Gene Summary

Name:
translational activator of mitochondrially encoded cytochrome c oxidase I
Synonyms:
Ccdc44,  2310066I18Rik

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
iris synechia Taco1em1(IMPC)J HOM   Early adult 8.27×10-05
decreased circulating alanine transaminase level Taco1em1(IMPC)J HOM Late adult 5.79×10-05
increased heart weight Taco1em1(IMPC)J HOM Early adult 2.77×10-05
preweaning lethality, incomplete penetrance Taco1em1(IMPC)J HOM   Early adult 0.00
decreased circulating triglyceride level Taco1em1(IMPC)J HOM Late adult 2.23×10-08
abnormal skin morphology Taco1em1(IMPC)J HOM Early adult 1.56×10-05
increased grip strength Taco1em1(IMPC)J HET   Late adult 2.84×10-05

Download data as:  TSV  XLS

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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 Skull Dorso Ventral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

27 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Taco1 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 Taco1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Progressive cerebellar ataxia, Pigmentary retinopathy, Ventricular s... ORPHA:255241
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Optic atrophy OMIM:619052

The table below shows human diseases predicted to be associated to Taco1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Cerebral cortical hemiatrophy, Abnormality o... ORPHA:33445
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Ethanolaminosis
Cardiomegaly OMIM:227150
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the fundus, Hypopigmentation of the skin, Albinism,... OMIM:606952
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Hypopigmentation of the fundus, Albinism, Blue irides, Macular hypoplas... OMIM:606574
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the skin, Iris transillumi... OMIM:619165
Bornholm Eye Disease
Deuteranopia, High myopia, Amblyopia, Abnormality of retinal pigmentation, Optic nerve hypoplasia... OMIM:300843
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Visual impairment, Hypoplasia of the fovea, Myopia, Hypopigmentation of... OMIM:203200
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Truncal ataxia, Dysesthesia... OMIM:619259
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Abnormal retinal morphology, Myopia, Hypopigmentation of the skin, Albi... ORPHA:2786
Familial Infantile Bilateral Striatal Necrosis
Choreoathetosis, Basal ganglia gliosis, Astrocytosis, Loss of ability to walk, Atrophy/Degenerati... ORPHA:225154
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Cerebellar cyst, Myopia, Blindness, Cerebellar hypoplasia, Retinal detachme... OMIM:615181
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Cerebellar hypoplasia, Global brain atrophy, Optic nerve hypoplasia, Slow-growing h... OMIM:300953
Cardiofaciocutaneous Syndrome 4
Myopia, Cerebellar hypoplasia, Optic nerve hypoplasia, Sparse hair, Abnormal aortic valve morphol... OMIM:615280
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Impaired proprioception, Impaired vibratory sensation, V... OMIM:229300
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Myopia, Cerebellar hypoplasia, Optic nerve hypoplasia, Cerebral cortical ... ORPHA:163937
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Cognitive Impairment With Or Without Cerebellar Ataxia
Amblyopia, Dysmetria, Optic nerve hypoplasia, Ataxia OMIM:614306
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Persistent pupillary membrane, Microcornea, Cataract, Corneal ... OMIM:221900
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Spastic gait, Myopia, Optic nerve hypoplasia, Hypertrophic cardiomyopathy, Ga... ORPHA:496790
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Abnormal best corrected visual acuity test, Optic nerve hypoplasia, Optic... ORPHA:137902
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypo... ORPHA:1067
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of the fundus, Hypopigmentation of hair, Iris hypo... OMIM:126070
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Chiari type I malformation, Optic nerve hypoplasia OMIM:615879
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormal macular morphology, ... ORPHA:897
Hsd10 Disease, Infantile Type
Cerebral atrophy, Visual loss, Retinal degeneration, Choreoathetosis, Blindness, Loss of ability ... ORPHA:391428
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Abnormal retinal morphology, Sparse lateral ... ORPHA:170
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Myopia, Blindness, Cerebellar hypoplasia, Cerebellar cyst, Retinal deta... ORPHA:370959
