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 5.57×10-10
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 0.0%
aorta 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

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 Skull Lateral Orientation

18 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

18 Images

Adult LacZ

LacZ Images Section

19 Images

X-ray

XRay Images Forepaw

18 Images

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

X-ray

XRay Images Whole Body Dorso Ventral

18 Images

Sleep Wake

Wake state (bmp file)

24 Images

Embryo LacZ

LacZ images wholemount

12 Images

Eye Morphology

Images Slit Lamp

1 Images

Electroretinography

Rod waveform (pdf format)

9 Images

Auditory Brain Stem Response

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

17 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
Generalized hyperpigmentation, 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
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
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis OMIM:103500
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o... OMIM:619947
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... ORPHA:67043
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypo... OMIM:619165
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Iris hypopigmentation ORPHA:99000
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation ORPHA:370097
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Microphthalmia, Isolated, With Coloboma 7
Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Glaucoma 1, Open Angle, A
Abnormal iris vasculature OMIM:137750
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Late-Onset Retinal Degeneration
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... ORPHA:67042
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p... 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
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... OMIM:601706
Facial Spasm
Anisocoria OMIM:134300
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst OMIM:620086
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosomes in melanocytes, Freckl... ORPHA:54
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Oculocutaneous Albinism Type 1
White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Abnormal morphology o... ORPHA:352731
Griscelli Syndrome Type 1
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation ORPHA:79476
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Woronets Trait
Red blood cell keratocytosis OMIM:194320
3-Methylglutaconic Aciduria Type 4
Cataract, Iris hypopigmentation ORPHA:67048
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Heterochromia iridis, Hypopigmented skin p... ORPHA:2885
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Woolly Hair Nevus
Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p... ORPHA:1067
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... ORPHA:999
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Biemond Syndrome Ii
Iris coloboma OMIM:210350
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
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia OMIM:275400
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Phenylketonuria
Fair hair, Generalized hypopigmentation, Cataract, Blue irides OMIM:261600
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Klippel-Feil Syndrome 3, Autosomal Dominant
Iris coloboma, Chorioretinal coloboma OMIM:613702
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of retinal pigmentation, Whit... ORPHA:79432
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Multiple System Atrophy 1, Susceptibility To
Iris atrophy OMIM:146500
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... ORPHA:3214
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Congenital Microcoria
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... ORPHA:566
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla... OMIM:611584
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Waardenburg Syndrome, Type 3
Partial albinism, Blue irides, Hypopigmented skin patches, Premature graying of hair, White forel... OMIM:148820
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Acrofrontofacionasal Dysostosis 1
Iris atrophy OMIM:201180
Hermansky-Pudlak Syndrome 11
Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair OMIM:619172
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism OMIM:300500
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Coats Disease
Leukocoria OMIM:300216
Oculocutaneous Albinism Type 5
Ocular albinism ORPHA:370091
Juvenile Xanthogranuloma
Multiple cafe-au-lait spots, Iritis, Uveitis, Asymmetry of iris pigmentation ORPHA:158000
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Posterior lenticonus, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Absent anterior chamber of the eye OMIM:259770
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Piebaldism, Hypopigmented skin patches,... ORPHA:2884
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Hermansky-Pudlak Syndrome 5
Iris transillumination defect, Ocular albinism, Albinism OMIM:614074
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microcornea, Iris transillumination defect, Cataract, Generalized hypopigmentation OMIM:617306
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Riboflavin Transporter Deficiency
Iris hypopigmentation ORPHA:97229
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Iris hypopigmentation ORPHA:834
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Iris coloboma ORPHA:1791
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Blue irides OMIM:614613
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Hermansky-Pudlak Syndrome 8
Albinism, Silver-gray hair, Myopic astigmatism, Blue irides, Ocular albinism, Iris transilluminat... OMIM:614077
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Spondylo-Ocular Syndrome
Cataract, Aplasia/Hypoplasia of the lens, Iris hypopigmentation ORPHA:85194
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Edinburgh Malformation Syndrome
Brushfield spots ORPHA:1895
Essential Fructosuria
Hyperglycemia ORPHA:2056
Neurooculorenal Syndrome
Iris atrophy OMIM:620305
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation ORPHA:2720
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Woolly Hair
Abnormal pupil morphology, Cataract, Hypopigmentation of hair ORPHA:170
Usher Syndrome Type 2
Cataract, Iris hypopigmentation ORPHA:231178
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Aortic Aneurysm, Familial Thoracic 4
Abnormal iris pigmentation OMIM:132900
Deafness-Hypogonadism Syndrome
Heterochromia iridis ORPHA:90646
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Tonne-Kalscheuer Syndrome
Blue irides OMIM:300978
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Griscelli Syndrome
Silver-gray hair, White hair, Hypopigmented skin patches, Premature graying of hair, Iris hypopig... ORPHA:381
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Hypopigmented skin patches,... ORPHA:894
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Cafe-au-lait spot, Blue irides ORPHA:3041
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Blue irides, Premature graying of hair, White f... OMIM:193500
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Acrofrontofacionasal Dysostosis
Brushfield spots, Hypopigmented skin patches ORPHA:1784
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Wyburn-Mason Syndrome
Iris hypopigmentation ORPHA:53719
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Proteus-Like Syndrome
