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Gene: Ap1s2 MGI:1889383

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Gene Summary

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

Order Alleles

IMPC Data Collections

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
abnormal eye morphology Ap1s2em1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Ap1s2em1(IMPC)Mbp HOM Early adult 0.00
increased vertical activity Ap1s2em1(IMPC)Mbp HOM Early adult 2.64×10-06
impaired pupillary reflex Ap1s2em1(IMPC)Mbp HEM Early adult 6.74×10-09
decreased fasting circulating glucose level Ap1s2em1(IMPC)Mbp HOM Early adult 8.24×10-05

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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

120 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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Histopathology

Images

4 Images

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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
Fried Syndrome
Abnormal optic nerve morphology ORPHA:85335
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Inguinal hernia ORPHA:1568
Pettigrew Syndrome
Choreoathetosis, Flexion contracture, Gait ataxia OMIM:304340
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Gait disturbance, Aggressive behavior ORPHA:85329

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, Absence of subcutaneous fat, Lipoatrophy ORPHA:90160
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy OMIM:305800
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90157
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Failure to thrive, Small for gestational age, Slender build, Generalized lipodystrophy ORPHA:50811
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Loss of subcutaneous adipose tissue from upper limbs, Lipodystrophy, Loss of facial adipose tissu... OMIM:613913
Lipase Deficiency, Combined
Lipodystrophy OMIM:246650
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90159
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of th... ORPHA:1818
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... OMIM:608600
Familial Isolated Dilated Cardiomyopathy
Lipoatrophy ORPHA:154
Stiff Skin Syndrome
Elbow flexion contracture, Lipodystrophy, Camptodactyly, Knee flexion contracture OMIM:184900
Congenital Short Bowel Syndrome
Sparse hair, Lipoatrophy ORPHA:2301
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Lipodystrophy OMIM:613877
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90158
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Lipodystrophy, Hirsutism, Generalized lipodystrophy OMIM:612526
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Small for gestational age, Sparse axillary hair, Congenital generalized lipod... OMIM:608154
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Alopecia, Lipoatrophy, Lack of facial subcutaneous fat, Abse... ORPHA:90156
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Reduced subcutaneous adipose tissue, L... ORPHA:280356
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Abnormal hair morpholo... ORPHA:1979
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Analbuminemia
Lipodystrophy OMIM:616000
Acquired Partial Lipodystrophy
Lipoatrophy, Generalized hirsutism ORPHA:79087
Autoinflammatory-Pancytopenia Syndrome
Failure to thrive, Lipodystrophy OMIM:619858
Rapidly Involuting Congenital Hemangioma
Lipoatrophy ORPHA:141184
Ddost-Cdg
Failure to thrive, Lipodystrophy ORPHA:300536
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Lipodystrophy OMIM:615980
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy ORPHA:79084
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Failure to thrive, Lipoatrophy, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Loss of facial adipose tissue, Loss ... ORPHA:435651
Akt2-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Lipodystrophy ORPHA:79085
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Abnormal hair morphology, Long ey... ORPHA:2963
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Loss of gluteal subcutaneous adipose... ORPHA:435660
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy OMIM:615238
Acrogeria
Lipoatrophy, Fine hair ORPHA:2500
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Ataxia, Progressive p... ORPHA:363400
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Lipoatrophy, Low posterior hairline, Premature graying of hair, Alopecia ... ORPHA:2617
Ruijs-Aalfs Syndrome
Lipodystrophy, Elbow flexion contracture, Premature graying of hair, Decreased body weight, Spars... OMIM:616200
C3 Glomerulopathy
Lipodystrophy ORPHA:329918
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Lipodystrophy, Sparse eyelashes, Sparse eyebrow, Flexion contracture, Atypical... ORPHA:75496
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Lipodystrophy OMIM:618048
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Lipodystrophy, Finger joint contracture OMIM:212112
Cherubism
Macular scar, Marcus Gunn pupil, Optic neuropathy OMIM:118400
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Lipodystrophy, Cellulitis, Generalized... ORPHA:2348
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Joint contracture, Lipodystrophy OMIM:615381
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Lipodystrophy, Failure to thrive in infancy OMIM:617099