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of retinal pigmentation, Optic ner... ORPHA:79435
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves, Central nervous system degeneration, Astrocytosis, Global brain... ORPHA:282166
Charcot-Marie-Tooth Disease Type 1F
Somatic sensory dysfunction, Impaired proprioception, Impaired vibratory sensation, Cervical spin... ORPHA:101085
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Oculocutaneous Albinism Type 1
White eyebrow, Hypoplasia of the fovea, Amblyopia, Optic nerve misrouting, Blue irides, White eye... ORPHA:352731
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Astrocytosis, Ataxia, Gliosis, Neuronal loss in central nervous system, Visual ... ORPHA:204
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Sclerocornea, Microcornea, Cataract, Posterior em... OMIM:612109
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Chorea, Optic nerve hypoplasia, Cerebral cortical atrophy, Inability to walk OMIM:617864
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Mel... OMIM:607624
Refsum Disease, Classic
Somatic sensory dysfunction, Retinal degeneration, Ataxia, Rod-cone dystrophy, Cardiomyopathy, Ca... OMIM:266500
Phacoanaphylactic Uveitis
Corneal keratic precipitates, Hypopyon, Abnormal corneal endothelium morphology, Posterior uveiti... ORPHA:209959
Optic Atrophy-Intellectual Disability Syndrome
Myopia, Hypermetropia, Amblyopia, Optic nerve hypoplasia, Optic disc hypoplasia, Cerebral visual ... ORPHA:401777
Squalene Synthase Deficiency
Cerebral visual impairment, Optic nerve hypoplasia, Bicuspid aortic valve, Abnormality of hair pi... OMIM:618156
Idiopathic Anterior Uveitis
Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Nuclear cataract ORPHA:280914
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Neuronal loss in central nervous system, Cerebral cortical atrophy, Astrocytosis, Gait disturbance OMIM:600795
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Abnormal eyelash morp... ORPHA:2885
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Senile plaques, Astrocytosis, Temporal cortical atrophy, ... ORPHA:100070
Cerebral Visual Impairment
Central nervous system degeneration, Optic nerve hypoplasia, Retinopathy of prematurity, Optic di... ORPHA:447788
Optic Nerve Hypoplasia, Bilateral
Morning glory anomaly, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Optic ner... OMIM:165550
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Cardiomegaly, Hepatomegaly, Visual impairment ORPHA:858
5Q14.3 Microdeletion Syndrome
Thick eyebrow, Agenesis of cerebellar vermis, Optic nerve hypoplasia, Frontal cortical atrophy ORPHA:228384
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of the optic nerve, Abnormality of... ORPHA:79434
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Optic nerve hypoplasia, Aplasia/Hypoplasia of the optic nerv... ORPHA:137634
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Myopia, Atrial septal defect, Optic nerve hypoplasia, Chiari malformation, ... OMIM:609053
Oculocutaneous Albinism Type 2
Macular hypopigmentation, White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypoplas... ORPHA:79432
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Hypoplasia of the pons, Optic nerve hypoplasia, Low anterior hairline OMIM:618736
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation ORPHA:3214
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Inability to walk, Difficulty walking, Astrocytosis OMIM:611087
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Abnormal autonomic nervous system physiology, Peripheral axonal neuropathy, Cardiomyopath... OMIM:105210
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Degeneration of anterior horn cells, Astrocytosis OMIM:600333
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... ORPHA:96125
Idiopathic Panuveitis
Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri... ORPHA:280921
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Microcephaly 20, Primary, Autosomal Recessive
Blindness, Optic nerve hypoplasia OMIM:617914
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly, Vitreous floaters, Abnormal autonomic nervous system physiology ORPHA:85447
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Ataxia, Melanin pigment... OMIM:256710
Chromosome 19P13.13 Deletion Syndrome
Chiari type I malformation, Optic nerve hypoplasia, Optic atrophy OMIM:613638
Intermediate Uveitis
Band keratopathy, Cataract, Posterior synechiae of the anterior chamber, Anterior uveitis ORPHA:279914
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Optic disc pallor OMIM:619170
White-Sutton Syndrome
