Gene Summary

homeobox containing 1

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
abnormal lens morphology Hmbox1em1(IMPC)Tcp HOM   Early adult 4.13×10-05
abnormal sternum morphology Hmbox1em1(IMPC)Tcp HOM Early adult 0.00
abnormal retinal blood vessel morphology Hmbox1em1(IMPC)Tcp HOM   Early adult 4.54×10-06
abnormal retinal vasculature morphology Hmbox1em1(IMPC)Tcp HOM   Early adult 4.57×10-06
enlarged lymph nodes Hmbox1em1(IMPC)Tcp HOM Early adult 0.00
enlarged kidney Hmbox1em1(IMPC)Tcp HOM Early adult 0.00
thick skin Hmbox1em1(IMPC)Tcp HOM Early adult 0.00
impaired contextual conditioning behavior Hmbox1em1(IMPC)Tcp HOM Early adult 1.01×10-05
cataract Hmbox1em1(IMPC)Tcp HOM   Early adult 3.51×10-05
persistence of hyaloid vascular system Hmbox1em1(IMPC)Tcp HOM   Early adult 4.27×10-06
decreased mean corpuscular hemoglobin Hmbox1em1(IMPC)Tcp HOM   Early adult 6.99×10-07
decreased mean corpuscular hemoglobin concentration Hmbox1em1(IMPC)Tcp HOM   Early adult 7.21×10-07

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Viewing: all phenotypes

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.