Cataract, Abnormal pupil morphology, Limbal dermoid, Irregular hyperpigmentation, Heterochromia i... ORPHA:2969
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Zellweger Syndrome
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Posterior embryot... ORPHA:912
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma OMIM:214110
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract OMIM:619649
Hermansky-Pudlak Syndrome 4
Ocular albinism, Albinism OMIM:614073
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Choroideremia, Iris hypopig... ORPHA:2719
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... OMIM:221900
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Noonan Syndrome 13
Cafe-au-lait spot, Blue irides, Multiple lentigines OMIM:619087
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Angelman Syndrome
Hypopigmentation of the skin, Fair hair, Blue irides OMIM:105830
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Waardenburg Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Abnormality of skin pigmentation, Premature... ORPHA:3440
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Hermansky-Pudlak Syndrome 7
Ocular albinism, Albinism OMIM:614076
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Cataract, Partial albinism, Ocular albinism, Melanocytic nevus, Astigma... ORPHA:79430
Sturge-Weber Syndrome
Conjunctival telangiectasia, Corneal dystrophy, Abnormal choroid morphology, Heterochromia iridis... ORPHA:3205
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... OMIM:214500
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Cataract, Abnormal pupil morphology, Microcornea, Ectopia pupillae, Astigmatism, Ax... ORPHA:261552
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Noonan Syndrome 4
Blue irides OMIM:610733
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity ORPHA:1764
Angelman Syndrome
Keratoconus, Astigmatism, Fair hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:72
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... ORPHA:209959
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Abnormal pupil morphology, Hypopigmented ... ORPHA:233
Nail-Patella Syndrome
Antecubital pterygium, Abnormal iris pigmentation, Primary congenital glaucoma, Lester's sign ORPHA:2614
Juvenile Glaucoma
Abnormal anterior chamber morphology, Abnormality iris morphology ORPHA:98977
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Oculoauricular Syndrome
Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Microcornea, Iris cyst, Po... OMIM:612109
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Albinism OMIM:614075
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma OMIM:214100
Koolen-De Vries Syndrome
Fair hair, Cataract, Iris hypopigmentation OMIM:610443
Nail-Patella Syndrome
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... ORPHA:177907
Knobloch Syndrome 1
Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L... OMIM:267750
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma OMIM:614866
Acrodysostosis 1 With Or Without Hormone Resistance
Blue irides, Melanocytic nevus OMIM:101800
Baraitser-Winter Cerebrofrontofacial Syndrome
Microcornea, Heterochromia iridis, Iris coloboma ORPHA:2995
Prader-Willi Syndrome
Generalized hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopi... OMIM:176270
Congenital Muscular Dystrophy With Cerebellar Involvement
Megalocornea, Cataract, Abnormality iris morphology ORPHA:370959
Retinoblastoma
Abnormality of retinal pigmentation, Leukocoria, Uveitis, Hypopyon, Heterochromia iridis ORPHA:790
Familial Renal Glucosuria
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria ORPHA:69076
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98754
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... ORPHA:552
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98793
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology ORPHA:250999
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177901
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... ORPHA:167
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:163746
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior chamber morpho... ORPHA:2479
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock, Heterochromia iridis OMIM:609136
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism ORPHA:1352
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generalized hyperpigmentation, Hy... ORPHA:636
Hermansky-Pudlak Syndrome 10
Ocular albinism, Albinism OMIM:617050
Neuroocular Syndrome
Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Peters anomaly, Stellate iri... OMIM:619539
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Neuhauser Syndrome
Hypoplasia of the iris, Iridodonesis, Megalocornea OMIM:249310
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... OMIM:609049
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Albinism, Ocular albinism, Generalized hypopigmentation, Fair hair OMIM:608233
Trisomy 8P
Astigmatism, Heterochromia iridis ORPHA:264450
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Down Syndrome
Brushfield spots OMIM:190685
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Generalized hypopigmentation, Fair hair, Blue irides OMIM:604292
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Nephronophthisis 11
Anisocoria OMIM:613550
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Generalized hypopigmentation, Fair hair, Blue irides OMIM:129900
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Vici Syndrome
Hypopigmentation of hair, Cataract, Albinism, Ocular albinism, Developmental cataract, Hypopigmen... OMIM:242840
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria, Hyperpigmentation of the skin OMIM:231550
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Revesz Syndrome
Megalocornea, Fine, reticulate skin pigmentation, Leukocoria OMIM:268130
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Williams Syndrome
Flat cornea, Corneal opacity, Cataract, Blue irides, Aplasia/Hypoplasia of the iris, Megalocornea... ORPHA:904
Oculodentodigital Dysplasia
Microcornea, Cataract, Abnormality iris morphology ORPHA:2710
Weill-Marchesani Syndrome 2
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... OMIM:608328
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Charcot-Marie-Tooth Disease Type 1E
Anisocoria, Abnormal pupil morphology ORPHA:90658
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology ORPHA:330015
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Abnormality o... ORPHA:91500
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Cataract, Generalized hyperpigmentati... ORPHA:744
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology ORPHA:91387
Williams-Beuren Syndrome
Premature graying of hair, Blue irides OMIM:194050
Retinoblastoma
Leukocoria OMIM:180200
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Neonatal Marfan Syndrome
Iridodonesis, Megalocornea, Ectopia lentis ORPHA:284979
Norrie Disease
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... OMIM:175780
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Buphthalmos, Lenti... ORPHA:534
1P36 Deletion Syndrome
Cataract, Ocular albinism ORPHA:1606
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormality of skin pigmentation, Abnormal pupil morphology, Melanocytic nevus ORPHA:286
Amyloidosis, Primary Localized Cutaneous, 3
Generalized hyperpigmentation, 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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
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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