Cerebral atrophy, Patent foramen ovale, Mild myopia, Myopia, Atrial septal defect, Hypermetropia,... OMIM:616364
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Small nail, Hypermetropia, Cerebellar hypoplasia, Global brain atrophy, Optic nerve hypoplasia, H... OMIM:301056
Infantile Sialic Acid Storage Disease
Fair hair, Cerebral atrophy, Hypopigmentation of the skin, Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:269920
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Inability to walk, Hypertrophic cardiomyopathy, Ataxia, Abnormal heart ... ORPHA:70472
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the fundus,... ORPHA:55
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Astrocytosis, Gait disturbance ORPHA:275864
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Optic nerve hypoplasia OMIM:218670
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Visual loss, Hypertrophic cardiomyopathy, Truncal ataxia, Ventricular hypertrophy, ... OMIM:619051
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Neuraminidase Deficiency
Cherry red spot of the macula, Dysmetria, Progressive visual loss, Splenomegaly, Hepatomegaly, Ca... OMIM:256550
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Septo-optic dysplasia, Optic atrophy, Visual impairment ORPHA:1528
Gluteal Muscles, Absence Of
Optic nerve hypoplasia OMIM:231970
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Myopia, Optic nerve hypoplasia, Abnormal hair pattern, Highly arched eyeb... ORPHA:261250
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Progressive cerebellar ataxia, Pigmentary retinopathy, Ventricular s... ORPHA:255241
Oculocutaneous Albinism Type 3
White eyebrow, Optic nerve misrouting, Hypopigmentation of the skin, Blue irides, White eyelashes... ORPHA:79433
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Cerebellar hypoplasia, Optic nerve hypoplasia ORPHA:65288
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Sparse hair OMIM:613576
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Visual impairment, Hypoplasia of the fovea, Myopia, Albinism, Blue irid... OMIM:203100
Chediak-Higashi Syndrome
Hypopigmentation of hair, Neurodegeneration, Hypopigmentation of the skin, Splenomegaly, Ataxia, ... OMIM:214500
Nabais Sa-De Vries Syndrome, Type 1
Long eyelashes, Optic nerve hypoplasia, Highly arched eyebrow, Low anterior hairline, Synophrys OMIM:618828
Cockayne Syndrome Type 3
Premature graying of hair, Retinal degeneration, Retinal hemorrhage, Hypermetropia, Astrocytosis,... ORPHA:90324
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Visual loss, Cerebellar atrophy, Astrocytosis, Gliosis, Hepatomegaly, Ataxia, Cerebral visual imp... OMIM:203700
Combined Oxidative Phosphorylation Deficiency 33
Amblyopia, Hepatomegaly, Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy OMIM:617713
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of the optic nerve, Hypopigmentati... ORPHA:79431
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Astrocytosis OMIM:172500
Waardenburg Syndrome Type 1
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopig... ORPHA:894
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Iris hypopigmentation, Broad-base... ORPHA:411515
Phace Association
Cerebellar hypoplasia, Optic nerve hypoplasia, Increased retinal vascularity, Dandy-Walker malfor... OMIM:606519
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Blindness, Albinism, Hypopigmentation of the skin, Freckles in sun-expo... OMIM:203300
2P15P16.1 Microdeletion Syndrome
Long eyelashes, Cerebellar hypoplasia, Supernumerary nipple, Optic nerve hypoplasia, Sparse eyebr... ORPHA:261349
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Abnormal hair morphology, Optic nerve hypoplasia, Hyperpigmented nevi OMIM:607597
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
Bresek Syndrome
Optic nerve hypoplasia, Aganglionic megacolon, Alopecia ORPHA:85284
Abetalipoproteinemia
Dysmetria, Color vision defect, Impaired proprioception, Impaired vibratory sensation, Nyctalopia... ORPHA:14
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Mulibrey Nanism
Pericardial constriction, Hepatomegaly, Pigmentary retinopathy, Cardiomegaly, Myocardial fibrosis OMIM:253250
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal best corrected visual acuity test, Visual loss, Cerebellar hypoplasia, Inability to walk... ORPHA:300570
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Reduced visual acuity, Visual i... OMIM:614072
Alpha-N-Acetylgalactosaminidase Deficiency
Blindness, Cardiomegaly, Cerebral cortical atrophy, Cerebellar hypoplasia ORPHA:3137
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Coarse hair, Patent foramen ovale, Sparse lateral eyebrow, Atrial septal defect, Optic nerve hypo... OMIM:617506
