Gene Summary

Name:
centromere protein O
Synonyms:
8430427C03Rik,  D12Ertd482e,  2810429O05Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Cenpotm1b(KOMP)Mbp HOM   Early adult 0.00
abnormal lens morphology Cenpotm1b(KOMP)Mbp HET   Early adult 3.81×10-05
decreased circulating calcium level Cenpotm1b(KOMP)Mbp HET Early adult 4.11×10-08
decreased circulating cholesterol level Cenpotm1b(KOMP)Mbp HET Early adult 1.85×10-06
embryonic lethality prior to tooth bud stage Cenpotm1b(KOMP)Mbp HOM   E12.5 0.00
decreased circulating HDL cholesterol level Cenpotm1b(KOMP)Mbp HET Early adult 2.31×10-09
decreased circulating glucose level Cenpotm1b(KOMP)Mbp HET Early adult 2.41×10-06
decreased circulating iron level Cenpotm1b(KOMP)Mbp HET Early adult 4.85×10-05
decreased circulating triglyceride level Cenpotm1b(KOMP)Mbp HET Early adult 2.73×10-05
increased heart weight Cenpotm1b(KOMP)Mbp HET Early adult 2.18×10-06
embryonic lethality prior to organogenesis Cenpotm1b(KOMP)Mbp HOM   E9.5 0.00
decreased circulating free fatty acids level Cenpotm1b(KOMP)Mbp HET Early adult 3.15×10-08
hyperactivity Cenpotm1b(KOMP)Mbp HET   Early adult 5.44×10-05
decreased blood urea nitrogen level Cenpotm1b(KOMP)Mbp HET Early adult 1.79×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (1 of 1)
Brain N/A heterozygote 100% (1 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
Ear N/A heterozygote 100% (1 of 1)
Eye N/A heterozygote 100% (1 of 1)
Footplate N/A heterozygote 100% (1 of 1)
Forebrain N/A heterozygote 100% (1 of 1)
Forelimb N/A heterozygote 100% (1 of 1)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (1 of 1)
Head N/A heterozygote 100% (1 of 1)
Heart N/A heterozygote 100% (1 of 1)
Hindbrain N/A heterozygote 100% (1 of 1)
Hindlimb N/A heterozygote 100% (1 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (1 of 1)
Maxillary process N/A heterozygote 100% (1 of 1)
Midbrain N/A heterozygote Ambiguous
Nose N/A heterozygote 100% (1 of 1)
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote 100% (1 of 1)
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote 100% (1 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

