Gene Summary

Name:
bridge-like lipid transfer protein family member 1
Synonyms:
Tweek,  FSA,  4932438A13Rik

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
preweaning lethality, complete penetrance Bltp1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal vitreous body morphology Bltp1tm1b(EUCOMM)Hmgu HET   Early adult 1.08×10-05
abnormal embryo size Bltp1tm1b(EUCOMM)Hmgu HOM E12.5 0.00
hemorrhage Bltp1tm1b(EUCOMM)Hmgu HOM E15.5 0.00
increased startle reflex Bltp1tm1b(EUCOMM)Hmgu HET   Early adult 5.81×10-06
decreased locomotor activity Bltp1tm1b(EUCOMM)Hmgu HET Early adult 2.72×10-05
abnormal retina vasculature morphology Bltp1tm1b(EUCOMM)Hmgu HET   Early adult 1.13×10-05
cataract Bltp1tm1b(EUCOMM)Hmgu HET Early adult 4.94×10-05
persistence of hyaloid vascular system Bltp1tm1b(EUCOMM)Hmgu HET Early adult 1.36×10-07
abnormal lens morphology Bltp1tm1b(EUCOMM)Hmgu HET Early adult 1.05×10-07
abnormal retina morphology Bltp1tm1b(EUCOMM)Hmgu HET Early adult 4.87×10-05
increased heart weight Bltp1tm1b(EUCOMM)Hmgu HET Early adult 6.21×10-05
pallor Bltp1tm1b(EUCOMM)Hmgu HOM E12.5 0.00
abnormal retina blood vessel morphology Bltp1tm1b(EUCOMM)Hmgu HET   Early adult 8.56×10-05
increased circulating glucose level Bltp1tm1b(EUCOMM)Hmgu HET Early adult 1.13×10-05
increased thigmotaxis Bltp1tm1b(EUCOMM)Hmgu HET Early adult 4.97×10-05
impaired glucose tolerance Bltp1tm1b(EUCOMM)Hmgu HET Early adult 8.95×10-05
abnormal behavior Bltp1tm1b(EUCOMM)Hmgu HET Early adult 5.00×10-05
embryonic growth retardation Bltp1tm1b(EUCOMM)Hmgu HOM E12.5 0.00

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
Adrenal gland N/A heterozygote 50% (1 of 2)
Aorta N/A heterozygote 50% (1 of 2)
Bone marrow N/A heterozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 100% (2 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 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
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 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 Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 50% (1 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 50% (1 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote Not available
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 50% (1 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.

Adult LacZ

LacZ Images Section

40 Images

X-ray

XRay Images Whole Body Dorso Ventral

19 Images

Eye Morphology

Images Slit Lamp

1 Images

Electrocardiogram (ECG)

Waveform Image

36 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

17 Images

Embryo LacZ

LacZ images wholemount

12 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Gross Morphology Embryo E14.5-E15.5

Images

3 Images

Gross Morphology Embryo E12.5

Images

4 Images

Sleep Wake

Wake state (bmp file)

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

1 Images

Immunophenotyping

Panel B FCS file(s)

5 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Bltp1 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 Bltp1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Cataract OMIM:617822

