Gene Summary

Name:
glycoprotein (transmembrane) nmb
Synonyms:
DC-HIL,  Osteoactivin,  Dchil

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 fasting circulating glucose level Gpnmbtm1.1(KOMP)Vlcg HET Early adult 1.19×10-09
increased hemoglobin content Gpnmbtm1.1(KOMP)Vlcg HOM Early adult 4.94×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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
Bone marrow  Section images heterozygote 50% (1 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 50% (1 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta 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)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Heart 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 Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas 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 Not available
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)
Testis 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)
Urinary bladder 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)
Vesicular gland N/A heterozygote Not available
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
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.37% (2 of 547)
aorta 0.0%
bone marrow 0.0%
brain 0.72% (4 of 556)
brainstem 0.36% (2 of 557)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 553)
cerebellum 0.55% (3 of 546)
cerebral cortex 0.36% (2 of 555)
epididymis 14.49% (20 of 138)
esophagus 1.57% (6 of 383)
eye 0.0%
heart 0.36% (2 of 559)
hippocampus 0.55% (3 of 544)
hypothalamus 0.36% (2 of 550)
kidney 4.83% (27 of 559)
large intestine 5.25% (29 of 552)
liver 0.0%
lower urinary tract 0.18% (1 of 552)
lung 0.36% (2 of 550)
lymph node 0.18% (1 of 557)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.37% (2 of 545)
ovary 0.18% (1 of 560)
oviduct 0.0%
pancreas 0.91% (5 of 550)
peripheral nervous system 0.18% (1 of 548)
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 1.97% (11 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.4% (30 of 556)
spinal cord 0.54% (3 of 557)
spleen 0.55% (3 of 543)
stomach 3.78% (21 of 556)
striatum 0.55% (3 of 546)
submandibular gland 1.53% (2 of 131)
testis 1.09% (6 of 550)
thalamus 0.0%
thymus 0.18% (1 of 551)
thyroid gland 3.1% (17 of 549)
trachea 0.54% (3 of 555)
urinary bladder 0.0%
uterus 0.37% (2 of 541)
vascular system 0.0%
vesicular gland 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 510)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

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 Lateral Orientation

18 Images

X-ray

XRay Images Whole Body Dorso Ventral

18 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Lateral Orientation

18 Images

Adult LacZ

LacZ Images Section

19 Images

X-ray

XRay Images Forepaw

18 Images

Sleep Wake

Wake state (bmp file)

24 Images

Eye Morphology

Images Slit Lamp

1 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

18 Images

Auditory Brain Stem Response

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

15 Images

Electroretinography

Rod waveform (pdf format)

9 Images

Electroretinography

Cone waveform (pdf format)

9 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Amyloidosis, Primary Localized Cutaneous, 3
Hypermelanotic macule OMIM:617920