Eye Morphology

Images Ophthalmoscopy

108 Images

Eye Morphology

Images Slit Lamp

96 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection


9 Images


XRay Images Skull Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Hmbox1 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 Hmbox1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Bardet-Biedl Syndrome 18
Retinal dystrophy, Cognitive impairment, Rod-cone dystrophy, Cataract, Renal insufficiency, Brach... OMIM:615995
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Short thumb, Chorioretinal coloboma, Cataract OMIM:274205
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Micropenis, Cataract OMIM:610156
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... ORPHA:179
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Postaxial polydactyly, Bone spicule pigmentation of the retin... OMIM:614500
Morm Syndrome
Retinal dystrophy, Micropenis, Cataract, Abnormality of the kidney, Retinal atrophy ORPHA:75858
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Abnormal anterior eye segment morphology, Macular edema, Macular degener... ORPHA:411527
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Dementia, Vacuolated lymphocytes, Rod-cone dystrophy, Macular degeneration, Catara... OMIM:204200
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Coats Disease
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... ORPHA:190
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... OMIM:616468
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy OMIM:618220
Cognitive impairment, Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia... ORPHA:846
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Optic atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropen... OMIM:617303
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Hepatomegaly, Cataract OMIM:607906
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Retinal Venous Beading
Neutropenia, Retinal infarction, Nephritis, Retinal neovascularization, Vitreous hemorrhage, Sacc... OMIM:180080
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Retinal detachment, Ca... OMIM:212550
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Cataract OMIM:273680
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cone-shaped epiphysis, Retinal dystrophy, Nephronophthisis, ... ORPHA:3156
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy ORPHA:90654
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... OMIM:180104
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Hematuria, Iris coloboma, Retinal d... ORPHA:1473
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Remnants of the h... ORPHA:231736
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy, Cataract, Microcornea OMIM:616171
Kaposiform Lymphangiomatosis
Abnormality of femur morphology, Abnormal lymphatic vessel morphology, Fractures of the long bone... ORPHA:464329
Norrie Disease
Optic atrophy, Dementia, Retinal fold, Shallow anterior chamber, Retinal dysplasia, Hypoplasia of... OMIM:310600
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Hand monodactyly, Split hand, Cataract, Retinopathy, Split foot OMIM:183800
Dwarfism With Stiff Joints And Ocular Abnormalities
Short lower limbs, Lower limb undergrowth, Retinal detachment, Cataract, Delayed ossification of ... OMIM:127200
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Cataract, Peripapillary atrophy, Macular degeneration OMIM:618195
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Progressive psychomotor deterioration, Episodic hemolytic anemia, Macular ... ORPHA:251004
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Short thumb, Chorioretinal coloboma, Cataract ORPHA:2489
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, Rod-cone dystro... OMIM:611040
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal spurs, Horizontal ribs, Absent tibia, Cone-shaped epiphysis, Postaxial polydactyly, M... OMIM:613091
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Morning glory anomaly, Macular hyperpigmen... OMIM:120330
Microcornea, Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, ... OMIM:193220
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Prote... ORPHA:85445
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Bardet-Biedl Syndrome 9
Retinal degeneration, Polydactyly, Postaxial polydactyly, Bone spicule pigmentation of the retina... OMIM:615986
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Asplenia, Femoral bowing, Enlarged kidney OMIM:615415
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... OMIM:193230
Retinitis Pigmentosa 2
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204100
Galactosemia Ii
Galactosuria, Cataract OMIM:230200
H Syndrome
Psoriasiform dermatitis, Corneal arcus, Hallux valgus, Lymphadenopathy, Hepatosplenomegaly, Micro... ORPHA:168569
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Genu valgum, Brachydactyly, Cataract, Coxa valga, Short phalanx of finger, ... OMIM:132450
