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Gene: Bms1 MGI:2446132

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Gene Summary

Name:
BMS1, ribosome biogenesis factor
Synonyms:
Bms1l

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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 lens morphology Bms1tm1b(EUCOMM)Hmgu HET Early adult 7.11×10-11
increased cardiac muscle contractility Bms1tm1b(EUCOMM)Hmgu HET   Early adult 7.68×10-06
preweaning lethality, complete penetrance Bms1tm1b(EUCOMM)Hmgu HOM   Early adult 5.66×10-07
abnormal retina morphology Bms1tm1b(EUCOMM)Hmgu HET   Early adult 7.00×10-06
abnormal coat/hair pigmentation Bms1tm1b(EUCOMM)Hmgu HET   Early adult 4.80×10-05
cataract Bms1tm1b(EUCOMM)Hmgu HET Early adult 9.47×10-10
decreased circulating sodium level Bms1tm1b(EUCOMM)Hmgu HET   Early adult 9.26×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

3 Images

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Electrocardiogram (ECG)

Waveform Image

22 Images

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X-ray

XRay Images Whole Body Lateral Orientation

1 Images

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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
Abnormality of skin pigmentation, Rod-cone dystrophy, Cataract OMIM:300719
Uncombable Hair Syndrome 2
Uncombable hair, Juvenile cataract, Pili canaliculi OMIM:617251
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation, Cataract, Optic atrophy ORPHA:2253
Woolly Hair
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormal retinal morphology,... ORPHA:170
Tietz Syndrome
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... ORPHA:42665
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... OMIM:126070
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Juvenile cataract, Arrhythmia OMIM:212500
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus OMIM:606574
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Nathalie Syndrome
Arrhythmia, Cataract ORPHA:2663
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Increased LDL cholesterol concentration, Fair hair, Developmental cataract OMIM:618808
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... OMIM:601706
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... OMIM:620152
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... OMIM:619165
Cataract 42
Cataract, Developmental cataract OMIM:115900
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy OMIM:615995
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Retinal detachment, Cataract, Optic nerve hypoplasia, Highly arched eyebrow, Retina... OMIM:620157
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism OMIM:606952
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o... OMIM:619947
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... OMIM:613731
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Corneal arcus, Cataract OMIM:618463
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Arrhythmia OMIM:616949
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Cataract, Elevated circulating creatine kinase c... OMIM:615184
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... OMIM:203200
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... OMIM:600059
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo... ORPHA:573
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:620125
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Retinal detachment, Poliosis, Abnormal ... ORPHA:3437
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Cataract, Retinal dystrophy, Chorioretin... OMIM:251270
Hypoadrenocorticism, Familial
Hyponatremia, Abnormality of skin pigmentation, Hyperkalemia OMIM:240200
Nathalie Syndrome
Abnormal EKG, Cataract OMIM:255990
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... ORPHA:254704
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... OMIM:616108
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Myopia 17, Autosomal Dominant
Retinal hole, Presenile cataracts OMIM:608367
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... OMIM:312700
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:203400
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... ORPHA:79433
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level OMIM:610600
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea... OMIM:300539
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair... ORPHA:33445
Colchicine Poisoning
Hyponatremia, Alopecia, Congestive heart failure, Myocarditis, Hypovolemia, Abnormal blood ion co... ORPHA:31824
Griscelli Syndrome Type 1
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Retinopathy, Iris hypopi... ORPHA:79476
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Maternally-Inherited Diabetes And Deafness
Cataract, Abnormal chorioretinal morphology, Congestive heart failure, Hypertension, Arrhythmia, ... ORPHA:225
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal degeneration, Abnormal hair morphology, Chorioretinal hyperpigmentation, ... ORPHA:414
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Rabin-Pappas Syndrome
Hyponatremia, Retinal detachment, Cataract, Optic nerve hypoplasia, Highly arched eyebrow, Retina... OMIM:620155
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension ORPHA:556037
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma ORPHA:35737
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hypotension OMIM:264350
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... ORPHA:449285
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:177735
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... OMIM:601813
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Alg8-Cdg
Hyponatremia, Retinopathy, Cataract, Optic atrophy ORPHA:79325
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d... OMIM:616188
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension ORPHA:556030
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Rod-cone d... OMIM:204200
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Hereditary Coproporphyria
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Extension of hair growth... ORPHA:79273
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... ORPHA:682
Infant Botulism
Hyponatremia, Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Mydriasis ORPHA:178478
Familial Dysautonomia
Hyponatremia, Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, C... ORPHA:1764
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninem... OMIM:204000
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology, Albinism ORPHA:2786
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Depi... ORPHA:352731
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia, Hypotension ORPHA:199296
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Morm Syndrome
Cataract, Retinal dystrophy, Retinal atrophy ORPHA:75858
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Clouston Syndrome
Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse e... OMIM:129500
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Hypotension ORPHA:91354
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... ORPHA:2334
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Abnormal fingernail morphology ORPHA:2278
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Hypovolemic shock, Increased circulating renin level, Arrhythmia ORPHA:171876
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Stickler Syndrome, Type V
Retinal detachment, Cataract, Vitreoretinopathy OMIM:614284
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... OMIM:617304
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of r... ORPHA:79432
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Hypertension, Retinal dystrophy ORPHA:3156
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Cataract, Optic atrophy, Hypertension, Hypokalemia, Hypocalcemia OMIM:617913
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Generalized hypopigmentation, Fair hair OMIM:113750
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Abnormality of retinal pigmentation, Juvenile cataract, Sparse hair ORPHA:1264
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy ORPHA:1369
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Flynn-Aird Syndrome
Alopecia of scalp, Alopecia, Cataract, Rod-cone dystrophy OMIM:136300
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... OMIM:618173
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Cataract 47
Microcornea, Cataract OMIM:612018
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Elevated circulating phytanic acid concentration, Pigmentary retinopathy, Increased cir... OMIM:614307
Porphyria Variegata
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hypertension, Hypopigmen... ORPHA:79473
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Pulmonary arterial hy... OMIM:613845
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy... ORPHA:1345
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Optic atrophy OMIM:608688
Hyperferritinemia With Or Without Cataract
Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract OMIM:600886
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hypovolemia, Hyperkalemia, Increased circulating renin lev... ORPHA:427
Hemochromatosis, Type 4
Cataract, Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomy... OMIM:606069
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Renal Hypoplasia, Bilateral
Hyponatremia, Hypertension, Astigmatism, Hyperkalemia ORPHA:97362
Intermediate Uveitis
Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ... ORPHA:279914
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Hy... ORPHA:247353
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Cataract, Abnormal cornea morphology, Hypophosphatemia, Retinopathy, Iris colo... ORPHA:2611
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cardiomyopathy, Cataract, Elevated circulating creatine kinase concentration OMIM:615352
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Neuroleptic Malignant Syndrome
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... ORPHA:94093
Acute Adrenal Insufficiency
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Sparse axillary hair, Myocardial infarction... ORPHA:95409
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypovolemia, Hypophosp... ORPHA:411634
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Whipple Disease
Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Generalized hyperpigmentation, Myocardia... ORPHA:3452
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Cholera
Hyponatremia, Tachycardia, Abnormal blood ion concentration, Hypovolemic shock, Hypokalemia, Hypo... ORPHA:173
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Spotty hypopigmentation, H... ORPHA:1867
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Erythrokeratodermia Variabilis
Alopecia, Cataract, Corneal opacity, Hypermelanotic macule, Abnormal hair morphology, Abnormality... ORPHA:317
Methionine Malabsorption Syndrome
White hair, Blue irides, Positive ferric chloride test OMIM:250900
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Cataract, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse ... OMIM:615704
Chédiak-Higashi Syndrome
Hyponatremia, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Hypertriglycerid... ORPHA:167
Phenylketonuria
Maternal hyperphenylalaninemia, Cataract, Blue irides, Hyperphenylalaninemia, Generalized hypopig... OMIM:261600
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperpigmentation of the skin, Hyperkalemia, Increased circulating renin level, Hyp... ORPHA:90791
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... ORPHA:100924
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Familial Glucocorticoid Deficiency
Hyponatremia, Generalized hyperpigmentation, Hyperkalemia, Hypotension, Hypertrophic cardiomyopathy ORPHA:361
Necrotizing Enterocolitis
Hyponatremia, Shock, Bradycardia, Hypotension ORPHA:391673
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Adrenal Hypoplasia, Congenital
Hyponatremia, Hyperpigmentation of the skin OMIM:300200
Cystinosis, Nephropathic
Hyponatremia, Hypopigmentation of hair, Retinopathy, Hypomagnesemia, Retinal pigment epithelial m... OMIM:219800
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Late-Onset Isolated Acth Deficiency
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Hyperuricemia, Hypotension, V... ORPHA:199299
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma OMIM:601794
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... ORPHA:79431
Legionnaires Disease
Hyponatremia, Pericarditis, Myocarditis, Hypotension, Arrhythmia ORPHA:549
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Alopecia, Alopecia totalis, Hyperkalemia, Nail dystrophy, Hypotension, Abnormality ... ORPHA:293978
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Cerebral vasculitis ORPHA:83601
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Cataract, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Conj... OMIM:612843
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Cataract, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Cataract, Iris hypopigmentation ORPHA:67048
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... ORPHA:999
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... OMIM:203100
Proximal Myotonic Myopathy
Cataract ORPHA:606
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Cataract, Alopecia totalis ORPHA:1366
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... OMIM:613810
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Retinal thinning, Asteroid hyalosis OMIM:132450
Mirage Syndrome
Hyponatremia, Achalasia, Hyperkalemia, Intracranial hemorrhage OMIM:617053
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Sympathetic Ophthalmia
Papilledema, Alopecia, Cataract, Retinal detachment, Poliosis, Vitreous floaters, Vitritis, Retin... ORPHA:79098
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated circulating creatine kinase concentration, Optic neuropathy, Dilated cardi... OMIM:610505
Pituitary Apoplexy
Hyponatremia, Hypertension, Hypotension, Mydriasis ORPHA:95613
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Shigellosis
Hyponatremia, Myocarditis, Abnormal blood ion concentration, Hypovolemic shock, Conjunctivitis, C... ORPHA:810
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Autosomal Recessive Stickler Syndrome
Retinal detachment, Vitreoretinopathy, Cataract, Astigmatism ORPHA:250984
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy, Cataract, Elevated circulating phytanic acid concentration, Rod-cone dystrophy OMIM:614879
Refsum Disease, Classic
Cataract, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardiomyopa... OMIM:266500
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Hypertrophic cardiomyopathy, Cataract ORPHA:3173
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen... OMIM:615986
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... OMIM:612109
Sheehan Syndrome
Hyponatremia, Orthostatic hypotension, Sparse axillary hair, Sparse pubic hair, Bradycardia, Palp... ORPHA:91355
Alg12-Cdg
Hyponatremia, Retinal detachment, Low posterior hairline, Hypoalbuminemia, Small nail, Hypocholes... ORPHA:79324
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Microcor... OMIM:221900
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... ORPHA:529808
Acute Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... ORPHA:529799
Galactose Mutarotase Deficiency
Cataract, Hypergalactosemia ORPHA:570422
Classic Phenylketonuria
Hypopigmentation of hair, Cataract, Hypopigmentation of the skin, Hyperphenylalaninemia ORPHA:79254
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy OMIM:604278
Holoprosencephaly
Hyponatremia, Highly arched eyebrow, Synophrys, Optic atrophy, Chorioretinal coloboma, Arrhythmia... ORPHA:2162
Pellagra-Like Syndrome
Cataract OMIM:260650
Weill-Marchesani Syndrome
Cataract, Ectopia lentis, Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis ORPHA:3449
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:613090
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... ORPHA:280921
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Sparse scalp hair, Cataract, Corneal opacity, Hypoammonemia, Chorioretinal dysplasi... ORPHA:534
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cataract, Hematochezia, Hypokalemia, Hypocalcemia, Nail dysplasia, Hypomagnesemia, Nail... OMIM:175500
Cataract 6, Multiple Types
Posterior polar cataract, Choroideremia, Developmental cataract OMIM:116600
Addison Disease
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Sparse axillary hair, Hyperkalemia, Increas... ORPHA:85138
Ifap Syndrome 2
Cataract, Keratitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Sparse hair OMIM:619016
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Cataract 16, Multiple Types
Posterior polar cataract, Retinal dystrophy, Lenticonus, Developmental cataract OMIM:613763
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment, Cataract, Elevated circulating creatine kinase concen... OMIM:615181
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Bone spicule pigmentation of the retina, Rhegmatogenous reti... ORPHA:364055
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Pigmentary retinopathy, Achalas... OMIM:609033
Griscelli Syndrome Type 2
Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop... ORPHA:79477
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... ORPHA:3214
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia, Hyperpigmentation of the skin ORPHA:90790
Infantile Refsum Disease
Cataract, Elevated circulating phytanic acid concentration, Optic atrophy, Cardiomyopathy, Arrhyt... ORPHA:772
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Achalasia, Cataract, Thick eyebrow, Developmental cataract ORPHA:436174
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Cataract 48
Cataract OMIM:618415
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Iris transillum... OMIM:619172
Cronkhite-Canada Syndrome
Alopecia, Cataract, Abnormal fingernail morphology, Generalized hyperpigmentation, Hypoplastic to... ORPHA:2930
Hereditary Mucoepithelial Dysplasia
Alopecia, Cataract, Corneal dystrophy, Fine hair, Sparse hair ORPHA:1839
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Generalized hyperpigmentation, Hyperkalemia, Hypovolemia, Abnormal circulating chol... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Generalized hyperpigmentation, Hyperkalemia, Hypovolemia, Abnormal circulating chol... ORPHA:289548
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea... ORPHA:1806
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... OMIM:203300
Hermansky-Pudlak Syndrome 3
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Autoimmune Hypoparathyroidism
Prolonged QT interval, Cataract, Ventricular arrhythmia, Abnormal left ventricular function, Hype... ORPHA:36913
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Myocardial infarction, Elevated circulating creatinine concentration, Hypertension,... ORPHA:90038
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair OMIM:229200
Isolated Ectopia Lentis
Hypertension, Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Aniridia 3
Aniridia, Cataract OMIM:617142
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Adenohypophysitis
Hyponatremia, Orthostatic hypotension ORPHA:95512
Incontinentia Pigmenti
Ridged nail, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic, patchy alopeci... OMIM:308300
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Familial Isolated Hypoparathyroidism
Arrhythmia, Cataract, Hypocalcemia ORPHA:2238
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair, Hypernatremia, Hypoalbuminemia, Pulmonic stenosis OMIM:615508
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Nail dysplasia, Chorioretinal coloboma, I... ORPHA:139471
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... OMIM:300578
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Cataract, Hypoalbuminemia, Reduced systolic function OMIM:618805
Panhypophysitis
Hyponatremia, Orthostatic hypotension ORPHA:95513
Joubert Syndrome 9
Cataract, Retinal dystrophy, Astigmatism OMIM:612285
Brittle Cornea Syndrome
Retinal detachment, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal... ORPHA:90354
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla... OMIM:611584
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Rod-cone dystrophy, Subcapsular cataract, Optic atrophy, Cataract OMIM:612674
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... OMIM:615751
Acute Intermittent Porphyria
Hyponatremia, Hypertension, Tachycardia ORPHA:79276
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hypovolemia, Hyperkalemia, Pulmonary arterial hypertension, H... ORPHA:275761
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Obesity And Hypopigmentation
Red hair OMIM:620195
Phacoanaphylactic Uveitis
Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, Hyphema, Retinal a... ORPHA:209959
Japanese Encephalitis
Hyponatremia ORPHA:79139
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypertension, Hypokalemia, Increased circulating renin level, Hypoma... ORPHA:89938
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... OMIM:268315
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Optic atrophy, Developmental ca... ORPHA:93400
Ataxia-Telangiectasia
Hypopigmentation of hair, Telangiectasia of the skin, Premature graying of hair, Multiple cafe-au... ORPHA:100
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Cataract, Partial albinism, Epistaxis, Ocu... ORPHA:79430
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Myocarditis, Hyperkalemia, Hypertension, Hypocalcemia, Hypertensive crisis ORPHA:544482
Trichothiodystrophy 1, Photosensitive
Cataract, Brittle hair, Trichoschisis, Fine hair, Microcornea, Telangiectasia, Keratoconjunctivit... OMIM:601675
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Cataract OMIM:601811
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Albinism, Silver-gray hair, Myopic astigma... OMIM:614077
Squalene Synthase Deficiency
Optic nerve hypoplasia, Increased circulating farnesol concentration, Abnormality of hair pigment... OMIM:618156
Dahlberg-Borer-Newcomer Syndrome
Anonychia, Cataract, Hypocalcemia, Generalized hirsutism ORPHA:1563
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:602522
Cahmr Syndrome
Lamellar cataract, Generalized hypertrichosis OMIM:211770
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Blue irides OMIM:614613
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Incontinentia Pigmenti
Abnormality of skin pigmentation, Abnormal toenail morphology, Abnormality of the nail, Alopecia,... ORPHA:464
Nephrogenic Diabetes Insipidus
Hypernatremia, Hypovolemia ORPHA:223
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Shock, Frontal balding, Hyperkalemia, Hypovolemia, Hypochloremia, Hypotension, Hirs... ORPHA:90794
Autoimmune Polyendocrinopathy Type 1
Alopecia, Cataract, Abnormal fingernail morphology, Hypopigmented skin patches, Opacification of ... ORPHA:3453
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Hypopigmentation of hair, Congestive heart failure ORPHA:70472
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... ORPHA:3008
Liver Disease, Severe Congenital
Hyponatremia, Dry hair, Elevated circulating alpha-fetoprotein concentration, Increased circulati... OMIM:619991
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Buphthalmos, Cataract, Retinal dystrophy, Elevated circulating creatine kinase concentration ORPHA:370997
Mucoepithelial Dysplasia, Hereditary
Alopecia, Cataract, Keratoconjunctivitis, Melena, Coarse hair, Nail dystrophy, Opacification of t... OMIM:158310
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
Papillorenal Syndrome
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... OMIM:120330
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha... OMIM:193500
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Carney Complex, Type 1
Congestive heart failure, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesion... OMIM:160980
Werner Syndrome
Cataract, Hypertriglyceridemia, Elevated hemoglobin A1c, Alopecia of scalp, Retinal degeneration OMIM:277700
Vici Syndrome
Hypopigmentation of hair, Cataract, Elevated circulating creatine kinase concentration, Macular a... OMIM:242840
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation ORPHA:2720
Alport Syndrome 2, Autosomal Recessive
Hypertension, Corneal erosion, Cataract, Anterior lenticonus OMIM:203780
Knobloch Syndrome
Retinal detachment, Cataract, Ectopia lentis, Abnormal hair morphology, Abnormal vitreous humor m... ORPHA:1571
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Gastrointestinal hemorrhage, Portal hypertension, Hypertension, Increased serum bil... ORPHA:731
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Chediak-Higashi Syndrome
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Gi... OMIM:214500
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Choroideremia, Iris hypopig... ORPHA:2719
Classic Homocystinuria
Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Sparse scalp hair, Cataract, Re... ORPHA:394
Microphthalmia, Syndromic 5
Microcornea, Cataract, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Hyperkalemia ORPHA:293987
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Aplasia/Hypopl... ORPHA:2714
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair, Cataract OMIM:118650
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti... ORPHA:238468
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Abnormal pupil mor... ORPHA:233
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hyperbilirubinemia OMIM:609734
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hypertension, Hyperkalemia, Decreased circulating renin level OMIM:201750
Koolen-De Vries Syndrome
Hypopigmentation of hair, Cataract, Abnormality of hair texture ORPHA:96169
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... ORPHA:3322
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... ORPHA:163746
Syndromic Diarrhea
Aortic regurgitation, Hypopigmentation of hair, Brittle hair, Abnormality of iron homeostasis, Un... ORPHA:84064
Blau Syndrome
Pericarditis, Cataract, Band keratopathy, Hypertension, Iritis, Cystoid macular edema OMIM:186580
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Vasculitis in the skin, Elevated circulating C-reactive protein c... OMIM:619381
Hartsfield Syndrome
Hypernatremia OMIM:615465
Prader-Willi Syndrome
Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... OMIM:176270
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypopigmentation of the skin ORPHA:398079
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... ORPHA:177907
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypopigmentation of the skin ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177901
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Cataract, Sclerocornea, Abnormal eyelash morphology, Optic atrophy, Ele... ORPHA:818
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Tachycardia, Abnormal eyelash morphology, ... OMIM:619488
Prader-Willi Syndrome
Hypertension, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Intracranial hemorrhage, Sparse hair, Wool... 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

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