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Griscelli Syndrome Type 3
Partial albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:79478
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Waardenburg Syndrome, Type 2D
Heterochromia iridis OMIM:608890
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... ORPHA:69736
Tietz Albinism-Deafness Syndrome
White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation OMIM:103500
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris tran... OMIM:619165
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Waardenburg Syndrome, Type 4B
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613265
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Choroideremia ORPHA:99000
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation ORPHA:370097
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Glaucoma 1, Open Angle, A
Abnormal iris vasculature OMIM:137750
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Urocanase Deficiency
Fair hair, Blue irides OMIM:276880
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Albinism-Deafness Syndrome
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... ORPHA:998
Anterior Segment Dysgenesis 3
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... OMIM:601631
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Late-Onset Retinal Degeneration
Abnormal suspensory ligament of lens morphology, Chorioretinal atrophy, Abnormal anterior eye seg... ORPHA:67042
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
Waardenburg Syndrome, Type 4A
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:277580
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Waardenburg Syndrome, Type 2A
Hypoplastic iris stroma, Numerous pigmented freckles, Partial albinism, Albinism, White eyebrow, ... OMIM:193510
Collagenoma, Familial Cutaneous
Iris atrophy OMIM:115250
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Iris coloboma, Whit... OMIM:601706
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Weill-Marchesani Syndrome 4
Phakodonesis, Iridodonesis, Ectopia lentis OMIM:613195
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Facial Spasm
Anisocoria OMIM:134300
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosomes in melanocytes, Iris h... ORPHA:54
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Iris hypopigmentation, Abnormal morphology of the chor... ORPHA:352731
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... OMIM:203200
Griscelli Syndrome Type 1
Partial albinism, Iris hypopigmentation, Premature graying of hair, White hair ORPHA:79476
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, Whi... OMIM:172800
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea OMIM:610202
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... ORPHA:895
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism ORPHA:231183
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract ORPHA:67048
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Hypopigmented skin patches, Heterochromia ... ORPHA:2885
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Spherophakia, Shallow anterior chamber, Spontaneous conjunctival filtering bleb, Cataract, Anteri... OMIM:601552
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Ocular albinism OMIM:601220
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasia of the iris, Persistent p... ORPHA:1067
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Astigmatism, Iris hypopig... ORPHA:999
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:177910
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Biemond Syndrome Ii
Iris coloboma OMIM:210350
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Osteoporosis-Pseudoglioma Syndrome
Cataract, Absent anterior chamber of the eye, Iris atrophy OMIM:259770
Oliver-Mcfarlane Syndrome
Central heterochromia, Pigmentary retinopathy OMIM:275400
Usher Syndrome Type 1
Iris hypopigmentation, Cataract ORPHA:231169
Phenylketonuria
Cataract, Blue irides, Fair hair, Generalized hypopigmentation OMIM:261600
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Klippel-Feil Syndrome 3, Autosomal Dominant
Iris coloboma, Chorioretinal coloboma OMIM:613702
Oculocutaneous Albinism Type 2
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... ORPHA:79432
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism OMIM:300500
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Multiple System Atrophy 1, Susceptibility To
Iris atrophy OMIM:146500
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Edict Syndrome
Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract OMIM:614303
Congenital Microcoria
Hypoplastic iris stroma, Nuclear cataract, Corneal stromal edema, Megalocornea, Astigmatism, Iris... ORPHA:566
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Microcornea, Iris hypopigmentation, Iris coloboma, Freckling, Anterior ... ORPHA:3214
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:411515
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Waardenburg Syndrome, Type 3
Blue irides, Partial albinism, Heterochromia iridis, White forelock, Premature graying of hair, H... OMIM:148820
