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
increased thigmotaxis 4932438A13Riktm1b(EUCOMM)Hmgu HET Early adult 4.69×10-05
abnormal lens morphology 4932438A13Riktm1b(EUCOMM)Hmgu HET Early adult 2.53×10-07
preweaning lethality, complete penetrance 4932438A13Riktm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased circulating glucose level 4932438A13Riktm1b(EUCOMM)Hmgu HET Early adult 1.13×10-05
impaired glucose tolerance 4932438A13Riktm1b(EUCOMM)Hmgu HET Early adult 8.73×10-05
abnormal behavior 4932438A13Riktm1b(EUCOMM)Hmgu HET Early adult 6.12×10-05
increased heart weight 4932438A13Riktm1b(EUCOMM)Hmgu HET   Early adult 2.54×10-05
abnormal retina vasculature morphology 4932438A13Riktm1b(EUCOMM)Hmgu HET   Early adult 4.74×10-05
abnormal retina morphology 4932438A13Riktm1b(EUCOMM)Hmgu HET Early adult 4.90×10-05
pallor 4932438A13Riktm1b(EUCOMM)Hmgu HOM E12.5 0.00
embryonic growth retardation 4932438A13Riktm1b(EUCOMM)Hmgu HOM E12.5 0.00
abnormal embryo size 4932438A13Riktm1b(EUCOMM)Hmgu HOM E12.5 0.00
cataract 4932438A13Riktm1b(EUCOMM)Hmgu HET Early adult 9.00×10-05
hemorrhage 4932438A13Riktm1b(EUCOMM)Hmgu HOM E15.5 0.00
increased startle reflex 4932438A13Riktm1b(EUCOMM)Hmgu HET   Early adult 5.81×10-06
abnormal vitreous body morphology 4932438A13Riktm1b(EUCOMM)Hmgu HET   Early adult 5.73×10-05
persistence of hyaloid vascular system 4932438A13Riktm1b(EUCOMM)Hmgu HET Early adult 4.47×10-07
decreased locomotor activity 4932438A13Riktm1b(EUCOMM)Hmgu HET Early adult 3.02×10-05

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
Adrenal gland  Section images heterozygote 50% (1 of 2)
Aorta  Section images heterozygote 50% (1 of 2)
Bone marrow  Section images heterozygote Ambiguous
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brown adipose tissue 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)
Peyer's patch 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)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 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
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 0.74% (4 of 537)
aorta 0.19% (1 of 528)
bone marrow 0.0%
brain 0.91% (5 of 547)
brainstem 0.37% (2 of 539)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 529)
cerebellum 0.37% (2 of 542)
cerebral cortex 0.37% (2 of 535)
epididymis 13.64% (18 of 132)
esophagus 1.63% (6 of 367)
eye 0.0%
heart 0.37% (2 of 546)
hippocampus 0.56% (3 of 532)
hypothalamus 0.37% (2 of 535)
kidney 4.3% (23 of 535)
large intestine 5.08% (27 of 532)
liver 0.0%
lower urinary tract 0.19% (1 of 532)
lung 0.37% (2 of 547)
lymph node 0.18% (1 of 544)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.37% (2 of 537)
ovary 0.19% (1 of 539)
oviduct 0.0%
pancreas 0.96% (5 of 522)
peripheral nervous system 0.19% (1 of 520)
peyers patch 0.0%
pituitary gland 0.19% (1 of 529)
prostate gland 2.23% (12 of 539)
skeletal muscle 0.0%
skin 0.18% (1 of 544)
small intestine 5.69% (31 of 545)
spinal cord 0.56% (3 of 534)
spleen 0.56% (3 of 531)
stomach 3.72% (20 of 537)
striatum 0.37% (2 of 535)
submandibular gland 1.54% (2 of 130)
testis 0.95% (5 of 524)
thalamus 0.0%
thymus 0.19% (1 of 535)
thyroid gland 3.22% (17 of 528)
trachea 0.55% (3 of 544)
urinary bladder 0.0%
uterus 0.38% (2 of 527)
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 1.26% (6 of 477)
dorsal root ganglion 1.72% (1 of 58)
ear 0.21% (1 of 480)
embryo 0.42% (2 of 479)
eye 0.21% (1 of 480)
footplate 0.21% (1 of 480)
forebrain 0.21% (1 of 468)
forelimb 0.21% (1 of 468)
fronto-nasal process 1.75% (1 of 57)
handplate 0.21% (1 of 475)
head 1.04% (5 of 479)
heart 0.21% (1 of 471)
hindbrain 1.27% (6 of 471)
hindlimb 0.21% (1 of 479)
liver 0.21% (1 of 474)
lung 0.22% (1 of 462)
mandibular process 0.21% (1 of 479)
maxillary process 0.21% (1 of 470)
midbrain 0.21% (1 of 471)
nose 1.39% (1 of 72)
oral cavity 0.21% (1 of 470)
skin 0.0%
spinal cord 1.47% (1 of 68)
tail 0.21% (1 of 470)
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

