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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

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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 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
abnormal skin morphology Taco1em1(IMPC)J HOM Early adult 1.57×10-05
decreased circulating triglyceride level Taco1em1(IMPC)J HOM Late adult 6.44×10-08
increased grip strength Taco1em1(IMPC)J HET   Late adult 2.60×10-05
increased heart weight Taco1em1(IMPC)J HOM Early adult 2.85×10-05

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

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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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 Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Forepaw

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 Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

27 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
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy, Spastic gait OMIM:619052

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Neuroectodermal Melanolysosomal Disease
Myopia, Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Optic atrophy, Premature... ORPHA:33445
Ethanolaminosis
Cardiomegaly OMIM:227150
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Photophobia, Visual impairment, Hypopigmentation of the skin,... OMIM:606952
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Visual impairment, Hypopigme... OMIM:606574
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia, Deuteranopia, Amblyopia, High myopia... OMIM:300843
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Ataxia, Optic nerve hypoplasia, Amblyopia, Dysmetria, Gait ataxia OMIM:614306
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Hypopigmentation of hair, Reduced visual acuity, Photophobia, Iris trans... OMIM:619165
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Myopia, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinis... OMIM:203200
Trichothiodystrophy 5, Nonphotosensitive
Broad-based gait, Brittle hair, Slow-growing hair, Retinal dystrophy, Optic nerve hypoplasia, Spa... OMIM:300953
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Ataxia, Cardiomegaly, Dysesthesia, Diplopia, Unsteady gait, Optic atrophy, Pe... OMIM:619259
Optic Atrophy 11
Myopia, Ataxia, Optic nerve hypoplasia, Amblyopia, Splenomegaly, Gait apraxia, Optic atrophy, Hyp... OMIM:617302
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Optic atrophy, Gait ataxia, Choreoathetosis, Astrocytosis, Gait disturbance, Atrophy/Dege... ORPHA:225154
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebellar... OMIM:615181
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Myopia, Hypopigmentation of hair, Abnormal retinal morphology, Albinism, Hypopigmentation of the ... ORPHA:2786
X-Linked Intellectual Disability, Najm Type
Myopia, Optic nerve hypoplasia, Optic atrophy, Gait disturbance, Cerebellar hypoplasia, Chorioret... ORPHA:163937
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Myopia, Sparse eyelashes, Optic nerve hypoplasia, Ventricular septal ... OMIM:615280
Friedreich Ataxia
Impaired vibratory sensation, Ataxia, Optic atrophy, Reduced visual acuity, Impaired propriocepti... OMIM:229300
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Myopia, Peripheral axonal neuropathy, Optic nerve hypoplasia, Optic atrophy, ... ORPHA:496790
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... OMIM:126070
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormal retinal morphology, Abnormali... ORPHA:170
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Retinal detachment, Blindness, Myopia, Fusion of the cerebellar hemisph... ORPHA:370959
Hsd10 Disease, Infantile Type
Blindness, Diffuse cerebral atrophy, Cardiomegaly, Visual loss, Optic atrophy, Cerebral atrophy, ... ORPHA:391428
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves, Chorea, Gait ataxia, Abnormality of vision, Progressive cerebel... ORPHA:282166
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Myopia, Alopecia, Hypopigmentation of hair, Abnormal heart morphology, Visual impairment ORPHA:1067
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Cerebral atrophy, Astrocytosis, Gliosis, Neuronal loss in central nervous system, Visual ... ORPHA:204
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, Iris hypopigmentation, White eyebrow, Amblyopia, Blue i... ORPHA:352731
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O... ORPHA:101085
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Melanin pigment... OMIM:607624
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Refsum Disease, Classic
Somatic sensory dysfunction, Ataxia, Cardiomegaly, Nyctalopia, Cardiomyopathy, Rod-cone dystrophy... OMIM:266500
Optic Atrophy-Intellectual Disability Syndrome
Myopia, Optic disc hypoplasia, Optic nerve hypoplasia, Cerebral visual impairment, Amblyopia, Opt... ORPHA:401777
Fanconi Anemia, Complementation Group I
Myopia, Ventricular septal defect, Optic nerve hypoplasia, Chiari malformation, Atrial septal def... OMIM:609053
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Ataxia, Abnormal ey... ORPHA:2885
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Visual impairment, Cardiomegaly ORPHA:858
5Q14.3 Microdeletion Syndrome
Frontal cortical atrophy, Agenesis of cerebellar vermis, Optic nerve hypoplasia, Thick eyebrow ORPHA:228384
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasi... ORPHA:137634
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Neuronal loss in central nervous system, Gait disturbance, Cerebral cortical atrophy, Astrocytosis OMIM:600795
Squalene Synthase Deficiency
Optic nerve hypoplasia, Bicuspid aortic valve, Abnormality of hair pigmentation, Cerebral visual ... OMIM:618156
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Chiari type I malformation, Horizontal eyebrow... OMIM:615879
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Visual fiel... ORPHA:447788
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Inability to walk, Difficulty walking, Astrocytosis OMIM:611087
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation... OMIM:256710
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly, Abnormal autonomic nervous system physiology, Vitreous floaters ORPHA:85447
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Thick hair, Optic nerve hypoplasia, Synophrys, Long eyelashes, Horizontal eyebrow, Thick eyebrow,... OMIM:618381
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Optic atrophy, Cerebellar hypoplasia, Visual impairment ORPHA:1528
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Optic nerve hypoplasia, Highly arched eyebrow, Retinal telangiectasia, Hypopl... OMIM:620157
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Ataxia, Inability to walk, Chorea, Abnormal heart morphology, Hypertrop... ORPHA:70472
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Low anterior hairline, Optic nerve hypoplasia, Dandy-Walker malformation OMIM:618736
Chromosome 19P13.13 Deletion Syndrome
Chiari type I malformation, Optic atrophy, Optic nerve hypoplasia OMIM:613638
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Optic nerve hypoplasia OMIM:218670
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Cerebral visual impairment, Visual loss, Limb ataxia, Trun... OMIM:619051
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Cerebral atrophy, Fair hair, Hypopigmentation of the skin OMIM:269920
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Hypermetropia, Cerebellar hypopl... OMIM:301056
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Ataxia, Cardiomegaly, Diplopia, Amyloid deposition in the vitreous ... OMIM:105210
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Splenomegaly, Dysmetria, Cardiomyopathy, Progressive visual loss, Che... OMIM:256550
White-Sutton Syndrome
Waddling gait, Myopia, Atrial septal defect, Optic nerve hypoplasia, Mild myopia, Hypermetropia, ... OMIM:616364
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Waddling gait, Left atrial enlargement, Cardiomegaly, Synophrys, Broad n... OMIM:300280
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
Ataxia-Telangiectasia
Abnormality of chromosome stability, Hypopigmentation of hair, Ataxia, Premature graying of hair,... ORPHA:100
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Gait disturbance, Astrocytosis ORPHA:275864
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect, Optic nerve hypoplasia, Cerebral atrophy OMIM:615583
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Cardiomegaly OMIM:613576
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... ORPHA:79433
Nabais Sa-De Vries Syndrome, Type 1
Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Low anterior hairline, Long eyelashes OMIM:618828
16Q24.3 Microdeletion Syndrome
Myopia, Ventricular septal defect, Optic nerve hypoplasia, Abnormal hair pattern, Highly arched e... ORPHA:261250
Cockayne Syndrome Type 3
Optic disc pallor, Dry hair, Retinal atrophy, Retinal dystrophy, Peripheral axonal neuropathy, He... ORPHA:90324
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Myopia, Hypopigmentation of hair, Albinism, Absent skin pigmentation, Wh... OMIM:203100
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Ataxia, Synophry... ORPHA:2884
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal hair mo... ORPHA:894
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Photophobia, Abnorm... ORPHA:79431
Chediak-Higashi Syndrome
Hepatomegaly, Hypopigmentation of hair, Ataxia, Decreased nerve conduction velocity, Silver-gray ... OMIM:214500
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Cerebellar hypoplasia, Optic nerve hypoplasia ORPHA:65288
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... ORPHA:895
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hypopigmentation of hair, Ataxia, Hypopigmentation of the skin, Iris hypopigmen... ORPHA:411515
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Aplasia/Hypoplasia of the cerebellum, Optic nerve hypoplasia, Cerebral visual impairment ORPHA:572013
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Albinism, Reduced visual acuity, Hypopigmentation of the skin, Visual i... OMIM:614072
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Blindness, Freckles in sun-exposed areas, Albinism, Ocular albinism, Me... OMIM:203300
2P15P16.1 Microdeletion Syndrome
Facial palsy, Supernumerary nipple, Optic nerve hypoplasia, Sparse eyebrow, Optic atrophy, Fine h... ORPHA:261349
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Pericardial constriction OMIM:253250
Abetalipoproteinemia
Impaired vibratory sensation, Abnormality of retinal pigmentation, Blindness, Hepatomegaly, Ataxi... ORPHA:14
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Atrial septal defect, Slow-growing hair, Optic nerve hypoplasia, Highly arched eyebro... OMIM:617506
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Chorea, Cerebral cortical atrophy, Optic nerve hypoplasia OMIM:617864
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Hyperpigmented nevi, Abnormal hair morphology, Optic nerve hypoplasia OMIM:607597
Phace Association
Ventricular septal defect, Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased reti... OMIM:606519
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Bresek Syndrome
Alopecia, Aganglionic megacolon, Optic nerve hypoplasia ORPHA:85284
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly OMIM:614702
Alpha-N-Acetylgalactosaminidase Deficiency
Cerebellar hypoplasia, Blindness, Cerebral cortical atrophy, Cardiomegaly ORPHA:3137
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cerebellar atrophy, Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Reduced visual acuity, ... OMIM:618541
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, ... OMIM:252920
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aganglionic megacolon, Optic nerve hypopl... ORPHA:171680
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Visual loss, Inability to w... ORPHA:300570
Brittle Cornea Syndrome
Retinal detachment, Visual loss, Abnormality of hair pigmentation, High myopia, Mitral valve prol... ORPHA:90354
Rabin-Pappas Syndrome
Retinal detachment, Optic nerve hypoplasia, Highly arched eyebrow, Retinal telangiectasia, Hypopl... OMIM:620155
Developmental And Epileptic Encephalopathy 95
Cerebellar atrophy, Hepatomegaly, Ataxia, Highly arched eyebrow, Cardiomegaly, Cerebral visual im... OMIM:618143
Supranuclear Palsy, Progressive, 1
Akinesia, Diplopia, Cerebral atrophy, Granulovacuolar degeneration, Photophobia, Astrocytosis, Gl... OMIM:601104
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Mucopolysaccharidosis Type 3
Cardiomegaly, Synophrys, Coarse hair, Loss of ambulation, Generalized hirsutism, Retinal degenera... ORPHA:581
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Fg Syndrome Type 1
Broad-based gait, Optic nerve hypoplasia, Abnormal cerebellum morphology, Mitral valve prolapse, ... ORPHA:93932
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Abnormal cerebellum morphology, Atrial septal defect, Pa... OMIM:618652
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cerebellar atrophy, Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular ca... OMIM:620066
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia OMIM:618885
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Microphthalmia, Isolated 8
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm OMIM:615113
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Synophrys, Long eyelashes, Cardiomegaly OMIM:619064
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Blindness, Ataxia, Cardiomegaly, Impaired temperature sens... OMIM:268800
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Optic nerve hypoplasia OMIM:614833
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Myopia, Retinal atrophy, Blindness, Optic nerve hypoplasia, Optic atrophy, Re... OMIM:236670
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Optic nerve hypoplasia, Fine hair ORPHA:363686
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Myopia, Bicuspid aortic valve, Optic nerve hypoplasia, Facial palsy, Amblyopia, Truncus arteriosu... ORPHA:508498
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Ataxia, Segmental peripheral demyelination/remyelination, Abnormality of Krebs cycl... ORPHA:255210
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Septo-Optic Dysplasia Spectrum
Aplasia/Hypoplasia of the cerebellum, Septo-optic dysplasia, Optic nerve hypoplasia, Visual impai... ORPHA:3157
Cantu Syndrome
Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Congenital hypertroph... OMIM:239850
Mogs-Cdg
Absent brainstem auditory responses, Alopecia, Hepatomegaly, Left ventricular hypertrophy, Cardio... ORPHA:79330
Microcephaly 20, Primary, Autosomal Recessive
Cerebellar hypoplasia, Blindness, Optic nerve hypoplasia OMIM:617914
Chédiak-Higashi Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Somatic sensor... ORPHA:167
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Broad-based gait, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Sparse eye... ORPHA:495875
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
19P13.13 Microdeletion Syndrome
Optic nerve hypoplasia, Corpus callosum atrophy, Optic atrophy, Chiari type I malformation, Long ... ORPHA:357001
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Blindness, Cerebellar vermis hypoplasia, Caudate atrophy, Optic nerve h... OMIM:615574
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Chromosome 2P16.1-P15 Deletion Syndrome
Hypoplasia of the pons, Cerebral atrophy, Optic nerve hypoplasia, Visual impairment OMIM:612513
Hydranencephaly
Blindness, Optic nerve hypoplasia, Dilatation of the ventricular cavity, Chorioretinal atrophy, A... ORPHA:2177
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Agang... ORPHA:59315
Carney Complex, Type 1
Cardiac myxoma, Schwannoma, Multiple lentigines, Pheochromocytoma, Red hair, Freckling, Profuse p... OMIM:160980
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Brittle Cornea Syndrome 1
Red hair, Myopia, Visual loss, Mitral valve prolapse OMIM:229200
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Optic disc pallor, Optic nerve hypoplasia, Hypoplasia of the pons, Reti... OMIM:300749
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
Hemochromatosis, Type 1
Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Cardiomyopathy, Hyperpigmentation of the skin OMIM:235200
Marshall-Smith Syndrome
Myopia, Atrial septal defect, Brittle hair, Ventricular septal defect, Optic nerve hypoplasia, Hi... OMIM:602535
Rhizomelic Chondrodysplasia Punctata, Type 2
Tetralogy of Fallot, Optic nerve hypoplasia OMIM:222765
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Photophobia, Irregular hyp... ORPHA:999
Phace Syndrome
Optic nerve hypoplasia, Amblyopia, Abnormal heart morphology, Abnormal cardiac septum morphology,... ORPHA:42775
Hermansky-Pudlak Syndrome
Myopia, Hypopigmentation of hair, Partial albinism, Amblyopia, Ocular albinism, Melanocytic nevus... ORPHA:79430
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Oculocerebral Hypopigmentation Syndrome, Cross Type
Myopia, Hypopigmentation of hair, Ataxia, Ocular albinism, Abnormality of vision, Athetosis, Chor... ORPHA:2719
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Inability to walk, Abnormal atrioventricular valve morphology, Mitral valve prolaps... ORPHA:324410
Naxos Disease
Subungual hyperkeratosis, Curly hair, Right ventricular cardiomyopathy, Abnormal morphology of ri... OMIM:601214
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Myopia, Bicuspid aortic valve, Optic nerve hypoplasia, Supernumerary nipple, Ventricular septal d... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Myopia, Bicuspid aortic valve, Optic nerve hypoplasia, Supernumerary nipple, Ventricular septal d... ORPHA:352665
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Splenomegaly, Astrocytosis, Dysdiadochokinesis, Gait disturbance, Difficulty walkin... ORPHA:309854
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Broad-based gait, Ataxia, Gait imbalance, Hypopigmentation of the skin,... ORPHA:411511
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Thick hair, Ventricular septal defect, Cardiomegaly, Pericardial effusion,... ORPHA:363705
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, High hypermetropia, Hypopigmented skin patches, Gait disturbance, Multi... ORPHA:3214
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Inability to walk, Chorea, Brachial plexus neuropathy, Tip-toe gait, Right ventricu... ORPHA:268
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Ataxia, Optic nerve hypoplasia, Low posterior hairline, Positive Romberg sign, Hyperpigmentation ... ORPHA:221139
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Synophrys, Hypopigm... ORPHA:3440
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Abn... ORPHA:85451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal dysp... OMIM:614643
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy, Spastic gait OMIM:619052
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Hepatomegaly, Ataxia, Cerebral visual impairment, Visual loss, Cerebral corti... OMIM:203700
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Ataxia, Cardiomegaly ORPHA:42
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia ORPHA:1068
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Temporal cortical atrophy, Astrocytosis, Frontotemporal c... ORPHA:100070
Griscelli Syndrome Type 2
Hepatomegaly, Hypopigmentation of hair, Partial albinism, Splenomegaly, Premature graying of hair... ORPHA:79477
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Pancreatic And Cerebellar Agenesis
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Secundum atrial septal defect, Cerebellar ... OMIM:609069
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Retinal dystrophy, Optic nerve hypoplasia, Nyctalopia, Optic atrophy, Generalized hypop... OMIM:619321
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy OMIM:212140
D-Glyceric Aciduria
Cerebral cortical atrophy, Optic nerve hypoplasia OMIM:220120
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Brachytelephalangic Chondrodysplasia Punctata
Atrial septal defect, Ventricular septal defect, Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:79345
Bohring-Opitz Syndrome
Retinal atrophy, Cardiomegaly, Inability to walk, Synophrys, Optic atrophy, High myopia, Abnormal... ORPHA:97297
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Broad-based gait, Gait imbalance, Hypopigmentation of the skin, Iris hy... ORPHA:98795
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Cardiomegaly, Absent eyelashes, Cardiomyopathy, Absent toenail, Absent fingernail... ORPHA:158687
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia OMIM:615033
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Cantú Syndrome
Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Low anterior hairline, Low poster... ORPHA:1517
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Inability to walk, Astrocytosis, Cardiomyopathy, Pontocerebellar atrophy ORPHA:258
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Myopia, Abnormal heart valve morphology, Optic nerve hypoplasia, Optic disc co... ORPHA:536471
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Hypoplastic toenails, Dextrotransposition of the great arteries, Atrial septal defe... OMIM:306955
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cerebellar hypoplasia, Cardiomegaly OMIM:616897
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Acromelic Frontonasal Dysostosis
Myopia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retrocerebellar cyst, On... OMIM:603671
Fumarase Deficiency
Decreased fumarate hydratase activity, Optic atrophy, Cerebral atrophy, Perimembranous ventricula... OMIM:606812
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Broad-based gait, Ataxia, Gait imbalance, Hypopigmentation of the skin,... ORPHA:98794
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Aminoacid... ORPHA:411634
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Hypoplastic left heart,... OMIM:301043
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Amblyopia, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Vici Syndrome
Hypopigmentation of hair, Cerebellar vermis hypoplasia, Macular atrophy, Albinism, Dilated cardio... OMIM:242840
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal hair whorl, Olivopontocerebellar hypoplasia, Optic nerve hypoplasia, Cerebral visual imp... ORPHA:457284
Congenital Fibrosis Of Extraocular Muscles
Abnormal visual field test, Abnormal best corrected visual acuity test, Optic nerve hypoplasia, A... ORPHA:45358
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Optic disc pallor, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, H... ORPHA:468631
8Q24.3 Microdeletion Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Highly arched eyebrow, Complete atrioventricul... ORPHA:508488
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Cerebral atrophy, Cherry red spot of the macula, Spasti... OMIM:230000
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Ataxia ORPHA:31
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebellar atrophy, Cardiomegaly, Cerebral atrophy, Cerebral visual impairment OMIM:620306
Stromme Syndrome
Retinal vascular tortuosity, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Optic nerve hyp... OMIM:243605
Syndromic Diarrhea
Atrial septal defect, Hypopigmentation of hair, Brittle hair, Bicuspid aortic valve, Hepatomegaly... ORPHA:84064
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Sparse scalp hair, Optic nerve hypoplasia OMIM:620029
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Myopia, Optic nerve hypoplasia, Cerebral visual impairment, Sparse eyebrow, Optic atr... ORPHA:500150
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Reduced visual acuity, Pigmentary retinopathy, Decreased methylmalonyl-CoA mutase activity, Cereb... OMIM:277400
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormal medulla oblongata morphology, Ataxia, Concentric hypertrop... OMIM:601992
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Amblyopia, Cardiomegaly, Hypermetropia, Low posterior hairline, Mitral val... OMIM:245600
Cerebrooculonasal Syndrome
Cerebellar vermis hypoplasia, Sparse eyelashes, Optic nerve hypoplasia, Sparse eyebrow, Dandy-Wal... OMIM:605627
Microphthalmia, Syndromic 5
Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Microphthalmia, Syndromic 3
Optic nerve aplasia, Ventricular septal defect, Optic nerve hypoplasia OMIM:206900
Craniosynostosis 4
Chiari type I malformation, Optic nerve hypoplasia OMIM:600775
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Synophrys, Low posterior hairline, Subcortical cerebral atrophy, Hirsutism ORPHA:2463
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... OMIM:602782
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Aganglionic megacolon, Ataxi... ORPHA:163746
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Decreased methylmalonyl-CoA mutase activity, Cerebral cortical atrophy OMIM:277410
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Generalized bronze hyperpigmentation, H... ORPHA:465508
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Pseudo-Torch Syndrome 3
Cerebellar hypoplasia, Cardiomegaly OMIM:618886
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Myopia, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ataxia, Cardiom... OMIM:300967
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:201475
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Retinopathy, Cardiomegaly OMIM:603903
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Few cafe-au-lait spots, Pain insensitivity, Cerebellar vermis hypoplasia, Ventricular septal defe... OMIM:620330
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Proboscis Lateralis
Abnormal eyebrow morphology, Abnormal location of the eyebrow, Optic nerve hypoplasia, Ventricula... ORPHA:141099
Aniridia 1
Hypoplasia of the fovea, Optic nerve hypoplasia, Chorioretinal hypopigmentation, Macular agenesis... OMIM:106210
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Brittle hair, Cardiomegaly, Sparse eyebrow, Splenomegaly, Tip-toe gait, Sparse hair... OMIM:252500
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Aortopulmonary window OMIM:620025
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Fucosidosis
Hepatomegaly, Abnormality of the nail, Cardiomegaly ORPHA:349
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Cystinosis, Nephropathic
Hypopigmentation of the skin, Hypopigmentation of hair, Blindness, Hepatomegaly, Retinal pigment ... OMIM:219800
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Hepatosplenomegaly OMIM:608013
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Cerebellar malformation ORPHA:137675
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Baller-Gerold Syndrome
Myopia, Optic nerve hypoplasia, Optic atrophy, Abnormal heart morphology, High myopia, Chiari mal... OMIM:218600
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... ORPHA:99826
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:614921
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cerebellar vermis hypoplasia, Cardiomegaly, Cardiomyopathy, Abnormal myocardium mor... ORPHA:228308
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Brain atrophy, Visual im... OMIM:618278
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Difficulty walking, Cardiomegaly OMIM:232300
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Inability to walk, Difficulty walking, Left ventricular hypertrophy, ... ORPHA:365
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Sparse e... OMIM:300855
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Abnormal cerebellum morphology, Optic nerve hypoplasia ORPHA:226307
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:308552
Williams Syndrome
Bicuspid aortic valve, Cardiomegaly, Hypoplastic toenails, Dysmetria, Atrial septal defect, Myopi... ORPHA:904
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Yellow Fever
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... ORPHA:99829
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Decreased methylmalonyl-CoA mutase activity OMIM:251110
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... ORPHA:449395
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Aicardi-Goutières Syndrome
Cardiomegaly, Hepatosplenomegaly, Degeneration of the striatum, Brain atrophy, Difficulty walking... ORPHA:51
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Yunis-Varon Syndrome
Sparse scalp hair, Sparse eyelashes, Ventricular septal defect, Cardiomegaly, Sparse eyebrow, Car... ORPHA:3472
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Decreased methylmalonyl-CoA mutase activity OMIM:251100
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Hypoplastic fingernail ORPHA:96191
Combined Pituitary Hormone Deficiencies, Genetic Forms
Optic nerve hypoplasia, Septo-optic dysplasia, Abnormality of secondary sexual hair ORPHA:95494
Singleton-Merten Syndrome 1
Waddling gait, Myopia, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Onyc... OMIM:182250
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Splenomegaly, Melanocytic nevus, Chiari malformation, Choroideremia, ... ORPHA:116
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... ORPHA:91500
Holoprosencephaly 9
Optic nerve hypoplasia OMIM:610829
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Sparse axillary hair, Cardiomegaly, Splenomegaly, Premature graying of hair, Hyperp... OMIM:256040
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Liver Disease, Severe Congenital
Hepatomegaly, Dry hair, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenom... OMIM:619991
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Dandy-Walker malformation, En... OMIM:130650
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Choroidal neovascularization, Cardiomegaly, Pericardial effusion, Abnorm... ORPHA:51608
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... 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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