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
decreased blood urea nitrogen level Cenpotm1b(KOMP)Mbp HET Early adult 1.79×10-05
abnormal lens morphology Cenpotm1b(KOMP)Mbp HET   Early adult 4.84×10-05
decreased circulating HDL cholesterol level Cenpotm1b(KOMP)Mbp HET Early adult 2.31×10-09
decreased circulating iron level Cenpotm1b(KOMP)Mbp HET Early adult 4.85×10-05
embryonic lethality prior to tooth bud stage Cenpotm1b(KOMP)Mbp HOM   E12.5 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
increased heart weight Cenpotm1b(KOMP)Mbp HET Early adult 2.74×10-08
embryonic lethality prior to organogenesis Cenpotm1b(KOMP)Mbp HOM   E9.5 0.00
decreased circulating triglyceride level Cenpotm1b(KOMP)Mbp HET Early adult 2.73×10-05
preweaning lethality, complete penetrance Cenpotm1b(KOMP)Mbp HOM   Early adult 0.00
decreased circulating glucose level Cenpotm1b(KOMP)Mbp HET Early adult 2.41×10-06
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

Download data as:  TSV  XLS

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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
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 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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

X-ray

XRay Images Forepaw

10 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

14 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 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
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Diabetes mellitus, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hypocalc... OMIM:612526
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, Abnormal heart morphology DECIPHER:16
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Hypoglycemia OMIM:232700
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Atrial septal defect, Attention deficit hyperactivity disorder, Increased C-pepti... OMIM:620211
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:172
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Splenomegaly OMIM:610539
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia ORPHA:163693
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly OMIM:619658
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Alpha-Heavy Chain Disease
Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:100025
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:144300
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hypocalcemia, Dilated cardiomyopathy, Hyponatremia, Hypomagnesemia OMIM:620152
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis, Hyperlysinemia OMIM:238700
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hypocalcemia, Patent foramen ovale, Cardiomegaly,... OMIM:601005
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hyperinsulinism Due To Insr Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... ORPHA:263458
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Fish-Eye Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:136120
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Autoimmune Hypoparathyroidism
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Conjunctivitis, Hypocalcemic te... ORPHA:36913
Potocki-Lupski Syndrome
Hyperactivity, Atrial septal defect, Oral-pharyngeal dysphagia, Patent foramen ovale, Hypocholest... OMIM:610883
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hyperammonemia, Ventricular septal defect, Atrial septal defect, Hepatomegaly, E... ORPHA:26793
Glycogen Storage Disease Ixa1
Hyperuricemia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Hypoglycemia OMIM:306000
Hypotonia-Cystinuria Syndrome
Polyphagia, Neonatal hypoglycemia, Hypocalcemia OMIM:606407
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholest... OMIM:615558
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:94090
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Hyperactivity OMIM:615924
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypoglycemic seizures, Increased circulating free... ORPHA:293964
Hypocalcemia, Autosomal Dominant 1
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:601198
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia, Maternal diabetes, Neonatal hypoglycemia, Fasting hypoglycemia, Agitation, Increased ... ORPHA:324575
Genetic Hyperferritinemia Without Iron Overload
Cataract, Abnormal transferrin saturation, Increased circulating ferritin concentration, Elevated... ORPHA:254704
Hemochromatosis, Type 4
Cataract, Elevated transferrin saturation, Impaired glucose tolerance, Diabetes mellitus, Cardiom... OMIM:606069
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Dahlberg-Borer-Newcomer Syndrome
Cataract, Mitral valve prolapse, Hypocalcemia ORPHA:1563
Pseudohypoparathyroidism, Type Ic
Cataract, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Oculoskeletodental Syndrome
Developmental cataract, Hypocalcemia, Hypercalcemia ORPHA:557003
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia, Hepatomegaly OMIM:266510
Iron Overload, Susceptibility To
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Type II diabetes me... OMIM:620121
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Adamantinoma