The table below shows human diseases predicted to be associated to Bltp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Tremor, Cataract OMIM:165300
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio... ORPHA:90064
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Morm Syndrome
Cataract, Aggressive behavior, Retinal atrophy, Hyperactivity, Retinal dystrophy ORPHA:75858
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V... OMIM:143200
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir... ORPHA:179
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus, Retinal degener... OMIM:520000
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Ataxia, Optic disc pallor, Hyperglycemia, Retinal thinning OMIM:618970
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Bardet-Biedl Syndrome 9
Cataract, Polydipsia, Hyperglycemia, Attenuation of retinal blood vessels, Astigmatism, Retinal d... OMIM:615986
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Leber Congenital Amaurosis 2
Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Eye poking, ... OMIM:204100
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen... OMIM:614292
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... ORPHA:90050
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Cataract, Limb ataxia, Gait ataxia OMIM:617133
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Cataract, Macular degeneration, Concentric hypertrophic cardiomyopathy, Retinal de... OMIM:204200
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Unsteady gait, Cataract OMIM:620312
Peripheral Cone Dystrophy
Pallor OMIM:609021
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Depression, Tremor, Rod-cone dystrophy, Ataxia, Intention tremor OMIM:614307
Breath-Holding Spells
Pallor OMIM:607578
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Eye poking, ... OMIM:204000
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Vitreoretinochoroidopathy
Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Cataract, Depression, Ataxia, Dysphagia ORPHA:329314
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretin... OMIM:251270
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Pallor, Paroxysmal atrial tachycardia, Short stature, Cardiac arrest ORPHA:49827
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... ORPHA:1473
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Stickler Syndrome, Type V
Cataract, Retinal detachment, Vitreoretinopathy OMIM:614284
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Eales Disease
Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularization, Vitritis... ORPHA:40923
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Cataract, Nuclear cataract, Posterior vitreous deta... OMIM:616468
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Evans Syndrome
Epistaxis, Syncope, Pallor, Petechiae ORPHA:1959
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme... ORPHA:91495
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cataract, Microcornea, Retinopathy, Macular atrophy, Optic disc pallor OMIM:616171
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Macular degeneration, Tortuosity of conjunctival vessels, Limb ataxia, Dysmetria, Progr... ORPHA:284289
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal dystrophy, Ataxia ORPHA:3156
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Growth delay, Pallor OMIM:613561
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... OMIM:312600
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Abnormal heart morphology, Hyperglycemia, Transient neonata... ORPHA:99886
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Coloboma, Ocular anterior segment dysgenesis, Developmental cataract ORPHA:324416
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Cyclic Vomiting Syndrome
Pallor, Growth delay, Cardiomyopathy OMIM:500007
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia ORPHA:276556
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Cataract, Dysmetria, Subcapsular cataract, Rod-cone dystrophy, Ataxia, Intention t... OMIM:612674
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Norrie Disease
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Aggressive ... OMIM:310600
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Pallor, Congestive heart failure ORPHA:90037
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Retinal vein occlusion, Phakodo... OMIM:177650
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the... OMIM:120200
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia ORPHA:276575
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Microcornea, Cataract, Myopic astigmatism, Astigmatism, Aggressive behavior, Atten... OMIM:152950