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

Adult LacZ

LacZ Images Section

14 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

4 Images

Eye Morphology

Images Slit Lamp

3 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Cenpo 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 Cenpo by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I ... OMIM:620058
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Insulin resis... OMIM:612526
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, Abnormal heart morphology DECIPHER:16
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Hyperlipidemia, Hypoglycemia, Hypercholesterolemia OMIM:232700
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Developmental cataract, Decreased H... OMIM:616834
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Hypoglycemia, Hyperammonemia, Increased C-peptide level,... OMIM:620211
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:146200
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Hepatomegaly, Splenomegaly ORPHA:172
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia ORPHA:163693
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly OMIM:619658
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Splenomegaly OMIM:610539
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Splenomegaly ORPHA:100025
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Dilated cardiomyopathy OMIM:620152
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Timothy Syndrome
Hypocalcemia, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Hypoglycemia, Ventricular ... OMIM:601005
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Potocki-Lupski Syndrome
Atrial septal defect, Oral-pharyngeal dysphagia, Hyperactivity, Patent foramen ovale, Motor stere... OMIM:610883
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Hypercholesterolemia OMIM:608320
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Conjunctivitis, Cataract, Hyperphosphat... ORPHA:36913
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Hepatomegaly, Hypoketotic hypoglycemia, Hypocalcemia, Patent foramen ovale,... ORPHA:26793
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Neonatal hypoglycemia, Polyphagia OMIM:606407
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypoglycemia, Hypercholesterolemia OMIM:306000
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hepatomegaly, Hypertriglyceridemia OMIM:615924
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Cataract OMIM:175500
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Conjunctivitis, Cataract, Hyperphosphat... ORPHA:94089
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Agitation, Hepatomegaly, Hyperinsulinemia, Neonatal hypoglycemia, Hypoketo... ORPHA:324575
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Cardiomyopathy, Impaired glucose tolerance, Diabetes mellitus,... OMIM:606069
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Developmental cataract ORPHA:557003
Pseudohypoparathyroidism, Type Ic
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia OMIM:612462
Dahlberg-Borer-Newcomer Syndrome
Cataract, Hypocalcemia, Mitral valve prolapse ORPHA:1563
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Adamantinoma
Hypercalcemia ORPHA:55881
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Type II diabete... OMIM:620121
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly, Developmental cataract, Hypertrophic cardiomyopathy OMIM:618810
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Abnormal transferrin saturation, Anterior subcapsular cataract,... OMIM:600886
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased circulating iron concentration, Hypoglycemia ORPHA:446
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglyce... ORPHA:35878
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hepatomegaly, Hypocholesterolemia OMIM:266510
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Hyperphosphatemia, Hypercalcemia, Recurrent hypoglycemia ORPHA:94086
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Galactokinase Deficiency
Hepatomegaly, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hypog... ORPHA:79237
Oculoskeletodental Syndrome
Hepatomegaly, Hypocalcemia, Hypercalcemia, Developmental cataract, Splenomegaly OMIM:618440
Phenylketonuria
Hyperactivity, Hyperphenylalaninemia, Compulsive behaviors, Attention deficit hyperactivity disor... OMIM:261600
Hyperprolinemia, Type I
Hyperactivity, Hyperprolinemia, Motor stereotypy, Aggressive behavior OMIM:239500
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Glycine Encephalopathy 1
Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior OMIM:605899
X-Linked Sideroblastic Anemia
Glucose intolerance, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Congenital Disorder Of Glycosylation, Type Il
Atrial septal defect, Hepatomegaly, Pericardial effusion, Splenomegaly, Hypoalbuminemia, Hypochol... OMIM:608776
Glycogen Storage Disease Iii
Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Hyperlipidemia, Elevated circulating creat... OMIM:232400
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Pericardial effusion, Hyponatremia, Hypomagnesemia, Hypoalbum... OMIM:618183
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Diabetes mellitus, Elevated transferrin saturation, Dilated card... ORPHA:79230
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elevated circulating methylsuccinic acid concentrat... OMIM:618156
Hepatic Lipase Deficiency
Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:614025
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Juvenile Nephropathic Cystinosis
Polydipsia, Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Glycosuria, Corneal crystals, ... ORPHA:411634
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Double Outlet Right Ventricle
Hypocalcemia, Truncus arteriosus, Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ven... ORPHA:3426