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Dementia, Cataract, Cognitive impairment ORPHA:329314
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... OMIM:251270
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Metatarsus adductus, Tibial bowing, Renal malrotation, Retinal coloboma, Bif... ORPHA:500095
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Leber Congenital Amaurosis 1
Hepatomegaly, Hyperthreoninuria, Cataract, Fundus atrophy, Pigmentary retinopathy, Keratoconus OMIM:204000
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Phakodonesis, Iris hypoperfusion, Retinal v... OMIM:177650
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Ureteral duplication, Hydronephrosis, Tapered finger, Long fingers, Cardiomegaly, T... OMIM:608836
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Cystic renal dysplasia, Absent in utero rib ossification, Hammertoe, Webbed neck, Narrow pelvis b... OMIM:608022
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic kidney dysplasia,... OMIM:263200
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Methemoglobinemia, Anemia OMIM:613977
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... OMIM:602088
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Rod-cone dystrophy, Cupped ribs, I... ORPHA:168549
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Anemia, Aplasia/Hypoplasia of the iris, Abnorm... ORPHA:290
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation OMIM:614292
Linear Verrucous Nevus Syndrome
Toe syndactyly, Iris coloboma, Short metacarpal, Cataract, Retinopathy, Mental deterioration, Abn... ORPHA:2611
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
Autosomal Recessive Stickler Syndrome
Vitreoretinopathy, Abnormality of epiphysis morphology, Epiphyseal dysplasia, Genu valgum, Retina... ORPHA:250984
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Proximal placement of thumb, Absent radius, Hand polydactyly, S... OMIM:314390
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Peters anomaly, Optic disc coloboma, Corneal opaci... OMIM:120200
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Galactose Epimerase Deficiency
Hepatomegaly, Aminoaciduria, Cataract, Splenomegaly ORPHA:79238
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Shallow ... ORPHA:91495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Cataract, Retinal dysplasia OMIM:613154
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Hematuria, Cataract OMIM:120433
Multiple Epiphyseal Dysplasia, Beighton Type
Flattened femoral head, Metaphyseal spurs, Reduced proximal interphalangeal joint space, Abnormal... ORPHA:166011
Maternally-Inherited Diabetes And Deafness
Macular dystrophy, Proteinuria, Cataract, Retinopathy, Glomerulopathy, Abnormal chorioretinal mor... ORPHA:225
Spastic Paraplegia 5A, Autosomal Recessive
Urinary incontinence, Optic atrophy, Cognitive impairment, Cataract OMIM:270800
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Lens subluxation, Short ribs, Abnormal vitreous... ORPHA:93296
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Abnormality of retinal pigmentation, Heavy proteinuria, Leukopenia, Nephrotic synd... ORPHA:505248
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of epiphysis morphology, Lower limb undergrowth, Abnormality of femur morphology, Cat... ORPHA:2310
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Arachnodactyly, Retinal detac... ORPHA:171844
Intermediate Uveitis
Psoriasiform dermatitis, Tubulointerstitial nephritis, Vitreous floaters, Macular edema, Optic ne... ORPHA:279914
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Retinopathy, Pigmentary, And Mental Retardation
Arachnodactyly, Cataract, Pigmentary retinopathy OMIM:268050
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Retinal nonattachment, Shallow anterior chamber, Retinal fold, Persistent pupillary ... OMIM:221900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Hepatomegaly, Chronic tubulointerstitial nephritis, Short iliac bones, Metaphys... OMIM:614376
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... OMIM:601813
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Lipemia retinalis, Decreased glome... OMIM:232220
Peroxisome Biogenesis Disorder 8B
Retinal dystrophy, Cognitive impairment, Cataract, Optic atrophy OMIM:614877
Autosomal Dominant Polycystic Kidney Disease
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... ORPHA:730
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma ORPHA:35737
Hypospadias, Polydactyly, Postaxial polydactyly, Sandal gap, Preaxial polydactyly, Micropenis, Sy... OMIM:612651
Microcephalic Primordial Dwarfism, Toriello Type
Short middle phalanx of finger, Neutropenia, Radial deviation of finger, Short foot, Short proxim... OMIM:251190
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Cognitive impairment, Normochromic anemia, Progressive neurologic deterioratio... ORPHA:247691
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Stickler Syndrome, Type Ii
Long fingers, Arachnodactyly, Abnormal vitreous humor morphology, Retinal detachment, Cataract OMIM:604841