4H Leukodystrophy
Optic atrophy, Cataract, Dysmetria, Tremor, Progressive gait ataxia, Ataxia, Dystonia, Dysphagia,... ORPHA:289494
Optic Atrophy 1
Pallor OMIM:165500
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia ORPHA:276580
Hb Bart'S Hydrops Fetalis
Pallor, Pericarditis, Congestive heart failure ORPHA:163596
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Increased proinsulin:insulin ratio, Ectopia lentis, Ret... OMIM:106210
Aniridia 2
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:94080
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Congenital Rubella Syndrome
Cataract, Type I diabetes mellitus, Splenomegaly, Abnormality of retinal pigmentation, Ventricula... ORPHA:290
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cataract, Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Cerebellar ataxia associate... OMIM:224050
Leber Congenital Amaurosis
Abnormal optic disc morphology, Keratoconus, Abnormality of retinal pigmentation, Cataract ORPHA:65
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Cataract, Tip-toe gait, Gait ataxia, Dysmetria, Loss of ambulation, Limb tremor, A... OMIM:614877
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Pigmentary retinopathy, Depression, Type II diabetes mellitus, Tremor, Ataxia ORPHA:79095
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Cataract, Cardiomyopathy, Tremor, Dysphagia, Ataxia, Diabe... OMIM:222300
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Anemia, Congenital Dyserythropoietic, Type Ib
Short stature, Growth delay, Pallor OMIM:615631
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Hsd10 Disease, Infantile Type
Optic atrophy, Hypoglycemia, Hypertrophic cardiomyopathy, Retinal degeneration, Cardiomegaly, Los... ORPHA:391428
Hemoglobin D Disease
Pallor ORPHA:90039
Refsum Disease, Classic
Cataract, Cardiomyopathy, Retinal degeneration, Cardiomegaly, Rod-cone dystrophy, Ataxia OMIM:266500
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Cataract, Postural tremor, Limb dysmetria, Spastic gait OMIM:270800
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Cataract, Dilated cardiomyopathy, Gait disturbance, Retinal dysplasia ORPHA:272
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Autosomal Recessive Stickler Syndrome
Astigmatism, Cataract, Retinal detachment, Vitreoretinopathy ORPHA:250984
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Retinal detachment, Mitral valve prolapse, Cataract ORPHA:90653
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Macular degeneration, Dysphagia, Dysmetria OMIM:619780
Stiff Person Spectrum Disorder
Falls, Difficulty walking, Emotional lability, Exaggerated startle response, Diabetes mellitus ORPHA:3198
Hemochromatosis, Type 4
Cataract, Cardiomyopathy, Glucose intolerance, Hepatomegaly, Diabetes mellitus, Impaired glucose ... OMIM:606069
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Hyperinsulinemia, Type II diabetes mellitus, Abnormality of retinal pigmentation ORPHA:3085
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Tremor, Irritab... ORPHA:3077
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Depression, Astigmatism, Ataxia ORPHA:231183
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Type 1 Diabetes Mellitus
Hyperglycemia, Polydipsia, Diabetes mellitus, Polyphagia OMIM:222100
Classic Galactosemia
Cataract, Depression, Hypoglycemia, Postural tremor, Gait imbalance, Action tremor, Attention def... ORPHA:79239
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia,... OMIM:620609
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Abnormal fundus morphology, Ciliary body mel... ORPHA:39044
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Juvenile Sialidosis Type 2
Ataxia, Optic atrophy, Cataract, Visceromegaly, Cherry red spot of the macula, Abnormal heart mor... ORPHA:93399
Combined Oxidative Phosphorylation Deficiency 54
Tremor, Optic disc pallor, Retrobulbar optic neuritis, Hyperglycemia OMIM:619737
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Cataract, Broad-based gait, Attenuation of retinal blood v... OMIM:609033
Beta-Thalassemia
Hypertrophic cardiomyopathy, Pallor, Skin ulcer ORPHA:848
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy, Optic disc pallor, Cataract ORPHA:3173
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Pallor, Arrhythmia, Myocarditis ORPHA:3386
Achondrogenesis Type 2
Lens subluxation, Abnormal vitreous humor morphology, Retinal detachment, Cataract ORPHA:93296
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Srd5A3-Cdg
Optic atrophy, Cataract, Optic disc hypoplasia, Coloboma, Rod-cone dystrophy, Ataxia ORPHA:324737