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Waardenburg Syndrome, Type 2E
Ocular albinism, Blue irides, Iris hypopigmentation, White eyebrow, Hypoplasia of the iris, White... OMIM:611584
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Acrofrontofacionasal Dysostosis 1
Iris atrophy OMIM:201180
Hermansky-Pudlak Syndrome 11
Ocular albinism, Fair hair, Albinism, Iris transillumination defect, Melanocytic nevus OMIM:619172
Oculocutaneous Albinism
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... ORPHA:55
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... ORPHA:79434
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... ORPHA:79431
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Waardenburg Syndrome, Type 4C
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613266
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Blue irides, Hypopigmentation of hair, Astigmatism, Albinism, Absent skin pigmen... OMIM:203100
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Coats Disease
Leukocoria OMIM:300216
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Juvenile Xanthogranuloma
Iritis, Multiple cafe-au-lait spots, Uveitis, Asymmetry of iris pigmentation ORPHA:158000
Oculocutaneous Albinism Type 5
Ocular albinism ORPHA:370091
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Iris coloboma, Posterior lenticonus, Microcornea, Chorioretinal coloboma ORPHA:231736
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Griscelli Syndrome Type 2
Partial albinism, Iris hypopigmentation, Premature graying of hair, Hypopigmentation of hair ORPHA:79477
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Piebaldism
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Piebaldism, White... ORPHA:2884
Hermansky-Pudlak Syndrome 5
Albinism, Ocular albinism, Iris transillumination defect OMIM:614074
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Blue irides OMIM:614613
Mental Retardation, Buenos Aires Type
Fair hair, Blue irides OMIM:249630
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Frontofacionasal Dysplasia
Limbal dermoid, Microcornea, Iris coloboma, Cataract, Brushfield spots ORPHA:1791
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Riboflavin Transporter Deficiency
Iris hypopigmentation ORPHA:97229
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Free Sialic Acid Storage Disease
Iris hypopigmentation, Abnormality of skin pigmentation ORPHA:834
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens ORPHA:85194
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis OMIM:266140
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation, Cataract, White hair ORPHA:2720
Woolly Hair
Hypopigmentation of hair, Abnormal pupil morphology, Cataract ORPHA:170
Edinburgh Malformation Syndrome
Brushfield spots ORPHA:1895
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Hermansky-Pudlak Syndrome 7
Albinism, Ocular albinism OMIM:614076
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Aortic Aneurysm, Familial Thoracic 4
Abnormal iris pigmentation OMIM:132900
Deafness-Hypogonadism Syndrome
Heterochromia iridis ORPHA:90646
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:98795
Usher Syndrome Type 2
Iris hypopigmentation, Cataract ORPHA:231178
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Griscelli Syndrome
Silver-gray hair, Iris hypopigmentation, Premature graying of hair, Hypopigmented skin patches, W... ORPHA:381
Attenuated Chédiak-Higashi Syndrome
Ocular albinism, Generalized hypopigmentation ORPHA:352723
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, P... ORPHA:894
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Cafe-au-lait spot, Blue irides ORPHA:3041
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Waardenburg Syndrome, Type 1
Hypoplastic iris stroma, Blue irides, Partial albinism, White eyebrow, White eyelashes, Heterochr... OMIM:193500
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Acrofrontofacionasal Dysostosis
Hypopigmented skin patches, Brushfield spots ORPHA:1784
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:411511
Wyburn-Mason Syndrome
Iris hypopigmentation ORPHA:53719
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Proteus-Like Syndrome
Irregular hyperpigmentation, Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia i... ORPHA:2969
Peroxisome Biogenesis Disorder 5A (Zellweger)
Pigmentary retinopathy, Opacification of the corneal stroma, Cataract, Brushfield spots OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Pigmentary retinopathy, Opacification of the corneal stroma, Cataract, Brushfield spots OMIM:214110
Zellweger Syndrome
Corneal opacity, Posterior embryotoxon, Abnormal chorioretinal morphology, Cataract, Brushfield s... ORPHA:912
Oculocerebral Hypopigmentation Syndrome, Cross Type
Corneal opacity, Choroideremia, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation,... ORPHA:2719
Hermansky-Pudlak Syndrome 4
Albinism, Ocular albinism OMIM:614073
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Uveitis, Cata... OMIM:221900
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia ORPHA:848