Isolated Aniridia
Aplasia/Hypoplasia of the macula, Cataract, Peters anomaly, Aniridia ORPHA:250923
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Stickler Syndrome Type 1
Abnormality of epiphysis morphology, Abnormal vitreous humor morphology, Retinal detachment, Cata... ORPHA:90653
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormality of the optic disc, Cataract ORPHA:65
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia ORPHA:848
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Laurence-Moon Syndrome
Iris coloboma, Displacement of the urethral meatus, Finger syndactyly, Cataract, Hand polydactyly... ORPHA:2377
Shwachman-Diamond Syndrome 1
Irregular ossification at anterior rib ends, Hepatomegaly, Proximal femoral metaphyseal irregular... OMIM:260400
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Catarac... ORPHA:791
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Retinal dystrophy, Hypoplasia of the retina, Polycystic kidney dysplasia, Cataract OMIM:263100
Neuraminidase Deficiency
Hepatomegaly, Cherry red spot of the macula, Epiphyseal stippling, Vacuolated lymphocytes, Bone-m... OMIM:256550
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Clubbing, Enlarged kidney ORPHA:79128
Diamond-Blackfan Anemia 3
Macrocytic anemia, Increased mean corpuscular volume, Webbed neck, Persistence of hemoglobin F, R... OMIM:610629
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Asplenia, Renal dysplasia, Enlarged kidney, Renal insufficiency, Polycystic kidney ... OMIM:208540
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Mucopolysacchariduria, Hepatomegaly, Broad ha... ORPHA:585
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Hepatomegaly, Cataract, Ectopic kidney, Abnormality of the kidney OMIM:613730
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Abnormality of epiphysis morphology, Abnormal rib morphology, Cataract, Brachydactyly ORPHA:2643
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Iris hypopigmentation, 3-Methylglutaconic aciduria, Cataract ORPHA:67048
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Arachnodactyly, Sandal gap, Cataract, Abnormality of pelvic girdle bone... ORPHA:2725
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Corneal erosion, Nephrotic syndrome, Hematuria, Nephrit... OMIM:203780
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Optic atrophy, Optic disc hypoplasia, Rod-cone dystrophy, Microcytic anemia, Cataract, Coloboma ORPHA:324737
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Lipemia retinalis, Decreased glomerular filtrat... OMIM:232200
Gyrate Atrophy Of Choroid And Retina
Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretinal atrophy, Aminoaciduria,... ORPHA:414
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Retinal detachment, Corneal opacity, Cataract, Coloboma OMIM:613153
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Aplasia/Hypoplasia of the lens, Genu valgum, Cataract, Hypoplasia of penis ORPHA:1381
Trisomy 13
Optic atrophy, Hydronephrosis, Abnormality of the ureter, Cognitive impairment, Aplasia/Hypoplasi... ORPHA:3378
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Hypochromic anemia OMIM:257790
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Metatarsus adductus, Epiphyseal stippling, Brushfield spots, Renal cyst, Splenomega... OMIM:614866
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of the radius, Ir... ORPHA:959
Igg4-Related Kidney Disease
Ureteral obstruction, Hydronephrosis, Tubulointerstitial nephritis, Urinary bladder inflammation,... ORPHA:449395
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Cataract, Cognitive impairment OMIM:615181
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Proximal renal tubular acidosis, Band keratopathy, Cataract, Bicarbonate-wasting renal tubular ac... OMIM:604278
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Postaxial hand polydactyly, Polysplenia, Enlarged kidney OMIM:200995
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystroph... OMIM:609033
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal p... ORPHA:67043
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Optic atrophy, Retinal fold, Myopic astigmatism, Chorioretinal dysplasia, Chorioretinal lacunae, ... OMIM:152950
Refsum Disease, Classic
Retinal degeneration, Abnormal renal physiology, Cardiomegaly, Rod-cone dystrophy, Cataract, Shor... OMIM:266500
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Microphthalmia, Lenz Type
Hypospadias, Hydronephrosis, Chorioretinal coloboma, Webbed neck, Optic disc coloboma, Iris colob... ORPHA:568
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Macrodactyly, 2-4 toe syndactyly, Foot polydactyly, Nephrobl... ORPHA:276280
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Sclerocornea, Retinal dystrophy, Proximal placement of thumb, Iris colobo... ORPHA:139471
Refsum Disease
Abnormality of retinal pigmentation, Hammertoe, Abnormality of epiphysis morphology, Splenomegaly... ORPHA:773