19 Images

Adult LacZ

LacZ Images Section

40 Images

X-ray

XRay Images Whole Body Lateral Orientation

17 Images

Immunophenotyping

Panel B FCS file(s)

5 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

36 Images

X-ray

XRay Images Forepaw

10 Images

Embryo LacZ

LacZ images wholemount

12 Images

Gross Morphology Embryo E14.5-E15.5

Images

3 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Eye Morphology

Images Slit Lamp

1 Images

Gross Morphology Embryo E12.5

Images

4 Images

MicroCT E14.5-E15.5

Embryo reconstruction

1 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
Cataract, Pericardial effusion OMIM:617822

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinitis Pigmentosa 42
Pallor OMIM:612943
Retinitis Pigmentosa 81
Pallor OMIM:617871
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Ataxia, Anxiety, Retinal thinning, Optic disc pallor, Hyperglycemia OMIM:618970
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract, Tremor OMIM:165300
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Absent ankle pulse, Pallor, Myocardial infarction, Abnormality of v... ORPHA:90064
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
Retinitis Pigmentosa 60
Pallor OMIM:613983
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cataract ORPHA:1397
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Retinal degeneration, Pigmentary retinopathy, Unsteady gait, Cardiomyo... OMIM:520000
Morm Syndrome
Aggressive behavior, Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Optic Atrophy 9
Pallor OMIM:616289
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Ceroid Lipofuscinosis, Neuronal, 3
Loss of ambulation, Retinal degeneration, Macular degeneration, Concentric hypertrophic cardiomyo... OMIM:204200
Coats Disease
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... ORPHA:190
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy OMIM:618220
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Shallow anterior chamber, Peripheral retinal avascularization, Falci... OMIM:305390
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:133780
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blood vessels, Rod-cone... OMIM:613801
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Cataract, Limb ataxia OMIM:617133
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... OMIM:212550
Stickler Syndrome Type 2
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90654
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Peripheral Cone Dystrophy
Pallor OMIM:609021
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Retinal dystrophy, Ir... ORPHA:231736
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... OMIM:309300
Retinitis Pigmentosa 70
Pallor OMIM:615922
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Rod-cone dystrophy, Depression, Intention tremor, Pigmentary retinopathy, Tremor, Cataract OMIM:614307
Breath-Holding Spells
Pallor OMIM:607578
Retinitis Pigmentosa 37
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Cataract 21, Multiple Types
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma,... OMIM:610202
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy OMIM:616171
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Cataract, Peripheral vitreoretinal degeneration OMIM:614292
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Cataract, Macular degeneration OMIM:618195
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Astigmatism, Cata... OMIM:615986
Maternally-Inherited Diabetes And Deafness
Ataxia, Type II diabetes mellitus, Retinopathy, Abnormal chorioretinal morphology, Cataract, Macu... ORPHA:225
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Optically empty vitreous, Cataract, Snowflake vitreoretinal degeneration, Cor... OMIM:193230
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ca... OMIM:251270
Retinitis Pigmentosa 73
Pallor OMIM:616544
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Pallor, Paroxysmal atrial tachycardia, Cardiac arrest, Congestive heart failure ORPHA:49827
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Depression, Cataract, Ataxia ORPHA:329314
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... ORPHA:1473