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ... ORPHA:263479
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypoglycemia, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Dys... OMIM:614702
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina... ORPHA:279914
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Retinal pigment epit... ORPHA:364055
Infantile Refsum Disease
Optic atrophy, Cataract, Cardiomyopathy, Rod-cone dystrophy, Ataxia, Hepatomegaly ORPHA:772
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Cataract, Chorioretinal coloboma, Gait disturbance, Optic nerve hypoplasia ORPHA:163937
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Irida Syndrome
Pallor ORPHA:209981
Isolated Atp Synthase Deficiency
Optic atrophy, Cataract, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Lethargy, Rod-cone ... ORPHA:254913
Gyrate Atrophy Of Choroid And Retina
Cataract, Abnormal macular morphology, Chorioretinal atrophy, Subcapsular cataract, Chorioretinal... ORPHA:414
Retinitis Pigmentosa 51
Pallor OMIM:613464
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Cataract, Ventricular septal defect OMIM:613730
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Retinopathy,... ORPHA:552
Autosomal Dominant Optic Atrophy, Classic Form
Optic atrophy, Cataract, Gait disturbance, Ataxia, Dysphagia, Temporal optic disc pallor, Morning... ORPHA:98673
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Gait disturbance, Hand tremor OMIM:604484
Rheumatic Fever
Epistaxis, Erythema, Pallor, Arrhythmia, Myocarditis, Pericarditis ORPHA:3099
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Ataxia, Cataract, Attenuation of retinal blood vessels, Retinal degeneration, Macular atrophy, Ge... OMIM:619260
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis OMIM:268100
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Pallor, Congestive heart failure ORPHA:90033
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Retinal detachment, Optic nerve hypoplasia OMIM:615181
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cherry red spot of the macula, Exaggerate... ORPHA:309246
Leukodystrophy, Hypomyelinating, 13
Ataxia, Optic atrophy, Exaggerated startle response, Irritability OMIM:616881
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent ... ORPHA:1067
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... OMIM:609049
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Pallor, Melena ORPHA:98870
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor OMIM:266200
Idiopathic Pulmonary Hemosiderosis
Heart murmur, Diffuse alveolar hemorrhage, Pallor ORPHA:99931
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Cataract, Glycosuria, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:268315
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Athetosis, Glycosuria OMIM:618857
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor OMIM:611590
Atelis Syndrome 2
Hyperinsulinemia, Dysmetria, Vitreous hemorrhage, Attention deficit hyperactivity disorder, Remna... OMIM:620185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Cataract, Dilated cardiomyopathy, Transposition of the great arteries, Atrial sept... OMIM:253800
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Cataract, Pigmentary retinopathy, Gait ataxia, Gait disturbance, Bone spicule... ORPHA:88628
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Irritability, Lethargy, Ketotic hypoglycemia ORPHA:2089
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior seg... ORPHA:83461
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Primary Myelofibrosis
Portal hypertension, Petechiae, Pallor, Ecchymosis, Purpura ORPHA:824
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Nance-Horan Syndrome
Cataract, Microcornea, Retinal detachment ORPHA:627
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Optic atrophy, Cataract, Cardiomyopathy, Opto-chiasmatic atrophy, Gait ataxia, Loss of ambulation... OMIM:620089
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy, Cardiomyopathy, Ataxia OMIM:614879
Norrie Disease
Self-injurious behavior, Optic atrophy, Cataract, Ectopia lentis, Hypoplasia of the iris, Abnorma... ORPHA:649
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Cataract, Posterior subcapsular cataract, Attenuation of r... OMIM:300578
Congenital Sialidosis Type 2
Ataxia, Optic atrophy, Cataract, Cherry red spot of the macula, Abnormal heart morphology, Hepato... ORPHA:93400
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:276621
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Depression, Cardiomyopathy, Limb ataxia, Gait ataxia, Cardiomegaly, Gait disturban... OMIM:619259
Alpha-Mannosidosis, Adult Form