Infantile Spasms-Broad Thumbs Syndrome
Broad thumb, Optic disc pallor, Cataract ORPHA:3173
Nance-Horan Syndrome
Microcornea, Retinal detachment, Cataract, Short metacarpal ORPHA:627
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract, Cognitive impairment ORPHA:3437
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Chorioretinal coloboma, Morning glory anomaly, Retinal colobom... OMIM:612109
Autosomal Recessive Polycystic Kidney Disease
Cognitive impairment, Stage 5 chronic kidney disease, Splenomegaly, Recurrent urinary tract infec... ORPHA:731
Tyrosinemia, Type I
Renal Fanconi syndrome, Hepatomegaly, Nephrocalcinosis, Glomerular sclerosis, Splenomegaly, Renal... OMIM:276700
Joubert Syndrome 9
Retinal dystrophy, Astigmatism, Cataract, Stage 5 chronic kidney disease OMIM:612285
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Oculo-Palato-Cerebral Syndrome
Small hand, Retinal detachment, Short foot, Cataract, Remnants of the hyaloid vascular system, Le... ORPHA:2714
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Hepatomegaly, Nephrocalcinosis, Abnormal myeloid leukocyte morphology, Cogni... ORPHA:79259
Mevalonic Aciduria
Fluctuating splenomegaly, Nuclear cataract, Leukocytosis, Optic disc pallor, Normocytic hypoplast... OMIM:610377
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ocular albinism, Arachnodactyly, Hypochromic anemia, Abnormal renal tubule morphology, Cataract, ... ORPHA:2720
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis, Sclerocornea, Optic nerve hypoplasia, Peters anomaly,... OMIM:243605
Congenital Sialidosis Type 2
Optic atrophy, Developmental cataract, Hepatomegaly, Hypoplasia of the fovea, Cherry red spot of ... ORPHA:93400
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Metatarsus adductus, Hypoplasia of the thymus, Brushfield spots, Polycystic kidney ... OMIM:214110
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Hemolytic anemia, Cataract, Splenomegaly OMIM:608885
Mietens Syndrome
Metatarsus adductus, Sclerocornea, Avascular necrosis of the capital femoral epiphysis, Hypoplasi... ORPHA:2557
Short metatarsal, Cognitive impairment, Short metacarpal, Cataract, Brachydactyly OMIM:612463
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Blackfan-Diamond Anemia
Hypospadias, Neutropenia, Triphalangeal thumb, Normochromic anemia, Erythroid hypoplasia, Reticul... ORPHA:124
Infantile Refsum Disease
Optic atrophy, Hepatomegaly, Abnormality of epiphysis morphology, Rod-cone dystrophy, Cataract ORPHA:772
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Renal hypoplasia, Hydronephrosis, Congenital hip dislocation, Cataract, Aminoaciduria OMIM:617913
Galactosemia I
Hepatomegaly, Aminoaciduria, Increased level of galactitol in urine, Albuminuria, Cataract, Galac... OMIM:230400
Hepatomegaly, Hydronephrosis, Broad ischia, Radial deviation of the thumb, Abnormal renal artery ... ORPHA:79328
Aniridia 1
Hypoplasia of the fovea, Corneal erosion, Ectopia lentis, Anterior subcapsular cataract, Hypoplas... OMIM:106210
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Kniest Dysplasia
Flattened, squared-off epiphyses of tubular bones, Delayed epiphyseal ossification, Coxa vara, Re... OMIM:156550
Kniest Dysplasia
Rhegmatogenous retinal detachment, Enlarged epiphyses, Aplasia/Hypoplasia of the lens, Vitreoreti... ORPHA:485
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Adducted thumb, Retinal dysplasia, Optic nerve hypoplasia, Peters anomaly, Retinal detachment, Ca... OMIM:614643
Juvenile Sialidosis Type 2
Optic atrophy, Hepatomegaly, Cherry red spot of the macula, Hepatosplenomegaly, Corneal opacity, ... ORPHA:93399
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy OMIM:614879
Enhanced S-Cone Syndrome
Vitreoretinopathy, Macular edema, Cataract, Pigmentary retinopathy, Retinoschisis OMIM:268100
Leiomyomatosis, Diffuse, With Alport Syndrome
Glomerular basement membrane lamellation, Abnormal renal physiology, Hematuria, Stage 5 chronic k... OMIM:308940
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Sandal gap, Abnormal retinal vascular morphol... ORPHA:2715
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Choroideremia, Polycythemia, Congenital megaureter, Cardiomeg... ORPHA:116
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio, Nephritis, Stage 5 chronic kidney disease OMIM:609057
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Pure red cell aplasi... OMIM:613179
Aniridia And Absent Patella
Aniridia, Aplasia/Hypoplasia of the patella, Cataract OMIM:106220
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Ectopia lentis, Hammertoe, Iris coloboma, Flexion contracture of the 4th toe,... ORPHA:2712
Galactokinase Deficiency
Nuclear cataract, Hepatomegaly, Increased level of galactitol in urine, Hepatosplenomegaly, Catar... ORPHA:79237
Spondyloocular Syndrome
Webbed neck, Long fingers, Retinal detachment, Cataract, Long toe OMIM:605822
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Missing ribs, Iris coloboma, Multicystic kidney dysplasia, ... ORPHA:3301
