banner
Genes Phenotypes Help, News, Blog

Gene: Bms1 MGI:2446132

Log in to follow

Gene Summary

Name:
BMS1, ribosome biogenesis factor
Synonyms:
Bms1l

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal coat/hair pigmentation Bms1tm1b(EUCOMM)Hmgu HET   Early adult 4.80×10-05
abnormal retina morphology Bms1tm1b(EUCOMM)Hmgu HET   Early adult 6.93×10-06
increased cardiac muscle contractility Bms1tm1b(EUCOMM)Hmgu HET   Early adult 7.68×10-06
abnormal lens morphology Bms1tm1b(EUCOMM)Hmgu HET Early adult 2.88×10-11
decreased circulating sodium level Bms1tm1b(EUCOMM)Hmgu HET   Early adult 9.26×10-05
cataract Bms1tm1b(EUCOMM)Hmgu HET Early adult 1.79×10-10
preweaning lethality, complete penetrance Bms1tm1b(EUCOMM)Hmgu HOM   Early adult 5.66×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Electrocardiogram (ECG)

Waveform Image

22 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

1 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

3 Images

View images

Human diseases caused by Bms1 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 Bms1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Aplasia Cutis Congenita
ORPHA:1114
Aplasia Cutis Congenita, Nonsyndromic
OMIM:107600