Mucopolysaccharidosis Type 3
Coarse hair, Blindness, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Pigme... ORPHA:581
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Dilated cardiomyopathy, Segmental peripheral demyelination... ORPHA:255210
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Optic nerve hypoplasia OMIM:614833
Mucopolysaccharidosis, Type Iiib
Coarse hair, Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Synophrys, Cardiomegaly, ... OMIM:252920
Developmental And Epileptic Encephalopathy 95
Cerebral atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Hypoplasia of the pons, Inabilit... OMIM:618143
Pancreatic And Cerebellar Agenesis
Cerebellar hypoplasia, Cerebellar agenesis, Optic nerve hypoplasia, Secundum atrial septal defect OMIM:609069
Fg Syndrome Type 1
Atrial septal defect, Optic nerve hypoplasia, Abnormal cerebellum morphology, Frontal upsweep of ... ORPHA:93932
Brittle Cornea Syndrome
Visual loss, High myopia, Retinal detachment, Pulmonic stenosis, Gait disturbance, Mitral valve p... ORPHA:90354
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Truncus arteriosus, Tetralogy of Fallot, Myopia, Atriov... ORPHA:508498
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots, Ataxia, Gait di... ORPHA:100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cerebellar dysplasia, Myopia, Blindness, Cerebellar hypoplasia, Optic nerve hypoplasia, Retinal d... OMIM:236670
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Abnormal cerebellum morphology, Ventricular septal de... OMIM:618652
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Long eyelashes, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Spar... ORPHA:495875
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Synophrys, Hepatomegaly, Long eyelashes OMIM:619064
Cantu Syndrome
Congenital hypertrophy of left ventricle, Long eyelashes, Congenital, generalized hypertrichosis,... OMIM:239850
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Optic nerve hypoplasia, Fine hair ORPHA:363686
Hec Syndrome
Abnormal pupil morphology, Developmental cataract, Cardiomyopathy, Endocardial fibroelastosis ORPHA:2119
Sandhoff Disease
Cherry red spot of the macula, Orthostatic hypotension, Hepatosplenomegaly, Blindness, Hepatomega... OMIM:268800
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormal corneal endothelium morphology, Chorioretinal atrophy, Posterior synechiae of the anteri... ORPHA:364055
Chédiak-Higashi Syndrome
Hypopigmentation of hair, Somatic sensory dysfunction, Hepatosplenomegaly, Atrophy of the spinal ... ORPHA:167
Septo-Optic Dysplasia Spectrum
Aplasia/Hypoplasia of the cerebellum, Septo-optic dysplasia, Optic nerve hypoplasia, Visual impai... ORPHA:3157
19P13.13 Microdeletion Syndrome
Long eyelashes, Optic nerve hypoplasia, Corpus callosum atrophy, Chiari type I malformation, Cafe... ORPHA:357001
Carney Complex, Type 1
Schwannoma, Cardiac myxoma, Pheochromocytoma, Profuse pigmented skin lesions, Multiple lentigines... OMIM:160980
Mogs-Cdg
Fair hair, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Long eyelashes, Atrial... ORPHA:79330
Microphthalmia, Isolated 8
Retinal detachment, Optic nerve hypoplasia OMIM:615113
Rhombencephalosynapsis
Septo-optic dysplasia, Abnormality of vision, Aganglionic megacolon, Ataxia, Fusion of the cerebe... ORPHA:59315
Septooptic Dysplasia
Optic nerve hypoplasia, Optic disc hypoplasia OMIM:182230
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar hypoplasia, Optic nerve hypoplasia, Optic disc pallor, Hypop... OMIM:300749
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Atrial septal defect, Biventricular hypertrophy, Abnormal mi... ORPHA:860
Phace Syndrome
Tetralogy of Fallot, Heterochromia iridis, Amblyopia, Cerebellar hypoplasia, Optic nerve hypoplas... ORPHA:42775
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Hydranencephaly
Blindness, Optic nerve hypoplasia, Dilatation of the ventricular cavity, Chorioretinal atrophy, C... ORPHA:2177
Hemochromatosis, Type 1
Splenomegaly, Hepatomegaly, Cardiomyopathy, Hyperpigmentation of the skin, Alopecia, Cardiomegaly OMIM:235200
Timothy Syndrome
Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale OMIM:601005
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormality of the optic nerve, Atrial septal defect, Impaired pain sensation, Supernumerary nipp... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormality of the optic nerve, Atrial septal defect, Impaired pain sensation, Supernumerary nipp... ORPHA:352665
Ermine Phenotype
Hypopigmentation of hair, Hypopigmented skin patches, Ocular albinism, Photophobia, Iris hypopigm... ORPHA:999
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Tubulointerstitial Nephritis And Uveitis Syndrome
Anterior chamber flare, Chorioretinal scar, Posterior uveitis, Cataract, Iris nevus, Intermediate... ORPHA:91500
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia OMIM:615033
Brittle Cornea Syndrome 1
Visual loss, Mitral valve prolapse, Red hair, Myopia OMIM:229200
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Optic nerve hypoplasia, Ataxia, Hyperpigmentation of the skin, Hypertrichosis, Positive Romberg s... ORPHA:221139
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Abnormality of the optic nerve, Long eyelashes, Myopia, Hypopigmentatio... ORPHA:79430
Chromosome 2P16.1-P15 Deletion Syndrome
Hypoplasia of the pons, Cerebral atrophy, Optic nerve hypoplasia OMIM:612513
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial necrosis, Cardiomegaly, Myocardia... OMIM:300257
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Atrial septal defect, Congenital, generalized hype... ORPHA:363705
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cerebellar hypoplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascul... OMIM:614643
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Myopia, Abnormality of vision, Athetosis, Ataxia, Dandy-Walker malforma... ORPHA:2719
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Inability to walk, Steppage ga... ORPHA:324410
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia ORPHA:1068
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Muscular subvalvular aortic stenosis, Decreased pyruvate carboxylase activity, Impaired proprioce... OMIM:302900
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Inability to walk, Tip-toe gait, Chorea, Right ventricular hypertrophy, Cardiomegaly, Brachial pl... ORPHA:268
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Optic atrophy OMIM:619052
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Astrocytosis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Gait d... ORPHA:309854
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic nerve hypoplasia, Cerebellar cortical atrophy, Generalized hypopigmentation, Alopecia, Reti... OMIM:619321
Waardenburg Syndrome
Premature graying of hair, Hypopigmentation of hair, Abnormality of skin pigmentation, Heterochro... ORPHA:3440
Facial Spasm
Anisocoria OMIM:134300
Naxos Disease
Dilated cardiomyopathy, Cardiomegaly, Woolly hair, Abnormal morphology of right ventricular trabe... OMIM:601214
Brachytelephalangic Chondrodysplasia Punctata
Atrial septal defect, Optic nerve hypoplasia, Ventricular septal defect, Optic disc hypoplasia ORPHA:79345
Carnitine Deficiency, Systemic Primary
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis OMIM:212140
Vici Syndrome
Dilated cardiomyopathy, Hypopigmentation of hair, Hypopigmentation of the fundus, Albinism, Hypop... OMIM:242840
Attrv122I Amyloidosis
Abnormality of enteric nervous system morphology, Cardiac amyloidosis, Hypertrophic cardiomyopath... ORPHA:85451
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Iris hypopigmentation, Gait imbal... ORPHA:411511
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly, Ataxia ORPHA:42
Fixed Subaortic Stenosis
Bacterial endocarditis, Pulmonic stenosis, Abnormal heart morphology, Ventricular septal defect, ... ORPHA:3092
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Splenomegaly, Hepatomegaly, Partial albinism... ORPHA:79477
Bohring-Opitz Syndrome
High myopia, Hypertrichosis, Inability to walk, Retinal atrophy, Dandy-Walker malformation, Synop... ORPHA:97297
Cantú Syndrome
Generalized hirsutism, Abnormal heart valve morphology, Long eyelashes, Thick eyebrow, Hypertroph... ORPHA:1517
Anisocoria
Anisocoria OMIM:106240
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Patent foramen ovale, Optic nerve hypoplasia, Double outlet right ventricl... OMIM:301043
Friedreich Ataxia And Congenital Glaucoma
Muscular subvalvular aortic stenosis, Decreased pyruvate carboxylase activity, Impaired vibratory... OMIM:229310
Friedreich Ataxia 2
Muscular subvalvular aortic stenosis, Decreased pyruvate carboxylase activity, Impaired vibratory... OMIM:601992
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal heart valve morphology, High hypermetropia, Myopia, Atrial septal defect, Optic nerve hy... ORPHA:536471
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal hypertroph... OMIM:115197
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Ataxia ORPHA:31
Lethal Acantholytic Erosive Disorder
Absent fingernail, Absent eyelashes, Absent toenail, Absent hair, Absent eyebrow, Cardiomyopathy,... ORPHA:158687