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Increased circulating ferritin concentration OMIM:205950
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hypoglycemia, Decreased circulating cortisol level, Elevated circulating creatine k... OMIM:618838
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Cardiomyopathy, Hypoketotic hypoglycemia, Left ventricular hypertrophy ORPHA:746
Hemochromatosis, Neonatal
Increased circulating iron concentration, Increased circulating ferritin concentration, Abnormali... OMIM:231100
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Splenomegaly, Dysphagia, Cataract OMIM:617913
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Abnormal circulating ceruloplasmin concentration,... OMIM:615517
Albers-Sch├Ânberg Osteopetrosis
Hypocalcemia ORPHA:53
Gracile Syndrome
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... OMIM:603358
Colchicine Poisoning
Myocarditis, Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal ... ORPHA:31824
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
X-Linked Agammaglobulinemia
Hypocalcemia, Conjunctivitis ORPHA:47
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Patent foramen ovale, Hypoglycemia OMIM:607143
Cholera
Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia ORPHA:173
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Pericardial effusion, Hypomagnesemia, Hyperaldosteronism, Hypocalcemic tetany, Dila... ORPHA:73224
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Astigmatism, Corneal opacity ORPHA:2323
Tangier Disease
Hypertriglyceridemia, Corneal opacity, Coronary artery stenosis, Hepatosplenomegaly, Left ventric... ORPHA:31150
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Pericardial effusion, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Propionic Acidemia
Hyperammonemia, Hypoglycemia, Hepatomegaly, Cardiomyopathy ORPHA:35
Hemochromatosis, Type 2B
Hepatomegaly, Cardiomyopathy, Increased circulating iron concentration, Splenomegaly, Elevated tr... OMIM:613313
Pearson Syndrome
Steatorrhea, Hepatomegaly, Hypokalemia, Hypocalcemia, Corneal stromal edema, Cardiomyopathy, Hype... ORPHA:699
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hypog... OMIM:615160
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia ORPHA:2123
Gracile Bone Dysplasia
Hypocalcemia, Aniridia OMIM:602361
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Polyphagia, Hypocalcemic tetany, Conjunctivitis,... ORPHA:79444
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Hepatomegaly, Splenomegaly OMIM:259700
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Hyperactivity, Compulsive behaviors, Motor tics, Attention deficit hyperactivity dis... OMIM:619927
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hypocalcemic Vitamin D-Dependent Rickets
Hepatomegaly, Hypocalcemic seizures, Hypocalcemia, Cardiomyopathy, Hypophosphatemia, Splenomegaly ORPHA:289157
Neuroleptic Malignant Syndrome
Hyperkalemia, Agitation, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concen... ORPHA:94093
8p23.1 deletion syndrome
Hyperactivity, Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Gitelman Syndrome
Polydipsia, Hypermagnesemia, Maternal diabetes, Hypokalemia, Hypocalcemia, Pericardial effusion, ... ORPHA:358
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Splenomegaly, Ventricular septal defect OMIM:235255
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Steatorrhea, Type I diabetes mellitus OMIM:212750
Hypercholesterolemia, Familial, 3
Corneal arcus, Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Developmental cataract, Transient hypophosphatemia OMIM:127000
Velocardiofacial Syndrome
Hypocalcemia, Posterior embryotoxon, Tetralogy of Fallot, Ventricular septal defect, Aggressive b... OMIM:192430
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Inappropriate laughter OMIM:618476
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyper... OMIM:600649
Maternal Uniparental Disomy Of Chromosome 4
Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Decreased LDL cholester... ORPHA:96180
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myopic astigmatism, Hyperactivity, Impulsivity, Frequent temper tantrums, Pulmonic stenosis, Deve... OMIM:620141
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Hepatosplenomegaly, Splenomegaly, Ventricular septal... ORPHA:1655
Generalized Pustular Psoriasis
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Splenomegaly, Hypoglycemia OMIM:613027
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Band keratopathy, Polyphagia, Hypocalcemic tetan... ORPHA:79443
Abetalipoproteinemia
Steatorrhea, Hepatomegaly, Decreased HDL cholesterol concentration, Corneal ulceration, Hypotrigl... ORPHA:14
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Hepatomegaly, Hypocalcemia, Hyperbilirubinemia, Hepatosplenomegaly, Splenomegaly OMIM:259720
Hypercholesterolemia, Familial, 2
Corneal arcus, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly, Hyperactivity, Insulin resistance ORPHA:363400
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Microspherophakia, Hypoglycemia, Hyperammonemia, Secundum atrial septal defect, Cat... OMIM:620609
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Splenomegaly, Abnor... ORPHA:37042
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Coronary artery stenosis, Hypergly... OMIM:615812
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Increased circulating chylomicron concentration, Decreased ci... OMIM:207750
Hemochromatosis, Type 2A
Hepatomegaly, Cardiomyopathy, Increased circulating iron concentration, Splenomegaly, Dilated car... OMIM:602390
Pseudohypoparathyroidism, Type Ia
Cataract, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia, Splenomegaly ORPHA:664
Bacterial Toxic-Shock Syndrome
Myocarditis, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia, E... ORPHA:36234
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Enlarged kidney, Hypercalcemia, Polyphagia ORPHA:251004
