Gene Summary

Name:
sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1
Synonyms:
4833413O10Rik,  D430029O09Rik,  1110021D17Rik,  Polydom

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 hematocrit Svep1tm1b(EUCOMM)Hmgu HET Early adult 5.07×10-05
abnormal iris transillumination Svep1tm1b(EUCOMM)Hmgu HET Late adult 3.43×10-05
abnormal limb morphology Svep1tm1b(EUCOMM)Hmgu HOM E18.5 0.00
corneal deposits Svep1tm1b(EUCOMM)Hmgu HET Late adult 4.40×10-05
preweaning lethality, complete penetrance Svep1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
impaired pupillary reflex Svep1tm1b(EUCOMM)Hmgu HET Late adult 3.43×10-05
edema Svep1tm1b(EUCOMM)Hmgu HOM E15.5 0.00
edema Svep1tm1b(EUCOMM)Hmgu HOM E18.5 0.00
decreased circulating phosphate level Svep1tm1b(EUCOMM)Hmgu HET Early adult 8.10×10-06
eyelids fail to open Svep1tm1b(EUCOMM)Hmgu HET Late adult 4.40×10-05
exophthalmos Svep1tm1b(EUCOMM)Hmgu HET Late adult 6.83×10-05
abnormal tail morphology Svep1tm1b(EUCOMM)Hmgu HOM E18.5 0.00
narrow eye opening Svep1tm1b(EUCOMM)Hmgu HET Late adult 6.83×10-05
abnormal iris pigmentation Svep1tm1b(EUCOMM)Hmgu HET Late adult 3.43×10-05
increased hemoglobin content Svep1tm1b(EUCOMM)Hmgu HET Early adult 3.05×10-05
increased erythrocyte cell number Svep1tm1b(EUCOMM)Hmgu HET Early adult 3.22×10-05
abnormal skin appearance Svep1tm1b(EUCOMM)Hmgu HOM E18.5 0.00
decreased circulating glucose level Svep1tm1b(EUCOMM)Hmgu HET Early adult 1.80×10-05
abnormal eyelid morphology Svep1tm1b(EUCOMM)Hmgu HET Late adult 4.40×10-05

Download data as:  TSV  XLS

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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
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
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
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote Not available
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)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder 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 50% (1 of 2)
Brain N/A heterozygote 50% (1 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 50% (1 of 2)
Forebrain N/A heterozygote 50% (1 of 2)
Forelimb N/A heterozygote 50% (1 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
Handplate N/A heterozygote 50% (1 of 2)
Head N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hindbrain N/A heterozygote 50% (1 of 2)
Hindlimb N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 50% (1 of 2)
Nose N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 50% (1 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
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 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Gross Morphology Embryo E18.5

Images

4 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Section

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Morphology Embryo E14.5-E15.5

Images

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

1 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Svep1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Svep1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Waardenburg Syndrome, Type 2D
Telecanthus, Heterochromia iridis OMIM:608890
Lymphatic Malformation 9
Tortuous lymphatic vessels, Predominantly lower limb lymphedema OMIM:619319
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Horner Syndrome, Congenital
Deeply set eye, Congenital Horner syndrome, Heterochromia iridis OMIM:143000
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Tietz Albinism-Deafness Syndrome
White eyebrow, Hypopigmentation of the fundus, White eyelashes, Generalized hypopigmentation, Blu... OMIM:103500
Yellow Nail Syndrome
Lymphedema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema OMIM:153300
Progressive Hemifacial Atrophy
Deeply set eye, Ptosis, Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Lymphatic Malformation 2
Lymphedema OMIM:611944
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Lymphatic Malformation 3
Lymphedema OMIM:613480
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Dilution, Pigmentary
Hypopigmentation of the fundus, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation... OMIM:126070
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal ero... OMIM:217800
Lymphatic Malformation 5
Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels, Facial edema OMIM:153200
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Follicular Lymphoma
