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Gene: Taco1 MGI:1917457

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating triglyceride level Taco1em1(IMPC)J HOM Late adult 6.44×10-08
abnormal skin morphology Taco1em1(IMPC)J HOM Early adult 1.57×10-05
increased grip strength Taco1em1(IMPC)J HET   Late adult 2.49×10-05
increased heart weight Taco1em1(IMPC)J HOM Early adult 3.15×10-05
iris synechia Taco1em1(IMPC)J HOM   Early adult 8.31×10-05
decreased circulating alanine transaminase level Taco1em1(IMPC)J HOM Late adult 1.04×10-05
preweaning lethality, incomplete penetrance Taco1em1(IMPC)J HOM   Early adult 0.00
decreased circulating creatinine level Taco1em1(IMPC)J HOM Late adult 5.16×10-07

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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 Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

27 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

5 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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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.

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
Ventricular septal defect, Optic atrophy, Hypertrichosis, Hypertrophic cardiomyopathy, Progressiv... 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
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Cerebral cortical atrophy, Subcortical cerebral atrophy, Optic atro... ORPHA:33445
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise ORPHA:206599
Iridocorneal Endothelial Syndrome
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Ethanolaminosis
Cardiomegaly OMIM:227150
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Hypopigmentation of the fundus,... OMIM:606952
Anterior Segment Dysgenesis 5
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... OMIM:604229
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Albinism, Oculocutaneous, Type Iv
Albinism, Macular hypoplasia, Hypopigmentation of hair, Hypopigmentation of the fundus, Blue irid... OMIM:606574
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Bornholm Eye Disease
Deuteranopia, Amblyopia, Protanopia, Abnormality of retinal pigmentation, Optic nerve hypoplasia,... OMIM:300843
Cognitive Impairment With Or Without Cerebellar Ataxia
Gait ataxia, Amblyopia, Ataxia, Optic nerve hypoplasia, Dysmetria, Cerebellar atrophy OMIM:614306
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Iris transillumination defect, Photophobia, Hypopigmentation of hai... OMIM:619165
Weill-Marchesani Syndrome 4
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... OMIM:613195
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Trichothiodystrophy 5, Nonphotosensitive
Gait ataxia, Sparse eyebrow, Global brain atrophy, Tiger tail banding, Brittle hair, Cerebellar h... OMIM:300953
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... OMIM:300539
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, White eyebrow, Accumulation of melanosomes in mela... OMIM:214450
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait ataxia, Diplopia, Optic atrophy, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Dyse... OMIM:619259
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Abnormal retinal morphology, Albinism, Hypopigmentation of hair, Vi... ORPHA:2786
Optic Atrophy 11
Gait apraxia, Amblyopia, Brain atrophy, Optic atrophy, Cerebellar hypoplasia, Ataxia, Optic nerve... OMIM:617302
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Blindness, Cerebellar hypoplasia, Myopia, Cerebellar cyst, Optic nerve hypo... OMIM:615181
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis OMIM:251750
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Basal ganglia gliosis, Optic atrophy, Choreoathetosis, Gait disturbance, Atrophy/Deg... ORPHA:225154
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Cardiofaciocutaneous Syndrome 4
Curly hair, Cafe-au-lait spot, Cerebellar hypoplasia, Abnormal aortic valve morphology, Multiple ... OMIM:615280
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... OMIM:601631
X-Linked Intellectual Disability, Najm Type
Cerebral cortical atrophy, Optic atrophy, Cerebellar hypoplasia, Gait disturbance, Optic nerve hy... ORPHA:163937
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Gait ataxia, Optic atrophy, Spastic gait, Optic nerve hypoplasia, Hypertrophic cardiomyopathy, Pe... ORPHA:496790
Friedreich Ataxia
Gait ataxia, Optic atrophy, Visual field defect, Decreased pyruvate carboxylase activity, Decreas... OMIM:229300
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buphthalmos, Iris ... OMIM:221900
