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Gene: Shmt2 MGI:1277989

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Gene Summary

Name:
serine hydroxymethyltransferase 2 (mitochondrial)
Synonyms:
2700043D08Rik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Shmt2em1(IMPC)Bay HOM   Early adult 0.00
increased cornea thickness Shmt2em1(IMPC)Bay HET   Early adult 5.56×10-05
abnormal embryo size Shmt2em1(IMPC)Bay HOM E12.5 0.00
pallor Shmt2em1(IMPC)Bay HOM E12.5 0.00
abnormal placenta size Shmt2em1(IMPC)Bay HOM E12.5 0.00
abnormal retina blood vessel morphology Shmt2em1(IMPC)Bay HET   Early adult 4.36×10-05
prenatal lethality Shmt2em1(IMPC)Bay HOM   E18.5 0.00
increased spleen weight Shmt2em1(IMPC)Bay HET Early adult 1.76×10-35
abnormal optic disk morphology Shmt2em1(IMPC)Bay HET   Early adult 5.07×10-05
prolonged PR interval Shmt2em1(IMPC)Bay HET Early adult 4.80×10-31

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Viewing: all phenotypes

lacZ Expression

Expression data not available

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 Forepaw

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of right fundus

16 Images

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Eye Morphology

VIP of left fundus

16 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

VIP of left eye

16 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Shmt2 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 Shmt2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Facial diplegia, Hypertrophic cardiomyopathy, Sensory axonal neuropathy, Conjunctival hyperemia OMIM:619121