Lymphedema, Pleural effusion, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus, Blue irides OMIM:606574
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... ORPHA:98960
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Oculocutaneous Albinism Type 6
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Abnormal iris pigmentation... ORPHA:370097
Gjc2-Related Late-Onset Primary Lymphedema
Edema of the dorsum of hands, Pedal edema, Hypoplasia of lymphatic vessels, Abnormal lymphatic ve... ORPHA:568051
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, Abnormal morphology o... ORPHA:352731
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris transillumination defect, Hypoplas... OMIM:619165
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Iris hypopigmentation, Choroideremia, Retinal nonattachment ORPHA:99000
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Cherubism
Macular scar, Lower eyelid retraction, Proptosis, Optic neuropathy, Marcus Gunn pupil OMIM:118400
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
Chromosome 8Q21.11 Deletion Syndrome
Blepharophimosis, Epicanthus, Opacification of the corneal stroma, Short palpebral fissure, Ptosi... OMIM:614230
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, Ptosis, White forelock... ORPHA:895
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, White eyebrow, Premature graying of hair, Synophrys, White eyelas... OMIM:193510
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
German Syndrome
Lymphedema OMIM:231080
Meige Disease
Edema of the dorsum of hands, Lymphedema, Pleural effusion, Peripheral edema, Pedal edema, Lymph ... ORPHA:90186
Alg8-Cdg
Lymphedema ORPHA:79325
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Kaposi Sarcoma, Susceptibility To
Hypermelanotic macule, Edema OMIM:148000
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:277580
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Nonspherocytic hemolytic... ORPHA:3202
Lipedema
Edema OMIM:614103
Congenital Bile Acid Synthesis Defect Type 4
Iris hypopigmentation, Tremor, Epicanthus ORPHA:79095
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Proptosis, Cataract, Microcornea, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Axial Spondylometaphyseal Dysplasia
Hypertelorism, Proptosis, Telecanthus, Downslanted palpebral fissures, Astigmatism, Optic atrophy... ORPHA:168549
Oliver-Mcfarlane Syndrome
Central heterochromia, Pigmentary retinopathy, Long eyelashes, Retinal degeneration, Long eyebrows OMIM:275400
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Chylous Ascites
Lymphedema, Ascites ORPHA:1160
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Urocanase Deficiency
Tremor, Blue irides, Fair hair OMIM:276880
Kleeblattschaedel
Proptosis, Recurrent corneal erosions OMIM:148800
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Epicanthus, Synophrys, Ptosis, Abnorma... ORPHA:1390
Frontofacionasal Dysplasia
Brushfield spots, Hypertelorism, Blepharophimosis, Upper eyelid coloboma, Iris coloboma, Cataract... ORPHA:1791
Ocular Cystinosis
Corneal crystals ORPHA:411641
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... ORPHA:766
Pontocerebellar Hypoplasia Type 10
Highly arched eyebrow, Long eyelashes, Proptosis, Long palpebral fissure, Optic atrophy ORPHA:411493
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Heterochromia iridis, Premature graying of hair ORPHA:66633
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Hydrops Fetalis
Polyhydramnios, Lymphedema, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, As... ORPHA:1041
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Hypoplasia of lymphatic vessels, Nonimmune hydrops fetalis, ... OMIM:153100
Mpi-Cdg
Lymphedema ORPHA:79319
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Corneal ... ORPHA:1067
Lymphatic Malformation 10
Lymphedema OMIM:619369
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Pulmonary edema OMIM:617300
Acute Zonal Occult Outer Retinopathy
Vitritis, Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal pigment epithelial... ORPHA:284454
Limbal Stem Cell Deficiency
Decreased corneal reflex, Blepharospasm, Generalized opacification of the cornea, Opacification o... ORPHA:171673
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Lymphedema, Pericardial lymphangiectasia, Intestinal lymphangiectasia, Pulmonary lymphangiectasia OMIM:616006
Autosomal Dominant Keratitis
Aniridia, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacification of the corneal stro... ORPHA:2334