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Congenital Generalized Lipodystrophy
Lipodystrophy, Adipose tissue loss, Low anterior hairline, Low posterior hairline, Failure to thr... ORPHA:528
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:151660
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Obesity ORPHA:86816
Aredyld Syndrome
Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Sparse body hair, Aplasia/Hypoplasia of... ORPHA:1133
Gombo Syndrome
Microphthalmia OMIM:233270
Proteasome-Associated Autoinflammatory Syndrome 4
Panniculitis, Flexion contracture, Generalized lipodystrophy OMIM:619183
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Sparse scalp hair, Lipodystrophy, Highly arched eyebrow, Syn... OMIM:270450
Cutis Laxa, Autosomal Recessive, Type Iia
Inguinal hernia, Brittle hair, Lipodystrophy, Abnormality of hair texture, Coarse hair, Failure t... OMIM:219200
Short Syndrome
Alopecia, Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss, Sparse ... ORPHA:3163
Alg3-Cdg
Arthrogryposis multiplex congenita, Lipodystrophy ORPHA:79321
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Waddling gait, Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, De... ORPHA:98855
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Cimdag Syndrome
Chorea, Polymicrogyria, Lipodystrophy, Ataxia OMIM:619273
Becker Nevus Syndrome
Lipoatrophy, Supernumerary nipple ORPHA:64755
Stiff Skin Syndrome
Lipoatrophy ORPHA:2833
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Psychomotor deterioration, Inguinal hernia, Failure to thrive, Lipodystrophy, Thick hair, Abnorma... ORPHA:357074
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue ORPHA:199276
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Proteasome-Associated Autoinflammatory Syndrome 3
Panniculitis, Failure to thrive, Flexion contracture, Lipodystrophy OMIM:617591
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, De... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, De... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, De... ORPHA:98853
Short Syndrome
Inguinal hernia, Small for gestational age, Lipoatrophy, Lipodystrophy, Absence of subcutaneous fat OMIM:269880
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... ORPHA:2457
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... ORPHA:280365
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Failure to thrive, Lipodystrophy OMIM:618922
Werner Syndrome
Sparse scalp hair, Lipoatrophy, Lipodystrophy, Abnormal hair whorl, Premature graying of hair, Wh... ORPHA:902
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... OMIM:608612
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Lipodystrophy ORPHA:300751
Ane Syndrome
Alopecia, Multiple joint contractures, Lipoatrophy, Motor neuron atrophy, Motor deterioration ORPHA:157954
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Fucosidosis
Failure to thrive, Lipoatrophy ORPHA:349
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Alopecia, Spar... OMIM:248370
Graft Versus Host Disease
Failure to thrive, Fasciitis, Lipodystrophy, Dupuytren contracture ORPHA:39812
Nanophthalmos 4
Microphthalmia OMIM:615972
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Flexion contracture, Lipodystrophy, Hirsutism OMIM:613327
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Hyperactivity OMIM:274270
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Loss of facial adipose tissue, General... ORPHA:79083
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Ataxia OMIM:278780
Poems Syndrome
Weight loss, Lipodystrophy, Leukonychia, Hypertrichosis ORPHA:2905
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Keppen-Lubinsky Syndrome
Lipodystrophy, Congenital generalized lipodystrophy, Flexion contracture, Failure to thrive, Loss... ORPHA:435628
De Barsy Syndrome
Inguinal hernia, Lipodystrophy, Athetosis, Progressive cerebellar ataxia, Sparse hair, Umbilical ... ORPHA:2962
H Syndrome
Abnormal eyebrow morphology, Alopecia, Lipodystrophy, Hernia, Camptodactyly, Hypertrichosis ORPHA:168569
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Ataxia, Dysmetria, Hypoglycemia ORPHA:48431
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal hair morphology, Alopecia, Nail dystrophy, Generalized lipodystrophy ORPHA:90154
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy, Generalized lipody... OMIM:616914
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Ataxia OMIM:615771
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Sparse scalp h... OMIM:606721
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Reduce... OMIM:608594
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Acquired Generalized Lipodystrophy
Panniculitis, Generalized hirsutism, Generalized lipodystrophy ORPHA:79086
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Dpagt1-Cdg
Lipodystrophy, Ataxia, Akinesia, Inability to walk, Flexion contracture, Camptodactyly, Emotional... ORPHA:86309
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Flexion contracture, Absence of subcutaneous fat, Generalized li... OMIM:614098
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Mmep Syndrome
Microphthalmia ORPHA:3434
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Lipoatrophy, Sparse eyelashes, Sparse eyebrow, Flexion contracture, ... OMIM:614008
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Reduce... OMIM:269700
Hemihyperplasia-Multiple Lipomatosis Syndrome