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Isolated Ectopia Lentis
Cognitive impairment, Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Oculocerebral Hypopigmentation Syndrome, Cross Type
Choroideremia, Ocular albinism, Abnormality of the urinary system, Anemia, Arachnodactyly, Thin s... ORPHA:2719
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Short greater sciatic notch, Broad toe, Short ribs, Splenomegaly, 2-3 finger syndact... OMIM:312870
Duane-Radial Ray Syndrome
Triphalangeal thumb, Retinal coloboma, Hypoplasia of the radius, Iris coloboma, Syndactyly, Short... OMIM:607323
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Oligosacchariduria, Hepatosplenomegaly, Corneal opacity, Cataract, Pancytopenia ORPHA:309288
Dent Disease
Tubulointerstitial fibrosis, Metaphyseal irregularity, Non-acidotic proximal tubulopathy, Hyperur... ORPHA:1652
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Proximal tubulopathy, Persistence of hemoglobi... ORPHA:231222
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Decre... ORPHA:276
Nail-Patella Syndrome
Hypoplasia of first ribs, Lester's sign, Elongated radius, Keratoconus, Disproportionate prominen... OMIM:161200
Microphthalmia, Syndromic 5
Retinal dystrophy, Optic nerve hypoplasia, Micropenis, Cataract, Coloboma, Microcornea OMIM:610125
Walker-Warburg Syndrome
Abnormality of the optic nerve, Optic atrophy, Retinal dysplasia, Retinal dystrophy, Chorioretina... ORPHA:899
Beta-Thalassemia Major
Hepatomegaly, Anisopoikilocytosis, Hypochromic microcytic anemia, Bowing of the long bones, Splen... ORPHA:231214
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Webbed neck, Radi... OMIM:141750
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Methemoglobinemia, Micropenis OMIM:250790
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia, Morning glo... OMIM:165550
Diamond-Blackfan Anemia 6
Macrocytic anemia, Triphalangeal thumb, Increased mean corpuscular volume, Persistence of hemoglo... OMIM:612561
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Bardet-Biedl Syndrome 1
Retinal degeneration, Postaxial polydactyly, Retinal dystrophy, Hyperautofluorescent macular lesi... OMIM:209900
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Bowing of the long bones, Persistence of hemoglobin F, Splenomegal... ORPHA:231226
Weill-Marchesani Syndrome
Short thumb, Cataract, Brachydactyly, Ectopia lentis ORPHA:3449
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, HbH hemoglobin, Microcytic anemia, Short toe ORPHA:98791
Lymphedema-Hypoparathyroidism Syndrome
Pulmonary lymphangiectasia, Cataract, Nephropathy, Renal insufficiency, Brachydactyly OMIM:247410
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Absent tonsils, Lymph node hypoplasia OMIM:602450
Proteus-Like Syndrome
Limbal dermoid, Thymus hyperplasia, Splenomegaly, Heterochromia iridis, Abnormal pupil morphology... ORPHA:2969
Idiopathic Panuveitis
Conjunctival hyperemia, Vitreous floaters, Choroidal neovascularization, Vitreous snowballs, Cyst... ORPHA:280921
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Hydronephrosis, Anemia, Abnormal hemoglobin, Recurrent urinary tract infections, C... ORPHA:847
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Sclerocornea, Cataract, Coloboma, Microcornea, Ectopia pupillae OMIM:615877
Warburg Micro Syndrome 2
Optic atrophy, Developmental cataract, Micropenis, Cataract, Microcornea, Overlapping toe OMIM:614225
Knobloch Syndrome
Ectopia lentis, Vitreoretinopathy, Lymphangioma, Bifid ureter, Macular degeneration, Abnormal vit... ORPHA:1571
Congenital Bile Acid Synthesis Defect Type 4
Mental deterioration, Cataract, Memory impairment, Pigmentary retinopathy ORPHA:79095
Aniridia 2
Aniridia, Cataract OMIM:617141
Peroxisome Biogenesis Disorder 10B
Cataract, Neurogenic bladder, Nephrocalcinosis OMIM:617370
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Nephrocalcinosis, Cardiomegaly, Nephrolithiasis, Enlarged kid... OMIM:130650
Trisomy 18
Abnormality of retinal pigmentation, Hydronephrosis, Webbed neck, Cognitive impairment, Cyclopia,... ORPHA:3380
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypospadias, Reduced alpha/beta synthesis ratio, Renal agenesis, Hydronephrosis, Hypochromic micr... OMIM:301040
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Tubulointerstitial nephritis, Choroidal neovascularization, Normochromic anem... ORPHA:91500
Cockayne Syndrome Type 3
Progressive neurologic deterioration, Splenomegaly, Unilateral renal agenesis, Optic disc pallor,... ORPHA:90324
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Aniridia-Absent Patella Syndrome
Aniridia, Aplasia/Hypoplasia of the patella, Cataract ORPHA:1069
Chops Syndrome
Horseshoe kidney, Optic atrophy, Cataract, Vesicoureteral reflux, Brachydactyly OMIM:616368
Werner Syndrome
Retinal degeneration, Cataract OMIM:277700
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Meacham Syndrome
Horseshoe kidney, Accessory spleen, Enlarged kidney OMIM:608978