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal dysplasia, Opacification of t... OMIM:310600
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Polycythemia, Normocytic anemia, Normochromic anemia, Splenomegaly OMIM:222800
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Amoebic Keratitis
Decreased corneal sensation, Abnormal posterior eye segment morphology, Abnormal corneal epitheli... ORPHA:67043
Frias Syndrome
Downslanted palpebral fissures, Ptosis, Hypertelorism, Proptosis OMIM:609640
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Cholestasis-Lymphedema Syndrome
Lymphedema, Splenomegaly OMIM:214900
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Anemia of inadequate production, Sple... OMIM:237800
Waardenburg Syndrome, Type 3
Heterochromia iridis, Blepharophimosis, Premature graying of hair, Synophrys, Hypopigmented skin ... OMIM:148820
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Macular agenesis, Chorioretinal hypopig... OMIM:106210
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Edema, Facial edema OMIM:618154
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Ptosis, ... ORPHA:1473
Lymphedema, Primary, With Myelodysplasia
Lymphedema, Webbed neck OMIM:614038
Secondary Intestinal Lymphangiectasia
Lymphedema, Pleural effusion, Pedal edema, Chylous ascites, Abnormality of the lymphatic system ORPHA:90363
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Juvenile Xanthogranuloma
Iritis, Asymmetry of iris pigmentation, Uveitis, Proptosis, Multiple cafe-au-lait spots, Blepharitis ORPHA:158000
Campomelia, Cumming Type
Lymphedema, Polysplenia OMIM:211890
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Lymphatic Malformation 4
Lymphedema OMIM:615907
Mental Retardation, Buenos Aires Type
Curly eyelashes, Hypertelorism, Long eyelashes, Fair hair, Ptosis, Downslanted palpebral fissures... OMIM:249630
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal macular morphology, Freckling, Giant melanosomes in melanocytes, ... ORPHA:54
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Deafness-Hypogonadism Syndrome
Hypertelorism, Epicanthus, Heterochromia iridis, Congenital stationary night blindness ORPHA:90646
Waardenburg Syndrome, Type 1
Hypertelorism, Heterochromia iridis, Blepharophimosis, White eyebrow, Premature graying of hair, ... OMIM:193500
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Microcephaly 5, Primary, Autosomal Recessive
Highly arched eyebrow, Proptosis OMIM:608716
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Hypopigmentation of ... OMIM:203200
Lissencephaly 2
Lymphedema OMIM:257320
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabetic ketoacidosis... OMIM:618858
Shashi-Pena Syndrome
Highly arched eyebrow, Ptosis, Hypertelorism, Proptosis OMIM:617190
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Splenomegaly, Anemia, Anemia of inade... OMIM:613673
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrops fetalis, Palpebral edema, Pleural effusion, Predominantly lower limb lymphedema, Ascites,... ORPHA:69735
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Lissencephaly 7 With Cerebellar Hypoplasia
Lymphedema, Short neck OMIM:616342
Riboflavin Transporter Deficiency
Iris hypopigmentation, Tremor, Ptosis, Abnormality of macular pigmentation, Optic disc pallor ORPHA:97229
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Iron deficiency anemia, Microcytic anemia, Incre... ORPHA:398063
Lymphatic Malformation 6
Polyhydramnios, Lymphedema, Webbed neck, Pleural effusion, Facial edema, Intestinal lymphangiecta... OMIM:616843
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, W... ORPHA:79435
Acrofrontofacionasal Dysostosis
Eyelid coloboma, Brushfield spots, Hypertelorism, Hypopigmented skin patches, Ptosis, Aplasia/Hyp... ORPHA:1784
Griscelli Syndrome Type 1
Iris hypopigmentation, Premature graying of hair, White hair, Partial albinism, Retinopathy ORPHA:79476
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Iris coloboma, Microcornea, Hyperpigm... ORPHA:3214
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypertelorism, Rieger anomaly, Absent extraocular muscles, Proptosis, Abnormally prominent line o... OMIM:109120
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity, Optic atrophy, Retinal degeneration OMIM:252650
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Megalocornea, Hypertelorism, Epicanthus, Proptosis OMIM:618354