The table below shows human diseases predicted to be associated to Bms1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy, Abnormality of skin pigmentation OMIM:300719
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair, Juvenile cataract OMIM:617251
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Generalized hyperpigmentation, Optic atrophy ORPHA:2253
Woolly Hair
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... ORPHA:170
Tietz Syndrome
Hypopigmentation of the skin, Abnormal anterior chamber morphology, White eyebrow, Abnormality of... ORPHA:42665
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death, Juvenile cataract OMIM:212500
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of the fundus, Macular hypoplasia, Blue irides, Albinism, Hypopigmentation of hair OMIM:606574
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration, Fragile nails ORPHA:254704
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V... OMIM:143200
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Chorioretinal coloboma, White forelock, Numerous pigmented freckles, Iris coloboma, ... OMIM:601706
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Increased LDL cholesterol concentration, Fair hair, Developmental cataract OMIM:618808
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fraction, Hypocalcemia,... OMIM:620152
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypoplasia of the fovea, Iris trans... OMIM:619165
Cataract 42
Cataract, Developmental cataract OMIM:115900
Birdshot Chorioretinopathy
Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir... ORPHA:179
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Vitreous floaters, Lattice retinal degeneration, Retinal detachment, Peripheral vitreor... OMIM:614292
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe... ORPHA:1067
Intellectual Developmental Disorder, Autosomal Dominant 70
Cataract, Highly arched eyebrow, Hyponatremia, Retinal detachment, Retinal telangiectasia, Optic ... OMIM:620157
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus OMIM:606952
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Arrhythmia OMIM:616949
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Cardiomyopathy, Dilated, 1Ii
Cataract, Dilated cardiomyopathy, Mitral regurgitation, Elevated circulating creatine kinase conc... OMIM:615184
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Hypopigmentation of the fundus, Freckles in sun-exposed areas, Hypo... OMIM:203200
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Subcapsular catara... OMIM:600059
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Monilethrix
Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hai... ORPHA:573
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... ORPHA:90050
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Vogt-Koyanagi-Harada Disease
Cataract, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vit... ORPHA:3437
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level OMIM:620125
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of s... OMIM:251270
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Nathalie Syndrome
Cataract, Abnormal EKG OMIM:255990
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Abnormality of skin pigmentation OMIM:240200
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Leber Congenital Amaurosis 2
Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level OMIM:203400
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl... OMIM:177650
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Optic ... ORPHA:79433
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Orthostatic hypotension, Increased circulating renin level OMIM:610600
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta... OMIM:616468
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Decreased circulating renin level, Hyponatremia, Reduced blood ... OMIM:300539
Colchicine Poisoning
Hypotension, Cardiogenic shock, Alopecia, Congestive heart failure, Hypomagnesemia, Hypocalcemia,... ORPHA:31824
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Hypopigmentation of the skin, Abnormal optic nerve morphology, Premature graying o... ORPHA:33445
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat... ORPHA:75376
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Hyperlipidemia, R... ORPHA:79476
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Late-Onset Familial Hypoaldosteronism
Hypotension, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level ORPHA:556037
Gyrate Atrophy Of Choroid And Retina
Cataract, Abnormal macular morphology, Abnormal hair morphology, Hyperornithinemia, Chorioretinal... ORPHA:414
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... OMIM:600886
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Rabin-Pappas Syndrome
Cataract, Highly arched eyebrow, Hyponatremia, Retinal detachment, Retinal telangiectasia, Optic ... OMIM:620155
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Hereditary Coproporphyria
Facial hirsutism, Extension of hair growth on temples to lateral eyebrow, Abnormal circulating po... ORPHA:79273
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Hyponatremia, Tachycardia, Intracra... ORPHA:449285
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level OMIM:177735
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Early-Onset Familial Hypoaldosteronism
Hypotension, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level ORPHA:556030
Aniridia 2
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hypotension, Hyperkalemia OMIM:264350
Alg8-Cdg
Hyponatremia, Cataract, Optic atrophy, Retinopathy ORPHA:79325
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Astigmatism, Peripapillary atrophy, Retinal d... OMIM:616188
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Hyperthreoni... OMIM:204000
Familial Dysautonomia
Optic atrophy, Abnormal pupil morphology, Heterochromia iridis, Hyponatremia, Orthostatic hypoten... ORPHA:1764