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Leber Congenital Amaurosis 1
Hepatomegaly, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy, Optic... OMIM:204000
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Retinitis Pigmentosa 27
Pallor OMIM:613750
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Optic Atrophy 1
Pallor OMIM:165500
Evans Syndrome
Pallor, Petechiae, Epistaxis, Syncope ORPHA:1959
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Growth delay OMIM:615234
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Cataract, Retinal dysplasia OMIM:613154
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hyperinsulinemia, Abnormal retinal vascular morphology, Type... ORPHA:791
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Tortuosity of conjunctival vessels, Progressive cerebellar ataxia, Macular degeneration, Limb ata... ORPHA:284289
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276556
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Senior-Loken Syndrome
Ataxia, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy ORPHA:3156
Cyclic Vomiting Syndrome
Pallor, Growth delay, Cardiomyopathy OMIM:500007
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Anxiety, Falls, Difficulty walking, Emotional lability... ORPHA:3198
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:601813
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Tachycardia, Congestive heart failure ORPHA:90037
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276575
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc colob... OMIM:120200
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Peroxisome Biogenesis Disorder 8B
Ataxia, Dysmetria, Retinal dystrophy, Optic atrophy, Cataract OMIM:614877
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276580
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Subcapsular cataract, Ataxia, Rod-cone dystrophy, Dysmetria, Intention tremor, Optic atrophy, Cat... OMIM:612674
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Cataract, Chorioretinal degeneration,... OMIM:312600
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Broad-based gait, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, Gait ataxia, C... OMIM:224050
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Tachycardia ORPHA:276608
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Retinal Venous Beading
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Retinal infar... OMIM:180080
Usher Syndrome Type 3
Ataxia, Depression, Anxiety, Astigmatism, Iris hypopigmentation, Cataract ORPHA:231183
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Congenital Rubella Syndrome
Corneal opacity, Abnormality of retinal pigmentation, Atrial septal defect, Hepatomegaly, Splenom... ORPHA:290
Peroxisome Biogenesis Disorder 9B
Ataxia, Cataract, Cardiomyopathy, Rod-cone dystrophy OMIM:614879
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Hb Bart'S Hydrops Fetalis
Pallor, Pericarditis, Congestive heart failure ORPHA:163596
Aniridia 1
Glucose intolerance, Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacif... OMIM:106210
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Growth delay, Short stature OMIM:615631
Spastic Paraplegia 26, Autosomal Recessive
Ataxia, Dysmetria, Tip-toe gait, Difficulty walking, Cataract, Emotional lability, Spastic gait, ... OMIM:609195
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment, Cataract OMIM:127200
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Congenital Bile Acid Synthesis Defect Type 4
Ataxia, Type II diabetes mellitus, Depression, Pigmentary retinopathy, Tremor, Cataract ORPHA:79095
Refsum Disease, Classic
Ataxia, Retinal degeneration, Rod-cone dystrophy, Cataract, Cardiomyopathy, Cardiomegaly OMIM:266500
Hemoglobin D Disease
Pallor ORPHA:90039
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract ORPHA:171844
Hemochromatosis, Type 4
Glucose intolerance, Hepatomegaly, Impaired glucose tolerance, Cataract, Diabetes mellitus, Cardi... OMIM:606069
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Palpitations, Tachycardia, Syncope ORPHA:324575
Leber Congenital Amaurosis