Multiple lipomas, Lipoatrophy ORPHA:276280
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Barber-Say Syndrome
Absent nipple, Lipodystrophy, Sparse eyelashes, Sparse eyebrow, Low anterior hairline, Hypoplasti... OMIM:209885
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Multiple lipomas, Alopecia, Lipodystrophy ORPHA:2396
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Premature Aging Syndrome, Penttinen Type
Failure to thrive, Lipoatrophy, Sparse hair, Keloids, Joint contracture, Flexion contracture of f... OMIM:601812
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Lipoatrophy, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia u... ORPHA:363618
Proteasome-Associated Autoinflammatory Syndrome 1
Failure to thrive, Lipodystrophy, Camptodactyly of finger, Sparse axillary hair, Adipose tissue l... OMIM:256040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Alg9-Cdg
Omphalocele, Lipodystrophy, Low posterior hairline, Irritability, Hypoplastic nipples, Hypertrich... ORPHA:79328
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Cofs Syndrome
Microphthalmia ORPHA:1466
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Neonatal Marfan Syndrome
Small for gestational age, Flexion contracture, Lipoatrophy ORPHA:284979
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Inability to walk, Microphthalmia OMIM:613155
Developmental And Epileptic Encephalopathy 1
Choreoathetosis, Microphthalmia, Dysphagia OMIM:308350
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Microphthalmia ORPHA:1942
Wrinkly Skin Syndrome
Inguinal hernia, Lipodystrophy, Progressive cerebellar ataxia, Sparse hair, Umbilical hernia, Fai... ORPHA:2834
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Lens coloboma, Self-injurious behavior, Microphthalmia, Abnorma... OMIM:618914
Pierpont Syndrome
Microphthalmia ORPHA:487825
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
17Q12 Microduplication Syndrome
Microphthalmia, Self-injurious behavior ORPHA:261272
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Broad-based gait OMIM:618805
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Pierpont Syndrome
Microphthalmia OMIM:602342
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Microphthalmia, Waddling gait ORPHA:2788
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos, Tongue thrusting ORPHA:77299
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:152950
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Type I diabetes mellitus ORPHA:290
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Failure to thrive, Lipoatrophy, Abnormal hair morphology, Abnor... ORPHA:79474
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Aicardi-Goutières Syndrome
Multiple joint contractures, Lipoatrophy, Irritability, Panniculitis, Difficulty walking ORPHA:51
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse eyebrow, Flexion contracture, Generalized lipodystrophy, Nail dystrophy, Sparse hair OMIM:619127
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Lissencephaly 8
Microphthalmia OMIM:617255
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Temtamy Syndrome
Microphthalmia ORPHA:1777
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Restlessness, Hyperactivity, Ataxia, Aggressive behavior, Bilateral microphthalmos, Agitation, Ov... ORPHA:369891
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Type II diabetes mellitus ORPHA:3191
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Failure to thrive, Lipoatrophy, Confusion... ORPHA:3455
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Insulin resistance OMIM:214150
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Lipoatrophy, Sp... OMIM:264090
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia ORPHA:494344
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Joubert Syndrome 22
Microphthalmia OMIM:615665
Moebius Syndrome
Microphthalmia, Dysdiadochokinesis, Gait disturbance, Dysphagia OMIM:157900
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia, Attention deficit hyperactivity disorder OMIM:617914
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Dysphagia OMIM:612379
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Aggressive behavior, Gait disturbance, Attention deficit hyperactivity disorder, Compulsive behav... OMIM:620098
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Temtamy Syndrome
Microphthalmia, Self-mutilation OMIM:218340
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Inability to walk, Microphthalmia, Dysphagia OMIM:618494
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Fanconi Anemia, Complementation Group S
Microphthalmia, Ataxia OMIM:617883
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Attention deficit hyperactivity disorder, Compulsive behaviors ORPHA:404440
3P25.3 Microdeletion Syndrome
Microphthalmia, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Ataxia ORPHA:435638
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Seckel Syndrome 2
Microphthalmia OMIM:606744
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:3378
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:85284
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Inability to walk, Microphthalmia, Gait disturbance, Difficulty walking OMIM:618571
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos, Aggressive behavior OMIM:310600
