Gene Summary

Name:
adaptor-related protein complex 1, sigma 2 subunit
Synonyms:
EST1,  1500012A13Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
impaired pupillary reflex Ap1s2em1(IMPC)Mbp HEM Early adult 1.43×10-08
decreased fasting circulating glucose level Ap1s2em1(IMPC)Mbp HOM   Early adult 8.34×10-05
abnormal eye morphology Ap1s2em1(IMPC)Mbp HOM Early adult 0.00
increased vertical activity Ap1s2em1(IMPC)Mbp HOM   Early adult 5.12×10-11
microphthalmia Ap1s2em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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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 Whole Body Dorso Ventral

60 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

Human diseases caused by Ap1s2 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 Ap1s2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pettigrew Syndrome
Self-injurious behavior, Flexion contracture, Choreoathetosis, Gait ataxia OMIM:304340
Fried Syndrome
Gait disturbance, Aggressive behavior ORPHA:85335
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Gait disturbance, Aggressive behavior ORPHA:85329
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Inguinal hernia ORPHA:1568

The table below shows human diseases predicted to be associated to Ap1s2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90160
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy OMIM:305800
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90157
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Generalized lipodystrophy, Small for gestational age, Failure to thrive ORPHA:50811
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Progressive loss of facial adipose tissue, Lipodystrophy, Loss of subcutaneous adipose tissue fro... OMIM:613913
Lipase Deficiency, Combined
Lipodystrophy OMIM:246650
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90159
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy OMIM:615238
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse hair, Abnormal eyelash morphology, Lipoatrophy, Aplasia/Hypoplasia of the eyebrow, Sparse ... ORPHA:1818
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Abdominal obesity OMIM:615980
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Increased facial adipose tissue, Loss of... OMIM:608600
Familial Isolated Dilated Cardiomyopathy
Lipoatrophy ORPHA:154
Stiff Skin Syndrome
Camptodactyly, Lipodystrophy, Elbow flexion contracture, Knee flexion contracture OMIM:184900
Growth Factors, Combined Defect Of
Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion contracture OMIM:233805
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy OMIM:613877
Congenital Short Bowel Syndrome
Lipoatrophy, Sparse hair ORPHA:2301
Lipodystrophy, Congenital Generalized, Type 3
Hirsutism, Reduced subcutaneous adipose tissue, Lipodystrophy, Generalized lipodystrophy OMIM:612526
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90158
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Lipodystrophy, Absence of subcutaneous fat, Decreased adipose ti... OMIM:606721
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Congenital generalized lipodystrophy, Sparse facial hair, Sparse axillary hair, Sm... OMIM:608154
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Loss of gluteal subcutaneous adipose tissue, Lo... ORPHA:280356
Centrifugal Lipodystrophy
Lack of facial subcutaneous fat, Lipoatrophy, Absence of subcutaneous fat, Alopecia, Reduced subc... ORPHA:90156
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Abnormal hair morphology, Lipodystrophy, Flexion contracture, Lipoatro... ORPHA:1979
Analbuminemia
Lipodystrophy OMIM:616000
Acquired Partial Lipodystrophy
Generalized hirsutism, Lipoatrophy ORPHA:79087
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Multiple lipomas ORPHA:2398
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Lipodystrophy OMIM:212112
Acute Zonal Occult Outer Retinopathy
Vitritis, Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal pigment epithelial... ORPHA:284454
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Ataxia OMIM:615771
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy ORPHA:79084
Ddost-Cdg
Lipodystrophy, Failure to thrive ORPHA:300536
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Rapidly Involuting Congenital Hemangioma
Lipoatrophy ORPHA:141184
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Ruijs-Aalfs Syndrome
Lipodystrophy, Elbow flexion contracture, Decreased body weight OMIM:616200
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized hirsutism, Gait ataxia, Reduced intraabdominal adipose tissue, Ataxia, Progressive ps... ORPHA:363400
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Lipoatrophy, Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hirsutism, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous adipo... OMIM:604367
Nanophthalmos 4
Microphthalmia OMIM:615972
Progeroid Syndrome, Petty Type
Shagreen patch, Sparse hair, Abnormal hair morphology, Lipoatrophy, Long eyelashes in irregular r... ORPHA:2963
Acrogeria
Lipoatrophy, Fine hair ORPHA:2500
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Increased intraabdominal fat ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Lipodystrophy, Increased adipose tissue around the neck, Loss of gl... ORPHA:435660