Ataxia, Cataract, Depression, Hepatosplenomegaly, Corneal opacity, Optic disc pallor ORPHA:309288
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Dystonia-Deafness Syndrome 1
Cataract, Oculogyric crisis, Generalized dystonia, Pseudobulbar paralysis, Leg dystonia, Loss of ... OMIM:607371
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Pallor ORPHA:3226
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy... OMIM:614643
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Myelofibrosis
Purpura, Pallor OMIM:254450
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Acquired Idiopathic Sideroblastic Anemia
Pallor, Congestive heart failure ORPHA:75564
Vogt-Koyanagi-Harada Disease
Cataract, Retinal detachment ORPHA:3437
Transketolase Deficiency
Self-injurious behavior, Cataract, Type I diabetes mellitus, Abnormal heart morphology, Patent fo... ORPHA:488618
Fanconi Anemia, Complementation Group I
Short stature, Intrauterine growth retardation, Pallor OMIM:609053
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Anemic pallor, Growth delay ORPHA:329971
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Pallor, Growth delay OMIM:600462
Retinitis Pigmentosa 75
Pallor OMIM:617023
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Usher Syndrome
Cataract, Depression, Hypertrophic cardiomyopathy, Abnormality of retinal pigmentation, Astigmati... ORPHA:886
Elliptocytosis 1
Pallor OMIM:611804
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Dravet Syndrome
Pallor ORPHA:33069
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616329
Bardet-Biedl Syndrome 1
Insulin resistance, Cataract, Hyperautofluorescent macular lesion, Attenuation of retinal blood v... OMIM:209900
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Cold Agglutinin Disease
Pallor ORPHA:56425
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Waldenström Macroglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Pallor, Retinal hem... ORPHA:33226
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Lethargy, Tong... OMIM:608643
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Cataract, Abnormality of retinal pigmentation, Abnormal retinal vascular morpholog... ORPHA:2715
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Irritability, Exaggerated startle response, Optic nerve hypoplasia OMIM:617864
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Partial atrioventricular canal defect, Irritability, Impulsivity, Le... OMIM:620423
Greig Cephalopolysyndactyly Syndrome
Abnormal heart morphology, Hyperglycemia, Keratoconus, Atrial septal defect OMIM:175700
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Sclerocornea, Iris coloboma, Retinal dystrophy ORPHA:139471
Short Syndrome
Insulin resistance, Cataract, Insulin-resistant diabetes mellitus, Megalocornea, Hyperglycemia, G... OMIM:269880
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Depression, Cardiomyopathy, Irritability, Abnormal retinal vascular morphology, Re... ORPHA:247691
Tay-Sachs Disease
Optic atrophy, Depression, Cherry red spot of the macula, Inability to walk, Laryngeal dystonia, ... ORPHA:845
Hereditary Spherocytosis
Restrictive cardiomyopathy, Growth delay, Skin ulcer, Pallor ORPHA:822
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:29072
Microphthalmia, Syndromic 5
Cataract, Microcornea, Coloboma, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Skin ulcer, Pallor, High-output congestive heart failure, Arrhythmia, Del... ORPHA:231226
Otodental Syndrome
Cataract, Microcornea, Retinal coloboma, Lens coloboma, Iris coloboma ORPHA:2791
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Stiff-Person Syndrome
Opisthotonus, Depression, Diabetes mellitus, Exaggerated startle response OMIM:184850
Amyloidosis, Finnish Type
Cataract, Cardiomyopathy, Optic neuropathy, Cardiac amyloidosis, Lattice corneal dystrophy OMIM:105120
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Werner Syndrome
Cataract, Diabetes mellitus, Retinal degeneration OMIM:277700
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Abnormal optic nerve morphology, Epiretinal membrane, Cortical ca... ORPHA:637
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Hypoglycemia, Difficulty walking, Gait ataxia, Ataxia, Exaggerated startle response OMIM:620451
Tay-Sachs Disease
Pallor OMIM:272800
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Sandhoff Disease
Cherry red spot of the macula, Hepatosplenomegaly, Cardiomegaly, Ataxia, Hepatomegaly, Exaggerate... OMIM:268800
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Beta-Thalassemia Intermedia
Skin ulcer, Pulmonary arterial hypertension, Pallor, High-output congestive heart failure ORPHA:231222
