitreous hemorrhage ORPHA:790
Bone Marrow Failure Syndrome 3
Aplastic anemia, Astigmatism, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpus... OMIM:617052
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion, Decreased proportion of class-switched memory B cells OMIM:614878
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Norrie Disease
Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar... OMIM:310600
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Buphthalmos, Corneal scarring, Iris coloboma OMIM:212550
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Splenomegaly, Conjugated hyperbilirubinemia, Cataract, Stomatocytosis, Nuclear cata... OMIM:608885
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Trisomy 10P
Abnormal foot morphology, Ulnar deviated club hands, EEG with burst suppression, Low voltage EEG,... ORPHA:171929
Cerebrotendinous Xanthomatosis
Optic atrophy, Pes cavus, Osteopenia, Abnormal femur morphology, Abnormal tibia morphology, Decre... ORPHA:909
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Failure to thrive, Delayed brainstem auditory evoked response conduction time, Joi... OMIM:616881
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Congenital diaphragmatic hernia, Low-set, poste... ORPHA:958
Familial Isolated Hypoparathyroidism
Hypocalcemia, Cataract ORPHA:2238
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Abnormal subcutaneous fat tissue distribution, Inguinal hernia, Subretinal pigment epithelium hem... ORPHA:357074
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Buphthalmos, Elevated circulating creatine kinase concentration ORPHA:370997
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ... OMIM:164900
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Anemia, Increased serum bile acid concentration, Macrocytic a... ORPHA:811
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Increased circulating ferritin concentration, Hyperproteinemia ORPHA:158048
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly OMIM:620367
Waldenström Macroglobulinemia
Congestive heart failure, Gastrointestinal hemorrhage, Purpura, Vasculitis, Gingival bleeding, Re... ORPHA:33226
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Restrictive cardiomyopathy, Retinal h... ORPHA:758
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Microtia, Abnormal pelvic girdle bone morphology, Finger a... ORPHA:1788
Charcot-Marie-Tooth Disease Type 1F
Pes cavus, Distal lower limb muscle weakness, Decreased nerve conduction velocity, Sensorineural ... ORPHA:101085
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul... OMIM:106210
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Astigmatism, Thrombocytopenia ORPHA:261250
Omodysplasia 2
Fibular hypoplasia, Recurrent otitis media, Clinodactyly of the 5th finger, Dislocated radial hea... OMIM:164745
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Pulmonary insufficiency, Fibular hypoplasia, Irregular epiphyses, Early o... OMIM:208500
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Low-set ears, Corneal scarring, Retinal hemorrhage, Hand clenching, Fl... OMIM:614653
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Ifap Syndrome 2
Cataract, Keratitis, Keratoconjunctivitis sicca OMIM:619016
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Sensorineural hearing impairment, Hyphema, Aortic valve stenosis, Pulmonic stenosis, Arachnodacty... ORPHA:261552
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Retinal hemorrhage, Vasculitis in the skin, Punctate vasculitis skin... OMIM:192315
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... ORPHA:99027
Alport Syndrome 2, Autosomal Recessive
Cataract, Anterior lenticonus, Corneal erosion OMIM:203780
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Poorly ossified cervical vertebrae, Tibial bowing, Femoral ... ORPHA:140
Adult Krabbe Disease
Pes cavus, EEG abnormality, Delayed brainstem auditory evoked response conduction time ORPHA:206448
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Pes cavus, Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic ... OMIM:609136
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Congenital diaphragmatic hernia, Elbow flexion ... OMIM:200980
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612562
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop... OMIM:127550
Hydrolethalus Syndrome 1
Stillbirth, Upper limb undergrowth, Abnormal pinna morphology, Postaxial hand polydactyly, Low-se... OMIM:236680
Tibial Hemimelia
Absent tibia OMIM:275220
Incontinentia Pigmenti
Congestive heart failure, Finger syndactyly, Abnormal dental enamel morphology, Abnormal hand mor... ORPHA:464
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Heterochromia iridis, Anisocoria, Corneal kera... ORPHA:263479
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Central Retinal Vein Occlusion
Papilledema, Retinal neovascularization, Intraretinal hemorrhage ORPHA:411527
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... OMIM:114290
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Midline central nervous system lipomas, Aplasia/Hypoplasia of the tibia, Pre... ORPHA:1827
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Prolonged bleeding following circumcision, Bilateral radial aplasia, Broad thumb,... OMIM:274000
Idiopathic Aplastic Anemia
Ecchymosis, Gingival bleeding, Epistaxis, Retinal hemorrhage ORPHA:88
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Phacoanaphylactic Uveitis
Hyphema, Retinal arteritis ORPHA:209959
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Gastrointestinal hemorrhage, Cerebral hemorrhage, Retinal hemorrhage OMIM:177850
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, Posterior embryotoxon, D... OMIM:612109
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... ORPHA:79330
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, Broad thumb, Umb... OMIM:304120
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... ORPHA:2879
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Protruding ear, Inguinal hernia, Hypo... OMIM:218330
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Chorioretinal scar, Papilledema, Weight lo... ORPHA:91500
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Microtia, Paranasal sinus hypoplasia, Arachnodactyly, Craniofacial os... OMIM:300373
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Cataract OMIM:269200
Granulomatosis With Polyangiitis
Chronic otitis media, Localized pulmonary hemorrhage, Retinal hemorrhage, Weight loss, Diffuse al... OMIM:608710
Orofaciodigital Syndrome Type 4
Absent crus of helix, Finger syndactyly, Microtia, third degree, Postaxial hand polydactyly, Spli... ORPHA:2753
Charge Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Absent tibia, Pulmonic sten... OMIM:214800
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
Cockayne Syndrome Type 3
Increased blood pressure, Cardiomyopathy, Adult onset sensorineural hearing impairment, Retinal h... ORPHA:90324
Familial Drusen
Macular hemorrhage ORPHA:75376
Cockayne Syndrome
Optic atrophy, Decreased nerve conduction velocity, Hyperuricemia, Cachexia, Hypertension, Retina... ORPHA:191
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hypophosphatemic rickets, Mixed hearing impairment, Sensor... ORPHA:51608
Rift Valley Fever
Hematemesis, Abnormal bleeding, Melena, Gingival bleeding, Retinal hemorrhage ORPHA:319251
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Kinsship Syndrome
Polydactyly, Osteopenia, Fibular hypoplasia, Dislocated radial head, Low-set ears, Failure to thr... OMIM:619297
Vitreous hemorrhage OMIM:180200
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Fibular hypoplasia, Hip subluxation, Mixed hearing impairment, Low-set,... ORPHA:444077
Incontinentia Pigmenti
Optic atrophy, Scarring, Retinal hemorrhage OMIM:308300
Tinnitus, Facial palsy, Retinal hemorrhage ORPHA:863
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Hypochromic microcytic anemia, Iro... ORPHA:97214
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Corneal neovascularization, Elevated circulating creatine kinase concentration, ... OMIM:175780
Sympathetic Ophthalmia
Hearing impairment, Papilledema, Tinnitus, Retinal hemorrhage ORPHA:79098
Joint Laxity, Short Stature, And Myopia
Iris coloboma OMIM:617662


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 Gzf1

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 Gzf1.

No publications found that use IMPC mice or data for Gzf1.

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MGI Allele Allele Type Produced
Gzf1em1(IMPC)Tcp Intra-exon deletion Mice
Gzf1tm368934(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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