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... ORPHA:1473
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... OMIM:312600
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Macular degeneration, Concentric hypertrophic cardiomyopathy, Retinal de... OMIM:204200
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Stickler Syndrome, Type V
Cataract, Retinal detachment, Vitreoretinopathy OMIM:614284
Hyperkalemic Periodic Paralysis
Congestive heart failure, Elevated circulating creatine kinase concentration, Hypokalemia, Hypona... ORPHA:682
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology ORPHA:2786
Infant Botulism
Hypotension, Mydriasis, Hyponatremia, Keratoconjunctivitis sicca, Cardiac arrest, Hypertension ORPHA:178478
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, Optic nerve misrouting, Hypoplasia o... ORPHA:352731
Clouston Syndrome
Cataract, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Nail dystrophy, Spar... OMIM:129500
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Hypotension ORPHA:91354
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Hyponatremia, Arrhythmia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Abnormal fingernail morphology, Cataract ORPHA:2278
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti... OMIM:617304
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Senior-Loken Syndrome
Cataract, Hypertension, Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Cataract, Optic atrophy, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Hypertension OMIM:617913
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy ORPHA:1369
Waardenburg-Shah Syndrome
Abnormal macular morphology, Premature graying of hair, Abnormal eyebrow morphology, White forelo... ORPHA:897
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Fair hair, Generalized hypopigmentation OMIM:113750
Congenital Isolated Acth Deficiency
Hyponatremia, Hypotension ORPHA:199296
Tricho-Retino-Dento-Digital Syndrome
Sparse hair, Uncombable hair, Abnormality of retinal pigmentation, Juvenile cataract ORPHA:1264
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous... OMIM:618173
Flynn-Aird Syndrome
Cataract, Alopecia, Alopecia of scalp, Rod-cone dystrophy OMIM:136300
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Retinitis Pigmentosa 46
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod... OMIM:612572
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon... OMIM:180105
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... ORPHA:79434
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Optic atrophy OMIM:608688
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Cerebral vasculitis ORPHA:83601
Cataract 47
Cataract, Microcornea OMIM:612018
Porphyria Variegata
Hypopigmentation of the skin, Hypertrichosis, Abnormal circulating porphyrin concentration, Hypon... ORPHA:79473
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyperuricemia, Hyponatremia, Pulmonary arterial hypertension, Increased blood ure... OMIM:613845
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, ... ORPHA:1345
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Nuclear cataract, Pigmentary retinopathy, Attenuation of retinal ... OMIM:613581
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia, Hypertension, Astigmatism ORPHA:97362
Familial Hypoaldosteronism
Hypotension, Increased circulating renin level, Hyponatremia, Orthostatic hypotension, Hyperkalem... ORPHA:427
Hemochromatosis, Type 4
Cataract, Cardiomyopathy, Increased circulating ferritin concentration, Arrhythmia, Hyperpigmenta... OMIM:606069
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Elevated circulating phytanic acid concentration, Increased phy... OMIM:614307
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Intermediate Uveitis
Vasculitis, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Catarac... ORPHA:279914
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Hyperphosphatemia, Hypomagnesemia, Hypocalc... ORPHA:94093
Generalized Pustular Psoriasis
Hypoalbuminemia, Congestive heart failure, Hypocalcemia, Hyponatremia, Elevated circulating C-rea... ORPHA:247353
Norrie Disease
Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom... OMIM:310600
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Retinopathy, Aplasia/Hypoplasia of the fovea, Hypophosphate... ORPHA:2611
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:615352
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis OMIM:268100
Acute Adrenal Insufficiency
Hypotension, Vitiligo, Increased circulating renin level, Hyperuricemia, Hyponatremia, Sparse axi... ORPHA:95409
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract, Alopecia, Sparse eyebrow, Sparse eyelashes, Elevated circulating creatine kinase concen... OMIM:615704
Juvenile Nephropathic Cystinosis
Hypouricemia, Abnormal cornea morphology, Corneal crystals, Elevated circulating creatinine conce... ORPHA:411634
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Generalized hyperpigmentation, Hyponatremia, Myocarditi... ORPHA:3452
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Hereditary Bullous Dystrophy, Macular Type
Cataract, Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Hyperpigmentation of the s... ORPHA:1867
Cholera
Hypovolemic shock, Hypotension, Abnormal blood ion concentration, Hypocalcemia, Hypokalemia, Hypo... ORPHA:173
Erythrokeratodermia Variabilis
Cataract, Alopecia, Irregular hyperpigmentation, Abnormal hair morphology, Generalized hirsutism,... ORPHA:317
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Methionine Malabsorption Syndrome
Positive ferric chloride test, Blue irides, White hair OMIM:250900
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... ORPHA:100924
Familial Glucocorticoid Deficiency
Hypotension, Hypertrophic cardiomyopathy, Generalized hyperpigmentation, Hyponatremia, Hyperkalemia ORPHA:361