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microcephalic Primordial Dwarfism, Montreal Type
Shagreen patch, Premature graying of hair, Abnormal hair quantity, Lipoatrophy, Alopecia of scalp... ORPHA:2617
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue i... ORPHA:435651
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Keppen-Lubinsky Syndrome
Flexion contracture, Generalized lipodystrophy, Absence of subcutaneous fat, Failure to thrive OMIM:614098
C3 Glomerulopathy
Lipodystrophy ORPHA:329918
Cherubism
Marcus Gunn pupil, Macular scar, Optic neuropathy OMIM:118400
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, Atypical scarring of skin, Lipodystrophy, Flexion contracture, Sparse scalp hair,... ORPHA:75496
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Gombo Syndrome
Microphthalmia OMIM:233270
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Lipodystrophy, Lipoatrophy, Generalized hirsutism, Loss of subcutaneous adipose tissu... ORPHA:2348
Congenital Generalized Lipodystrophy
Low anterior hairline, Adipose tissue loss, Lipodystrophy, Hypertrichosis, Failure to thrive, Low... ORPHA:528
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lipodystrophy, Panniculitis, Failure to thrive in infancy OMIM:617099
Lipodystrophy, Familial Partial, Type 2
Increased intraabdominal fat, Adipose tissue loss, Increased adipose tissue around the neck, Lipo... OMIM:151660
Short Syndrome
Lipodystrophy, Inguinal hernia, Lipoatrophy, Small for gestational age OMIM:269880
Insulin-Like Growth Factor I, Resistance To
Highly arched eyebrow, Lipodystrophy, Synophrys, Decreased body weight, Sparse scalp hair, Trunca... OMIM:270450
Cutis Laxa, Autosomal Recessive, Type Iia
Lipodystrophy, Coarse hair, Inguinal hernia, Brittle hair, Failure to thrive, Abnormality of hair... OMIM:219200
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Lipoatrophy, Sparse and thin eyebrow, Failure to thrive, Sparse eyelashes OMIM:614008
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Flexion contracture OMIM:615381
Aredyld Syndrome
Abnormal dental enamel morphology, Lipoatrophy, Cachexia, Aplasia/Hypoplasia of the eyebrow, Spar... ORPHA:1133
Short Syndrome
Abnormal dental enamel morphology, Sparse hair, Lipodystrophy, Weight loss, Inguinal hernia, Alop... ORPHA:3163
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Obesity ORPHA:86816
Proteasome-Associated Autoinflammatory Syndrome 4
Panniculitis, Flexion contracture, Generalized lipodystrophy OMIM:619183
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Cimdag Syndrome
Dystonia, Chorea, Lipodystrophy, Ataxia, Polymicrogyria OMIM:619273
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Lipodystrophy, Toe walking, Achilles tendon contracture, Waddling gait, Decreas... ORPHA:98855
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue ORPHA:199276
Stiff Skin Syndrome
Lipoatrophy ORPHA:2833
Becker Nevus Syndrome
Supernumerary nipple, Lipoatrophy ORPHA:64755
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Pachygyria, Sparse hair, Dementia, Thick hair, Abnormal subcutaneous fat tissue distribution, Lip... ORPHA:357074
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Proteasome-Associated Autoinflammatory Syndrome 3
Lipodystrophy, Panniculitis, Flexion contracture, Failure to thrive OMIM:617591
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Flexion contracture, Lipodystrophy, Sparse scalp hair, ... OMIM:248370
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Flexion contracture, Loss of truncal subcutaneous adipose tissue, Brittle hair, Alop... OMIM:608612
X-Linked Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Lipodystrophy, Toe walking, Achilles tendon contracture, Waddling gait, Decreas... ORPHA:98863
Mandibuloacral Dysplasia
Increased intraabdominal fat, Sparse hair, Increased adipose tissue around the neck, Lipoatrophy,... ORPHA:2457
Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Lipodystrophy, Toe walking, Achilles tendon contracture, Waddling gait, Decreas... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Lipodystrophy, Toe walking, Achilles tendon contracture, Waddling gait, Decreas... ORPHA:98853
Cushing Disease
Lethargy, Lipodystrophy, Truncal obesity, Anxiety, Failure to thrive, Generalized hirsutism ORPHA:96253
Primary Lipodystrophy
Lipodystrophy, Lipoatrophy ORPHA:90970
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Sparse hair OMIM:601812
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Increased intraabdominal fat, Premature graying of hair, Lipoatrophy, I... ORPHA:280365
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Ataxia OMIM:278780
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Microphthalmia, Hyperactivity OMIM:274270
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Lipodystrophy, Failure to thrive OMIM:618922
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Lipodystrophy ORPHA:300751
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Flexion contracture, Hirsutism, Failure to thrive OMIM:613327
Dk1-Cdg
Lipoatrophy ORPHA:91131
Ane Syndrome
Lipoatrophy, Motor deterioration, Multiple joint contractures, Motor neuron atrophy, Alopecia ORPHA:157954
Fucosidosis
Lipoatrophy, Failure to thrive ORPHA:349
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Werner Syndrome