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Warburg Micro Syndrome 4
Inability to walk, Microphthalmia OMIM:615663
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Joubert Syndrome 37
Microphthalmia OMIM:619185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Monosomy 18P
Microphthalmia ORPHA:1598
Refsum Disease
Microphthalmia, Ataxia ORPHA:773
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
3Q29 Microdeletion Syndrome
Microphthalmia, Gait disturbance, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:65286
Warburg Micro Syndrome 3
Inability to walk, Microphthalmia OMIM:614222
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Rodrigues Blindness
Microphthalmia OMIM:268320
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Neonatal hypoglycemia ORPHA:35173
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Joubert Syndrome 14
Microphthalmia, Ataxia OMIM:614424
Atelis Syndrome 2
Microphthalmia, Attention deficit hyperactivity disorder, Hyperinsulinemia, Dysmetria OMIM:620185
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Xeroderma Pigmentosum, Complementation Group D
Choreoathetosis, Microphthalmia, Ataxia OMIM:278730
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Hyperactivity, Aggressive behavior OMIM:619148
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia OMIM:609053
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Pmm2-Cdg
Multiple joint contractures, Lipodystrophy, Ataxia, Abnormal subcutaneous fat tissue distribution... ORPHA:79318
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Ataxia OMIM:610651
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Microphthalmia, Difficulty walking, Aggressive behavior ORPHA:464738
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Microphthalmia, Lenz Type
Microphthalmia, Self-injurious behavior ORPHA:568
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia ORPHA:3301
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Micro Syndrome
Microphthalmia ORPHA:2510
Joubert Syndrome 2
Microphthalmia, Ataxia OMIM:608091
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
1Q21.1 Microdeletion Syndrome
Microphthalmia, Attention deficit hyperactivity disorder ORPHA:250989
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia, Ataxia OMIM:251300
Hallermann-Streiff Syndrome
Choreoathetosis, Microphthalmia, Hyperactivity OMIM:234100
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Incontinentia Pigmenti
Microphthalmia, Gait disturbance, Attention deficit hyperactivity disorder ORPHA:464
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Monosomy 9Q22.3
Microphthalmia, Hyperactivity ORPHA:77301
Pelvis-Shoulder Dysplasia
Waddling gait, Bilateral microphthalmos ORPHA:2839
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Hyperactivity OMIM:223370
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Holoprosencephaly
Microphthalmia, Diabetes mellitus, Anophthalmia, Hypoglycemia ORPHA:2162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Frontorhiny
Microphthalmia ORPHA:391474
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Cohen Syndrome
Microphthalmia ORPHA:193
Mosaic Trisomy 9
Microphthalmia ORPHA:99776
Histiocytoid Cardiomyopathy
Microphthalmia, Hypoglycemia, Congenital aphakia ORPHA:137675
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia OMIM:607323
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Mend Syndrome
Microphthalmia, Hyperactivity, Aggressive behavior ORPHA:401973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Fanconi Anemia, Complementation Group L
Microphthalmia, Attention deficit hyperactivity disorder OMIM:614083
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Optic nerve hypoplasia OMIM:614643
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Oculoauricular Syndrome
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia OMIM:612109
Fryns Syndrome
Microphthalmia ORPHA:2059
Papillorenal Syndrome
Microphthalmia OMIM:120330
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia OMIM:243605
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia ORPHA:2092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Microphthalmia, Optic nerve hypoplasia OMIM:236670
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Fanconi Anemia, Complementation Group D2
Microphthalmia, Attention deficit hyperactivity disorder OMIM:227646
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Meckel Syndrome 14
Microphthalmia OMIM:619879
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... OMIM:609049
Cockayne Syndrome
Diabetes mellitus, Ataxia, Inability to walk, Progressive gait ataxia, Gait disturbance, Difficul... ORPHA:191
Oculodentodigital Dysplasia
Microphthalmia, Ataxia OMIM:164200
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disor... ORPHA:534
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:508498
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Attention deficit hyperactivity disorder OMIM:616975
Cousin Syndrome
Microphthalmia OMIM:260660
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Trisomy 18
Microphthalmia ORPHA:3380
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia OMIM:147791
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Cat Eye Syndrome
Microphthalmia OMIM:115470
Cockayne Syndrome Type 3
Microphthalmia, Unsteady gait, Difficulty walking ORPHA:90324
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Isolated Arrhinia
Microphthalmia ORPHA:1134