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Tremor, Patent foramen ovale, Atrial septal defect, Exaggerated startle response OMIM:620327
Sepsis In Premature Infants
Hypotension, Pallor, Petechiae, Bradycardia, Tachycardia, Purpura ORPHA:90051
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Short stature, Intrauterine growth retardation, Pallor OMIM:301310
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Optic atrophy, Cataract, Depression, Resting tremor, Head tremor, Ataxia ORPHA:314404
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Anemic pallor, Palpitations ORPHA:86839
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Myopathy, Mitochondrial, And Ataxia
Short stature, Growth delay, Pallor OMIM:617675
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Posterior subcapsular cataract, Cataract, Resting tremor, Cerulean cataract, Anter... ORPHA:67036
Beta-Thalassemia Major
Dilated cardiomyopathy, Skin ulcer, Pallor, High-output congestive heart failure, Arrhythmia, Del... ORPHA:231214
Sympathetic Ophthalmia
Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor... ORPHA:79098
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly, Mitral valve prolapse, Cherry red spot of the m... ORPHA:309155
Knobloch Syndrome
Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Abnormal vitreous humor morpho... ORPHA:1571
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Hyperglycemia, Splenomegaly, Cardiomegaly, Lethargy, Hepatomegaly, Diabetes mellitus ORPHA:465508
Alstrom Syndrome
Pigmentary retinopathy, Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Hyperglycemi... OMIM:203800
Beta-Ketothiolase Deficiency
Hypotension, Hypertension, Pallor ORPHA:134
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... ORPHA:2298
Congenital Tufting Enteropathy
Cataract, Optic disc coloboma, Irritability, Punctate keratitis, Corneal erosion ORPHA:92050
Senior-Loken Syndrome 8
Pallor OMIM:616307
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor ORPHA:300298
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Depression, Exaggerated startle response OMIM:620114
Childhood Absence Epilepsy
Pallor ORPHA:64280
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cataract, Depression, Hypoglycemia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypergly... OMIM:124000
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Polydipsia, Cardiomyopathy, Insulin-resistant dia... ORPHA:769
Imerslund-Gräsbeck Syndrome
Tachycardia, Pallor ORPHA:35858
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Exaggerated startle response, Agitation OMIM:618056
Letterer-Siwe Disease
Pallor OMIM:246400
Xeroderma Pigmentosum, Complementation Group B
Ataxia, Optic atrophy, Pigmentary retinopathy, Cataract OMIM:610651
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Cardiac arrest, Pallor OMIM:246450
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Hypotension, Dilated cardiomyopathy, Pallor ORPHA:20
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Hypotension, Syncope, Pallor ORPHA:98849
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pallor, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest OMIM:277400
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Sheehan Syndrome
Dry skin, Palpitations, Pallor, Orthostatic hypotension, Bradycardia ORPHA:91355
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Dysphagia, Exaggerated startle response OMIM:617301
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Hypoglycemia, Hyperglycemia, Diabetes mellitus, Optic nerve hypopl... OMIM:609069
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Abnormal heart morphology, Hyperglycemi... ORPHA:99885
Von Hippel-Lindau Disease
Cardiomyopathy, Palpitations, Pallor, Arrhythmia, Myocarditis, Abnormal left ventricular function... ORPHA:892
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Pituitary Apoplexy
Hypotension, Hypertension, Pallor ORPHA:95613
Pyruvate Carboxylase Deficiency
Ataxia, Abnormal temper tantrums, Tip-toe gait, Hypoglycemia, Hyperglycemia, Recurrent hand flapp... ORPHA:3008
Adenohypophysitis
Pallor, Orthostatic hypotension ORPHA:95512
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Pallor, Cardiac conduction abnormality, Arrhythmia ORPHA:2131
Necrotizing Enterocolitis
Abnormal heart morphology, Hyperglycemia, Lethargy, Abnormal glucose homeostasis ORPHA:391673
Incontinentia Pigmenti
Retinal hemorrhage, Erythema, Short stature, Pallor OMIM:308300
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Hyperactivity, Exaggerated startle response OMIM:617281
Donohue Syndrome
Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia OMIM:246200
Prolactinoma
Hypotension, Delayed puberty, Pallor ORPHA:2965