Slender build, Premature graying of hair, Chondrocalcinosis, Abnormal hair whorl, Lipodystrophy, ... ORPHA:902
Poems Syndrome
Hypertrichosis, Lipodystrophy, Leukonychia, Weight loss ORPHA:2905
Graft Versus Host Disease
Dupuytren contracture, Lipodystrophy, Failure to thrive, Fasciitis ORPHA:39812
Pparg-Related Familial Partial Lipodystrophy
Generalized hirsutism, Lipoatrophy, Loss of facial adipose tissue, Loss of subcutaneous adipose t... ORPHA:79083
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia, Attention deficit hyperactivity disorder OMIM:617914
H Syndrome
Abnormal eyebrow morphology, Camptodactyly, Lipodystrophy, Hypertrichosis, Hernia, Alopecia ORPHA:168569
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia ORPHA:83461
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Dysmetria, Ataxia, Microphthalmia, Hypoglycemia ORPHA:48431
Mmep Syndrome
Microphthalmia ORPHA:3434
Mandibuloacral Dysplasia With Type B Lipodystrophy
Nail dystrophy, Abnormal hair morphology, Generalized lipodystrophy, Alopecia ORPHA:90154
De Barsy Syndrome
Sparse hair, Lipodystrophy, Umbilical hernia, Progressive cerebellar ataxia, Inguinal hernia, Fai... ORPHA:2962
Lipodystrophy, Congenital Generalized, Type 1
Reduced intraabdominal adipose tissue, Lipodystrophy, Hirsutism, Umbilical hernia, Reduced intrat... OMIM:608594
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Keppen-Lubinsky Syndrome
Congenital generalized lipodystrophy, Lipodystrophy, Flexion contracture, Failure to thrive, Loss... ORPHA:435628
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Lipoatrophy, Generalized lipodystrophy, Absence of subcutane... OMIM:616914
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Lipodystrophy, Congenital Generalized, Type 2
Reduced intraabdominal adipose tissue, Lipodystrophy, Hirsutism, Umbilical hernia, Reduced intrat... OMIM:269700
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Multiple lipomas ORPHA:276280
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Acquired Generalized Lipodystrophy
Generalized hirsutism, Panniculitis, Generalized lipodystrophy ORPHA:79086
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Lipodystrophy, Multiple lipomas, Alopecia ORPHA:2396
Lmna-Related Cardiocutaneous Progeria Syndrome
Sparse hair, Premature graying of hair, Absent eyelashes, Lipoatrophy, Absent eyebrow, Alopecia u... ORPHA:363618
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Flexion contracture of finger, Premature graying of hair, Adipose tissue... OMIM:256040
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Cofs Syndrome
Microphthalmia ORPHA:1466
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Neonatal Marfan Syndrome
Flexion contracture, Small for gestational age, Lipoatrophy ORPHA:284979
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Optic nerve hypoplasia, Unilateral microph... ORPHA:137902
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Broad-based gait OMIM:618805
Pierpont Syndrome
Microphthalmia ORPHA:487825
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia OMIM:615113
Oculoauricular Syndrome
Macular hypoplasia, Microphakia, Microphthalmia OMIM:612109
Wrinkly Skin Syndrome
Sparse hair, Lipodystrophy, Umbilical hernia, Progressive cerebellar ataxia, Inguinal hernia, Fai... ORPHA:2834
Myoclonic-Astatic Epilepsy
Ataxia, Unsteady gait, Microphthalmia, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:1942
Osteoporosis-Pseudoglioma Syndrome
Loss of ability to walk, Waddling gait, Microphthalmia ORPHA:2788
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Congenital Rubella Syndrome
Type I diabetes mellitus, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Pierpont Syndrome
Microphthalmia OMIM:602342
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Dystonia, Microphthalmia OMIM:614105
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Aicardi-Goutières Syndrome
Dystonia, Difficulty walking, Panniculitis, Lipoatrophy, Multiple joint contractures, Irritability ORPHA:51
Wiedemann-Rautenstrauch Syndrome
Truncal ataxia, Sparse hair, Flexion contracture, Lipoatrophy, Absence of subcutaneous fat, Broad... OMIM:264090
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Type II diabetes mellitus ORPHA:3191
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Anterior Segment Dysgenesis 5
Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Microphthalmia OMIM:604229
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Atypical Werner Syndrome
Abnormal hair morphology, Chondrocalcinosis, Abnormal hair quantity, Premature graying of hair, A... ORPHA:79474
Temtamy Syndrome
Microphthalmia ORPHA:1777
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse eyebrow, Sparse hair, Flexion contracture, Generalized lipodystrophy, Nail dystrophy OMIM:619127
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Norrie Disease
Hypoplasia of the iris, Microphthalmia OMIM:310600
Joubert Syndrome 22
Microphthalmia OMIM:615665
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia, Attention deficit hyperactivity disorder OMIM:152950
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of th... ORPHA:2334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Monosomy 18P
Generalized dystonia, Microphthalmia ORPHA:1598
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Joubert Syndrome 14