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Atria... OMIM:602482
Isolated Optic Nerve Hypoplasia/Aplasia
Pseudopapilledema, Abnormal best corrected visual acuity test, Optic disc hypoplasia, Optic nerve... ORPHA:137902
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Abnormal heart morphology, Persistent ... ORPHA:1067
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation o... OMIM:126070
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Abnormal macular morphology, Synophrys, W... ORPHA:897
Woolly Hair
Sparse body hair, Abnormal retinal morphology, Sparse lateral eyebrow, Brittle hair, Fine hair, W... ORPHA:170
Congenital Muscular Dystrophy With Cerebellar Involvement
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Blindness, Abnormal cerebellum mo... ORPHA:370959
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Decreased serum creatinine, Hypocystinemia OMIM:617744
Inherited Creutzfeldt-Jakob Disease
Gait ataxia, Chorea, Global brain atrophy, Vestibular nystagmus, Abnormal autonomic nervous syste... ORPHA:282166
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro... ORPHA:79435
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Sparse scalp hair, Small nail, Brittle scalp hair, Sparse axillary hair... ORPHA:189
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Visual impairment, As... ORPHA:204
Hsd10 Disease, Infantile Type
Rod-cone dystrophy, Blindness, Frontotemporal cerebral atrophy, Optic atrophy, Retinal degenerati... ORPHA:391428
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Oculocutaneous Albinism Type 1
Amblyopia, Generalized hypopigmentation of hair, Depigmented fundus, Reduced visual acuity, White... ORPHA:352731
Charcot-Marie-Tooth Disease Type 1F
Gait ataxia, Somatic sensory dysfunction, Paresthesia, Inability to walk, Absent brainstem audito... ORPHA:101085
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, White e... ORPHA:42665
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... OMIM:607624
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Oculoauricular Syndrome
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... OMIM:612109
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Refsum Disease, Classic
Somatic sensory dysfunction, Rod-cone dystrophy, Retinal degeneration, Ataxia, Cardiomegaly, Nyct... OMIM:266500
Phacoanaphylactic Uveitis
Corneal keratic precipitates, Abnormal pupil morphology, Posterior synechiae of the anterior cham... ORPHA:209959
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nuclear cataract ORPHA:280914
Optic Atrophy-Intellectual Disability Syndrome
Cerebral visual impairment, Amblyopia, Optic atrophy, Reduced visual acuity, Visual field defect,... ORPHA:401777
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... OMIM:614195
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Congenital Toxoplasmosis
Visual impairment, Cardiomegaly, Abnormality of retinal pigmentation, Hepatomegaly ORPHA:858
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Aganglionic megacolon, Ataxia, Hypopigm... ORPHA:2885
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Neuronal loss in central nervous system, Astrocytosis, Cerebral cortical atrophy, Gait disturbance OMIM:600795
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Bicuspid aortic valve, Cerebral visual impairment, Optic nerve ... OMIM:618156
Oculocutaneous Albinism Type 1B
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Cerebral Visual Impairment
Optic atrophy, Visual field defect, Optic nerve hypoplasia, Central nervous system degeneration, ... ORPHA:447788
5Q14.3 Microdeletion Syndrome
Frontal cortical atrophy, Thick eyebrow, Agenesis of cerebellar vermis, Optic nerve hypoplasia ORPHA:228384
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis, Aplasia/Hypoplasia of the optic nerve, Op... ORPHA:137634
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Optic Nerve Hypoplasia, Bilateral
Morning glory anomaly, Optic nerve aplasia, Optic nerve hypoplasia, Remnants of the hyaloid vascu... OMIM:165550
Tatton-Brown-Rahman Syndrome
Horizontal eyebrow, Ventricular septal defect, Atrial septal defect, Optic nerve hypoplasia, Chia... OMIM:615879
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect OMIM:619170
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, Reduced visual acuity, White eyelash... ORPHA:79432
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis, Inability to walk, Difficulty walking, Atrial septal defect OMIM:611087
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea ORPHA:3214