Keratoconus, Cataract, Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Autoimmune Hemolytic Anemia
Pallor, Arrhythmia, Congestive heart failure ORPHA:98375
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Retinal detachment, Microcornea, Astigmatism, Optic atrophy,... OMIM:152950
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Iris hypopigmentation, Cataract, Cardiomyopathy ORPHA:67048
Retinitis Pigmentosa 86
Cystoid macular edema, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618613
4H Leukodystrophy
Ataxia, Dysmetria, Dysdiadochokinesis, Optic atrophy, Tremor, Cataract, Progressive gait ataxia, ... ORPHA:289494
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Gait disturbance, Dilated cardiomyopathy, Cataract, Retinal dysplasia ORPHA:272
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract OMIM:183800
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Classic Galactosemia
Gait imbalance, Ataxia, Action tremor, Hepatomegaly, Depression, Anxiety, Hypoglycemia, Gait dist... ORPHA:79239
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy ORPHA:363741
Autosomal Recessive Stickler Syndrome
Retinal detachment, Cataract, Vitreoretinopathy, Astigmatism ORPHA:250984
Wolfram Syndrome 1
Ataxia, Pigmentary retinopathy, Optic atrophy, Tremor, Cataract, Diabetes mellitus, Cardiomyopathy OMIM:222300
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Pigmentary retinopathy OMIM:268050
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Congenital Primary Aphakia
Congenital aphakia, Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Cataract 47
Glycosuria, Cataract, Microcornea OMIM:612018
Hsd10 Disease, Infantile Type
Loss of ambulation, Retinal degeneration, Rod-cone dystrophy, Optic atrophy, Hypoglycemia, Choreo... ORPHA:391428
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Stickler Syndrome Type 1
Mitral valve prolapse, Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90653
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Abnormality of retinal pigmentation, Cataract, Type II diabetes mellitus ORPHA:3085
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Myelofibrosis
Pallor, Purpura OMIM:254450
Isolated Aniridia
Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
Beta-Thalassemia
Skin ulcer, Hypertrophic cardiomyopathy, Pallor ORPHA:848
Combined Oxidative Phosphorylation Deficiency 54
Tremor, Optic disc pallor, Retrobulbar optic neuritis, Hyperglycemia OMIM:619737
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Abnorma... ORPHA:1067
American Trypanosomiasis
Pallor, Arrhythmia, Myocarditis, Cardiomyopathy, Congestive heart failure ORPHA:3386
Posterior Column Ataxia With Retinitis Pigmentosa
Broad-based gait, Ataxia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary re... OMIM:609033
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Oculoauricular Syndrome
Microphakia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Macular hypoplasia, Ret... OMIM:612109
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Retinitis Pigmentosa 51
Pallor OMIM:613464
Srd5A3-Cdg
Ataxia, Rod-cone dystrophy, Coloboma, Optic atrophy, Cataract, Optic disc hypoplasia ORPHA:324737
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor, Delayed puberty OMIM:600462
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Athetosis OMIM:618857
Rheumatic Fever
Pallor, Arrhythmia, Erythema, Myocarditis, Pericarditis, Epistaxis ORPHA:3099
Autoimmune Hemolytic Anemia, Warm Type
Pallor, Tachycardia, Congestive heart failure ORPHA:90033
Intermediate Uveitis
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Cataract, Epiretinal memb... ORPHA:279914
Infantile Refsum Disease
Ataxia, Hepatomegaly, Rod-cone dystrophy, Optic atrophy, Cataract, Cardiomyopathy ORPHA:772
Irida Syndrome
Pallor ORPHA:209981
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cherry red spot of the macu... ORPHA:309246
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Bone spic... ORPHA:364055
Alpha-Mannosidosis, Adult Form
Corneal opacity, Ataxia, Depression, Hepatosplenomegaly, Anxiety, Optic disc pallor, Cataract ORPHA:309288
Retinitis Pigmentosa 75
Pallor OMIM:617023