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension, Hirsutism, Hyponatremia, Hyperpigmentation of the skin, Hyperkalemia, Increased circ... ORPHA:90791
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Abnormal fundus morph... ORPHA:39044
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat... ORPHA:263479
Chédiak-Higashi Syndrome
Iris hypopigmentation, Epistaxis, Hypopigmentation of the skin, Spotty hyperpigmentation, Increas... ORPHA:167
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypopigmentation of the skin, Corneal crystals, Retinal pigment epithelia... OMIM:219800
Legionnaires Disease
Hypotension, Hyponatremia, Arrhythmia, Myocarditis, Pericarditis ORPHA:549
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... OMIM:618195
Adrenal Hypoplasia, Congenital
Hyponatremia, Hyperpigmentation of the skin OMIM:300200
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Ocular albi... ORPHA:79431
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Phenylketonuria
Cataract, Fair hair, Maternal hyperphenylalaninemia, Hyperphenylalaninemia, Blue irides, Generali... OMIM:261600
Retinitis Pigmentosa 43
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bon... OMIM:613810
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Alopecia, Sparse eyebrow, Keratitis, Nail dystrophy, Sparse eyelashes, Nail dysplasia, ... OMIM:612843
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Absent skin pigmentation, Blue... OMIM:203100
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Mirage Syndrome
Hyponatremia, Intracranial hemorrhage, Hyperkalemia, Achalasia OMIM:617053
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Cardiomyopathy ORPHA:67048
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract, Nail dystrophy, Alopecia totalis ORPHA:1366
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Necrotizing Enterocolitis
Shock, Hypotension, Hyponatremia, Bradycardia ORPHA:391673
Proximal Myotonic Myopathy
Cataract ORPHA:606
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hyperammonemia, El... OMIM:610505
Late-Onset Isolated Acth Deficiency
Hypotension, Vitiligo, Hyperuricemia, Hyponatremia, Orthostatic hypotension, Hypercalcemia ORPHA:199299
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Hypotension, Alopecia totalis, Nail dystrophy, Hyponatremia, Abnormality of the periung... ORPHA:293978
Sympathetic Ophthalmia
Cataract, Alopecia, Anterior chamber cells, Posterior synechiae of the anterior chamber, Macular ... ORPHA:79098
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Shigellosis
Hypovolemic shock, Conjunctivitis, Hyponatremia, Myocarditis, Abnormal blood ion concentration, C... ORPHA:810
Persistent Hyperplastic Primary Vitreous
Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Hemorrhage of... ORPHA:91495
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... ORPHA:83461
Pituitary Apoplexy
Hyponatremia, Mydriasis, Hypotension, Hypertension ORPHA:95613
Autosomal Recessive Stickler Syndrome
Cataract, Retinal detachment, Vitreoretinopathy, Astigmatism ORPHA:250984
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy, Cataract, Optic disc pallor ORPHA:3173
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hematochezia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Refsum Disease, Classic
Cataract, Cardiomyopathy, Congestive heart failure, Elevated circulating phytanic acid concentrat... OMIM:266500
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c... OMIM:221900
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy, Cardiomyopathy, Elevated circulating phytanic acid concentration OMIM:614879
Alg12-Cdg
Hypoalbuminemia, Small nail, Hypocholesterolemia, Low posterior hairline, Hyponatremia, Retinal d... ORPHA:79324
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Bardet-Biedl Syndrome 9
Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone spicule p... OMIM:615986
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Sheehan Syndrome
Sparse pubic hair, Breast hypoplasia, Palpitations, Hyponatremia, Sparse axillary hair, Orthostat... ORPHA:91355
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal conjunctiva morpholo... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal conjunctiva morpholo... ORPHA:529808
Classic Phenylketonuria
Cataract, Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia ORPHA:79254
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia... OMIM:106210
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Cataract, Band keratopathy, Hyperamylasemia OMIM:604278
Weill-Marchesani Syndrome
Aortic valve stenosis, Cataract, Ectopia lentis, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Holoprosencephaly
Highly arched eyebrow, Optic atrophy, Chorioretinal coloboma, Thick eyebrow, Retinopathy, Hyponat... ORPHA:2162
Galactose Mutarotase Deficiency
Cataract, Hypergalactosemia ORPHA:570422
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:613090
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Alopecia, Cataract, Hypomagnesemia, Nail dystrophy, Hypocalcemia, Hypokalemia, Nail... OMIM:175500
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract, Choroideremia OMIM:116600
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Fine hair, Abnormal pupil morphology, Hyponatremia, Hypokalemia, Hypophosp... ORPHA:534
Addison Disease
Hypotension, Vitiligo, Hyperuricemia, Hyponatremia, Sparse axillary hair, Hyperpigmentation of th... ORPHA:85138
Ifap Syndrome 2
Cataract, Atrichia, Keratitis, Nail dystrophy, Keratoconjunctivitis sicca, Sparse hair OMIM:619016
Griscelli Syndrome Type 2
Iris hypopigmentation, Premature graying of hair, Partial albinism, Hyperlipidemia, Hypopigmentat... ORPHA:79477
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Astigmatism, Retinal detachment, Chorio... OMIM:152950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Retinal detachment, Elevated circulating creatine kinase concen... OMIM:615181
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract, Retinal dystrophy OMIM:613763