Microphthalmia, Ataxia OMIM:614424
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Wiedemann-Rautenstrauch Syndrome
Slender build, Camptodactyly of finger, Truncal ataxia, Congenital generalized lipodystrophy, Spa... ORPHA:3455
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Moebius Syndrome
Dysdiadochokinesis, Gait disturbance, Microphthalmia OMIM:157900
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:3378
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Attention deficit hyperactivity disorder ORPHA:494344
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Seckel Syndrome 2
Microphthalmia OMIM:606744
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Inability to walk, Gait disturbance, Difficulty walking, Microphthalmia OMIM:618571
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Refsum Disease
Microphthalmia, Ataxia ORPHA:773
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Microphthalmia, Ataxia ORPHA:435638
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Warburg Micro Syndrome 4
Inability to walk, Microphthalmia OMIM:615663
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Pettigrew Syndrome
Self-injurious behavior, Flexion contracture, Choreoathetosis, Gait ataxia OMIM:304340
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Rodrigues Blindness
Microphthalmia OMIM:268320
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia OMIM:120200
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Spondyloepiphyseal Dysplasia, Nishimura Type
Microphthalmia ORPHA:163649
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Attention deficit hyperactivity disorder ORPHA:404440
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Ataxia, Hyperactivity ORPHA:369891
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
3Q29 Microdeletion Syndrome
Gait disturbance, Microphthalmia, Attention deficit hyperactivity disorder ORPHA:65286
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia, Ataxia OMIM:278730
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Ataxia OMIM:610651
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Hyperactivity OMIM:619148
Joubert Syndrome 2
Microphthalmia, Ataxia OMIM:608091
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos OMIM:600122
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:206900
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Pmm2-Cdg
Abnormal subcutaneous fat tissue distribution, Lipodystrophy, Ataxia, Multiple joint contractures... ORPHA:79318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Microphthalmia OMIM:600123
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Papillorenal Syndrome
Microphthalmia OMIM:120330
Hallermann-Streiff Syndrome
Microphthalmia, Hyperactivity OMIM:234100
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Histiocytoid Cardiomyopathy
Congenital aphakia, Lethargy, Microphthalmia, Hypoglycemia ORPHA:137675
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Microphthalmia ORPHA:3301
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Holoprosencephaly
Dystonia, Hypoglycemia, Microphthalmia, Anophthalmia, Diabetes mellitus ORPHA:2162
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Dystonia, Microphthalmia, Ataxia OMIM:251300
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Difficulty walking, Microphthalmia ORPHA:464738
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Micro Syndrome
Microphthalmia ORPHA:2510
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Hyperactivity OMIM:223370
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Cat Eye Syndrome
Microphthalmia OMIM:115470
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Phthisis bulbi, Microphthalmia OMIM:221900
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia OMIM:271960
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Pelvis-Shoulder Dysplasia
Waddling gait, Bilateral microphthalmos ORPHA:2839
Monosomy 9Q22.3
Microphthalmia, Hyperactivity ORPHA:77301
Mosaic Trisomy 9
Microphthalmia ORPHA:99776
Frontorhiny
Microphthalmia ORPHA:391474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Incontinentia Pigmenti
Gait disturbance, Microphthalmia, Attention deficit hyperactivity disorder ORPHA:464
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Fried Syndrome
Gait disturbance, Aggressive behavior ORPHA:85335
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Cousin Syndrome
Microphthalmia OMIM:260660
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Microphthalmia OMIM:607323
Cohen Syndrome
Microphthalmia ORPHA:193
1Q21.1 Microdeletion Syndrome
Microphthalmia, Attention deficit hyperactivity disorder ORPHA:250989
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Oculodentodigital Dysplasia
Microphthalmia, Ataxia OMIM:164200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Fanconi Anemia, Complementation Group D2
Microphthalmia, Attention deficit hyperactivity disorder OMIM:227646
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Fryns Syndrome
Microphthalmia ORPHA:2059
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia ORPHA:2092
Isolated Arrhinia
Microphthalmia ORPHA:1134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Optic nerve hypoplasia, Microphthalmia OMIM:236670
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Cockayne Syndrome