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Tachycardia ORPHA:90036
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Irritability, Ketotic hypoglycemia, Glycosuria, Lethargy ORPHA:2089
Pyruvate Kinase Deficiency Of Red Cells
Pallor, Intrauterine growth retardation OMIM:266200
Juvenile Sialidosis Type 2
Corneal opacity, Ataxia, Hepatomegaly, Loss of ambulation, Cherry red spot of the macula, Dysmetr... ORPHA:93399
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Retinopathy, Glycosuria, Neo... ORPHA:552
Pierson Syndrome
Remnants of the hyaloid vascular system, Uveal ectropion, Retinal detachment, Posterior lenticonu... OMIM:609049
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Hypoglycemia, Impaired gluconeogenesis, Lethargy, Recur... OMIM:212140
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Short stature OMIM:611590
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Melena, Short stature ORPHA:98870
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Chorioretinal hyperpigmentation, Abnormal macular morphology, Chorioretinal... ORPHA:414
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rod-cone dystrophy, Glycosuria, Optic atrophy, Optic disc pallor, Cataract, Bone spicule pigmenta... OMIM:268315
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... OMIM:165550
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Idiopathic Pulmonary Hemosiderosis
Pallor, Diffuse alveolar hemorrhage, Heart murmur ORPHA:99931
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Rod-cone dystrophy, Pigmentary retinopathy, Gait disturbance, Gait at... ORPHA:88628
Enhanced S-Cone Syndrome
Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Cataract, Retinoschisis OMIM:268100
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Dysmetria, Cataract, Macular degeneration OMIM:619780
Nance-Horan Syndrome
Retinal detachment, Cataract, Microcornea ORPHA:627
Primary Myelofibrosis
Petechiae, Pallor, Purpura, Ecchymosis, Portal hypertension ORPHA:824
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Cataract, Retinal dystrophy OMIM:263100
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Congenital Sialidosis Type 2
Corneal opacity, Ataxia, Hepatomegaly, Cherry red spot of the macula, Dysmetria, Hepatosplenomega... ORPHA:93400
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Usher Syndrome
Ataxia, Abnormality of retinal pigmentation, Vestibular areflexia, Depression, Anxiety, Astigmati... ORPHA:886
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Limb ataxia, Depression, Truncal ataxia, Optic atrophy, Gait disturbance, Gait ataxia, Un... OMIM:619259
Norrie Disease
Corneal opacity, Remnants of the hyaloid vascular system, Abnormal pupil morphology, Abnormal ret... ORPHA:649
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Elliptocytosis 1
Pallor OMIM:611804
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Cataract, Leukocoria ORPHA:2714
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Inability to walk, Exaggerated startle response OMIM:609541
Short Syndrome
Glucose intolerance, Megalocornea, Rieger anomaly, Cataract, Insulin-resistant diabetes mellitus,... OMIM:269880
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal posterior eye segme... ORPHA:67043
Fanconi Anemia, Complementation Group I
Pallor, Intrauterine growth retardation, Short stature OMIM:609053
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Tremor, Ataxia, Hyperglycemia OMIM:220111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Peters anoma... OMIM:614643
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Intracranial hemorrhage ORPHA:3226
Stiff-Person Syndrome
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety, Diabetes mellitus OMIM:184850
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Coloboma, Peters anomaly, Cataract, Posterior s... OMIM:610256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Atrial septal defect, Exaggerated startle response, Pulmonic stenosis, Retin... OMIM:253800
Leishmaniasis
Skin ulcer, Pallor ORPHA:507
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Maternal diabetes, Insulin-resistant diabetes mellit... OMIM:604367
Acquired Idiopathic Sideroblastic Anemia