Spondylo-Ocular Syndrome
Iris hypopigmentation, Abnormal eyebrow morphology, Hypertelorism, Cataract, Retinal detachment, ... ORPHA:85194
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Ichthyosis, Congenital, Autosomal Recessive 4B
Ectropion, Proptosis OMIM:242500
Acral Self-Healing Collodion Baby
Edema of the dorsum of hands, Palmoplantar scaling skin, Erythema, Edema of the dorsum of feet, L... ORPHA:281127
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Upslanted palpebral fissure, Proptosis OMIM:618492
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Crouzon Disease
Hypertelorism, Melanocytic nevus, Iris coloboma, Proptosis, Conjunctivitis, Ptosis, Hypopigmented... ORPHA:207
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma, Short palpebral fissure, Blepharophimosis OMIM:113470
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Cinca Syndrome
Lymphedema, Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Hypertelorism, Pigmentary retinopathy, Palpebral edema, Upslanted palpebral fis... OMIM:214110
Donnai-Barrow Syndrome
Hypertelorism, Iris coloboma, Proptosis, Retinal dystrophy, Retinal detachment, Downslanted palpe... ORPHA:2143
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Proptosis ORPHA:2370
2Q24 Microdeletion Syndrome
Downslanted palpebral fissures, Cataract, Hypertelorism, Abnormality iris morphology ORPHA:1617
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Hypermanganesemia, Polycy... OMIM:613280
Chromosome 5P13 Duplication Syndrome
Hypertelorism, Blepharophimosis, Upslanted palpebral fissure, Epicanthus, Proptosis, Short palpeb... OMIM:613174
Frontoocular Syndrome
Blepharophimosis, Upslanted palpebral fissure, Epicanthus, Proptosis, Ptosis, Short palpebral fis... OMIM:605321
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hyperglycemia, Diabet... OMIM:606176
Cornea Plana 2, Autosomal Recessive
Flat cornea, Decreased corneal thickness, Corneal arcus OMIM:217300
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Usher Syndrome Type 3
Iris hypopigmentation, Astigmatism, Cataract ORPHA:231183
Cholestasis-Lymphedema Syndrome
Lymphedema, Abnormality of the lymphatic system, Splenomegaly ORPHA:1414
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Hypertelorism, Pigmentary retinopathy, Palpebral edema, Epicanthus, Cataract, O... OMIM:614866
Kaposi Sarcoma
Lymphedema, Abnormality of the spleen, Generalized lymphadenopathy ORPHA:33276
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Holoprosencephaly 11
Thick eyebrow, Hypotelorism, Synophrys, Proptosis OMIM:614226
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract ORPHA:67048
Al-Gazali-Bakalinova Syndrome
Lymphedema, Short neck OMIM:607131
Cherubism
Optic atrophy, Proptosis ORPHA:184
Tetralogy Of Fallot
Proptosis OMIM:187500
Microphthalmia, Isolated, With Coloboma 9
Hypertelorism, Narrow palpebral fissure, Iris coloboma, Ocular anterior segment dysgenesis, Ptosi... OMIM:615145
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Isolated Brachycephaly
Hypertelorism, Proptosis ORPHA:35099
Microcephaly 3, Primary, Autosomal Recessive
Proptosis OMIM:604804
Waardenburg Syndrome, Type 2E
Heterochromia iridis, White eyebrow, Premature graying of hair, Ocular albinism, Hypoplasia of th... OMIM:611584
Gómez-López-Hernández Syndrome
Hypertelorism, Telecanthus, Corneal opacity ORPHA:1532
Waardenburg Syndrome, Type 4C
Lacrimal gland hypoplasia, Heterochromia iridis, White eyebrow, Premature graying of hair, White ... OMIM:613266
Axenfeld-Rieger Syndrome, Type 2
Hypertelorism, Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea, Tele... OMIM:601499
Developmental And Epileptic Encephalopathy 48
Long eyelashes, Proptosis, Long palpebral fissure, Rod-cone dystrophy, Optic disc pallor OMIM:617276
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Hyperkeratosis, Cafe-au-lait spot, Hypopigmented skin pa... OMIM:145250
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Hypertelorism, Blepharophimosis, Epicanthus, Corneal opacity, Cataract, Pt... ORPHA:284160
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cataract, Proptosis ORPHA:85172
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Premature graying of hair, White h... ORPHA:894
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, White eyelashes, White ... ORPHA:2884
Klippel-Trenaunay-Weber Syndrome
Lymphedema, Lymphangioma OMIM:149000
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Hy... ORPHA:999
Phenylketonuria