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Gait imbalance, Br... ORPHA:98795
Gaucher Disease, Type Iiic
Opacification of the corneal stroma, Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve ca... OMIM:231005
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal hair whorl, Cerebral visual impairment, Optic nerve hypoplasia, Olivopontocerebellar hyp... ORPHA:457284
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebral atrophy, Cerebellar atrophy, Cerebellar hypoplasia, Optic nerve hypoplasia, Optic disc p... ORPHA:468631
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Pontocerebellar atrophy, Inability to walk, Cardiomyopathy, Facial palsy ORPHA:258
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Pigmentary retinopathy, Cerebral cortical atrophy, R... OMIM:277400
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cerebellar hypoplasia, Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616897
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:600649
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Atrial septal defect, Bacterial endocarditis,... ORPHA:2041
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Hypoplastic toenails, Cerebellar hypoplasia, Dextrocardi... OMIM:306955
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Myopia, Atrial septal defect, Hypermetropia, Progressive visual loss, Broad lateral eyebrow, Opti... ORPHA:500150
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Iris hypopigmentation, Gait imbal... ORPHA:98794
Stromme Syndrome
Cerebellar hypoplasia, Optic nerve hypoplasia, Retinal vascular tortuosity, Cerebellar vermis hyp... OMIM:243605
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Decreased methylmalonyl-CoA mutase activity, Cerebral cortical atrophy OMIM:277410
Collagenoma, Familial Cutaneous
Right ventricular cardiomyopathy, Cardiomyopathy, Iris atrophy OMIM:115250
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Tetralogy of Fallot, Woolly hair, Atrial septal defect, S... ORPHA:84064
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Optic nerve aplasia, Ventricular septal defect OMIM:206900
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Iris t... ORPHA:67042
Microphthalmia, Syndromic 5
Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Craniosynostosis 4
Chiari type I malformation, Optic nerve hypoplasia OMIM:600775
Sickle Cell Anemia
Retinopathy, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:603903
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Symptomatic Form Of Hemochromatosis Type 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Hyperpigmentation of the skin, Cardiomyopathy, Generali... ORPHA:465508
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Atrial septal defect, Muscular ventricular septal... ORPHA:439
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology, Hypermetropia OMIM:114620
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Subcortical cerebral atrophy, Synophrys, Cardiomegaly, Hirsutism, Low posterior hairline ORPHA:2463
Fucosidosis
Cerebral atrophy, Thick eyebrow, Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:230000
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Hypermetropia, Atrial septal defect, Thick eyebrow, Amblyopia, Bicuspid aor... OMIM:245600
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Atrial septal defect, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Hypertri... OMIM:602782
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:163746
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Patent foramen ovale, Myopia, Atrial septal defect, Left ventricu... OMIM:300967
Proboscis Lateralis
Chorioretinal coloboma, Optic nerve hypoplasia, Optic disc coloboma, Ventricular septal defect, A... ORPHA:141099
Aniridia 1
Hypoplasia of the fovea, Optic nerve hypoplasia, Chorioretinal hypopigmentation, Macular agenesis... OMIM:106210
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... ORPHA:1457
Pseudo-Torch Syndrome 3
Cerebellar hypoplasia, Cardiomegaly OMIM:618886
Leigh Syndrome With Nephrotic Syndrome
Cerebral visual impairment, Cardiomegaly ORPHA:255249
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:201475
Fucosidosis
Cardiomegaly, Abnormality of the nail, Hepatomegaly ORPHA:349
Juvenile Glaucoma
Abnormal anterior chamber morphology, Abnormality iris morphology ORPHA:98977
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Abnormal cardiac a... ORPHA:1329
Cystinosis, Nephropathic
Retinopathy, Hypopigmentation of hair, Cerebral atrophy, Visual impairment, Blindness, Hypopigmen... OMIM:219800
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology ORPHA:250999
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Akinesia, Cardiomegaly OMIM:608013