Hypercalcemia ORPHA:55881
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Developmental cataract, Hypocholesterolemia, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:618810
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration OMIM:179800
Growth Hormone Insensitivity Syndrome
Diabetes mellitus, Type II diabetes mellitus, Insulin resistance, Hypercholesterolemia, Hypoglycemia ORPHA:181393
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hepatomegaly, Conjugated hyperbilirubinemia, Hypocholesterolemia, Splenomegaly OMIM:607765
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:175500
Blue Diaper Syndrome
Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Galactokinase Deficiency
Cataract, Hepatosplenomegaly, Hypergalactosemia, Increased level of galactitol in plasma, Hepatom... ORPHA:79237
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Elevated circulating methylsuccinic acid concentration, ... OMIM:618156
Intermediate Osteopetrosis
Hepatosplenomegaly, Hypocalcemia ORPHA:210110
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:604765
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly ORPHA:75563
Oculoskeletodental Syndrome
Hepatomegaly, Hypocalcemia, Developmental cataract, Splenomegaly, Hypercalcemia OMIM:618440
Glycogen Storage Disease Iii
Cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ventricular hyp... OMIM:232400
Hjv Or Hamp-Related Hemochromatosis
Elevated transferrin saturation, Diabetes mellitus, Increased circulating ferritin concentration,... ORPHA:79230
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Pericardial effusion, Hyponatremia, Hypoalbum... OMIM:618183
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Hepatic Lipase Deficiency
Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Pseudohypoparathyroidism Type 1B
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Conjunctivitis, Hypocalcemic te... ORPHA:94089
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Glycosuria, Hypouricemia, Hypokalemia, Hyponatremia, Corneal crystals, Polydips... ORPHA:411634
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia, Hypoglycemia ORPHA:364
Refractory Celiac Disease
Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia ORPHA:398063
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:144250
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Double... ORPHA:3426
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Hypocalcemia, Hypoketotic hypoglycemia, Left ventricular hypertrophy ORPHA:746
Tangier Disease
Hepatosplenomegaly, Left ventricular hypertrophy, Coronary artery stenosis, Hypertriglyceridemia,... ORPHA:31150
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Albers-Sch├Ânberg Osteopetrosis
Hypocalcemia ORPHA:53
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased serum iron, Increased circulating ferritin concentrati... OMIM:231100
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Cataract, Hypokalemia, Splenomegaly, Dysphagia, Hypocalcemia, Hyponatremia, Calcinosis OMIM:617913
Glycine Encephalopathy 1
Hyperglycinemia, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Hemochromatosis, Type 5
Elevated transferrin saturation, Abnormal circulating copper concentration, Increased serum iron,... OMIM:615517
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, Decreased circula... OMIM:618838
Colchicine Poisoning
Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypon... ORPHA:31824
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity, Hyperphosphatemia, Hypocalcemia ORPHA:2323
X-Linked Agammaglobulinemia
Conjunctivitis, Hypocalcemia ORPHA:47
Cholera
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia, Hypoglycemia ORPHA:173
Congenital Disorder Of Glycosylation, Type Ig
Hypoglycemia, Hypocalcemia, Patent foramen ovale OMIM:607143
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Pericardial effusion, Hypocalcemia, Dilated cardiomyopathy, Hypocalcemic teta... ORPHA:73224
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum iron, Increased serum pyruvate OMIM:603358
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypomagnesemia, Pericardial effusion, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hemochromatosis, Type 2B
Elevated transferrin saturation, Cardiomyopathy, Hepatomegaly, Increased serum iron, Increased ci... OMIM:613313
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Pearson Syndrome
Cataract, Hypophosphatemia, Glycosuria, Diabetes mellitus, Steatorrhea, Hyperalaninemia, Cardiomy... ORPHA:699
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia ORPHA:2123
Pseudohypoparathyroidism Type 1C
Cataract, Polyphagia, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Conjunctivitis, Hyp... ORPHA:79444
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Hypocalcemia, Splenomegaly OMIM:259700
Gracile Bone Dysplasia
Aniridia, Hypocalcemia OMIM:602361
Phenylketonuria
Blue irides, Cataract, Hyperphenylalaninemia, Hyperactivity, Maternal hyperphenylalaninemia, Atte... OMIM:261600
Gitelman Syndrome
Maternal diabetes, Hypermagnesemia, Hypokalemia, Salt craving, Polydipsia, Primary hyperaldostero... ORPHA:358
Propionic Acidemia