Panhypophysitis
Pallor, Orthostatic hypotension ORPHA:95513
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Non-Functioning Pituitary Adenoma
Hypotension, Pallor ORPHA:91349
Spondyloocular Syndrome
Cataract, Posterior subcapsular cataract, Mitral valve prolapse, Retinal detachment, Atrial septa... OMIM:605822
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Depression OMIM:615954
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Transient ischemic attack, ... ORPHA:3260
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Left ventricular hypertrophy, Addictive alcohol use ORPHA:90065
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Schwannomatosis, Vestibular
Cataract, Posterior subcapsular cataract, Epiretinal membrane, Lisch nodules, Juvenile posterior ... OMIM:101000
Aregenerative Anemia
Pallor ORPHA:101096
Neuroocular Syndrome 1
Cataract, Microcornea, Peters anomaly, Patent foramen ovale, Hypoplasia of the fovea, Attention d... OMIM:619539
Microphthalmia, Syndromic 2
Aortic valve stenosis, Microcornea, Mitral valve prolapse, Ventricular septal defect, Double outl... OMIM:300166
Diamond-Blackfan Anemia 1
Congestive heart failure, Intrauterine growth retardation, Pallor, Short stature, Spina bifida oc... OMIM:105650
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Palpitations, Pallor, Delayed puberty, Supraventricular ar... ORPHA:91347
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Fasting hypoglycemia, Hepatomegaly, Diabetes mellitus, Im... ORPHA:2088
Phace Syndrome
Retinal vascular malformation, Cataract, Abnormal heart morphology, Tetralogy of Fallot, Heteroch... ORPHA:42775
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:608612
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Dystonia, Impaired oropharyngeal swallow response, Exaggerated startle response ORPHA:521426
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Pigmentary retinopathy, Peters anomaly, Histiocytoid cardiomyopathy, Ventricular septal... OMIM:309801
Asparagine Synthetase Deficiency
Tremor, Irritability, Exaggerated startle response, Optic nerve hypoplasia OMIM:615574
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Cataract, Type I diabetes mellitus, Pigmentary retinopathy, Glucose intoleran... OMIM:606721
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Fanconi Anemia, Complementation Group C
Short stature, Intrauterine growth retardation, Anemic pallor OMIM:227645
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Glycosuria, Insulin-resistant diabetes mellitu... ORPHA:79474
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Dysphagia, Exaggerated startle response OMIM:617527
Fumarase Deficiency
Pallor OMIM:606812
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Broad-based gait, Exaggerated startle response, Ataxia ORPHA:438216
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Neuroblastoma
Anemic pallor, Hypertension ORPHA:635
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Cherry red spot of the macula ORPHA:79255
Alzahrani-Kuwahara Syndrome
Coronary sinus enlargement, Cataract, Tip-toe gait, Astigmatism, Patent foramen ovale, Ventricula... OMIM:619268
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Cole Disease
Hyperglycemia OMIM:615522
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Palpitations, Pallor, Hypertension associated with pheochromocytoma ORPHA:653
Fanconi Anemia, Complementation Group E
Short stature, Anemic pallor OMIM:600901
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertensive crisis, Hypertension, Pallor ORPHA:544482
Degcags Syndrome
Intrauterine growth retardation, Pallor, Pulmonary arterial hypertension, Tachycardia, Pulmonic s... OMIM:619488
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Self-injurious behavior, Cataract, Abnormal fear-induced behavior, Abnorma... ORPHA:353281
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
Scorpion Envenomation
Mydriasis, Glycosuria, Hyperglycemia, Tremor, Ataxia, Myocarditis, Restlessness ORPHA:466677
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Growth delay, Pallor ORPHA:667
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Hypoplastic tricuspid valve, Glycosuria, Tetralogy of Fallot, H... OMIM:600001
Esophageal Atresia
Growth delay, Pallor ORPHA:1199
Fanconi Anemia, Complementation Group A
Short stature, Anemic pallor OMIM:227650
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus, Coronary artery stenosis OMIM:615812
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Bardet-Biedl Syndrome
Insulin resistance, Cataract, Depression, Cardiomyopathy, Abnormal heart morphology, Impaired fas... ORPHA:110
Lipodystrophy, Familial Partial, Type 2