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Mu... ORPHA:3214
Posterior Column Ataxia With Retinitis Pigmentosa
Cataract, Pigmentary retinopathy, Optic atrophy, Attenuation of retinal blood vessels, Achalasia,... OMIM:609033
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t... ORPHA:364055
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperpigmentation of the skin, Hyperkalemia ORPHA:90790
Cataract 48
Cataract OMIM:618415
Hermansky-Pudlak Syndrome 1
Hematochezia, Epistaxis, Hypopigmentation of the skin, Cardiomyopathy, Ocular albinism, Melanocyt... OMIM:203300
Hermansky-Pudlak Syndrome 11
Epistaxis, Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Hypoplasia of the fovea, Iris... OMIM:619172
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Cataract, Thick eyebrow, Achalasia, Developmental cataract ORPHA:436174
Infantile Refsum Disease
Cataract, Optic atrophy, Cardiomyopathy, Elevated circulating phytanic acid concentration, Arrhyt... ORPHA:772
Hereditary Mucoepithelial Dysplasia
Cataract, Alopecia, Fine hair, Sparse hair, Corneal dystrophy ORPHA:1839
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Cronkhite-Canada Syndrome
Cataract, Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, General... ORPHA:2930
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Abnormal circulating cholesterol concentration, Generalized hyperpigmentation, Incre... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Abnormal circulating cholesterol concentration, Generalized hyperpigmentation, Incre... ORPHA:289548
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Attenuation of r... OMIM:300578
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Red hair, Keratoglobus OMIM:229200
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Spontaneous, recurrent epistaxis OMIM:614072
Autoimmune Hypoparathyroidism
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, Ventricula... ORPHA:36913
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Fine hair, Abnormal fingernail morphology, Keratoconjunctivitis sicca, Abn... ORPHA:1806
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Isolated Ectopia Lentis
Ectopia lentis, Cataract, Hypertension, Ectopia pupillae ORPHA:1885
Aniridia 3
Cataract, Aniridia OMIM:617142
Adenohypophysitis
Hyponatremia, Orthostatic hypotension ORPHA:95512
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Sparse hair, Hypernatremia, Pulmonic stenosis OMIM:615508
Incontinentia Pigmenti
Supernumerary nipple, Hypoplasia of the fovea, Retinal detachment, Sparse hair, Onychogryposis, C... OMIM:308300
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Familial Isolated Hypoparathyroidism
Cataract, Arrhythmia, Hypocalcemia ORPHA:2238
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Nail dysplasia, Sclerocornea, Iris coloboma, Retin... ORPHA:139471
Panhypophysitis
Hyponatremia, Orthostatic hypotension ORPHA:95513
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Cataract, Dilated cardiomyopathy, Reduced systolic function OMIM:618805
Joubert Syndrome 9
Cataract, Astigmatism, Retinal dystrophy OMIM:612285
Brittle Cornea Syndrome
Corneal scarring, Abnormality of hair pigmentation, Pulmonic stenosis, Decreased corneal thicknes... ORPHA:90354
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Optic atrophy, Rod-cone dystrophy, Subcapsular cataract OMIM:612674
Acute Intermittent Porphyria
Hyponatremia, Tachycardia, Hypertension ORPHA:79276
Lysosomal Acid Lipase Deficiency
Hypotension, Hyponatremia, Pulmonary arterial hypertension, Hypercholesterolemia, Hypertriglyceri... ORPHA:275761
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... OMIM:615751
Amyloidosis, Finnish Type
Cataract, Cardiomyopathy, Decreased heart rate variability, Orthostatic hypotension, Optic neurop... OMIM:105120
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Phacoanaphylactic Uveitis
Anterior chamber flare grade 1+, Hypopyon, Macular edema, Posterior synechiae of the anterior cha... ORPHA:209959
Obesity And Hypopigmentation
Red hair OMIM:620195
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of the fundus, Ocular albinis... OMIM:611584
Japanese Encephalitis
Hyponatremia ORPHA:79139
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Epistaxis, Gastrointestinal hemorrhage, Cataract, Hypopigmentation of the ... ORPHA:79430
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc ... OMIM:268315
Congenital Sialidosis Type 2
Cataract, Optic atrophy, Abnormal EKG, Cherry red spot of the macula, Telangiectasia, Hypoplasia ... ORPHA:93400
Ataxia-Telangiectasia
Premature graying of hair, Telangiectasia of the skin, Multiple cafe-au-lait spots, Hypopigmentat... ORPHA:100
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Nail dyst... OMIM:601675
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Hypocalcemia, Hyponatremia, Myocarditis, Hyperkalemia, Hypertension ORPHA:544482
Hermansky-Pudlak Syndrome 8
Silver-gray hair, Epistaxis, Albinism, Myopic astigmatism, Ocular albinism, Astigmatism, Hypoplas... OMIM:614077
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Cataract OMIM:601811
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Blue irides OMIM:614613
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:602522
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Dahlberg-Borer-Newcomer Syndrome
Generalized hirsutism, Cataract, Anonychia, Hypocalcemia ORPHA:1563
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Cahmr Syndrome
Lamellar cataract, Generalized hypertrichosis OMIM:211770
Incontinentia Pigmenti
Hypopigmented skin patches, Supernumerary nipple, Abnormal hair morphology, Abnormal toenail morp... ORPHA:464
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... OMIM:609049
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypotension, Frontal balding, Shock, Hirsutism, Hyponatremia, Hyperkalemia, Hypochloremia, Hypovo... ORPHA:90794
Nephrogenic Diabetes Insipidus
Hypernatremia, Hypovolemia ORPHA:223
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level ORPHA:89938