Cataract, Generalized hypopigmentation, Blue irides, Fair hair OMIM:261600
Dohle Bodies And Leukemia
Lymphedema OMIM:223350
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Upslanted palpebral fissure, Deeply set eye, Epicanthus, Cafe-au-lait spot, Hand tremor, Blue irides ORPHA:3041
Tangier Disease
Opacification of the corneal stroma, Cicatricial ectropion, Ectropion OMIM:205400
Lymphedema-Hypoparathyroidism Syndrome
Lymphedema, Pulmonary lymphangiectasia OMIM:247410
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Melorheostosis
Lymphedema ORPHA:2485
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Kosaki Overgrowth Syndrome
Downslanted palpebral fissures, Ptosis, Proptosis OMIM:616592
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Keratoconus Posticus Circumscriptus
Central posterior corneal opacity, Keratoconus, Hypertelorism OMIM:244600
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Hypertelorism, Upslanted palpebral fissure, Epicanthus, Proptosis, Short p... ORPHA:352490
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus OMIM:603776
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Cataract, Opacification of the corneal stroma, Distichiasis, Downslanted palpebral fissures, Spar... OMIM:211370
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:612653
Atopic Keratoconjunctivitis
Abnormal eyelid morphology, Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Los... ORPHA:163934
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma, Cherry red spot of the macula OMIM:256540
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Hypercholesterolemia, Familial, 1
Xanthelasma, Corneal arcus OMIM:143890
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Usher Syndrome Type 1
Iris hypopigmentation, Cataract ORPHA:231169
Axenfeld-Rieger Syndrome, Type 3
Hypertelorism, Posterior embryotoxon, Proptosis, Hypoplasia of the iris, Ectopia pupillae OMIM:602482
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus OMIM:144300
Joint Laxity, Short Stature, And Myopia
Chorioretinal coloboma, Iris coloboma, Retinal detachment, Proptosis OMIM:617662
Infantile Nephropathic Cystinosis
Abnormal cornea morphology, Pigmentary retinopathy, Corneal crystals ORPHA:411629
Milroy Disease
Lymphedema, Pedal edema, Predominantly lower limb lymphedema ORPHA:79452
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Deafness-Lymphedema-Leukemia Syndrome
Lymphedema, Lymphadenopathy, Splenomegaly ORPHA:3226
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Hypertelorism, Epicanthus, Proptosis, Thick eyebrow, Optic atrophy OMIM:614800
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Primary Intestinal Lymphangiectasia
Hydrops fetalis, Lymphedema, Pleural effusion, Pericardial effusion, Pedal edema, Chylous ascites... ORPHA:90362
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets, Glycosuria OMIM:618913
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea,... OMIM:610202
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Albinism, Hypopigmentation... ORPHA:79434
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Glycosuria OMIM:613388
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Noonan Syndrome 9
Prominent corneal nerve fibers, Sparse eyebrow, Hypertelorism, Ptosis, Downslanted palpebral fiss... OMIM:616559
Greenberg Dysplasia
Lymphedema ORPHA:1426
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomega... OMIM:109270
Pontocerebellar Hypoplasia, Type 3
Long palpebral fissure, Optic atrophy, Proptosis OMIM:608027
Hypercholesterolemia, Familial, 2
Xanthelasma, Corneal arcus OMIM:144010
Trisomy 12P
Hypertelorism, Aplasia/Hypoplasia of the iris, Epicanthus, Proptosis, Thick eyebrow ORPHA:1699
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Corneal opacity, Cataract, Retinal detachment, Retinopathy ORPHA:90654
Woolly Hair
Hypopigmentation of hair, Abnormal retinal morphology, Cataract, Sparse lateral eyebrow, Abnormal... ORPHA:170
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Abnormalit... ORPHA:79431
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Thin skin, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema OMIM:607823
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Proptosis OMIM:601420
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Palpebral edema, Ectopia lentis, Iris coloboma, Ptosis ORPHA:1259
Chromomycosis
Lymphedema, Lymphangiectasis, Edema, Predominantly lower limb lymphedema ORPHA:182