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Anisocoria, Cataract OMIM:619649
Angelman Syndrome
Hypopigmentation of the skin, Fair hair, Blue irides OMIM:105830
Noonan Syndrome 13
Cafe-au-lait spot, Blue irides, Multiple lentigines OMIM:619087
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Corneal opacity, Cataract, Sclerocornea ORPHA:284160
Waardenburg Syndrome
Hypopigmentation of hair, Abnormality of skin pigmentation, Heterochromia iridis, White forelock,... ORPHA:3440
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:98794
Hermansky-Pudlak Syndrome
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Astigmatism, Iris hypopi... ORPHA:79430
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal pupil morphology, Ectopia pupillae, Axenfeld anomaly, Microcornea, Astigmatism, Iris col... ORPHA:261552
Chediak-Higashi Syndrome
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Silver-gray hair, Iris h... OMIM:214500
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Sturge-Weber Syndrome
Conjunctival telangiectasia, Abnormal choroid morphology, Iris coloboma, Corneal dystrophy, Heter... ORPHA:3205
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Noonan Syndrome 4
Blue irides OMIM:610733
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Heterochromia iridis ORPHA:1764
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Posterior ... OMIM:602482
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Astigmatism, Iris hypopigmentation, Keratoconus ORPHA:72
Triopia
Iris coloboma, Abnormal pupil morphology, Microcornea ORPHA:3374
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia OMIM:618857
Duane Retraction Syndrome
Hypoplastic iris stroma, Abnormal pupil morphology, Irregular hyperpigmentation, Microcornea, Iri... ORPHA:233
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Chorioretinal ... OMIM:106210
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Hypopyon, Panuveitis, Abnormal pupil morphology, Corneal stromal edema, ... ORPHA:209959
Juvenile Glaucoma
Abnormal anterior chamber morphology, Abnormality iris morphology ORPHA:98977
Hermansky-Pudlak Syndrome 1
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... OMIM:203300
Nail-Patella Syndrome
Primary congenital glaucoma, Abnormal iris pigmentation, Lester's sign, Antecubital pterygium ORPHA:2614
Hermansky-Pudlak Syndrome 8
Albinism, Ocular albinism, Astigmatism OMIM:614077
Oculoauricular Syndrome
Microphakia, Chorioretinal atrophy, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, ... OMIM:612109
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Albinism, Ocular albinism OMIM:614075
Peroxisome Biogenesis Disorder 1A (Zellweger)
Pigmentary retinopathy, Opacification of the corneal stroma, Cataract, Brushfield spots OMIM:214100
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... ORPHA:3163
Acrodysostosis 1 With Or Without Hormone Resistance
Melanocytic nevus, Blue irides OMIM:101800
Nail-Patella Syndrome
Microphakia, Microcornea, Keratoconus, Cataract, Lester's sign, Antecubital pterygium OMIM:161200
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Posterior embry... OMIM:180500
Koolen-De Vries Syndrome
Iris hypopigmentation, Cataract, Fair hair OMIM:610443
Knobloch Syndrome 1
Lens subluxation, Band keratopathy, Chorioretinal atrophy, Iris transillumination defect, Develop... OMIM:267750
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Maternal diabetes, Insulin-resistant diabetes mellit... OMIM:604367
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:98754
Retinoblastoma
Hypopyon, Abnormality of retinal pigmentation, Uveitis, Heterochromia iridis, Leukocoria ORPHA:790
Prader-Willi Syndrome
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopi... OMIM:176270
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:98793
Prader-Willi Syndrome Due To Translocation
Stellate iris, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Hyp... ORPHA:177907
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:177904
Baraitser-Winter Cerebrofrontofacial Syndrome
Iris coloboma, Microcornea, Heterochromia iridis ORPHA:2995
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:177901
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology ORPHA:250999
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonatal hypogly... ORPHA:552
Congenital Muscular Dystrophy With Cerebellar Involvement
Megalocornea, Cataract, Abnormality iris morphology ORPHA:370959
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Phace Syndrome
Sclerocornea, Iris coloboma, Cataract, Heterochromia iridis, Lens coloboma ORPHA:42775
Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:398073
Chédiak-Higashi Syndrome
Spotty hyperpigmentation, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypo... ORPHA:167
Megalocornea-Intellectual Disability Syndrome
Abnormal anterior chamber morphology, Megalocornea, Astigmatism, Iridodonesis, Hypoplasia of the ... ORPHA:2479
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmentation of hair, Hypopigmented skin patches, Heterochromia ir... ORPHA:163746
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism ORPHA:1352