Pallor, Congestive heart failure ORPHA:75564
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Apathy, Abnormal retinal vascular morphology, Depression, Macular edema, Anxiety, Retinal neovasc... ORPHA:247691
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor, Hematochezia ORPHA:329971
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Difficulty walking, Exaggerated startle response ORPHA:320406
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Chromosome Xp11.3 Deletion Syndrome
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Pigment... OMIM:300578
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Lethargy, Cardiomegaly OMIM:600649
Symptomatic Form Of Hemochromatosis Type 1
Apathy, Hepatomegaly, Splenomegaly, Lethargy, Diabetes mellitus, Cardiomegaly, Cardiomyopathy, Hy... ORPHA:465508
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Optic nerve hypoplasia, Hypoglycemia, Diabetes mellitus, Hyperglyc... OMIM:609069
Cold Agglutinin Disease
Pallor ORPHA:56425
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract ORPHA:3437
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Waldenström Macroglobulinemia
Pallor, Retinal hemorrhage, Vasculitis, Purpura, Gastrointestinal hemorrhage, Epistaxis, Congesti... ORPHA:33226
Bardet-Biedl Syndrome 1
Gait imbalance, Ataxia, Retinal degeneration, Rod-cone dystrophy, Insulin resistance, Left ventri... OMIM:209900
Dravet Syndrome
Pallor ORPHA:33069
Transketolase Deficiency
Atrial septal defect, Hepatomegaly, Self-injurious behavior, Ventricular septal defect, Cataract,... ORPHA:488618
Hereditary Spherocytosis
Skin ulcer, Growth delay, Restrictive cardiomyopathy, Pallor ORPHA:822
Dystonia, Juvenile-Onset
Leg dystonia, Loss of ambulation, Oculogyric crisis, Cataract, Generalized dystonia OMIM:607371
Idiopathic Panuveitis
Cystoid macular edema, Cataract, Choroidal neovascularization, Epiretinal membrane, Vitreous floa... ORPHA:280921
Microphthalmia With Brain And Digit Anomalies
Microcornea, Retinal dystrophy, Iris coloboma, Cataract, Sclerocornea, Chorioretinal coloboma ORPHA:139471
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Anisocoria, Cataract, Temporal optic disc pallor OMIM:619649
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Choreoa... ORPHA:2715
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ataxia, Rod-cone dystrophy, Depression, Hypoglycemia, Cataract, Emotional lability, Hypertrophic ... OMIM:124000
Hyperinsulinism Due To Hnf4A Deficiency
Pallor, Tachycardia ORPHA:263455
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Irritability, Exaggerated startle response, Oculogyric crisis, Atheto... OMIM:608643
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Dominant Beta-Thalassemia
High-output congestive heart failure, Pallor, Arrhythmia, Dilated cardiomyopathy, Delayed puberty... ORPHA:231226
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Abnormal heart morphology OMIM:175700
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:29072
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Pallor, Tachycardia, Junctional ect... ORPHA:137675
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyp... ORPHA:2298
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microcornea, Retinal dystrophy, Coloboma, Cataract OMIM:610125
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Ataxia, Resting tremor, Depression, Head tremor, Optic atrophy, Cataract ORPHA:314404
Spondyloocular Syndrome
Mitral valve prolapse, Retinal detachment, Atrial septal defect, Cataract OMIM:605822
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Tay-Sachs Disease
Pallor OMIM:272800
Sepsis In Premature Infants
Petechiae, Pallor, Tachycardia, Hypotension, Purpura, Bradycardia ORPHA:90051
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Posterior subcapsular cataract, Epiretinal membrane, Uns... ORPHA:637
Tay-Sachs Disease
Inability to walk, Laryngeal dystonia, Cherry red spot of the macula, Dysmetria, Depression, Exag... ORPHA:845
Beta-Thalassemia Intermedia
Skin ulcer, Pulmonary arterial hypertension, Pallor, High-output congestive heart failure ORPHA:231222
Autosomal Dominant Optic Atrophy And Cataract
Anterior cortical cataract, Ataxia, Resting tremor, Cerulean cataract, Posterior subcapsular cata... ORPHA:67036
Beta-Thalassemia Major
High-output congestive heart failure, Pallor, Arrhythmia, Dilated cardiomyopathy, Delayed puberty... ORPHA:231214
Refractory Anemia With Excess Blasts
Anemic pallor, Palpitations, Retinal hemorrhage ORPHA:86839
Myopathy, Mitochondrial, And Ataxia
Pallor, Growth delay, Short stature OMIM:617675
Werner Syndrome
Cataract, Retinal degeneration, Diabetes mellitus OMIM:277700
Rare Circulatory System Disease
Pallor, Intermittent claudication ORPHA:98028
Fructose-1,6-Bisphosphatase Deficiency
Pallor, Tachycardia ORPHA:348
Knobloch Syndrome
Macular degeneration, Retinal detachment, Vitreoretinopathy, Dextrocardia, Cataract, Abnormal vit... ORPHA:1571
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor, Growth delay ORPHA:300298
Necrotizing Enterocolitis
Lethargy, Hyperglycemia, Abnormal glucose homeostasis, Abnormal heart morphology ORPHA:391673
Sandhoff Disease
Ataxia, Hepatomegaly, Exaggerated startle response, Cherry red spot of the macula, Hepatosplenome... OMIM:268800
Senior-Loken Syndrome 8
Pallor OMIM:616307
Beta-Ketothiolase Deficiency
Pallor, Hypertension, Hypotension ORPHA:134
Letterer-Siwe Disease
Pallor OMIM:246400
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Imerslund-Gräsbeck Syndrome
Pallor, Tachycardia ORPHA:35858
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor, Tachycardia, Hypotension, Syncope ORPHA:98849
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Acth-Independent Macronodular Adrenal Hyperplasia 2
Depression, Hyperglycemia OMIM:615954
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hyperglycemia OMIM:246200
Childhood Absence Epilepsy
Pallor ORPHA:64280
Sheehan Syndrome
Pallor, Orthostatic hypotension, Palpitations, Dry skin, Bradycardia ORPHA:91355
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Atrial septal defect, Insulin resistance, Diabetic ketoacidosis, Reti... ORPHA:769
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Pituitary Apoplexy
Pallor, Hypertension, Hypotension ORPHA:95613
Von Hippel-Lindau Disease
Abnormal left ventricular function, Pallor, Palpitations, Arrhythmia, Myocarditis, Myocardial inf... ORPHA:892
Hyperekplexia 2
Exaggerated startle response, Astigmatism OMIM:614619
Isolated Permanent Neonatal Diabetes Mellitus
Ataxia, Retinopathy, Glycosuria, Neonatal insulin-dependent diabetes mellitus, Hyperglycemia, Abn... ORPHA:99885
Fumarase Deficiency
Pallor OMIM:606812
3-Hydroxy-3-Methylglutaric Aciduria
Pallor, Dilated cardiomyopathy, Cardiac arrest, Hypotension ORPHA:20
Prolactinoma
Pallor, Hypotension, Delayed puberty ORPHA:2965
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Pallor, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy ORPHA:2131
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Non-Functioning Pituitary Adenoma
Pallor, Hypotension ORPHA:91349
Incontinentia Pigmenti
Pallor, Erythema, Retinal hemorrhage, Short stature OMIM:308300
Adenohypophysitis
Pallor, Orthostatic hypotension ORPHA:95512
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatomegaly, Glycosuria, Impaired glucose tolerance, Diabetes mellit... ORPHA:2088
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Exaggerated startle response, Anxiety, Dystonia ORPHA:438216
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608612
Diamond-Blackfan Anemia 1
Short stature, Pallor, Tricuspid stenosis, Intrauterine growth retardation, Congestive heart failure OMIM:105650
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Vasculitis in the skin, Raynaud phenomenon, Pallor, Intracranial hem... ORPHA:3260
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Pyruvate Carboxylase Deficiency
Apathy, Ataxia, Hepatomegaly, Tip-toe gait, Hypoglycemia, Tremor, Dystonia, Hyperglycemia ORPHA:3008
Panhypophysitis
Pallor, Orthostatic hypotension ORPHA:95513
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Blue irides, Stellate iris, Anxiety, Microcornea, Hypopl... OMIM:619539
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pallor, Palpitations, Ventricular arrhythmia, Hypotension, Delayed p... ORPHA:91347