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Microphthalmia, Isolated 3
Ankyloblepharon, Sclerocornea OMIM:611038
Noonan Syndrome 13
Highly arched eyebrow, Almond-shaped palpebral fissure, Hypertelorism, Epicanthus, Broad eyebrow,... OMIM:619087
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Cataract, Band keratopathy OMIM:604278
Edinburgh Malformation Syndrome
Brushfield spots, Synophrys ORPHA:1895
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Donnai-Barrow Syndrome
Hypertelorism, Iris coloboma, Proptosis, Retinal dystrophy, Hypoplasia of the iris, Cataract, Ret... OMIM:222448
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphedema ORPHA:1116
Intermediate Uveitis
Macular scar, Vitreous haze, Cystoid macular edema, Vitreous snowballs, Epiretinal membrane, Opti... ORPHA:279914
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Cataract, Retinal detachment, Proptosis ORPHA:90653
Superficial Epidermolytic Ichthyosis
Acantholysis, Edema, Palmoplantar keratoderma ORPHA:455
Noonan Syndrome 4
Sparse eyebrow, Hypertelorism, Epicanthus, Ptosis, Downslanted palpebral fissures, Bilateral ptos... OMIM:610733
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Lacrimal duct atresia, Iris coloboma ORPHA:139450
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Lymphedema OMIM:613089
Gomez-Lopez-Hernandez Syndrome
Downslanted palpebral fissures, Opacification of the corneal stroma, Hypertelorism OMIM:601853
Chromosome 6Pter-P24 Deletion Syndrome
Hypertelorism, Pigmentary retinopathy, Posterior embryotoxon, Axenfeld anomaly, Epicanthus, Ocula... OMIM:612582
Chops Syndrome
Hypertelorism, Long eyelashes, Proptosis, Cataract, Thick eyebrow, Optic atrophy OMIM:616368
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Hypertelorism, Ectropion, Corneal opacity, Synophrys, Conjunctivitis, Thick eyebrow, Keratitis, L... OMIM:602562
Griscelli Syndrome
Iris hypopigmentation, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash m... ORPHA:381
Yellow Nail Syndrome
Lymphedema, Hypoplasia of lymphatic vessels ORPHA:662
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Zellweger Syndrome
Abnormal chorioretinal morphology, Brushfield spots, Upslanted palpebral fissure, Posterior embry... ORPHA:912
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Cystinosis, Nephropathic
Hypopigmentation of hair, Pigmentary retinopathy, Retinal pigment epithelial mottling, Corneal cr... OMIM:219800
Muenke Syndrome
Hypopigmentation of hair, Hypertelorism, Proptosis, Ptosis, Hypopigmented skin patches, Hypermela... ORPHA:53271
Spherocytosis, Type 5
Reticulocytosis, Spherocytosis, Hemolytic anemia, Splenomegaly OMIM:612690
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia, Glycosuria OMIM:134600
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Ptosis, Hypertelorism, Optic atrophy, Proptosis ORPHA:93262
Ophthalmoplegia, Familial Static
Ptosis, Anisocoria OMIM:165000
Mucopolysaccharidosis Type 7
Hydrops fetalis, Lymphedema, Ascites, Splenomegaly, Short neck ORPHA:584
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema ORPHA:3137
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Polyhydramnios, Pancreatic lymphangiectasis, Lymphedema, Thyroid lymphangiectasia, Ascites, Pulmo... OMIM:235255
Oculoectodermal Syndrome
Epicanthus, Proptosis, Opacification of the corneal stroma, Microcornea, Hyperpigmentation of the... OMIM:600268
Tetralogy Of Fallot
Proptosis ORPHA:3303
Cronkhite-Canada Syndrome
Lymphedema, Splenomegaly ORPHA:2930
Hermansky-Pudlak Syndrome 11
Albinism, Melanocytic nevus, Ocular albinism, Fair hair, Hypoplasia of the fovea, Iris transillum... OMIM:619172
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Glycosuria OMIM:308990
Developmental And Epileptic Encephalopathy 75
Hypertelorism, Upslanted palpebral fissure, Proptosis, Optic atrophy, Optic disc pallor OMIM:618437
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Lymphedema, Oligohydramnios OMIM:613623
Multiple Synostoses Syndrome 3
Proptosis OMIM:612961
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Lymphedema ORPHA:79279
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalcemia, Anemia, Splenomegaly OMIM:239200
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Postprandial hyperglycemia, Impaired glucose tolerance, G... ORPHA:2088
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnor... ORPHA:848
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Astigm... OMIM:203100