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Cafe-au-lait spot, Ventricular septal defect, Chiari malformation, Atrial s... OMIM:609053
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology, Vitreous floaters, Cardiomegaly, Cardiomyopathy ORPHA:85447
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hai... OMIM:256710
Idiopathic Panuveitis
Posterior synechiae of the anterior chamber, Cataract, Choroidal neovascularization, Conjunctival... ORPHA:280921
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Horizontal eyebrow, Synophrys, Long eyelashes, Optic nerve hypoplasia, Thick eyebrow, Hypertricho... OMIM:618381
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... OMIM:105210
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Dandy-Walker malformation, Low anterior hairline, Optic nerve hypoplasia OMIM:618736
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Intermediate Uveitis
Posterior synechiae of the anterior chamber, Cataract, Band keratopathy, Anterior uveitis ORPHA:279914
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Chorea, Inability to walk, Ataxia, Hypopigmentation of hair, Hypertrophic cardiomyopathy, Abnorma... ORPHA:70472
Distal Monosomy 6P
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Atrial... ORPHA:96125
Infantile Sialic Acid Storage Disease
Hypopigmentation of the skin, Fair hair, Hepatomegaly, Cerebral atrophy, Cardiomegaly, Splenomegaly OMIM:269920
Chromosome 19P13.13 Deletion Syndrome
Chiari type I malformation, Optic atrophy, Optic nerve hypoplasia OMIM:613638
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Global brain atrophy, Small nail, Ventricular septal defect, Cereb... OMIM:301056
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cerebral visual impairment, Truncal ataxia, Limb ataxia, Visual loss, Hy... OMIM:619051
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Reduced visu... ORPHA:55
Neuraminidase Deficiency
Progressive visual loss, Dysmetria, Hepatomegaly, Cardiomegaly, Splenomegaly, Cherry red spot of ... OMIM:256550
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
White-Sutton Syndrome
Patent foramen ovale, Rod-cone dystrophy, Mild myopia, Atrial septal defect, Optic nerve hypoplas... OMIM:616364
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Optic nerve hypoplasia OMIM:218670
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Optic atrophy, Hypertrichosis, Hypertrophic cardiomyopathy, Progressiv... ORPHA:255241
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Craniotelencephalic Dysplasia
Visual impairment, Cerebellar hypoplasia, Optic atrophy, Septo-optic dysplasia ORPHA:1528
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Sparse hair OMIM:613576
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Gait disturbance, Frontotemporal cerebral atrophy ORPHA:275864
Combined Oxidative Phosphorylation Deficiency 33
Amblyopia, Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:617713
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Albinism, Photophobia, Hypopigmentation of hair, Hypoplasia of the fovea, White ... OMIM:203100
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Dilated cardiomyopathy, Optic nerve hypoplasia, Abnormal hair pattern,... ORPHA:261250
Cockayne Syndrome Type 3
Dry hair, Retinal hemorrhage, Abnormality of peripheral nerve conduction, Dense calcifications in... ORPHA:90324
Chediak-Higashi Syndrome
Giant melanosomes in melanocytes, Hypopigmentation of the skin, Ocular albinism, Macular hypoplas... OMIM:214500
Waardenburg Syndrome Type 1
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Aganglionic megacolon, Hypo... ORPHA:894
Oculocutaneous Albinism Type 1A
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... ORPHA:79431
Nabais Sa-De Vries Syndrome, Type 1
Synophrys, Long eyelashes, Optic nerve hypoplasia, Highly arched eyebrow, Low anterior hairline OMIM:618828
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Cerebellar hypoplasia, Optic nerve hypoplasia ORPHA:65288
Piebaldism
Piebaldism, Synophrys, White eyelashes, White eyebrow, Aganglionic megacolon, Ataxia, Hypopigment... ORPHA:2884
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Aplasia/Hypoplasia of the cerebellum, Cerebral visual impairment, Optic nerve hypoplasia ORPHA:572013
Waardenburg Syndrome Type 2
Premature graying of hair, Aganglionic megacolon, Hypopigmented skin patches, White forelock, Hyp... ORPHA:895
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chambe... OMIM:601552
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Pterygium, Ventricular septal hypertrophy, Hypertrophic c... OMIM:618052