Cardiomyopathy, Hyperammonemia, Hepatomegaly, Hypoglycemia ORPHA:35
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
8p23.1 deletion syndrome
Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology, Atrial septal defect DECIPHER:39
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Hypocalcemia, Splenomegaly OMIM:235255
Celiac Disease, Susceptibility To, 1
Steatorrhea, Type I diabetes mellitus, Hypocalcemia OMIM:212750
Maternal Uniparental Disomy Of Chromosome 4
Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circulating creatine kina... ORPHA:96180
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hypoglycemia OMIM:613027
Neuroleptic Malignant Syndrome
Hyperuricemia, Agitation, Hyperphosphatemia, Elevated circulating creatine kinase concentration, ... ORPHA:94093
Hypercholesterolemia, Familial, 3
Corneal arcus, Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated circulating fumarate concentration, Atrial septal defect, Hyperalaninemi... OMIM:615160
Kenny-Caffey Syndrome, Type 2
Developmental cataract, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Carnitine Palmitoyltransferase I Deficiency
Hyperammonemia, Transient hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase conc... OMIM:255120
Pseudohypoparathyroidism Type 1A
Cataract, Polyphagia, Hypocalcemic seizures, Hyperphosphatemia, Band keratopathy, Hypocalcemia, C... ORPHA:79443
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Hypocalcemia, Splen... ORPHA:1655
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia, Hepatomegaly, Increased blood urea nitrogen, Elevated circulating creatinine concen... OMIM:617872
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia ORPHA:289157
Abetalipoproteinemia
Corneal ulceration, Steatorrhea, Decreased LDL cholesterol concentration, Keratoconjunctivitis si... ORPHA:14
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Hepatomegaly, Hyperinsulinemia, Hypertriglyceridemia, Insulin resistance ORPHA:363400
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Coronary artery stenosis, Hypertriglyceridemia, Hypergly... OMIM:615812
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hyperammonemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiom... OMIM:600649
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Isotretinoin-Like Syndrome
Conotruncal defect, Abnormal cardiac atrium morphology, Bicuspid aortic valve, Aortic valve steno... ORPHA:2306
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Mydriasis, Hepatomegaly, Hyperbilirubinemia, Hypocalcemia, Splenomegaly OMIM:259720
Hypercholesterolemia, Familial, 2
Corneal arcus, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Hemochromatosis, Type 2A
Cardiomyopathy, Hepatomegaly, Increased serum iron, Dilated cardiomyopathy, Increased circulating... OMIM:602390
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen ORPHA:94059
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Decreased circulating apolipoprotein C-II conce... OMIM:207750
Pseudohypoparathyroidism, Type Ia
Cataract, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Decreased prealbumin level, Hypomagnesemia, Hypocalcemia, Type ... ORPHA:37042
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Hepatomegaly, Hypoglycemia, Hypertrophic cardiomyopathy ORPHA:156
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Velocardiofacial Syndrome
Posterior embryotoxon, Tetralogy of Fallot, Hypocalcemia, Ventricular septal defect OMIM:192430
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Alg12-Cdg
Recurrent hypoglycemia, Biventricular hypertrophy, Muscular ventricular septal defect, Patent for... ORPHA:79324
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hypoglycemic seizures, Hyperkalemia, Hyponatremia, Decreased circulating c... ORPHA:199296
Bacterial Toxic-Shock Syndrome
Myocarditis, Elevated circulating creatine kinase concentration, Hypocalcemia, Hypoalbuminemia, E... ORPHA:36234
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Hypercalcemia, Increased blood urea nitrogen, Enlarged kidney ORPHA:251004
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Neonatal hypoglycemia, Hyperammonemia, Abnormal circulating acetylcarnitine concentration, Fastin... ORPHA:71212
Glycogen Storage Disease Ixb
Hepatomegaly, Hyperuricemia, Hypoglycemia, Splenomegaly OMIM:261750
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia OMIM:614736
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Cardiomyopathy, Hepatomegaly, Pericardial effusion, Hypocholesterolemia, Pericarditi... OMIM:212065
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Diabetes mellitus, Hypocalcemic seizures, Hypocalcemia, Abnormal heart morphology ORPHA:2237
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Hepatomegaly, Polydipsia, Splenomegaly, Calcinosis OMIM:239200
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly, Hypoglycemia ORPHA:664
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Blue irides, Hyperactivity, Diabetes mellitus, Hyperphosphatemia, Hypocalcemia ORPHA:280651
Hypophosphatasia
Hypercalcemia ORPHA:436
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Astigmatism, Hypocholesterolemia, Microcornea OMIM:244450