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Hypoplastic toenails, Hepatomegaly, Cardiomegaly OMIM:608836
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Histiocytoid Cardiomyopathy
Cerebellar malformation, Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy ORPHA:137675
8Q24.3 Microdeletion Syndrome
Complete atrioventricular canal defect, Truncus arteriosus, Long eyelashes, Dysplastic aortic val... ORPHA:508488
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly, Brain atrophy, Visual im... OMIM:618278
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Left atrial e... ORPHA:57777
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular septal defect OMIM:614921
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly, Cerebellar vermis hyp... ORPHA:228308
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Splenomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:252500
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:261740
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Optic nerve hypoplasia, Abnormal cerebellum morphology ORPHA:226307
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly OMIM:251110
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly OMIM:251100
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Optic atrophy ORPHA:3301
Williams Syndrome
High hypermetropia, Hypoplastic toenails, Blue irides, Ventricular septal defect, Cardiomegaly, A... ORPHA:904
Singleton-Merten Syndrome 1
Aortic valve stenosis, Myopia, Subvalvular aortic stenosis, Onycholysis, Mitral valve calcificati... OMIM:182250
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve, Abnormality iris morphology ORPHA:91387
Glycogen Storage Disease Due To Acid Maltase Deficiency
Inability to walk, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hype... ORPHA:365
Oculodentodigital Dysplasia
Microcornea, Cataract, Ventricular septal defect, Abnormality iris morphology ORPHA:2710
Glycogen Storage Disease Ii
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Congenital Tracheomalacia
Tetralogy of Fallot, Atrial septal defect, Partial anomalous pulmonary venous return, Abnormal he... ORPHA:95430
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Truncus Arteriosus
Truncus arteriosus, Tetralogy of Fallot, Abnormal heart valve morphology, Atrial septal defect, P... ORPHA:3384
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia, Abnormality of secondary sexual hair ORPHA:95494
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Degeneration of the striatum, Hypertrophic cardiomyopathy, Cardiomegaly, Diff... ORPHA:51
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Patent foramen ovale, Atrial septal defect, Abnormal heart morphology, Trunc... ORPHA:980
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Hypoplastic fingernail, Cardiomegaly, Ventricular septal defect ORPHA:96191
Yunis-Varon Syndrome
Tetralogy of Fallot, Aplasia/Hypoplasia of the nails, Atrial septal defect, Cerebellar hypoplasia... ORPHA:3472
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Splenomegaly, Hepatomegaly, Hyperpigmentation of the skin, Sparse axil... OMIM:256040
Beckwith-Wiedemann Syndrome
Cardiomegaly, Enlarged kidney, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Viscerome... ORPHA:116
Holoprosencephaly 9
Optic nerve hypoplasia OMIM:610829
Pituitary Stalk Interruption Syndrome
Septo-optic dysplasia ORPHA:95496
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, ... ORPHA:1677
Congenital Total Pulmonary Venous Return Anomaly
Atrial septal defect, Supracardiac total anomalous pulmonary venous connection, Mixed total anoma... ORPHA:99125
Beckwith-Wiedemann Syndrome
Enlarged kidney, Pancreatic hyperplasia, Hepatomegaly, Dandy-Walker malformation, Cardiomyopathy,... OMIM:130650
Generalized Arterial Calcification Of Infancy
Abnormal retinal artery morphology, Myocardial calcification, Retinal hemorrhage, Choroidal neova... ORPHA:51608
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Myocardial calcification, Splenomegaly, Hepatomegaly, Restrictive cardi... ORPHA:75565
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280

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 Taco1

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 Taco1.

No publications found that use IMPC mice or data for Taco1.

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MGI Allele Allele Type Produced
Taco1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Taco1em1(IMPC)J Exon Deletion Mice
Taco1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Taco1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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