Hermansky-Pudlak Syndrome 10
Albinism, Ocular albinism OMIM:617050
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Hypopigmented skin patches OMIM:609136
Neurofibromatosis Type 1
Corneal opacity, Abnormality of retinal pigmentation, Lisch nodules, Generalized hyperpigmentatio... ORPHA:636
Neuroocular Syndrome
Blue irides, Stellate iris, Microcornea, Peters anomaly, Iris coloboma, Cataract, Brushfield spot... OMIM:619539
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Megalocornea-Mental Retardation Syndrome
Iridodonesis, Megalocornea, Hypoplasia of the iris OMIM:249310
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Vici Syndrome
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Albinism, Developmental ... OMIM:242840
Acrodysostosis With Multiple Hormone Resistance
Red hair, Fair hair, Blue irides ORPHA:280651
Distal Monosomy 6P
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... ORPHA:96125
Pierson Syndrome
Uveal ectropion, Posterior lenticonus, Rieger anomaly, Cataract, Hypoplasia of the iris, Hypoplas... OMIM:609049
Hermansky-Pudlak Syndrome 2
Ocular albinism, Fair hair, Generalized hypopigmentation, Albinism, Aberrant melanosome maturation OMIM:608233
Trisomy 8P
Heterochromia iridis, Astigmatism ORPHA:264450
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Down Syndrome
Brushfield spots OMIM:190685
Nephronophthisis 11
Anisocoria OMIM:613550
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Type II diabetes mellitus, Hyperinsulinemia, Hyp... ORPHA:2298
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Fair hair, Blue irides, Generalized hypopigmentation OMIM:604292
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:141750
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Fair hair, Blue irides, Generalized hypopigmentation OMIM:129900
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... OMIM:260400
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria, Hyperpigmentation of the skin OMIM:231550
Revesz Syndrome
Fine, reticulate skin pigmentation, Megalocornea, Leukocoria OMIM:268130
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... ORPHA:124
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Williams Syndrome
Flat cornea, Corneal opacity, Blue irides, Megalocornea, Posterior embryotoxon, Cataract, Aplasia... ORPHA:904
Weill-Marchesani Syndrome 2
Microspherophakia, Shallow anterior chamber, Lens luxation, Astigmatism, Iridodonesis, Cataract, ... OMIM:608328
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Oculodentodigital Dysplasia
Cataract, Microcornea, Abnormality iris morphology ORPHA:2710
Lead Poisoning
Anemia, Abnormal T cell morphology, Imbalanced hemoglobin synthesis ORPHA:330015
Proteus Syndrome
Abnormality of retinal pigmentation, Irregular hyperpigmentation, Buphthalmos, Generalized hyperp... ORPHA:744
Charcot-Marie-Tooth Disease Type 1E
Anisocoria, Abnormal pupil morphology ORPHA:90658
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Tubulointerstitial Nephritis And Uveitis Syndrome
Panuveitis, Abnormality of retinal pigmentation, Iris nevus, Anterior chamber flare, Anterior uve... ORPHA:91500
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:301040
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology ORPHA:91387
Retinoblastoma
Leukocoria OMIM:180200
Neonatal Marfan Syndrome
Iridodonesis, Megalocornea, Ectopia lentis ORPHA:284979
Williams-Beuren Syndrome
Premature graying of hair, Blue irides OMIM:194050
Norrie Disease
Corneal opacity, Abnormal pupil morphology, Anterior chamber synechiae, Aplasia/Hypoplasia of the... ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Corneal neovascularization, Ectopia pupillae, Microcornea, Astigmatis... OMIM:175780
1P36 Deletion Syndrome
Cataract, Ocular albinism ORPHA:1606
Oculocerebrorenal Syndrome Of Lowe
Corneal opacity, Abnormal pupil morphology, Generalized hypopigmentation, Buphthalmos, Cataract, ... ORPHA:534
Vascular Ehlers-Danlos Syndrome
Melanocytic nevus, Keratoconus, Abnormal pupil morphology, Abnormality of skin pigmentation ORPHA:286
Amyloidosis, Primary Localized Cutaneous, 3
Hypermelanotic macule OMIM:617920

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 Gpnmb

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 Gpnmb.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
GPNMB plays a protective role against obesity-related metabolic disorders by reducing macrophage inflammatory capacity. The Journal of biological chemistry (September 2021) Gpnmbtm1(KOMP)Vlcg PMC8524194
Genetic ablation of Gpnmb does not alter synuclein-related pathology. Neurobiology of disease (August 2021) Gpnmbtm1.1(KOMP)Vlcg 34464706

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MGI Allele Allele Type Produced
Gpnmbtm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gpnmbtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Gpnmbtm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Gpnmbtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gpnmbtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Gpnmbtm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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