Citrullinemia Type Ii
Hypoproteinemia, Abnormal eating behavior, Hyperactivity, Restlessness, Acute hyperammonemia, Hep... ORPHA:247585
Hemochromatosis, Type 1
Diabetes mellitus, Cardiomyopathy, Hepatomegaly, Increased serum iron, Glucose intolerance, Incre... OMIM:235200
Ethylene Glycol Poisoning
Alcoholism, Hypocalcemia, Hyperkalemia ORPHA:31826
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Type I diabetes mellitus, Hypo... ORPHA:199299
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In... OMIM:604250
Dubowitz Syndrome
Hyperactivity, Iris coloboma, Megalocornea, Hypoplasia of the iris, Hypocholesterolemia OMIM:223370
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Igg4-Related Thyroid Disease
Dysphagia, Hypocalcemia ORPHA:64744
Acute Adrenal Insufficiency
Hyperuricemia, Increased circulating renin level, Decreased circulating cortisol level, Hyperkale... ORPHA:95409
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Hypercalcemia ORPHA:97289
Hypoadrenocorticism, Familial
Hyponatremia, Hypoglycemia, Hyperkalemia OMIM:240200
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased serum iron, Increased... ORPHA:766
22Q11.2 Deletion Syndrome
Cataract, Abnormal pulmonary valve morphology, Tetralogy of Fallot, Ventricular septal defect, At... ORPHA:567
Dietary Iron Overload Disease
Elevated transferrin saturation, Diabetes mellitus, Increased circulating cortisol level, Hepatom... ORPHA:139507
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Pulmonic stenosis, Attention deficit hyperactivity disorder, Myopic astigmatism, D... OMIM:620141
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Mandibuloacral Dysplasia
Hyperinsulinemia, Hypertriglyceridemia, Increased circulating free fatty acid level, Glucose into... ORPHA:2457
Symptomatic Form Of Hfe-Related Hemochromatosis
Elevated transferrin saturation, Diabetes mellitus, Cardiomyopathy, Hepatomegaly, Hyperglycemia, ... ORPHA:465508
Cartilage-Hair Hypoplasia
Abnormal cardiac septum morphology, Cardiomyopathy, Hepatomegaly, Hypocalcemia ORPHA:175
Craniofacioskeletal Syndrome
Atrial septal defect, Hypocalcemia, Ventricular septal defect OMIM:300712
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron b... OMIM:616278
Monosomy 13Q34
Pulmonic stenosis, Insulin resistance, Common atrium, Hypercalcemia ORPHA:96168
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Decreased prealbumin level, Reduced circulating transferrin concent... ORPHA:90363
Liver Disease, Severe Congenital
Hypoproteinemia, Hyperammonemia, Left atrial enlargement, Ventricular septal defect, Elevated cir... OMIM:619991
Multiple Endocrine Neoplasia, Type I
Increased circulating cortisol level, Hypoglycemia, Hypercalcemia OMIM:131100
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Diabetes mellitus, Hyperkalemia, Hypocalcemia, Hyponatremia ORPHA:544482
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Atrial septal defect, Hypocalcemia, Ventricular septal defect ORPHA:163979
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Hypomagnesemia OMIM:618314
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Elevated circulating creatine kinase concentration, Hypoglycemia, Decreased circu... OMIM:618839
Anemia, Hypochromic Microcytic, With Iron Overload 2
Elevated transferrin saturation, Hepatomegaly, Increased circulating ferritin concentration, Elev... OMIM:615234
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased circulating cortisol ... OMIM:618835
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Addison Disease
Hyperuricemia, Increased circulating renin level, Decreased circulating cortisol level, Hyperkale... ORPHA:85138
Aceruloplasminemia
Increased circulating ferritin concentration, Diabetes mellitus, Decreased serum iron, Acerulopla... OMIM:604290
Hyperlipoproteinemia, Type I
Hepatosplenomegaly, Splenomegaly, Hyperlipidemia, Lactescent serum, Hypercholesterolemia, Increas... OMIM:238600
Beta-Thalassemia
Abnormality of iron homeostasis, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy ORPHA:848
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Hypophosphatemia, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:667
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Anemia, Hypochromic Microcytic, With Iron Overload 1
Elevated hepatic iron concentration, Increased serum iron OMIM:206100
D-Glyceric Aciduria
Increased circulating free fatty acid level, Nonketotic hyperglycinemia, Hyperglycinemia ORPHA:941
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoglycemia, Hypoalbuminemia OMIM:613658
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Astigmatism, Abnormal heart morphology, Hypertriglyceridemia, Restrictive c... ORPHA:369837
Hennekam Syndrome
Pericardial effusion, Hypocalcemia, Splenomegaly ORPHA:2136
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Attention deficit hyperactivity disorder, Hypercalcemia, Complete atrioventricular canal defect ORPHA:476126
Pheochromocytoma
Developmental cataract, Hypercalcemia OMIM:171300
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Glycosuria, Hypouricemia, Diabetes mellitus, Hepatomegaly, Hypoglycemia OMIM:616026
Smith-Lemli-Opitz Syndrome