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Downslanted palpebral fissures, Hypertelorism, Iris coloboma OMIM:155145
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:182900
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Retinal fold, Upslanted palpebral fissure, Epican... OMIM:152950
White Sponge Nevus 2
Edema, Hyperparakeratosis OMIM:615785
German Syndrome
Lymphedema, Short neck ORPHA:2077
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Optic atrophy, Proptosis OMIM:617481
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia, Hypoglycemia OMIM:610090
Monosomy 18P
Lymphedema, Webbed neck, Short neck ORPHA:1598
Morquio Syndrome C
Corneal opacity OMIM:252300
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:185000
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Downslanted palpebral fissures, Proptosis ORPHA:157965
Triopia
Abnormal eyebrow morphology, Hypertelorism, Blepharophimosis, Iris coloboma, Microcornea, Abnorma... ORPHA:3374
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, Heteroch... ORPHA:3440
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Hypertelorism, Corneal opacity, Proptosis OMIM:618961
Winchester Syndrome
Corneal opacity OMIM:277950
Wyburn-Mason Syndrome
Retinal vascular malformation, Iris hypopigmentation, Proptosis ORPHA:53719
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Splenomegaly, Anemia of inadequate production OMIM:224100
Pigmented Villonodular Synovitis
Lymphedema, Joint swelling ORPHA:66627
Crouzon Syndrome
Hypertelorism, Proptosis, Conjunctivitis, Keratitis, Shallow orbits, Optic atrophy OMIM:123500
Maternal Uniparental Disomy Of Chromosome X
Short neck, Predominantly lower limb lymphedema ORPHA:261519
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Hypoglycemia OMIM:232700
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Depigmented fundus, Ocular albinism OMIM:300500
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Pontocerebellar Hypoplasia, Type 10
Highly arched eyebrow, Long palpebral fissure, Long eyelashes, Proptosis OMIM:615803
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Corneal opacity, P... ORPHA:137902
Proteus-Like Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Cataract, Retinal detachment, Downslanted palp... ORPHA:2969
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Mastocytosis, Cutaneous
Edema, Erythema OMIM:154800
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Crouzon Syndrome With Acanthosis Nigricans
Melanocytic nevus, Hypertelorism, Proptosis OMIM:612247
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Clapo Syndrome
Lymphedema, Lymphangioma ORPHA:168984
Nasopalpebral Lipoma-Coloboma Syndrome
Lacrimal punctal atresia, Sparse eyebrow, Hypertelorism, Abnormal eyelash morphology, Corneal opa... ORPHA:2399
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Ectropion, Corneal opacity, Ocular albinism, Cat... ORPHA:2719
Jackson-Weiss Syndrome
Ptosis, Hypertelorism, Proptosis ORPHA:1540
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Livedoid Vasculopathy
Leukocytosis, Polycythemia, Abnormal circulating lipid concentration, Pancytopenia, Anemia, Diabe... ORPHA:542643
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Isolated Cloverleaf Skull Syndrome
Proptosis ORPHA:2343
Juvenile Nephropathic Cystinosis
Abnormal cornea morphology, Corneal crystals ORPHA:411634
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the fundus, Ocular albinism, Hypopigmentation of the skin OMIM:614171
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Cantu Syndrome
Lymphedema, Pericardial effusion, Short neck OMIM:239850
Muenke Syndrome
Downslanted palpebral fissures, Ptosis, Hypertelorism, Proptosis OMIM:602849
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Lymphedema, Oligohydramnios, Severe hydrops fetalis OMIM:601927
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Normocytic anemia, Normochr... OMIM:235700
Spinocerebellar Ataxia-Dysmorphism Syndrome
Ptosis, Epicanthus, Optic atrophy, Proptosis ORPHA:1185
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hyp... ORPHA:31824
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Oculocutaneous Albinism Type 5
Abnormal fundus morphology, Hypoplasia of the fovea, Ocular albinism ORPHA:370091
Exfoliation Syndrome
Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseu... OMIM:177650
Filippi Syndrome
Optic atrophy, Proptosis OMIM:272440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Retinal dysplasia, Optic nerve dysplasia, Opacificatio