Aregenerative Anemia
Pallor ORPHA:101096
Microphthalmia, Syndromic 2
Double outlet right ventricle, Remnants of the hyaloid vascular system, Aortic valve stenosis, At... OMIM:300166
Phace Syndrome
Abnormal cardiac septum morphology, Optic nerve hypoplasia, Tetralogy of Fallot, Iris coloboma, C... ORPHA:42775
Atypical Werner Syndrome
Aortic valve calcification, Abnormality of retinal pigmentation, Aortic valve stenosis, Retinal d... ORPHA:79474
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Hyperglycemia ORPHA:90065
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Fanconi Anemia, Complementation Group C
Anemic pallor, Intrauterine growth retardation, Short stature OMIM:227645
Gm2-Gangliosidosis, Ab Variant
Dystonia, Apathy, Exaggerated startle response OMIM:272750
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
Alzahrani-Kuwahara Syndrome
Atrial septal defect, Tip-toe gait, Self-mutilation, Astigmatism, Ventricular septal defect, Opti... OMIM:619268
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Multiple Endocrine Neoplasia Type 2
Pallor, Hypertension associated with pheochromocytoma, Palpitations, Hypertensive crisis ORPHA:653
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, ... OMIM:248370
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... OMIM:600001
Lipodystrophy, Familial Partial, Type 2
Type II diabetes mellitus, Hyperinsulinemia, Hepatomegaly, Insulin-resistant diabetes mellitus, H... OMIM:151660
Fanconi Anemia, Complementation Group E
Anemic pallor, Short stature OMIM:600901
Autosomal Recessive Malignant Osteopetrosis
Pallor, Growth delay, Pulmonary arterial hypertension ORPHA:667
Degcags Syndrome
Pallor, Pulmonic stenosis, Tachycardia, Pulmonary arterial hypertension, Intrauterine growth reta... OMIM:619488
Pearson Marrow-Pancreas Syndrome
Pallor, Erythema OMIM:557000
Infection-Related Hemolytic Uremic Syndrome
Pallor, Hypertension, Myocarditis, Hypertensive crisis ORPHA:544482
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Fanconi Anemia, Complementation Group A
Anemic pallor, Short stature OMIM:227650
Esophageal Atresia
Pallor, Growth delay ORPHA:1199
Scorpion Envenomation
Ataxia, Glycosuria, Myocarditis, Mydriasis, Tremor, Hyperglycemia ORPHA:466677
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Dystonia, Exaggerated startle response ORPHA:521426
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response, Cardiomyopathy, Cherry red spot of the macula ORPHA:79255
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Single ventricle, Iris coloboma, Cyclopia, Chorioretinal... OMIM:157170
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Exaggerated startle response OMIM:617527
Blackfan-Diamond Anemia
Pallor, Growth delay, Short stature ORPHA:124
Dend Syndrome
Hyperglycemia ORPHA:79134
Alkuraya-Kucinskas Syndrome
Cataract, Pericardial effusion OMIM:617822
Fanconi Anemia, Complementation Group D2
Anemic pallor, Short stature OMIM:227646
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Cataract, Patent foramen ovale, Hyperglycemia, Abnormal heart morphology ORPHA:444077
Mitchell-Riley Syndrome
Hyperglycemia OMIM:615710
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia ORPHA:440713
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Bicuspid aortic valve, Inability to walk, Atrial septal defect, Exaggerated sta... ORPHA:438213
Leprechaunism
Postprandial hyperglycemia, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Enlarged kidney, ... ORPHA:508
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Depression, Aggressive behavior, Emotional lability, Hyperglycemia ORPHA:293987
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Congenital Total Pulmonary Venous Return Anomaly
Tricuspid regurgitation, Pallor, Mitral regurgitation, Right ventricular failure, Tachycardia, Lo... ORPHA:99125
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage OMIM:233450
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Tremor ORPHA:79102
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Ventricular septal defect, Atrial septal defect, Exaggerated startle response OMIM:619522

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Bltp1