Cataract, Hyperactivity, Ventricular septal defect, Atrial septal defect, Elevated 7-dehydrochole... OMIM:270400
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Hepatomegaly, Hypocalcemia OMIM:218330
Autosomal Dominant Kenny-Caffey Syndrome
Developmental cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemic tetany ORPHA:93325
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Dilated cardiomyopathy OMIM:610768
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Digeorge Syndrome
Ventricular septal defect, Tetralogy of Fallot, Attention deficit hyperactivity disorder, Scleroc... OMIM:188400
Somatostatinoma
Diabetes mellitus, Increased circulating cortisol level, Steatorrhea, Hepatomegaly, Hypercalcemia ORPHA:97283
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:466650
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... ORPHA:53693
Mastocytosis
Hepatomegaly, Splenomegaly, Hypercalcemia ORPHA:98292
Hepatocellular Carcinoma
Hepatomegaly, Hypokalemia, Hyperbilirubinemia, Type II diabetes mellitus, Hypoglycemia, Hyponatre... ORPHA:88673
Fibrous Dysplasia Of Bone
Diabetes mellitus, Increased circulating cortisol level, Hypophosphatemia, Hypercalcemia ORPHA:249
Vipoma
Diabetes mellitus, Increased circulating cortisol level, Hepatomegaly, Hypokalemia, Hypercalcemia ORPHA:97282
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatosplenomegaly, Hypoplastic left heart, Ventricular septal defect, Mitral atresia, Subvalvula... OMIM:619503
Charge Syndrome
Cataract, Secundum atrial septal defect, Dysplastic tricuspid valve, Iris coloboma, Pulmonic sten... OMIM:214800
Bartter Syndrome, Type 1, Antenatal
Hyperaldosteronism, Hypochloremia, Hyperchloriduria, Increased circulating renin level, Hypokalem... OMIM:601678
Glucagonoma
Diabetes mellitus, Increased circulating cortisol level, Steatorrhea, Hepatomegaly, Hypercalcemia ORPHA:97280
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Diabetes mellitus, Hepatomegaly, Abnormality of iron homeostasis, Elevated he... ORPHA:231222
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Fasting hyperinsulinemia, Increased glucagon level, Hyperin... ORPHA:276152
Ppoma
Increased circulating cortisol level, Hepatomegaly, Hypercalcemia ORPHA:97278
Johanson-Blizzard Syndrome
Situs inversus totalis, Conjunctival icterus, Ventricular septal defect, Atrial septal defect, Di... OMIM:243800
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Decreased transferrin saturation, Increased serum iron, Increased circulating... ORPHA:300298
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Increased glucagon level, Hypercalcemia ORPHA:913
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypocalcemic seizures, Hypermagnesemia, Hypercalcemia ORPHA:405
Multiple Myeloma
Hyperproteinemia, Splenomegaly, Hypercalcemia, Elevated circulating creatinine concentration ORPHA:29073
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Hypercalcemia ORPHA:29072
Grfoma
Increased circulating cortisol level, Hepatomegaly, Hypercalcemia ORPHA:97261
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Hyperparathyroidism-Jaw Tumor Syndrome
Dysphagia, Polydipsia, Hypophosphatemia, Hypercalcemia ORPHA:99880
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Parathyroid Carcinoma
Dysphagia, Polydipsia, Hypophosphatemia, Hypercalcemia ORPHA:143
Williams Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Elevated circulating creati... ORPHA:904
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypocalcemic tetany, Hypophosphatemic rickets ORPHA:289176
Dominant Beta-Thalassemia
Hepatosplenomegaly, Diabetes mellitus, Dilated cardiomyopathy, Abnormality of iron homeostasis, S... ORPHA:231226
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal transferrin saturation, Abnormal blood inorganic cation concentration, Hepatomegaly, Hyp... ORPHA:309854
Trichohepatoenteric Syndrome 1
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Hypermethioninemia, Hepatomega... OMIM:222470
Beta-Thalassemia Major
Hepatosplenomegaly, Diabetes mellitus, Hepatomegaly, Dilated cardiomyopathy, Abnormality of iron ... ORPHA:231214
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Prominent corneal nerve fibers ORPHA:653
Williams-Beuren Syndrome
Blue irides, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Coronary artery ... OMIM:194050
Syndromic Diarrhea
Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Hepatomegaly, Abnormal hear... ORPHA:84064
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Multiple Endocrine Neoplasia Type 1
Increased circulating cortisol level, Primary hypercortisolism, Hypercalcemia ORPHA:652
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Hepatomegaly, Splenomegaly OMIM:612301
Sotos Syndrome
Cataract, Neonatal hypoglycemia, Ventricular septal defect, Atrial septal defect, Astigmatism, At... ORPHA:821
Sarcoidosis
Cataract, Keratoconjunctivitis sicca, Hepatomegaly, Abnormal conjunctiva morphology, Hypercalcemia 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

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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

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