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Gene: Taco1 MGI:1917457

Gene Summary

Name:

translational activator of mitochondrially encoded cytochrome c oxidase I

Synonyms:

Ccdc44, 2310066I18Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
iris synechia	Taco1^em1(IMPC)J	HOM	Early adult	8.27×10^-05
decreased circulating alanine transaminase level	Taco1^em1(IMPC)J	HOM	Late adult	5.79×10^-05
increased heart weight	Taco1^em1(IMPC)J	HOM	Early adult	2.77×10^-05
preweaning lethality, incomplete penetrance	Taco1^em1(IMPC)J	HOM	Early adult	0.00
decreased circulating triglyceride level	Taco1^em1(IMPC)J	HOM	Late adult	2.23×10^-08
abnormal skin morphology	Taco1^em1(IMPC)J	HOM	Early adult	1.56×10^-05
increased grip strength	Taco1^em1(IMPC)J	HET	Late adult	2.84×10^-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

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Auditory Brain Stem Response

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

8 Images

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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.

Human diseases associated with Taco1 (2 diseases)
Human diseases predicted to be associated with Taco1 (314 diseases)

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	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
Taco1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Taco1^em1(IMPC)J	Exon Deletion	Mice
Taco1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Taco1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

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Gene: Taco1 MGI:1917457

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Electrocardiogram (ECG)

Eye Morphology

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X-ray

Auditory Brain Stem Response

Human diseases caused by Taco1 mutations

Histopathology

IMPC related publications

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Access Data Release 17.0 Data