Gene: Fam151b MGI:1921192

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Gene Summary

Name:
family with sequence similarity 151, member B
Synonyms:
4930405M20Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
increased neutrophil cell number Fam151btm1b(EUCOMM)Hmgu HOM Early adult 1.21×10-05
abnormal retina morphology Fam151btm1b(EUCOMM)Hmgu HOM Early adult 1.50×10-22

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Not available
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote Not available
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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 Hind Leg and Hip

20 Images

Echo

M-Mode Images

75 Images

X-ray

XRay Images Whole Body Dorso Ventral

21 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

3 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Fam151b mutations

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

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

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

The table below shows human diseases predicted to be associated to Fam151b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Persistent Placoid Maculopathy
Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H... ORPHA:97341
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation ORPHA:35612
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Ceroid Lipofuscinosis, Neuronal, 7
Pigmentary retinopathy, Cerebral atrophy, Neurodegeneration, Cerebellar atrophy, Optic atrophy, R... OMIM:610951
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Neuropathy, Ataxia, And Retinitis Pigmentosa
Rod-cone dystrophy, Retinal pigment epithelial mottling, Retinopathy, Corticospinal tract atrophy OMIM:551500
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618697
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... OMIM:617123
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Retinitis Pigmentosa 7
Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Retinitis Pigmentosa 9
Macular atrophy, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180104
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:619007
Retinitis Pigmentosa 2
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Retinitis Pigmentosa 6
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312612
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, C... OMIM:251270
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Retinitis Pigmentosa 4
Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180100
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Cerebral atrophy, Pigmentary retinopathy OMIM:619090
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... ORPHA:49382
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli... OMIM:611040
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Fundus atrophy OMIM:204100
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Oliver-Mcfarlane Syndrome
Central heterochromia, Pigmentary retinopathy, Retinal degeneration OMIM:275400
Retinitis Pigmentosa 41
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:612095
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Bull's eye... OMIM:604116
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Eem Syndrome
Abnormality of retinal pigmentation, Retinopathy, Macular dystrophy ORPHA:1897
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, W... ORPHA:79435
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Chorioretinal coloboma, Abnormality of retinal pigmentation, Macular coloboma ORPHA:2196
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Retinitis Pigmentosa 83
Asteroid hyalosis, Attenuation of retinal blood vessels, Cystoid macular edema, Vitreous floaters... OMIM:618173
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Retinitis Pigmentosa 58
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613617
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Macular atrophy, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, R... OMIM:145350
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Abnormality of the optic nerve, Ret... OMIM:605549
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Fundus atrophy OMIM:204000
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Cofs Syndrome
Cerebral cortical atrophy, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1466
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor OMIM:617121
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy OMIM:268050
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Geographic atrophy, Optic disc pallor OMIM:180105
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Narp Syndrome
Retinal pigment epithelial mottling, Cerebral cortical atrophy, Corticospinal tract atrophy, Reti... ORPHA:644
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:613464
Sjögren-Larsson Syndrome
Generalized hyperpigmentation, Macular degeneration, Abnormality of retinal pigmentation, Retinop... ORPHA:816
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis ORPHA:1390
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Retinal degeneration, Retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Abnormality of retinal pigmentation, Albinism, Freckling, Hypopigmentation... ORPHA:79434
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Opt... OMIM:600132
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology ORPHA:791
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Enhanced S-Cone Syndrome
Retinoschisis, Macular edema, Vitreoretinopathy, Pigmentary retinopathy OMIM:268100
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Juvenile Paget Disease
Melanocytic nevus, Abnormality of retinal pigmentation, Optic atrophy ORPHA:2801
Retinitis Punctata Albescens
Macular atrophy, Retinal atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of re... ORPHA:52427
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Cone-Rod Dystrophy 2
Retinal pigment epithelial atrophy, Chorioretinal atrophy, Cone/cone-rod dystrophy, Macular hyper... OMIM:120970
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Retinal Venous Beading
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Congenital Muscular Dystrophy With Intellectual Disability
Cerebral cortical atrophy, Facial palsy, Pigmentary retinopathy ORPHA:370968
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cerebellar atrophy ORPHA:3085
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration, Acanthocytosis OMIM:615558
Acute Zonal Occult Outer Retinopathy
Vitritis, Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal pigment epithelial... ORPHA:284454
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy ORPHA:255241
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretinal atrophy, Re... ORPHA:5
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Cerebral atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:268020
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Brain atrophy OMIM:619059
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Cerebral cortical atrophy, Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Orthostatic hypotension OMIM:606721
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Attenuation of retinal blood... OMIM:609033
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cerebral cortical atrophy, Facial palsy, Pigmentary retinopathy OMIM:613156
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615986
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Abnormality of retinal pigmentation, Melanocytic nevus, Numerous congenit... ORPHA:2481
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation OMIM:108145
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Cerebral atrophy, Retinal degeneration, Cerebellar atrophy, Optic disc pa... ORPHA:79264
Leigh Syndrome
Optic atrophy, Pigmentary retinopathy OMIM:256000
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Vici Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Cerebral cortical atrophy, Opti... ORPHA:1493
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Classic Pantothenate Kinase-Associated Neurodegeneration
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor ORPHA:216866
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology, Hypopig... ORPHA:2715
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Bone spicule pigmentation of ... ORPHA:88628
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Blotching pigmentation of the... OMIM:560000
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Zika Virus Disease
Macular atrophy, Absent foveal reflex, Optic disc hypoplasia, Chorioretinal atrophy, Retinal pigm... ORPHA:448237
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Xeroderma Pigmentosum, Complementation Group B
Freckling, Pigmentary retinopathy, Cerebellar atrophy, Decreased nerve conduction velocity, Optic... OMIM:610651
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Cerebral atrophy OMIM:222300
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation, Optic atrophy ORPHA:585
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:2235
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Abnormality of retinal pigmentation, Generalized hypopigmentation, Multiple ca... ORPHA:1969
Micro Syndrome
Retinal coloboma, Cerebral cortical atrophy, Abnormality of retinal pigmentation, Optic atrophy ORPHA:2510
Cohen Syndrome
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Optic atrophy, Chorioretinal dys... OMIM:216550
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Retinal hemorrhage ORPHA:88
Mucopolysaccharidosis, Type Ii
Abnormality of retinal pigmentation, Neurodegeneration, Papilledema OMIM:309900
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Aceruloplasminemia
Abnormality of retinal pigmentation, Macular degeneration, Retinal degeneration ORPHA:48818
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy OMIM:214110
Prolidase Deficiency
Abnormality of retinal pigmentation, White forelock ORPHA:742
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Decreased amplitude of sensory action potentials, Retinal pigment epitheli... OMIM:618733
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:220110
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Abnormality of the optic nerve, Abnormal neutrophil count, Spleno... ORPHA:3226
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy ORPHA:436271
Usher Syndrome
Cerebral cortical atrophy, Abnormality of retinal pigmentation ORPHA:886
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy OMIM:609015
Hardikar Syndrome
Chorioretinal degeneration, Mottled pigmentation, Pigmentary retinopathy OMIM:612726
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:96180
Coffin-Lowry Syndrome
Cerebral cortical atrophy, Abnormality of retinal pigmentation, Optic atrophy ORPHA:192
Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Retinal flecks, Pallidal degeneration, Bull's eye maculopathy, Retinal de... ORPHA:157850
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Vitiligo, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy OMIM:240300
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Pigmentary retinopathy, Optic disc pallor ORPHA:502423
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Cohen Syndrome
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Optic atrophy, Chorioretin... ORPHA:193
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... ORPHA:790
Alstrom Syndrome
Cone/cone-rod dystrophy, Pigmentary retinopathy OMIM:203800
Classic Homocystinuria
Abnormality of retinal pigmentation, Optic atrophy, Retinal detachment ORPHA:394
Aicardi Syndrome
Abnormality of skin pigmentation, Chorioretinal coloboma, Abnormality of retinal pigmentation, Op... ORPHA:50
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation, Abnormality of peripheral somatosensory evoked potentials, A... ORPHA:466768
Autosomal Dominant Cerebellar Ataxia
Macular degeneration, Pigmentary retinopathy, Retinal degeneration ORPHA:99
Werner Syndrome
Abnormality of retinal pigmentation, White forelock, Premature graying of hair ORPHA:902
Chédiak-Higashi Syndrome
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clump... ORPHA:167
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy ORPHA:71212
Cockayne Syndrome Type 1
Pigmentary retinopathy, Absent brainstem auditory responses, Abnormality of peripheral nerve cond... ORPHA:90321
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Abnormality of t... ORPHA:2526
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy OMIM:266270
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic disc pallor OMIM:214100
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Global brain atrophy, Neurodegeneration, Retinal degeneration, Hyperpigme... OMIM:234200
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cerebral cortical atrophy, Pigmentary retinopathy OMIM:277400
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pigmentary retinopathy, Cerebral atrophy, Atrophy of the spinal cord, Retinal degeneration, Abnor... ORPHA:79282
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Optic atrophy, Brain atrophy ORPHA:505248
Melas
Vitiligo, Pigmentary retinopathy, Brain atrophy, Cerebral cortical atrophy, Optic atrophy ORPHA:550
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Papilledema, Abnormal foveal morphology, Retinal degeneratio... ORPHA:580
Abetalipoproteinemia
Hypopigmentation of the fundus, Abnormality of retinal pigmentation, Rod-cone dystrophy ORPHA:14
Cockayne Syndrome
Abnormality of retinal pigmentation, Retinal atrophy, Pigmentary retinopathy, Cerebral atrophy, R... ORPHA:191
Trisomy 18
Abnormality of retinal pigmentation ORPHA:3380
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy OMIM:618460
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:255210
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, A... ORPHA:2556
Cockayne Syndrome A
Abnormality of skin pigmentation, Pigmentary retinopathy, Retinal pigment epithelial mottling, Ce... OMIM:216400
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Aganglionic megacolon ORPHA:175
Neurofibromatosis Type 1
Chorioretinal coloboma, Abnormality of retinal pigmentation, Freckling, Heterochromia iridis, Mel... ORPHA:636
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy OMIM:309801
Mucopolysaccharidosis Type 2, Severe Form
Abnormality of retinal pigmentation, Abnormal foveal morphology, Papilledema, Optic atrophy, Reti... ORPHA:217085
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormality of retinal pigmentation, Abnormal foveal morphology, Papilledema, Optic atrophy, Reti... ORPHA:217093
Mucopolysaccharidosis Type 3
Pigmentary retinopathy, Retinal degeneration, Central nervous system degeneration, Optic atrophy,... ORPHA:581
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Pigmentary retinopathy, Cerebral atrophy, Cone/cone-rod dystrophy, Cerebellar atrophy, Optic atro... ORPHA:404454
Cancer-Associated Retinopathy
Vitritis, Retinal atrophy, Diffuse cerebellar atrophy, Retinal pigment epithelial atrophy, Granul... ORPHA:71505
Cystinosis, Nephropathic
Hypopigmentation of hair, Pigmentary retinopathy, Retinal pigment epithelial mottling, Cerebral a... OMIM:219800
Cockayne Syndrome B
Abnormality of skin pigmentation, Pigmentary retinopathy, Cerebral atrophy, Abnormal auditory evo... OMIM:133540
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Brain abscess, Liver abscess, Anemia ORPHA:54251
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Tubulointerstitial Nephritis And Uveitis Syndrome
Abnormality of retinal pigmentation, Cystoid macular edema, Papilledema, Choroidal neovasculariza... ORPHA:91500
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Relapsing Fever
Leukocytosis, Thrombocytopenia, Anemia, Leukopenia, Neutrophilia ORPHA:91547
Proteus Syndrome
Abnormality of skin pigmentation, Chorioretinal coloboma, Abnormality of retinal pigmentation, Ce... ORPHA:744
Alagille Syndrome 1
Chorioretinal atrophy, Pigmentary retinopathy OMIM:118450
Adult-Onset Still Disease
Neutrophilia, Leukocytosis, Splenomegaly ORPHA:829
Hyper-Igd Syndrome
Leukocytosis, Splenomegaly, Neutrophilia, Hepatosplenomegaly, Rod-cone dystrophy, Optic disc pallor OMIM:260920
Pearson Syndrome
Hyperpigmentation of the skin, Cafe-au-lait spot, Pigmentary retinopathy ORPHA:699
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased proportion of CD4-positive T cells, Leukocytosis OMIM:617099
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Premature graying of hair, Patchy hypo- and hyperpigmentatio... ORPHA:79474
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Leukopenia, Leukocytosis ORPHA:36238
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Anemia, Sterile abscess, Neutro... ORPHA:3243
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly OMIM:612852
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Optic atrophy, Pigmentary retinopathy ORPHA:3455
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia, Anemia, Splenomegaly, Neutrophilia, Hepatosplenom... ORPHA:3260
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Leukocytosis, Anemia, Microcytic anemia ORPHA:99843
Japanese Encephalitis
Neutrophilia ORPHA:79139
Familial Mediterranean Fever
Neutrophilia, Splenomegaly, Leukocytosis OMIM:249100

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 Fam151b

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 Fam151b.

No publications found that use IMPC mice or data for Fam151b.

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MGI Allele Allele Type Produced
Fam151btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Fam151btm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (post-Cre) Mice

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