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Iris hypopigmentation, Ataxia, Hypopigmentation of hair, Broad-base... ORPHA:411515
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Blindness, Melanocytic nevus, Ocular albinism, Albinism, Freckles i... OMIM:203300
2P15P16.1 Microdeletion Syndrome
Sparse eyebrow, Optic atrophy, Cerebellar hypoplasia, Long eyelashes, Supernumerary nipple, Fine ... ORPHA:261349
Mulibrey Nanism
Pericardial constriction, Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pigmentary retinopathy OMIM:253250
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Visual impairment, Reduced visu... OMIM:614072
Abetalipoproteinemia
Gait ataxia, Progressive visual loss, Rod-cone dystrophy, Cardiomegaly, Blindness, Scotoma, Abnor... ORPHA:14
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Hyperpigmented nevi, Abnormal hair morphology, Optic nerve hypoplasia OMIM:607597
Phace Association
Horner syndrome, Ventricular septal defect, Optic atrophy, Cerebellar hypoplasia, Optic nerve hyp... OMIM:606519
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High anterior hairline, Patent foramen ovale, Curly hair, Sparse lateral eyebrow, Ventricular sep... OMIM:617506
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Chorea, Cerebral cortical atrophy, Inability to walk, Optic nerve hypoplasia OMIM:617864
Bresek Syndrome
Alopecia, Aganglionic megacolon, Optic nerve hypoplasia ORPHA:85284
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Inability to walk, Cerebellar hypoplasia, Abnormal best corrected visual acuity t... ORPHA:300570
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Cerebral cortical atrophy, Blindness, Cerebellar hypoplasia ORPHA:3137
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Optic nerve hypopl... ORPHA:171680
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair, Hepatomegaly, Cerebell... OMIM:618541
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Optic atrophy OMIM:614702
Brittle Cornea Syndrome
Abnormality of hair pigmentation, Mitral valve prolapse, Gait disturbance, Visual loss, Retinal d... ORPHA:90354
Supranuclear Palsy, Progressive, 1
Granulovacuolar degeneration, Diplopia, Falls, Akinesia, Gait imbalance, Blurred vision, Neuronal... OMIM:601104
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei... OMIM:613095
Mucopolysaccharidosis Type 3
Optic atrophy, Synophrys, Hirsutism, Hepatomegaly, Coarse hair, Splenomegaly, Nyctalopia, Thick h... ORPHA:581
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... OMIM:620135
Developmental And Epileptic Encephalopathy 95
Cerebral visual impairment, Cerebral cortical atrophy, Cerebellar vermis atrophy, Inability to wa... OMIM:618143
Fg Syndrome Type 1
Abnormal cerebellum morphology, Frontal upsweep of hair, Mitral valve prolapse, Atrial septal def... ORPHA:93932
Mucopolysaccharidosis, Type Iiib
Synophrys, Asymmetric septal hypertrophy, Hirsutism, Hepatomegaly, Coarse hair, Cardiomegaly, Spl... OMIM:252920
Microphthalmia, Isolated 8
Retinal detachment, Retinal coloboma, Hypoplastic optic chiasm, Optic nerve hypoplasia OMIM:615113
Ataxia-Telangiectasia
Premature graying of hair, Gait disturbance, Ataxia, Hypopigmentation of hair, Multiple cafe-au-l... ORPHA:100
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Global brain atrophy, Cerebral visual impairment, Partial atrioventricular canal defect, Ventricu... OMIM:620066
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Decreased serum creatinine, Hypotriglyceridemia OMIM:618885
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Abnormal cerebellum morphology, Atrial septal de... OMIM:618652
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Optic nerve hypoplasia OMIM:614833
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Synophrys, Cardiomegaly, Long eyelashes, Hepatomegaly OMIM:619064
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Sandhoff Disease
Blindness, Ataxia, Hepatosplenomegaly, Impaired temperature sensation, Hepatomegaly, Orthostatic ... OMIM:268800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cerebellar dysplasia, Blindness, Optic atrophy, Cerebellar hypoplasia, Retinal atrophy, Myopia, C... OMIM:236670
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Atrioventricular canal defect, Amblyopia, Truncus arteriosus, Ventricular septal defect, Retinal ... ORPHA:508498
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Posterior synechiae of the anterior chamber, Developmental cataract OMIM:613154
Hec Syndrome
Abnormal pupil morphology, Cardiomyopathy, Developmental cataract, Endocardial fibroelastosis ORPHA:2119
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair, Optic nerve hypoplasia ORPHA:363686
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Chorioretinal atroph... ORPHA:364055
Mogs-Cdg
Alopecia, Optic atrophy, Fair hair, Absent brainstem auditory responses, Long eyelashes, Left ven... ORPHA:79330
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Bicuspid aortic valve, Long eyela... OMIM:239850
Septo-Optic Dysplasia Spectrum
Aplasia/Hypoplasia of the cerebellum, Visual impairment, Septo-optic dysplasia, Optic nerve hypop... ORPHA:3157
Chédiak-Higashi Syndrome
Somatic sensory dysfunction, Hypopigmentation of the skin, Brain atrophy, Inability to walk, Redu... ORPHA:167
19P13.13 Microdeletion Syndrome
Cafe-au-lait spot, Optic atrophy, Long eyelashes, Optic nerve hypoplasia, Chiari type I malformat... ORPHA:357001
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Sparse eyebrow, Cerebellar hypoplasia, Synophrys, Broad eyebrow, Long eyelashes, Dandy-Walker mal... ORPHA:495875
Hydranencephaly
Dilatation of the ventricular cavity, Blindness, Cerebral cortical atrophy, Optic nerve hypoplasi... ORPHA:2177
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Carney Complex, Type 1
Profuse pigmented skin lesions, Multiple lentigines, Pheochromocytoma, Schwannoma, Freckling, Car... OMIM:160980
Microcephaly 20, Primary, Autosomal Recessive
Cerebellar hypoplasia, Blindness, Optic nerve hypoplasia OMIM:617914
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Abnormal dentate nucleus morphology, Septo-optic dysplasia,... ORPHA:59315
Chromosome 2P16.1-P15 Deletion Syndrome
Hypoplasia of the pons, Cerebral atrophy, Visual impairment, Optic nerve hypoplasia OMIM:612513
Mitochondrial Dna-Associated Leigh Syndrome
Gait ataxia, Chorea, Abnormality of Krebs cycle metabolism, Rod-cone dystrophy, Optic atrophy, Di... ORPHA:255210
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Congenitally Uncorrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... ORPHA:860
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Timothy Syndrome
Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect OMIM:601005
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar hypoplasia, Optic nerve hypoplasia, Hypoplasia of the pons, ... OMIM:300749
Rhizomelic Chondrodysplasia Punctata, Type 2
Tetralogy of Fallot, Optic nerve hypoplasia OMIM:222765
Marshall-Smith Syndrome
Melanocytic nevus, Ventricular septal defect, Brittle hair, Dysplastic aortic valve, Synophrys, C... OMIM:602535
Phace Syndrome
Retinal vascular malformation, Amblyopia, Abnormal cardiac septum morphology, Cerebellar hypoplas... ORPHA:42775
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma free carnitine, Elevated circulating long chain fatty... OMIM:608836
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Iris hypopigmentation, Astigmatism, Ocular albinism ORPHA:54
Hemochromatosis, Type 1
Alopecia, Hyperpigmentation of the skin, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:235200
Brittle Cornea Syndrome 1
Myopia, Red hair, Mitral valve prolapse, Visual loss OMIM:229200
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... ORPHA:999
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Hermansky-Pudlak Syndrome
Hypopigmentation of the skin, Amblyopia, Melanocytic nevus, Ocular albinism, Iris hypopigmentatio... ORPHA:79430
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Inability to walk, Bicuspid aortic valve, Myopia, Supernumerary nipple... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Inability to walk, Bicuspid aortic valve, Myopia, Supernumerary nipple... ORPHA:352665
Oculocerebral Hypopigmentation Syndrome, Cross Type
Choroideremia, Ocular albinism, Iris hypopigmentation, Ataxia, Hypopigmentation of hair, Myopia, ... ORPHA:2719
Tubulointerstitial Nephritis And Uveitis Syndrome
Anterior chamber flare, Posterior synechiae of the anterior chamber, Choroidal neovascularization... ORPHA:91500
Craniofaciofrontodigital Syndrome
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Abnormal heart valve morp... ORPHA:363705
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Inability to walk, Abnormal atrioventricular valve morphology, Mitral valve prolaps... ORPHA:324410
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Positive Romberg sign, Optic nerve hypoplasia, Ataxia, Low posterior hairline, Hyperpigmentation ... ORPHA:221139
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Truncal ataxia, Gait disturbance, Hypertrophic cardiomyopathy, Difficulty wal... ORPHA:309854
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Chorea, Tip-toe gait, Inability to walk, Brachial plexus neuropathy, Cardiomegaly, Right ventricu... ORPHA:268
Naxos Disease
Sparse body hair, Sparse eyebrow, Curly hair, Right ventricular cardiomyopathy, Abnormal morpholo... OMIM:601214
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Abnormal autonomic nervous system physiology, Abnormality of enteric ... ORPHA:85451
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Optic atrophy OMIM:619052
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cerebellar hypoplasia, Optic nerve hypoplasia, Retinal dysplasia, Remnants of the hyaloid vascula... OMIM:614643
Waardenburg Syndrome
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr... ORPHA:3440
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebral visual impairment, Ataxia, Visual loss, Neuronal loss in central nervous system, Cerebel... OMIM:203700
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Gait imbalance, Iris hypopigmentation, Ataxia, Hypopigmentation of ... ORPHA:411511
Fixed Subaortic Stenosis
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... ORPHA:3092
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia ORPHA:1068
Pancreatic And Cerebellar Agenesis
Cerebellar hypoplasia, Secundum atrial septal defect, Optic nerve hypoplasia, Cerebellar agenesis... OMIM:609069
D-Glyceric Aciduria
Cerebral cortical atrophy, Optic nerve hypoplasia OMIM:220120
Facial Spasm
Anisocoria OMIM:134300
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Cerebellar cortical atrophy, Optic atrophy, Generalized hypopigmentation, Retinal dystr... OMIM:619321
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Familial Atrial Myxoma
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma ORPHA:615
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Ataxia, Hepatomegaly ORPHA:42
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Griscelli Syndrome Type 2
Premature graying of hair, Iris hypopigmentation, Hypopigmentation of hair, Hepatomegaly, Partial... ORPHA:79477
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Ventricular septal defect, Atrial septal defect, Optic nerve hypoplasia ORPHA:79345
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:212140
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia OMIM:615033
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Gait imbalance, Iris hypopigmentation, Hypopigmentation of hair, Br... ORPHA:98795
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Optic atrophy, Retinal atrophy, Synophrys, Inability to walk,... ORPHA:97297
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Abnormal lower motor neuron morphology, Astrocytosis, Temporal c... ORPHA:100070
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Spondylodysplastic Ehlers-Danlos Syndrome
High hypermetropia, Sparse scalp hair, Abnormal heart valve morphology, Atrial septal defect, Opt... ORPHA:536471
Cantú Syndrome
Long eyelashes, Hypertrophic cardiomyopathy, Low posterior hairline, Curly eyelashes, Cardiomegal... ORPHA:1517
Lethal Acantholytic Erosive Disorder
Absent hair, Cardiomegaly, Absent eyelashes, Absent toenail, Absent fingernail, Absent eyebrow, C... ORPHA:158687
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Facial palsy, Pontocerebellar atrophy, Astrocytosis, Cardiomyopathy ORPHA:258
Acromelic Frontonasal Dysostosis
Retrocerebellar cyst, Onychogryposis, Optic nerve hypoplasia, Remnants of the hyaloid vascular sy... OMIM:603671
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hypocalcemia, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Right atrial isomerism,... OMIM:306955
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect, Cerebellar hypoplasia OMIM:616897
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Elevated circulating creatinine concentra... ORPHA:85450
Coronary Arterial Fistula
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... ORPHA:2041
Holoprosencephaly 13, X-Linked
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Septo-optic dyspl... OMIM:301043
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Opacification of the corneal stroma, Hepatomegaly, Cardiomegaly, A... OMIM:231005
Juvenile Nephropathic Cystinosis
Aminoaciduria, Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circula... ORPHA:411634
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... OMIM:115197
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Vici Syndrome
Hypopigmentation of the skin, Ocular albinism, Albinism, Macular hypoplasia, Macular atrophy, Lef... OMIM:242840
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Cerebral visual impairment, Olivopontocerebellar hypoplasia, Abnormal hair whorl, Optic nerve hyp... ORPHA:457284
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar hypoplasia, Attenuation of retinal blood vessels, Optic nerve hypoplasia, Hypoplasia o... ORPHA:468631
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Stromme Syndrome
Retinal vascular tortuosity, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Optic nerve hyp... OMIM:243605
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sparse eyebrow, Progressive visual loss, Curly hair, Cerebral visual impairment, Global brain atr... ORPHA:500150
Syndromic Diarrhea
Trichorrhexis nodosa, Ventricular septal defect, Generalized hypopigmentation, Brittle hair, Cafe... ORPHA:84064
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Sparse scalp hair, Optic nerve hypoplasia OMIM:620029
Fucosidosis
Spastic gait, Hepatomegaly, Cerebral atrophy, Cardiomegaly, Thick eyebrow, Splenomegaly OMIM:230000
Collagenoma, Familial Cutaneous
Right ventricular cardiomyopathy, Iris atrophy, Cardiomyopathy OMIM:115250
Cerebrooculonasal Syndrome
Sparse eyebrow, Optic nerve hypoplasia, Sparse eyelashes, Dandy-Walker malformation, Cerebellar v... OMIM:605627
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Global brain atrophy, Ventricular septal defect, Truncus arteriosu... ORPHA:508488
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... ORPHA:439
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Iris t... ORPHA:67042
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Amblyopia, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular h... OMIM:245600
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Microphthalmia, Syndromic 3
Optic nerve aplasia, Ventricular septal defect, Optic nerve hypoplasia OMIM:206900
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:49041
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Ataxia ORPHA:31
Microphthalmia, Syndromic 5
Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Symptomatic Form Of Hemochromatosis Type 1
Generalized bronze hyperpigmentation, Hyperpigmentation of the skin, Hepatomegaly, Cardiomegaly, ... ORPHA:465508
Danon Disease
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Vi... OMIM:300257
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cerebral cortical atrophy, Decreased methylmalonyl-CoA mutase activity, Visual impairment, Reduce... OMIM:277400
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly, Cerebral visual impairment ORPHA:255249
Craniosynostosis 4
Chiari type I malformation, Optic nerve hypoplasia OMIM:600775
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse, Atrial septal defect, Hepato... OMIM:602782
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Subcortical cerebral atrophy, Synophrys, Hirsutism, Low posterior hairline, Cardiomegaly ORPHA:2463
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Premature graying of hair, Aganglionic megacolon, Ataxia, Hypopigmen... ORPHA:163746
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Pseudo-Torch Syndrome 3
Cardiomegaly, Cerebellar hypoplasia OMIM:618886
Sickle Cell Disease
Cardiomegaly, Retinopathy, Splenomegaly, Hepatomegaly OMIM:603903
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo... ORPHA:90038
Friedreich Ataxia 2
Abnormality of peripheral nerve conduction, Concentric hypertrophic cardiomyopathy, Decreased pyr... OMIM:601992
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:201475
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Cerebellar hypoplasia, Atrial septal defect, Ata... OMIM:300967
Proboscis Lateralis
Abnormal location of the eyebrow, Abnormal eyebrow morphology, Ventricular septal defect, Optic n... ORPHA:141099
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Aniridia 1
Retinal vascular tortuosity, Optic nerve hypoplasia, Hypoplasia of the fovea, Macular agenesis, C... OMIM:106210
Aorta Coarctation
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... ORPHA:1457
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity, Cerebral cortical atrophy, Spastic ataxia OMIM:277410
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Hypopigmentation of the skin, Cerebral cortical atrophy, Tip-toe gait, Brittle ha... OMIM:252500
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Aortopulmonary window, Hepatomegaly, Optic nerve hypoplasia OMIM:620025
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Juvenile Glaucoma
Abnormal anterior chamber morphology, Abnormality iris morphology ORPHA:98977
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology ORPHA:250999
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Fucosidosis
Cardiomegaly, Hepatomegaly, Abnormality of the nail ORPHA:349
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... ORPHA:1329
Gaucher Disease, Perinatal Lethal
Akinesia, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Cystinosis, Nephropathic
Splenomegaly, Retinopathy, Blindness, Hypopigmentation of the skin, Reduced visual acuity, Retina... OMIM:219800
Histiocytoid Cardiomyopathy
Ventricular septal defect, Optic atrophy, Cerebellar malformation, Hepatomegaly, Cardiomegaly ORPHA:137675
Baller-Gerold Syndrome
Chiari malformation, Optic atrophy, Optic nerve hypoplasia, Abnormal heart morphology, Myopia, Hi... OMIM:218600
Cirrhotic Cardiomyopathy
Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiomegaly, Right atrial e... ORPHA:57777
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Marburg Hemorrhagic Fever
Hypokalemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Elevated circula... ORPHA:99826
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Ventricular septal defect, Hepatomegaly, Dilated cardiomyopathy OMIM:614921
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cerebellar vermis hyp... ORPHA:228308
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Brain atrophy, Hepatosplenomegaly, Hepatomegaly, Visual impairment, Card... OMIM:618278
Glycogen Storage Disease Ii
Difficulty walking, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia ORPHA:340
Oculodentodigital Dysplasia
Cataract, Ventricular septal defect, Microcornea, Abnormality iris morphology ORPHA:2710
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Glycogen Storage Disease Due To Acid Maltase Deficiency
Motor axonal neuropathy, Inability to walk, Left ventricular hypertrophy, Hypertrophic cardiomyop... ORPHA:365
Ogden Syndrome
Sparse eyebrow, Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septa... OMIM:300855
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly ORPHA:308552
Glycogen Storage Disease Of Heart, Lethal Congenital
Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... OMIM:261740
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve, Abnormality iris morphology ORPHA:91387
Congenital Tracheomalacia
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... ORPHA:95430
Williams Syndrome
Cerebral cortical atrophy, Chiari malformation, Abnormal cardiac septum morphology, Retinal arter... ORPHA:904
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Abnormal cerebellum morphology, Optic nerve hypoplasia ORPHA:226307
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... ORPHA:99829
Aicardi-Goutières Syndrome
Brain atrophy, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Difficulty walking, Cardiomegaly,... ORPHA:51
Truncus Arteriosus
Truncus arteriosus, Ventricular septal defect, Transposition of the great arteries, Pulmonic sten... ORPHA:3384
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... ORPHA:980
Yunis-Varon Syndrome
Sparse eyebrow, Sparse scalp hair, Cardiomegaly, Ventricular septal defect, Aplasia/Hypoplasia of... ORPHA:3472
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... ORPHA:449395
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormality of secondary sexual hair, Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:95494
Paternal Uniparental Disomy Of Chromosome 6
Hypoplastic fingernail, Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:96191
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, High anterior hairline, Myopia, Onycholysis, Aortic valve stenosis, ... OMIM:182250
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... OMIM:619534
Beckwith-Wiedemann Syndrome
Melanocytic nevus, Chiari malformation, Choroideremia, Enlarged kidney, Hypertrophic cardiomyopat... ORPHA:116
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Sparse axillary hair, Hyperpigmentation of the skin, Hypertrichosis, H... OMIM:256040
Holoprosencephaly 9
Optic nerve hypoplasia OMIM:610829
Familial Idiopathic Dilatation Of The Right Atrium
Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... ORPHA:1677
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Dry hair, Patent foramen ovale, Dilatation of the ventricular cavity... OMIM:619991
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... ORPHA:99125
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Enlarged kidney, Hepatomegaly, Cardiomegaly, Dandy-Walker malformation, C... OMIM:130650
Generalized Arterial Calcification Of Infancy
Retinal hemorrhage, Ventricular hypertrophy, Angioid streaks of the fundus, Abnormal retinal arte... ORPHA:51608
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... 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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