The table below shows human diseases predicted to be associated to Shmt2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Retinitis Pigmentosa 42
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... OMIM:612943
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ... ORPHA:542306
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... OMIM:309300
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... OMIM:604393
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Intracranial Hypertension, Idiopathic
Papilledema, Hypertension OMIM:243200
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Optic Atrophy 2
Optic atrophy OMIM:311050
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio OMIM:617272
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, A... OMIM:204000
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Ceroid Lipofuscinosis, Neuronal, 9
Vacuolated lymphocytes, Rod-cone dystrophy, Optic atrophy OMIM:609055
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Iris cyst, Optic atrophy OMIM:620086
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Left ventricular hypertrophy, Atrial fibrillation, Prolonged PR interval OMIM:108900
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... OMIM:614500
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Optic atrophy OMIM:618511
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Attrv30M Amyloidosis
Cardiomegaly, Vitreous floaters, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervo... ORPHA:85447
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Retinal vascular tortuosity, Ar... ORPHA:104
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels OMIM:614504
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... OMIM:600059
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Breath-Holding Spells
Pallor OMIM:607578
Usher Syndrome, Type 1M
Drusen, Optic disc pallor, Left ventricular hypertrophy OMIM:618632
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... OMIM:612158
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:614296
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... OMIM:300476
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular ... OMIM:204200
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Peripheral axonal neuropathy, Optic atrophy, Supraventricular arrhythmia ORPHA:320360
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... OMIM:617087
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly, Optic atrophy OMIM:611721
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,... OMIM:310300
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restricti... OMIM:601419
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Optic Atrophy 6
Optic atrophy OMIM:258500
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Third degree atrioventricular block ORPHA:480
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Optic Atrophy 1
Pallor OMIM:165500
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Keratoconus, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy OMIM:616171
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness OMIM:229200
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Neonatal Lupus Erythematosus
Prolonged QT interval, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block... ORPHA:398124
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract ORPHA:35737
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree atrioventricular block, Car... OMIM:115197
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... OMIM:616469
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... OMIM:613810
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Anemia OMIM:615085
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Mucolipidosis Iv
Corneal opacity, Abnormal abdomen morphology, Optic atrophy, Opacification of the corneal stroma,... OMIM:252650
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Optic Atrophy 5
Optic disc pallor, Optic atrophy OMIM:610708
Juvenile Glaucoma
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... ORPHA:98977
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye... OMIM:311070
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Optic disc pallor, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Anem... OMIM:611490
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... OMIM:600132
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... OMIM:181350
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Congenital Myopathy 24
Cardiomyopathy, Facial palsy, First degree atrioventricular block OMIM:617336
Gitelman Syndrome
Neoplasm of the pancreas, Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure... ORPHA:358
Macrophthalmia, Colobomatous, With Microcornea
Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior... OMIM:602499
Brittle Cornea Syndrome
Retinal detachment, Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Pulmonic ... ORPHA:90354
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... ORPHA:137675
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613983
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Fish-Eye Disease
Hepatomegaly, Angina pectoris, Corneal opacity, Splenomegaly, Lymphadenopathy ORPHA:79292
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Abnormal leukocyte morphology, Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Steinert Myotonic Dystrophy
Peripheral axonal neuropathy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systol... ORPHA:273
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Late-Onset Retinal Degeneration
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... ORPHA:67042
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy OMIM:618776
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... ORPHA:98909
Arthrogryposis, Distal, Type 5
Keratoconus, Abnormality of retinal pigmentation, Keratoglobus, Astigmatism, Retinal fold OMIM:108145
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, Cataract, First degree atrioventricular block, Facial dipleg... OMIM:160900
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... ORPHA:263479
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia ORPHA:318
Leber Optic Atrophy
Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy,... OMIM:535000
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal dystrophy, Cardiac arrest, Megaloblastic anemia, Congestive heart failure, Paroxysmal atr... ORPHA:49827
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Optic Atrophy 8
Mitral regurgitation, Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory... OMIM:616648
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor OMIM:613561
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Myelofibrosis
Pallor, Purpura OMIM:254450
Infantile Refsum Disease
Hepatomegaly, Cataract, Facial palsy, Optic atrophy, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy ORPHA:772
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Anemia, Chromosomal breakage induced by c... OMIM:616435
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Prolonged QRS complex, Cardiomegaly, Left axis deviation, Congestive heart failure, ST ... OMIM:261740
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Abnormal optic disc morphology, Decreased corneal thicknes... ORPHA:293967
Danon Disease
Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, V... OMIM:300257
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy ORPHA:98890
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Peripheral axonal neuropathy, Optic atrophy OMIM:620221
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Acitretin/Etretinate Embryopathy
Abnormal retinal morphology, Antecubital pterygium, Hypoplasia of the thymus, Third degree atriov... ORPHA:40366
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Complete Atrioventricular Septal Defect
Hepatomegaly, Abnormal EKG, Left-to-right shunt, Tachycardia, Cardiomegaly, Right ventricular fai... ORPHA:1329
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricu... OMIM:212138
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Irida Syndrome
Pallor ORPHA:209981