Alg12-Cdg
Muscular ventricular septal defect, Patent foramen ovale, Hyponatremia, Recurrent hypoglycemia, H... ORPHA:79324
Late-Onset Isolated Acth Deficiency
Anorexia, Hyperuricemia, Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Hyperc... ORPHA:199299
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Hepatomegaly, Hypoglycemia, Hypertrophic cardiomyopathy ORPHA:156
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemia, Decreased circulating cortisol level OMIM:614736
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Hepatomegaly, Cardiomyopathy, Pericardial effusion, Pericarditis, Hypoalbuminemia, H... OMIM:212065
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures, Diabetes mellitus, Abnormal heart morphology ORPHA:2237
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia... ORPHA:247585
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Congenital Isolated Acth Deficiency
Hyponatremia, Neonatal hypoglycemia, Decreased circulating cortisol level, Hypoglycemic seizures ORPHA:199296
Hypophosphatasia
Hypercalcemia ORPHA:436
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Increased circulating free fatty acid level, Hypophosphatemia, Hypogly... OMIM:605911
Acute Adrenal Insufficiency
Anorexia, Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Decreased... ORPHA:95409
Kaufman Oculocerebrofacial Syndrome
Astigmatism, Microcornea, Hypocholesterolemia, Atrial septal defect, Ventricular septal defect OMIM:244450
Hemochromatosis, Type 3
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... OMIM:604250
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Decreased circulating car... ORPHA:71212
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hyperphosphatemia, Hypomagnesemia ORPHA:428
Hemochromatosis, Type 1
Hepatomegaly, Glucose intolerance, Cardiomyopathy, Diabetes mellitus, Increased circulating iron ... OMIM:235200
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Transient hyperlipidemia, Elevated circulating creatine k... OMIM:255120
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Compulsive behaviors, Hypercalcemia, Motor stereotypy, Attention deficit hyperactivity disorder, ... ORPHA:476126
Hyperparathyroidism, Neonatal Severe
Polydipsia, Calcinosis, Hepatomegaly, Hypercalcemia, Hypophosphatemia, Splenomegaly OMIM:239200
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Unconjugated hyperbilirubinemia, Increased circulating iron concentration, Splenomegaly, Elevated... ORPHA:766
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia, Addictive alcohol use ORPHA:31826
Hypomagnesemia 3, Renal
Polydipsia, Astigmatism, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide... OMIM:248250
Igg4-Related Thyroid Disease
Hypocalcemia, Dysphagia ORPHA:64744
Dubowitz Syndrome
Hyperactivity, Megalocornea, Hypoplasia of the iris, Hypocholesterolemia, Iris coloboma OMIM:223370
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Hypomagnesemia, Self-biting OMIM:618314
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Increased total iron binding capacity, Increased serum bile acid concentration, Hyp... OMIM:616278
Cartilage-Hair Hypoplasia
Hypocalcemia, Hepatomegaly, Cardiomyopathy, Abnormal cardiac septum morphology ORPHA:175
22Q11.2 Deletion Syndrome
Corneal neovascularization, Tricuspid atresia, Abnormal aortic valve morphology, Hypocalcemia, Tr... ORPHA:567
Hypophosphatasia, Infantile
Anorexia, Hypercalcemia, Elevated plasma pyrophosphate OMIM:241500
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Dietary Iron Overload Disease
Hepatomegaly, Elevated hepatic iron concentration, Diabetes mellitus, Abnormal heart morphology, ... ORPHA:139507
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Craniofacioskeletal Syndrome
Hypocalcemia, Atrial septal defect, Ventricular septal defect OMIM:300712
Monosomy 13Q34
Pulmonic stenosis, Common atrium, Insulin resistance, Hypercalcemia ORPHA:96168
Liver Disease, Severe Congenital
Left atrial enlargement, Increased circulating ferritin concentration, Hepatomegaly, Hypocalcemia... OMIM:619991
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia, Increased circulating cortisol level OMIM:131100
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... ORPHA:90363
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Atrial septal defect, Ventricular septal defect ORPHA:163979
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Hypocalcemia, Polyphagia, Fixated interests, Motor stereotypy, Attenti... OMIM:620330
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Abnormality of iron homeostasis, Cardiomyopathy, Diabetes mellitus, Hyperglycemia, ... ORPHA:465508
Addison Disease
Anorexia, Hyperkalemia, Hyperuricemia, Hypoglycemia, Increased circulating renin level, Hyponatre... ORPHA:85138
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hyperkalemia, Hypocalcemia, Hyponatremia, Diabetes mellitus ORPHA:544482
Dysbetalipoproteinemia
Corneal arcus, Xanthelasma, Hypertriglyceridemia, Hepatomegaly, Decreased HDL cholesterol concent... ORPHA:412
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Hyperphosphatemia, Hypercalcemia OMIM:617994
Beta-Thalassemia
Abnormality of iron homeostasis, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy ORPHA:848
Aceruloplasminemia
Aceruloplasminemia, Diabetes mellitus, Increased circulating ferritin concentration, Decreased ci... OMIM:604290
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hypercalcemia, Hyperphosphatemia, Conjunctival whitish salt-like deposits OMIM:211900
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia, Hypoglycemia, Unconjugated hyperbilirubinemia OMIM:613658
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia, Hyperactivity, Recurrent hand flapping, Pulmonic stenosis, Motor stereotyp... OMIM:617600
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Hypocalcemia, Hypophosphatemia, Splenomegaly, Abnormal pulmonary valve morphology ORPHA:667