Inability to walk, Progressive gait ataxia, Difficulty walking, Gait disturbance, Ataxia, Microph... ORPHA:191
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Attention deficit hyperactivity disorder OMIM:616975
Jacobsen Syndrome
Macular hypoplasia, Microphthalmia OMIM:147791
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Trisomy 18
Microphthalmia ORPHA:3380
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Mend Syndrome
Microphthalmia, Hyperactivity ORPHA:401973
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia, Ataxia OMIM:133540
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Cockayne Syndrome Type 3
Difficulty walking, Unsteady gait, Microphthalmia ORPHA:90324
Hemifacial Microsomia
Microphthalmia, Anophthalmia OMIM:164210
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Steinfeld Syndrome
Microphthalmia OMIM:184705
Basal Cell Nevus Syndrome
Microphthalmia OMIM:109400
Treacher-Collins Syndrome
Blepharospasm, Microphthalmia ORPHA:861
Trichothiodystrophy
Gait ataxia, Bilateral microphthalmos ORPHA:33364
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microphthalmia ORPHA:959
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia OMIM:601186
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:508498
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:564
Myhre Syndrome
Microphthalmia, Ataxia OMIM:139210
Witteveen-Kolk Syndrome
Microphthalmia, Attention deficit hyperactivity disorder, Hyperactivity OMIM:613406
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610829
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia, Attention deficit hyperactivity disorder ORPHA:534
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
22Q11.2 Deletion Syndrome
Microphthalmia, Attention deficit hyperactivity disorder ORPHA:567
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Lens coloboma ORPHA:42775
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Fanconi Anemia
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:84
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Torticollis, Microphthalmia OMIM:609945
Aicardi Syndrome
Microphthalmia ORPHA:50
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Charge Syndrome
Microphthalmia, Attention deficit hyperactivity disorder, Anophthalmia ORPHA:138
Aicardi Syndrome
Microphthalmia OMIM:304050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Buphthalmos, Microphthalmia OMIM:253280
Norrie Disease
Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Microphthalmia, Diabetes mellitus, Attent... ORPHA:649
Monosomy 9P
Microphthalmia ORPHA:261112
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Holoprosencephaly 2
Microphthalmia OMIM:157170
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
Holoprosencephaly 1
Microphthalmia, Hypoglycemia OMIM:236100
Microphthalmia With Limb Anomalies
True anophthalmia, Microphthalmia ORPHA:1106
Meckel Syndrome, Type 1
Microphthalmia OMIM:249000
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Bilateral microphthalmos ORPHA:468631
Monosomy 13Q14
Microphthalmia ORPHA:1587
Fryns Syndrome
Microphthalmia OMIM:229850
Roberts Syndrome
Microphthalmia ORPHA:3103
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Fontaine Progeroid Syndrome
Microphthalmia OMIM:612289
Focal Dermal Hypoplasia
Aniridia, Microphthalmia, Anophthalmia OMIM:305600
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Yunis-Varon Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:3472
Microphthalmia, Syndromic 2
Phthisis bulbi, Microphthalmia, Anophthalmia OMIM:300166
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Holoprosencephaly 7
Bilateral microphthalmos OMIM:610828
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia, Limb dystonia OMIM:175780
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Neu-Laxova Syndrome 1
Microphthalmia OMIM:256520
Charge Syndrome
Microphthalmia, Anophthalmia OMIM:214800
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Hydrolethalus Syndrome 1
Microphthalmia OMIM:236680
Fraser Syndrome 1
Bilateral microphthalmos, Anophthalmia OMIM:219000
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia OMIM:113620
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Pallister-Hall Syndrome
Microphthalmia ORPHA:672
Mowat-Wilson Syndrome
Inability to walk, Microphthalmia, Ataxia, Broad-based gait ORPHA:2152
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Inability to walk, Microphthalmia, Broad-based gait ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Inability to walk, Microphthalmia, Broad-based gait ORPHA:261552
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Gait disturbance, Aggressive behavior ORPHA:85329
Roberts-Sc Phocomelia Syndrome
Microphthalmia OMIM:268300
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Bilateral microphthalmos, Hyperactivity ORPHA:508488
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Inguinal hernia ORPHA:1568

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 Ap1s2

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 Ap1s2.

No publications found that use IMPC mice or data for Ap1s2.

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MGI Allele Allele Type Produced
Ap1s2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ap1s2em1(IMPC)Mbp Exon Deletion Mice, Tissue
Ap1s2tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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