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thromboc... OMIM:249270
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Hypertrophic cardiomyopathy, Cataract ORPHA:3173
Wildervanck Syndrome
Lens subluxation, Pseudopapilledema, Facial palsy ORPHA:3456
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Cln3 Disease
Cataract, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Pigmentary retinopathy, ... ORPHA:228346
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Cardiomyopathy, Neutropenia, Pancreatitis, Thr... ORPHA:79312
Retinitis Pigmentosa 51
Pallor OMIM:613464
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:401777
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hepatomegaly, Abnormal EKG, Cataract, Corneal opacity, Optic atrophy, He... ORPHA:93400
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Riboflavin Transporter Deficiency
Optic disc pallor, Iris hypopigmentation, Facial palsy, Hypertension, Abnormality of macular pigm... ORPHA:97229
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy OMIM:615434
Hyperoxaluria, Primary, Type I
Choroidal neovascularization, Optic neuropathy, Retinal crystals, Raynaud phenomenon, Arterial oc... OMIM:259900
Timothy Syndrome
Prolonged QT interval, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Bradycardia... OMIM:601005
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract, Hepatomegaly OMIM:613730
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Optic atrophy, Cardiomyopathy ORPHA:1177
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Fanconi Anemia, Complementation Group V
Anemia, Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Neutropenia OMIM:617243
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Microvesicular hepatic... OMIM:610198
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Cardiomyopathy, Abnormal retinal nerve fiber ... ORPHA:1215
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Optic atrophy OMIM:614651
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, O... OMIM:609033
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly ORPHA:309288
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Null Syndrome
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri... ORPHA:280234
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Subcapsular cat... OMIM:612674
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous system phys... OMIM:598500
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Optic... ORPHA:585
Leukodystrophy, Hypomyelinating, 22
Optic disc pallor, Astigmatism OMIM:619328
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Elliptocytosis 1
Pallor OMIM:611804
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy ORPHA:1021
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Abnormality of the liver, Cataract, Optic atrophy ORPHA:44
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Retinitis Pigmentosa 75
Pallor OMIM:617023
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... OMIM:616959
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Optic atrophy, Leukopenia, Cardiomyopathy, Pan... ORPHA:27
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria OMIM:619649
Kearns-Sayre Syndrome
Sideroblastic anemia, Pigmentary retinopathy, Cardiomyopathy, Third degree atrioventricular block... OMIM:530000
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Cinca Syndrome
Papilledema, Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree... OMIM:617021
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... OMIM:300578
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Dravet Syndrome
Pallor ORPHA:33069
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... OMIM:268315
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Cataract, Angina pectoris, Transient ischemic a... ORPHA:324
Juvenile Sialidosis Type 2
Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Hepatosplenomegaly, Cherry red spot of th... ORPHA:93399
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Optic atrophy, Bradycardia, Hypertrophic cardiomyopathy, Ascites OMIM:614702
Cold Agglutinin Disease
Pallor ORPHA:56425
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Papilledema, Atrioventricular block, Hypertension, Pterygium, Iris coloboma ORPHA:371428
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Optic atrophy, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Optic disc pallor, Optic atrophy, Shortened PR interval, Hyperten... OMIM:614947
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Jaundice, Dilated cardiomyopathy, Ventricular t... ORPHA:26793
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor OMIM:266200
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Normocytic anemia, Gastrointestinal hemorrhage, Nodular regenerative hy... ORPHA:247691
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Leptospirosis
Papilledema, Hepatomegaly, Pericarditis, First degree atrioventricular block, Conjunctival hypere... ORPHA:509
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... OMIM:614195
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Mucopolysaccharidosis Type 3
Hepatomegaly, Cataract, Corneal opacity, Adenoiditis, Cardiomegaly, Splenomegaly, Recurrent tonsi... ORPHA:581
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor OMIM:609053
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Wolfram Syndrome 1
Sideroblastic anemia, Cataract, Megaloblastic anemia, Optic atrophy, Pigmentary retinopathy, Card... OMIM:222300
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:261
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa... ORPHA:98855
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:98853
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Alagille Syndrome
Keratoconus, Hepatomegaly, Telangiectasia of the skin, Corneal dystrophy, Abnormal pupil morpholo... ORPHA:52
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at... OMIM:259710
Tay-Sachs Disease
Pallor OMIM:272800
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Cataract, First degree atrioventricular block ORPHA:589821
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy OMIM:609541
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... ORPHA:308552
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block ORPHA:392
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl... ORPHA:98863
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Pulmonary embolism, Abnormal ... ORPHA:3205
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Mevalonic Aciduria
Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Fluctuating hepatomegaly, Fluctuating... OMIM:610377
Leber Congenital Amaurosis 15
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... OMIM:613843
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Walker-Warburg Syndrome
Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Optic ... ORPHA:899
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Gapo Syndrome
Keratoconus, Hepatomegaly, Facial palsy, Retinal arteriolar tortuosity, Optic atrophy, Shallow an... OMIM:230740
Angelman Syndrome
Keratoconus, Optic disc pallor, Optic atrophy, Astigmatism, Iris hypopigmentation ORPHA:72
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Cardiomegaly,... OMIM:620066
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
American Trypanosomiasis
Pallor ORPHA:3386
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Warburg-Cinotti Syndrome
Retinal dystrophy, Symblepharon, Decreased corneal thickness, Corneal neovascularization, Limbal ... OMIM:618175
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... ORPHA:892
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Senior-Loken Syndrome 8
Pallor OMIM:616307
Childhood Absence Epilepsy
Pallor ORPHA:64280
Heart Block, Congenital
Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria... OMIM:234700
Joubert Syndrome 8
Optic disc pallor, Prolonged neonatal jaundice, Pigmentary retinopathy, Hepatomegaly OMIM:612291
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis, Cirrhosis OMIM:242150
Letterer-Siwe Disease
Pallor OMIM:246400
Familial Dysautonomia
Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal p... ORPHA:1764
Friedreich Ataxia
Abnormal EKG, Congestive heart failure, Optic atrophy, Hypertrophic cardiomyopathy, Decreased sen... OMIM:229300
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, ... OMIM:619167
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Myopic astigmatism, Ocular albinism, Blue ... OMIM:614077
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Gapo Syndrome
Keratoconus, Optic atrophy ORPHA:2067
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at... ORPHA:79102
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Thrombocytopenia OMIM:251110
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Normochromic anemia, Bradycardia, Cholelithiasis, Hype... OMIM:618775
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity, Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Costello Syndrome
Keratoconus, Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:3071
Arterial Tortuosity Syndrome
Keratoconus, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart ... ORPHA:3342
Sepsis In Premature Infants
Pallor, Petechiae, Purpura ORPHA:90051
Triosephosphate Isomerase Deficiency
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice... OMIM:615512
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... ORPHA:369929
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Classic Homocystinuria
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Hepatomegal... ORPHA:394
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Hypertension, Second degree atrioventricular block, Pulmonary arter... OMIM:615474
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Combined Oxidative Phosphorylation Deficiency 29
Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy OMIM:616811
Nail-Patella Syndrome
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology,... OMIM:231550
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Arterial Tortuosity Syndrome
Aortic regurgitation, Keratoconus, Hypertension, Astigmatism, Ischemic stroke, Aortic valve steno... OMIM:208050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio... OMIM:613154
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
African Trypanosomiasis
Papilledema, Hepatomegaly, Pericarditis, Abnormal EKG, Keratitis, Splenomegaly, Jaundice, Myocard... ORPHA:3385
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, L... OMIM:260920
Aregenerative Anemia
Pallor ORPHA:101096
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Lacrimoauriculodentodigital Syndrome
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... ORPHA:2363
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve... ORPHA:365
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Retinal detachment, Keratoconus, Congestive heart failure, Arterial ... OMIM:225400
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Adenohypophysitis
Pallor ORPHA:95512
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Hepatomegaly... ORPHA:90324
Panhypophysitis
Pallor ORPHA:95513
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Optic atrophy, Hepatic fibrosis, Cirrhosis, Rod-cone dystrophy OMIM:601539
Primary Hyperoxaluria
Optic disc pallor, Choroidal neovascularization, Heart block, Raynaud phenomenon, Arterial occlus... ORPHA:416
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Raynaud phenomenon, Splenomegaly, Leukocytosis, ... OMIM:615688
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Thrombocytopenia OMIM:251100
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Retinal dystrophy, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dys... OMIM:614863
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Bardet-Biedl Syndrome 20
Papilledema, Astigmatism, Retinal vascular tortuosity, Rod-cone dystrophy, Pancreatitis OMIM:619471
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... OMIM:606519
Pituitary Apoplexy
Pallor ORPHA:95613
Beta-Thalassemia Major
Pallor, Skin ulcer ORPHA:231214
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Prolactinoma
Pallor ORPHA:2965
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Temtamy Preaxial Brachydactyly Syndrome
Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy ORPHA:363417
Knobloch Syndrome 1
Retinal detachment, Optic disc pallor, Band keratopathy, Chorioretinal atrophy, Developmental cat... OMIM:267750
Fumarase Deficiency
Pallor OMIM:606812
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... OMIM:619573
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Incontinentia Pigmenti
Erythema, Pallor OMIM:308300
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Optic atrophy, Optic nerve compression, Anemia OMIM:612301
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Meckel Syndrome
Accessory spleen, Cataract, Abnormal chorioretinal morphology, Pancreatic fibrosis, Sclerocornea,... ORPHA:564
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
Stankiewicz-Isidor Syndrome
Abnormal optic disc morphology OMIM:617516
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy OMIM:604928
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Anemic pallor OMIM:227645
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Papilledema, Anemia, Developmental cataract OMIM:127000
Diamond-Blackfan Anemia 1
Intrauterine growth retardation, Spina bifida occulta, Pallor OMIM:105650
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... ORPHA:71505
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Esophageal Atresia
Pallor ORPHA:1199
Ramon Syndrome
Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy, Telangiectasia OMIM:266270
Idiopathic Hypereosinophilic Syndrome
Pallor ORPHA:3260
Atrial Septal Defect 1
Second degree atrioventricular block, Aortic valve stenosis OMIM:108800
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Acromesomelic Dysplasia 4
Third degree atrioventricular block OMIM:619636
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Degcags Syndrome
Intrauterine growth retardation, Pallor OMIM:619488
Meier-Gorlin Syndrome 7
Heart block, Second degree atrioventricular block, Meconium peritonitis OMIM:617063
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... ORPHA:649
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... ORPHA:67036
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascu... ORPHA:91500
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Diamond-Blackfan Anemia
Pallor ORPHA:124
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Retin... ORPHA:508498
Autosomal Recessive Malignant Osteopetrosis
Pallor ORPHA:667
Leopard Syndrome 1
Bundle branch block, Hypertrophic cardiomyopathy, Third degree atrioventricular block, Pulmonic s... OMIM:151100
Fanconi Anemia, Complementation Group D2
Anemic pallor OMIM:227646
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy ORPHA:397715
7Q11.23 Microduplication Syndrome
Abnormal optic disc morphology, Astigmatism, Aortic valve stenosis ORPHA:96121
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Decreased nerve conduction velocity, Cystocele, Keratoconjunctivitis sicca, Arrhythmia ORPHA:285
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Cystocele, Arteria... OMIM:130050
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism ORPHA:255210
Goodpasture Syndrome
Pallor OMIM:233450
Vascular Ehlers-Danlos Syndrome
Keratoconus, Telangiectasia of the skin, Transient ischemic attack, Abnormal pupil morphology, Cy... ORPHA:286
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125
Friedreich Ataxia 2
Decreased pyruvate carboxylase activity OMIM:601992
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Facial diplegia, Hypertrophic cardiomyopathy, Sensory axonal neuropathy, Conjunctival hyperemia OMIM:619121

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 Shmt2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Shmt2.

No publications found that use IMPC mice or data for Shmt2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Shmt2tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Shmt2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Shmt2em1(IMPC)Bay Exon Deletion Mice

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