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Hypopigmentation of hair, Congestive heart failure ORPHA:70472
Autoimmune Polyendocrinopathy Type 1
Cataract, Alopecia, Hypopigmented skin patches, Abnormal fingernail morphology, Opacification of ... ORPHA:3453
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Squalene Synthase Deficiency
Hypocholesterolemia, Abnormality of hair pigmentation, Decreased LDL cholesterol concentration, E... OMIM:618156
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Mucoepithelial Dysplasia, Hereditary
Sparse hair, Cataract, Alopecia, Coarse hair, Chronic monilial nail infection, Corneal neovascula... OMIM:158310
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia... ORPHA:3008
Liver Disease, Severe Congenital
Elevated circulating alpha-fetoprotein concentration, Dry hair, Increased circulating ferritin co... OMIM:619991
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613266
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Buphthalmos, Retinal dystrophy, Elevated circulating creatine kinase concentration ORPHA:370997
Papillorenal Syndrome
Cataract, Macular degeneration, Optic disc coloboma, Retinal coloboma, Elevated circulating creat... OMIM:120330
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Waardenburg Syndrome, Type 1
Hypopigmentation of the fundus, Premature graying of hair, Partial albinism, Thick eyebrow, White... OMIM:193500
Schwannomatosis, Vestibular
Cataract, Posterior subcapsular cataract, Inguinal freckling, Epiretinal membrane, Lisch nodules,... OMIM:101000
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Carney Complex, Type 1
Congestive heart failure, Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented ... OMIM:160980
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Werner Syndrome
Cataract, Alopecia of scalp, Retinal degeneration, Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
Vici Syndrome
Cataract, Dilated cardiomyopathy, Hypopigmentation of the skin, Hypopigmentation of the fundus, C... OMIM:242840
Knobloch Syndrome
Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Abnormal hair morphology, Abno... ORPHA:1571
Alport Syndrome 2, Autosomal Recessive
Cataract, Hypertension, Anterior lenticonus, Corneal erosion OMIM:203780
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, White hair, Ocular albinism, Generalized hypopigmentation ORPHA:2720
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Portal hypertension, Increased serum bile acid concentration, Hypona... ORPHA:731
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Choroideremia, Corneal opacity, Hypopigmentatio... ORPHA:2719
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Chediak-Higashi Syndrome
Iris hypopigmentation, Silver-gray hair, Hypopigmentation of the skin, Ocular albinism, Spontaneo... OMIM:214500
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Cataract, Gastrointestinal hemorrhage, Optic atrophy, Pulmonary embolism, Ectopia lentis, Cerebra... ORPHA:394
Microphthalmia, Syndromic 5
Cataract, Microcornea, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycinemia, Hypernatremia OMIM:620423
Oculo-Palato-Cerebral Syndrome
Aplasia/Hypoplasia of the nails, Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloi... ORPHA:2714
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ... ORPHA:238468
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia ORPHA:293987
Chondrodysplasia Punctata, Autosomal Dominant
Cataract, Sparse hair, Coarse hair OMIM:118650
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Cataract, Gastroi... ORPHA:247598
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot OMIM:618541
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hyperbilirubinemia OMIM:609734
Koolen-De Vries Syndrome
Abnormality of hair texture, Cataract, Hypopigmentation of hair ORPHA:96169
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hyperkalemia, Hypertension, Decreased circulating renin level OMIM:201750
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98794
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N... ORPHA:3322
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia... ORPHA:163746
Duane Retraction Syndrome
Microcornea, Irregular hyperpigmentation, Hypopigmented skin patches, Central heterochromia, Chor... ORPHA:233
Syndromic Diarrhea
Aortic regurgitation, Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittl... ORPHA:84064
Blau Syndrome
Cataract, Band keratopathy, Cystoid macular edema, Hypertension, Pericarditis, Iritis OMIM:186580
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypernatremia, Vasculitis... OMIM:619381
Hartsfield Syndrome
Hypernatremia OMIM:615465
Sim1-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris... ORPHA:177907
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98754
Magel2-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398069
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177901
Smith-Lemli-Opitz Syndrome
Cataract, Optic atrophy, Elevated circulating 7-dehydrocholesterol concentration, Sclerocornea, A... ORPHA:818
Degcags Syndrome
Hypopigmentation of the skin, Premature graying of hair, Hypertrichosis, Abnormal eyebrow morphol... OMIM:619488
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair ORPHA:1974
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Hypertension ORPHA:739
Menkes Disease
Sparse hair, Gastrointestinal hemorrhage, Intracranial hemorrhage, Woolly hair, Hypopigmentation ... ORPHA:565
Aplasia Cutis Congenita
ORPHA:1114
Aplasia Cutis Congenita, Nonsyndromic
OMIM:107600

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Bms1

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 Bms1.

No publications found that use IMPC mice or data for Bms1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Bms1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Bms1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Bms1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter