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Gene: Cluh MGI:1921398

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Gene Summary

Name:
clustered mitochondria homolog
Synonyms:
1300001I01Rik

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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
abnormal skin morphology Cluhem1(IMPC)Ccpcz HET Early adult 3.12×10-05
no spontaneous movement Cluhem1(IMPC)Ccpcz HOM E18.5 0.00
abnormal optic disk morphology Cluhem1(IMPC)Ccpcz HET Early adult 3.43×10-05
abnormal vertebral arch morphology Cluhem1(IMPC)Ccpcz HET   Early adult 5.92×10-05
abnormal seminal vesicle morphology Cluhem1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, complete penetrance Cluhem1(IMPC)Ccpcz HOM   Early adult 0.00
abnormal coat appearance Cluhem1(IMPC)Ccpcz HET Early adult 4.70×10-08
increased Ly6C-positive mature NK cell number Cluhem1(IMPC)Ccpcz HET Early adult 1.14×10-05
enlarged seminal vesicle Cluhem1(IMPC)Ccpcz HET Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Hind Leg and Hip

30 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Forepaw

15 Images

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FCS thumbnail FCS
MicroCT E18.5

Embryo reconstruction

3 Images

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Human diseases caused by Cluh 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Combined Oxidative Phosphorylation Deficiency 38
Failure to thrive, Decreased activity of mitochondrial ATP synthase complex, Decreased activity o... OMIM:618378
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decreased activity o... OMIM:615158
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, S... OMIM:616394
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy OMIM:609055
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Diabetes mellitus, Mitochondrial malic enzyme reduced OMIM:229300
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Hypoglycemia OMIM:251110
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerv... OMIM:617087
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Diarrhea 13
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Re... OMIM:620357
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Mitochondrial swelling, Decreased f... OMIM:606812
Combined Oxidative Phosphorylation Deficiency 2
Elevated circulating hepatic transaminase concentration, Decreased activity of mitochondrial ATP ... OMIM:610498
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Bone spicule pigmentation of the retin... OMIM:618889
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Decreased methylmalonyl-CoA mutase activity, Failure to thrive OMIM:251100
Crigler-Najjar Syndrome, Type Ii
Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa... OMIM:606785
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Decreased activity of mitochondrial complex I, Neonatal death OMIM:301021
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity OMIM:277410
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased liver function, Intrauterine growth retardation, Decreased activity of mi... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased liver function, Intrauterine growth retardation, Decreased activity of mi... OMIM:618839
Combined Oxidative Phosphorylation Deficiency 19
Elevated gamma-glutamyltransferase level, Failure to thrive, Mitochondrial swelling, Elevated cir... OMIM:615595
Hsd10 Mitochondrial Disease
Hypoglycemia, Abnormal mitochondrial morphology OMIM:300438
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Hepatic failure, Abnormality of Krebs cycle metabolism, Failure to thrive ORPHA:255210
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, I... OMIM:245400
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Decreased mitochondrial number ORPHA:352470
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Decreased methionine synthase act... OMIM:277400
Congenital Disorder Of Glycosylation, Type Iaa
Optic disc pallor, Attenuation of retinal blood vessels, Scoliosis, Hypertrichosis OMIM:617082
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decre... OMIM:609260
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... ORPHA:79301
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Optic atrophy, Splenomegaly, Retinal degeneration, Cone/cone-rod dystrophy, Rod-co... OMIM:602271
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Decreased ... OMIM:619064
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu... OMIM:618549
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Gilbert Syndrome
Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration OMIM:143500
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Usher Syndrome, Type Iiib
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy OMIM:614504
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness OMIM:616389
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Sensory axonal neuropathy, Decreased nerve conduction velocity, Abnormal periphera... ORPHA:457205
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Stt3B-Cdg
Optic atrophy, Small scrotum, Cryptorchidism, Thrombocytopenia, Micropenis ORPHA:370924
Friedreich Ataxia 2
Decreased pyruvate carboxylase activity, Diabetic ketoacidosis, Mitochondrial malic enzyme reduced OMIM:601992
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Neuronal Intranuclear Inclusion Disease
Spina bifida occulta, Optic atrophy, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2289
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Optic atrophy, Small scrotum, Thick eyebrow, Cryptorchidism, Hirsutism, Fundus atrophy, Scoliosis... ORPHA:1970
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Small scrotum, Cryptorchidism, Thrombocytopenia, Micropenis OMIM:615597
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Leukodystrophy, Hypomyelinating, 21
Optic atrophy, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:619310
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Sclerotic vertebral endplates, Splenomegaly, Reticulocytosis, Thrombocytopenia, An... OMIM:611490
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Death in ... OMIM:611126
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase... OMIM:617049
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Cholestasis, Intrahepatic, Of Pregnancy, 1
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Elevated circ... OMIM:147480
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Coarse hair, Thick eyebrow, Cone/cone-rod dystrophy, Abnormal eyelash morphology, ... ORPHA:1021
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Hepatiti... OMIM:613812
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy OMIM:604393
Combined Oxidative Phosphorylation Deficiency 18
Increased mitochondrial number, Intrauterine growth retardation, Decreased activity of mitochondr... OMIM:615578
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Wildervanck Syndrome
Pseudopapilledema, Low posterior hairline, Short neck, Facial palsy, Fused cervical vertebrae ORPHA:3456
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Peripheral axonal neuropathy, Abnormal autonomic nervous system physiology, Scolio... OMIM:610743
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hepatomegaly... OMIM:306000
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Retrobulbar optic neuritis, Abnormal leukocyte morphology ORPHA:3151
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... ORPHA:71212
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Srd5A3-Cdg
Optic atrophy, Optic disc hypoplasia, Hypertrichosis, Decreased response to growth hormone stimul... ORPHA:324737
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Scoliosis, Kyphosis ORPHA:99014
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... OMIM:201450
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex III, Mitochondrial hypertrophy, Decreased activity of... OMIM:500013
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Large for gestational age, H... ORPHA:263455
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Acute h... OMIM:615453
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:600649
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst... OMIM:616170
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
Liver Failure, Infantile, Transient
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Mitochondrial res... OMIM:613070
Wildervanck Syndrome
Pseudopapilledema, Fused cervical vertebrae OMIM:314600
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic anemia, Re... OMIM:249270
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Cone-Rod Dystrophy, X-Linked, 3
Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Retinal detachment, Optic disc pall... OMIM:300476
Blue Diaper Syndrome
Increased body weight, Increased proinsulin:insulin ratio, Elevated circulating hepatic transamin... ORPHA:94086
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy, Optic disc pallor, Scoliosis, ... OMIM:609541
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Attenuation of retina... OMIM:616959
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Jaundice, Elevated circulating hepatic transaminase concentration, Hypogly... OMIM:616483
Optic Atrophy 14
Optic disc pallor OMIM:620550
Optic Atrophy 5
Optic atrophy, Optic disc pallor OMIM:610708
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Optic atrophy, Hypospadias, Cryptorchidism, Low anterior hairline, Hirsutism, Scoliosis, Synophrys OMIM:300004
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:99901
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Supernumerary nipple, Hypogonadism, Abnormality of retinal pigmentation, Hypogonad... ORPHA:1173
Retinitis Pigmentosa 12
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:600105
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Type II diabetes mel... OMIM:616860
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Elevated circulating hepatic transaminase concentration, Failure to... ORPHA:17
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive OMIM:619518
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscolios... ORPHA:313892
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi... ORPHA:131
Parenteral Nutrition-Associated Cholestasis
Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev... ORPHA:567983
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Os odontoideum, Attenuation of retinal blood vessels, Biconc... OMIM:619260
Stankiewicz-Isidor Syndrome
Cryptorchidism, Abnormal optic disc morphology, Pineal cyst, Shawl scrotum, Micropenis, Hypospadi... OMIM:617516
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo... OMIM:617156
Woods Syndrome
Frontal hirsutism, Optic atrophy, Supernumerary nipple OMIM:615236
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Abnormal autonomic n... OMIM:598500
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:605911
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Large for gest... OMIM:616026
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Incontinentia Pigmenti
Optic atrophy, Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hyp... OMIM:308300
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Normochromic microcytic anemia, Decreased testicular size, Cryptorchidism, Hypospa... OMIM:610198
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cryptorchidism OMIM:613730
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropat... ORPHA:320406
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Failure to thrive, Mitochondrial swelling OMIM:618250
Retinitis Pigmentosa 10
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:180105
Barth Syndrome
Failure to thrive, Abnormal mitochondrial morphology OMIM:302060
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... OMIM:618195
Micro Syndrome
Optic atrophy, Retinal coloboma, Abnormality of retinal pigmentation, Cryptorchidism, Generalized... ORPHA:2510
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number ORPHA:352447
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Decreased motor nerve conduction velocity, Lumbar hyperlordosis, Axonal degenerati... OMIM:601152
Retinitis Pigmentosa 46
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612572
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Splenomegaly, Thrombocytopenia, Anemia, Facial palsy OMIM:615085
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Highly arched eyebrow, Microcytic anemia, Decreased testicular size, Cryptorchidism, Hirsutism, A... ORPHA:293967
Retinitis Pigmentosa 72
Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... OMIM:616469
Dysosteosclerosis
Platyspondyly, Optic atrophy, Abnormal cranial nerve morphology, Hypoplastic vertebral bodies, Ir... ORPHA:1782
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Cryptorchidism, Rod-... OMIM:300578
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity ORPHA:440727
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Optic atrophy, Thoracolumbar kyphosis, Sea-blue histiocytosis, Splenomegaly, Hypop... OMIM:230600
Jalili Syndrome
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... OMIM:217080
Retinitis Pigmentosa
Optic atrophy, Hypogonadism, Attenuation of retinal blood vessels, Abnormality of retinal pigment... ORPHA:791
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy OMIM:602541
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... OMIM:613581
Zika Virus Disease
Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic... ORPHA:448237
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Juvenile Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Retinal arterial occlusion, Increased cu... ORPHA:98977
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape, Failure to thrive ORPHA:543470
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Mogs-Cdg
Optic atrophy, Alopecia, Fair hair, External genital hypoplasia, Long eyelashes, Hepatosplenomega... ORPHA:79330
Retinitis Pigmentosa 14
Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation... OMIM:600132
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy OMIM:535000
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem... OMIM:620430
Retinitis Pigmentosa 60
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:613983
Chops Syndrome
Optic atrophy, Coarse hair, Long eyelashes, Thick eyebrow, Cryptorchidism, Splenomegaly, Cervical... OMIM:616368
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Cryptorchidism, Vaginal atresia, Septo-optic dysplasia, Abnormally ossified vertebrae ORPHA:3301
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... ORPHA:364055
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Say-Barber-Miller Syndrome
Optic atrophy, Sparse eyebrow, Macular degeneration, Highly arched eyebrow, Hypogonadism, Abnorma... ORPHA:3132
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Macular edema, Polycythemia, Neoplasm of the pancreas, Back pain, H... ORPHA:892
Ramon Syndrome
Pigmentary retinopathy, Hypertrichosis, Enlarged labia minora, Optic disc pallor, Scoliosis, Kyph... OMIM:266270
Myhre Syndrome
Platyspondyly, Fine hair, Enlarged vertebral pedicles, Thick eyebrow, Cryptorchidism, Short neck,... OMIM:139210
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Alopecia, Decreased testicular size, Leukocytosis, Hypoplasia of the ovary, Microp... OMIM:619321
Immunodeficiency 9
Hypoplasia of the thymus, Lymphopenia, Abnormal natural killer cell count OMIM:612782
Bardet-Biedl Syndrome 20
Male hypogonadism, Retinal vascular tortuosity, Bilateral cryptorchidism, Papilledema, Rod-cone d... OMIM:619471
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Thoracic hemivertebrae, Hypertrichosis, Thoracic kyphosis, Thoracic scoliosis, ... ORPHA:508498
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Small cervical vertebral bodies, Supernumerary nipple, Cervical spinal canal stenosis, Abnormal o... ORPHA:397715
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce... ORPHA:158061
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou... ORPHA:79124
7Q11.23 Microduplication Syndrome
Horizontal eyebrow, Aplasia/hypoplasia of the uterus, Sparse anterior scalp hair, Long eyelashes,... ORPHA:96121
Dyskeratosis Congenita, X-Linked
Optic atrophy, Alopecia, Premature graying of hair, Decreased testicular size, Pancytopenia, Leuk... OMIM:305000
Cancer-Associated Retinopathy
Optic atrophy, Uterine neoplasm, Foveal hyporeflective spaces on macular OCT, Pancreatic adenocar... ORPHA:71505
Pagod Syndrome
Optic atrophy, Abnormality of the uterus, Abnormal morphology of female internal genitalia, Abnor... ORPHA:991
Sympathetic Ophthalmia
Macular edema, Alopecia, Vitreous floaters, Papilledema, Retinal detachment, Retinal hemorrhage, ... ORPHA:79098
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Optic atrophy ORPHA:363417
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... ORPHA:158048
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of... ORPHA:284339
Osteogenesis Imperfecta
Cervical kyphosis, Abnormal form of the vertebral bodies, Enlarged vertebral pedicles, Biconcave ... ORPHA:666

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 Cluh

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 Cluh.

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

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