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, 3-4 toe syndactyly, Sandal gap, Brachydactyly, Cataract, Broad hallux, Astigmatism... OMIM:618727
Horseshoe kidney, Hepatomegaly, Anisopoikilocytosis, Toe syndactyly, Thrombocytopenia, Abnormal p... ORPHA:46059
Neurofibromatosis Type 2
Abnormality of the optic nerve, Posterior subcapsular cataract, Memory impairment, Cortical catar... ORPHA:637
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Corneal erosion, Webbed neck, Renal duplication, Recurrent urinary ... ORPHA:33001
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Nephrocalcinosis, Cataract, Pigmentary retinopathy, Keratoconjunctivitis, Perifoveal ri... OMIM:240300
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Alagille Syndrome 1
Renal hypoplasia, Focal segmental glomerulosclerosis, Posterior embryotoxon, Axenfeld anomaly, Re... OMIM:118450
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Zonular cataract, Hepatosplenomegaly, Cataract, Spontaneous hemolytic crises, Bra... ORPHA:168577
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Renal tubular dysfunction, Tubuloint... ORPHA:330015
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Short metacarpal... ORPHA:508542
Cockayne Syndrome
Abnormal renal physiology, Splenomegaly, Unilateral renal agenesis, Retinal arteriolar constricti... ORPHA:191
Incontinentia Pigmenti
Optic atrophy, Leukocytosis, Hypoplasia of the fovea, Retinal vascular proliferation, Keratitis, ... OMIM:308300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Buphthalmos, Retinal dysplasia, Renal dysplasia, Optic nerve hypoplasia, Peters an... OMIM:236670
Meckel Syndrome
Optic atrophy, Ureteral duplication, Asplenia, Sclerocornea, Urethral atresia, Bowing of the long... ORPHA:564
Hepatomegaly, Long penis, Nephrocalcinosis, Enlarged ovaries, Hypercalciuria, Enlarged kidney ORPHA:508
Fabry Disease
Optic atrophy, Abnormality of femur morphology, Nephrotic syndrome, Cognitive impairment, Conjunc... ORPHA:324
Cockayne Syndrome A
Optic atrophy, Dementia, Hepatomegaly, Thymic hormone decreased, Hypoplastic iliac wing, Retinal ... OMIM:216400
Norrie Disease
Optic atrophy, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Sclerocorn... ORPHA:649
Blau Syndrome
Abnormality of the optic nerve, Retrobulbar optic neuritis, Lymphadenopathy, Clear cell renal cel... ORPHA:90340
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Iron deficiency anemia, Thymoma, Cataract, Band keratopathy, Keratoconjunctivitis OMIM:269200
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Optic atrophy, Urinary incontinence, Cataract, Mental deterioration, Memory impairment ORPHA:314404
Imbalanced hemoglobin synthesis, Leukemia, Pure red cell aplasia, Glomerulonephritis, Aplastic an... ORPHA:99867
Horseshoe kidney, Toe syndactyly, Anisopoikilocytosis, Increased mean platelet volume, Schistocyt... OMIM:607330
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Spondylocarpotarsal Synostosis Syndrome
Tarsal synostosis, Abnormality of retinal pigmentation, Capitate-hamate fusion, Epiphyseal dyspla... OMIM:272460
Neuroocular Syndrome
Blue irides, Lens coloboma, Hypoplasia of the fovea, Hyperextensibility of the finger joints, Ste... OMIM:619539
Townes-Brocks Syndrome
Hypospadias, Broad hallux phalanx, Triphalangeal thumb, Iris coloboma, Toe clinodactyly, Ectopic ... ORPHA:857
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Lymph node hypoplasia, Conjunctivitis OMIM:300755
Microphthalmia, Syndromic 2
Hypospadias, Contracture of the proximal interphalangeal joint of the 3rd toe, Developmental cata... OMIM:300166
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Webbed neck, Iris coloboma, Finger syndactyly, Cataract, Retinob... ORPHA:1587
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, N... ORPHA:47159
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract, ... ORPHA:67036
Dyskeratosis Congenita, X-Linked
Hypospadias, Optic atrophy, Horseshoe kidney, Leukopenia, Urethral stenosis, Phimosis, Anemia, Bo... OMIM:305000
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Sclerocornea, Chordee, Iris coloboma, Micropenis, Cataract, Pigmentary retinopathy OMIM:309801
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Metatarsus adductus, Absent hallux, Cataract, Microcornea, Absent toe OMIM:608279
Bifid sternum ORPHA:63260
Coffin-Lowry Syndrome
Tapered finger, Bifid sternum, Narrow iliac wing, Short metacarpal, Drumstick terminal phalanges,... OMIM:303600


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 Hmbox1

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 Hmbox1.

No publications found that use IMPC mice or data for Hmbox1.

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MGI Allele Allele Type Produced
Hmbox1em1(IMPC)Tcp Intra-exon deletion Mice
Hmbox1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hmbox1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Hmbox1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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