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia, Ataxia OMIM:133540
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Norrie Disease
Aplasia/Hypoplasia of the lens, Diabetes mellitus, Hypoplasia of the iris, Self-injurious behavio... ORPHA:649
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Trichothiodystrophy
Bilateral microphthalmos, Gait ataxia ORPHA:33364
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Bilateral microphthalmos, Abnormal repetitive mannerisms, Optic nerve hy... ORPHA:468631
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
22Q11.2 Deletion Syndrome
Microphthalmia, Attention deficit hyperactivity disorder ORPHA:567
Charge Syndrome
Compulsive behaviors, Microphthalmia, Anophthalmia, Attention deficit hyperactivity disorder ORPHA:138
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Myhre Syndrome
Microphthalmia, Ataxia OMIM:139210
Steinfeld Syndrome
Microphthalmia OMIM:184705
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:564
Holoprosencephaly 1
Microphthalmia, Hypoglycemia OMIM:236100
Fraser Syndrome 2
Microphthalmia OMIM:617666
Treacher-Collins Syndrome
Microphthalmia ORPHA:861
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Aicardi Syndrome
Microphthalmia ORPHA:50
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia OMIM:620005
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Degcags Syndrome
Microphthalmia, Oral-pharyngeal dysphagia, Choking episodes OMIM:619488
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos OMIM:610828
Fanconi Anemia
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:84
Aicardi Syndrome
Microphthalmia OMIM:304050
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Monosomy 9P
Microphthalmia ORPHA:261112
Witteveen-Kolk Syndrome
Hyperactivity, Aggressive behavior, Type II diabetes mellitus, Attention deficit hyperactivity di... OMIM:613406
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Fryns Syndrome
Microphthalmia OMIM:229850
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:612474
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Attention deficit hyperactivity disorder OMIM:619539
Roberts Syndrome
Microphthalmia ORPHA:3103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia OMIM:620186
Meckel Syndrome, Type 1
Microphthalmia OMIM:249000
Lowe Oculocerebrorenal Syndrome
Microphthalmia, Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Microphthalmia, Syndromic 2
Microphthalmia, Phthisis bulbi, Anophthalmia OMIM:300166
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Fontaine Progeroid Syndrome
Microphthalmia OMIM:612289
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Monosomy 13Q14
Microphthalmia ORPHA:1587
Yunis-Varon Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:3472
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Focal Dermal Hypoplasia
Aniridia, Microphthalmia, Anophthalmia OMIM:305600
8Q24.3 Microdeletion Syndrome
Hyperactivity, Optic nerve hypoplasia, Bilateral microphthalmos, Tics, Dysphagia ORPHA:508488
Charge Syndrome
Anophthalmia, Unilateral microphthalmos, Dysphagia, Microphthalmia, Self-mutilation OMIM:214800
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Chromosome 13Q14 Deletion Syndrome
Microphthalmia OMIM:613884
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Pallister-Hall Syndrome
Microphthalmia, Paroxysmal bursts of laughter ORPHA:672
Neu-Laxova Syndrome 1
Microphthalmia OMIM:256520
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Inability to walk, Dysphagia, Bruxism, Microphthalmia, Abnormal repetit... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Inability to walk, Bruxism, Dysphagia, Microphthalmia, Abnormal repetitive mann... ORPHA:261537
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia OMIM:113620
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Inability to walk, Bruxism, Dysphagia, Microphthalmia, Abnormal repetitive mann... ORPHA:261552
Hydrolethalus Syndrome 1
Microphthalmia OMIM:236680
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Holoprosencephaly 2
Microphthalmia OMIM:157170
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia, Self-mutilation, Aggressive behavior OMIM:309800
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
Roberts-Sc Phocomelia Syndrome
Microphthalmia OMIM:268300
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210
Fried Syndrome
Abnormal optic nerve morphology ORPHA:85335
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Inguinal hernia ORPHA:1568
Pettigrew Syndrome
Choreoathetosis, Flexion contracture, Gait ataxia OMIM:304340
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Gait disturbance, Aggressive behavior ORPHA:85329

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.

Phenotype Allele Zygosity Sex Life Stage
Eye - MPATH pathological process term developmental dysplasia Ap1s2em1(IMPC)Mbp HOM Early adult
Eye - MPATH pathological process term developmental dysplasia Ap1s2em1(IMPC)Mbp HEM Early adult

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.

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
Ap1s2tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ap1s2tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ap1s2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ap1s2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ap1s2em1(IMPC)Mbp Exon Deletion Mice, Tissue

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