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Elevated hepatic iron concentration, Splenomegaly, Elevated transferrin saturation,... OMIM:615234
Anemia, Hypochromic Microcytic, With Iron Overload 1
Elevated hepatic iron concentration, Increased circulating iron concentration OMIM:206100
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Hennekam Syndrome
Hypocalcemia, Pericardial effusion, Splenomegaly ORPHA:2136
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Astigmatism, Restrictive cardiomyopathy, Abnormal heart morphology, Hyperca... ORPHA:369837
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hypouricemia, Glycosuria, Hypophosphatemia, Hypoglycemia, Diabetes mellitus OMIM:616026
Vipoma
Anorexia, Hepatomegaly, Hypokalemia, Hypercalcemia, Diabetes mellitus, Increased circulating cort... ORPHA:97282
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Hepatomegaly, Hyperactivity, Hypertrophic cardiomyopathy, Elevated circulat... OMIM:270400
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Somatostatinoma
Anorexia, Steatorrhea, Hepatomegaly, Hypercalcemia, Diabetes mellitus, Increased circulating cort... ORPHA:97283
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenome... OMIM:238600
Pheochromocytoma
Hypercalcemia, Developmental cataract OMIM:171300
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Hepatomegaly, Hypocalcemia OMIM:218330
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Developmental cataract, Hypocalcemic tetany ORPHA:93325
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Transposition of the great arteries, Muscular ventricular septal defect, Hypocalcemia, Ventricula... OMIM:619503
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Digeorge Syndrome
Hypocalcemia, Truncus arteriosus, Posterior embryotoxon, Sclerocornea, Splenomegaly, Tetralogy of... OMIM:188400
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:466650
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Hepatomegaly, Elevated circulating creatine kinase concentration ORPHA:2785
Glucagonoma
Anorexia, Steatorrhea, Hepatomegaly, Hypercalcemia, Diabetes mellitus, Increased circulating cort... ORPHA:97280
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Hepatomegaly, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Fibrous Dysplasia Of Bone
Diabetes mellitus, Hypercalcemia, Hypophosphatemia, Increased circulating cortisol level ORPHA:249
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Charge Syndrome
Hypocalcemia, Pulmonic stenosis, Secundum atrial septal defect, Tetralogy of Fallot, Dysphagia, D... OMIM:214800
Ppoma
Anorexia, Hepatomegaly, Hypercalcemia, Increased circulating cortisol level ORPHA:97278
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... OMIM:601678
Beta-Thalassemia Intermedia
Hepatomegaly, Abnormality of iron homeostasis, Elevated hepatic iron concentration, Hepatosplenom... ORPHA:231222
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Johanson-Blizzard Syndrome
Situs inversus totalis, Atrial septal defect, Hepatomegaly, Conjunctival icterus, Hypocalcemia, I... OMIM:243800
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Hyperproteinemia ORPHA:29073
Grfoma
Anorexia, Hepatomegaly, Hypercalcemia, Increased circulating cortisol level ORPHA:97261
Multiple Endocrine Neoplasia Type 4
Increased glucagon level, Hypercalcemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia,... ORPHA:276152
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Aniridia ORPHA:29072
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased transferrin saturation, Elevated hepatic iron concentration, Increased circulating iron... ORPHA:300298
Zollinger-Ellison Syndrome
Increased glucagon level, Hypercalcemia, Increased circulating cortisol level ORPHA:913
Williams Syndrome
Abnormal circulating lipid concentration, Corneal opacity, Pulmonic stenosis, Mitral valve prolap... ORPHA:904
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:99880
Parathyroid Carcinoma
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:143
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hepatosplenomegaly, Splenomegaly, Dilated cardiomyopathy, Diabet... ORPHA:231226
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Increased total iron binding capacity, Hepatomegaly, Abnormal blood inorganic cation concentratio... ORPHA:309854
Trichohepatoenteric Syndrome 1
Hepatomegaly, Abnormality of iron homeostasis, Hypergalactosemia, Pulmonic stenosis, Increased ci... OMIM:222470
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Beta-Thalassemia Major
Hepatomegaly, Abnormality of iron homeostasis, Hepatosplenomegaly, Splenomegaly, Dilated cardiomy... ORPHA:231214
Williams-Beuren Syndrome
Obsessive-compulsive trait, Myxomatous mitral valve degeneration, Bicuspid aortic valve, Glucose ... OMIM:194050
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Prominent corneal nerve fibers ORPHA:653
Multiple Endocrine Neoplasia Type 1
Anorexia, Hypercalcemia, Primary hypercortisolism, Increased circulating cortisol level ORPHA:652
Syndromic Diarrhea
Hepatomegaly, Abnormality of iron homeostasis, Abnormal heart morphology, Tetralogy of Fallot, Sp... ORPHA:84064
Sotos Syndrome
Neonatal hypoglycemia, Astigmatism, Attention deficit hyperactivity disorder, Abnormal heart morp... ORPHA:821
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Hepatomegaly, Splenomegaly OMIM:612301
Sarcoidosis
Hepatomegaly, Hypercalcemia, Cataract, Abnormal conjunctiva morphology, Keratoconjunctivitis sicca ORPHA:797

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 Cenpo

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 Cenpo.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Cenpotm1b(KOMP)Mbp PMC5503261

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cenpotm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cenpotm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Cenpotm1b(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter