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Gene: Cpeb4 MGI:1914829

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Gene Summary

Name:
cytoplasmic polyadenylation element binding protein 4
Synonyms:
4930447D24Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating calcium level Cpeb4tm1b(EUCOMM)Wtsi HET Early adult 7.69×10-06
increased circulating alkaline phosphatase level Cpeb4tm1a(EUCOMM)Wtsi HET Early adult 5.92×10-09
preweaning lethality, complete penetrance Cpeb4tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
preweaning lethality, complete penetrance Cpeb4tm1b(EUCOMM)Wtsi HOM   Early adult 7.53×10-05
abnormal seminal vesicle morphology Cpeb4tm1b(EUCOMM)Wtsi 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 Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Human diseases caused by Cpeb4 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 Cpeb4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism OMIM:203330
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid... ORPHA:2239
Parathyroid Carcinoma
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:608266
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Adamantinoma
Hypercalcemia ORPHA:55881
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism OMIM:603233
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Pseudohypoparathyroidism Type 2
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc... ORPHA:94090
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... OMIM:619751
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hyperparathyroidism 4
Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:617343
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... ORPHA:140286
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
2P21 Microdeletion Syndrome
Hypogonadism, Hypocalcemia ORPHA:163693
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Anorexia, Splenomegaly, Optic atrophy, Anemia, Choreoathetosis, Neutropenia... ORPHA:79312
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Respiratory insuffi... OMIM:614399
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Anorexia, Crackles, Nonproductive cou... ORPHA:1302
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms OMIM:616341
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Sideroblastic anemia, Respiratory insufficiency due to muscle weakness, Dys... OMIM:613561
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic... ORPHA:36913
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Weight loss, Co... ORPHA:50251
Immunodeficiency 95
Respiratory distress, Respiratory failure, Lymphopenia, Recurrent viral pneumonia OMIM:619773
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Gaucher Disease Type 2
Respiratory distress, Splenomegaly, Dysphagia, Cough, Abnormal pattern of respiration ORPHA:77260
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Decreased b... OMIM:300580
Malaria
Anemia, Respiratory distress, Thrombocytopenia ORPHA:673
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Hypocalcemia ORPHA:2238
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Perching Syndrome
Respiratory distress, Dysphagia OMIM:617055
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Chorea, Optic atrophy, Anemia, Choreoathetosis, Neutropenia, Thrombocytopenia ORPHA:289916
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Pseudohypoparathyroidism, Type Ic
Pseudohypoparathyroidism, Hyperphosphatemia, Hypogonadism, Hypocalcemia, Hypocalcemic tetany OMIM:612462
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Optic atrophy, Death in childhood, Failure to thrive, Thrombocytopenia OMIM:615597
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hyperphosphatemia, Hypocal... OMIM:241410
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Hypocalcemia, Decreased response to growth hormone stimulation test OMIM:606407
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Hypercalcemia ORPHA:2668
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... ORPHA:254875
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Decreased response to growth hormone stimulation test, Cryptorchidism... OMIM:614732
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia OMIM:239199
Holocarboxylase Synthetase Deficiency
Respiratory distress, Ataxia, Anorexia, Tachypnea, Weight loss, Thrombocytopenia ORPHA:79242
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp... ORPHA:36238
Kenny-Caffey Syndrome, Type 1
Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia OMIM:244460
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Failure to thrive, Optic atrophy ORPHA:26792
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia OMIM:619099
Stt3B-Cdg
Respiratory distress, Failure to thrive, Optic atrophy, Thrombocytopenia ORPHA:370924
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Facial palsy, D... OMIM:211530
Hypocalciuric Hypercalcemia, Familial, Type I
Parathyroid adenoma, Hyperparathyroidism, Hypermagnesemia, Hypercalcemia OMIM:145980
Pseudohypoparathyroidism Type 1B
Calcinosis, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Hype... ORPHA:94089
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, Weight loss, Gait ataxia, Failure to thrive OMIM:612075
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive, Aggressive behavior OMIM:237310
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Bardet-Biedl Syndrome 16
Respiratory distress, Obesity OMIM:615993
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Congeni... ORPHA:2323
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Parathyroid carcinoma, Parathyroid... OMIM:145001
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Hypercalcemia ORPHA:2123
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypocalcemia ORPHA:1563
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Secondary hyperparathyroidism, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Triosephosphate Isomerase Deficiency
Normocytic anemia, Optic disc pallor, Macrocytic anemia, Hemolytic anemia, Death in infancy, Resp... OMIM:615512
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Optic atrophy, Tr... OMIM:220110
Familial Isolated Hyperparathyroidism
Parathyroid adenoma, Primary hyperparathyroidism, Hypercalcemia, Hypophosphatemia ORPHA:99879
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy, Failure to thrive OMIM:616974
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Hypospadias, Cryptorchidism, Hypocalcemia, Micropenis OMIM:607143
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia, Cryptorchidism OMIM:618440
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Gracile Bone Dysplasia
Micropenis, Hypocalcemia OMIM:602361
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... ORPHA:264675
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Hypocalcemia, Hypophosphatemia ORPHA:93160
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Somatic sensory dysfunction, Dysphagia ORPHA:240103
Myopathy And Diabetes Mellitus
Respiratory distress, Progressive cerebellar ataxia, Impaired vibratory sensation ORPHA:2596
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Weight loss, Stridor, Cough ORPHA:142
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Hypocalcemia, Abnormal fa... ORPHA:1655
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Ataxia, Chorea, Optic atrophy ORPHA:79097
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, Hypocalcemia, Aplas... ORPHA:2237
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Optic atrophy OMIM:615042
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Timothy Syndrome
Hypocalcemia OMIM:601005
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive ORPHA:91130
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Hypophosphatemia, Hypophosphatemic r... OMIM:612089
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ataxia, Splenomegaly, Optic atrophy, Failure to thrive OMIM:608799
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Abnormal pituitary gland morphology, Euthyroid goiter, Hypocalcemia, Nodular... ORPHA:64744
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79444
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Pancreatic lymphangiectasis, Hypocalcemia, Micropenis, Hypoproteinemia OMIM:235255
Tularemia
Respiratory distress, Pneumonia, Leukocytosis, Anemia, Cough, Pleural effusion, Thrombocytopenia ORPHA:3392
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Ataxia, Tachypnea, Optic atrophy, Respiratory insufficien... OMIM:614299
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive OMIM:263000
Hypocalcemic Vitamin D-Dependent Rickets
Secondary hyperparathyroidism, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology, Respiratory distress... ORPHA:1145
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia OMIM:145981
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Hyperphosphatemia, Hypercalcemia OMIM:617994
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Ataxia, Agitation, Failure to thrive, Abnormal repetitive mannerisms ORPHA:927
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Splenomegaly, Hepatosplenomegaly, Anemia, Dysphagia, Neonatal death,... OMIM:608013
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Nipah Virus Disease
Respiratory distress, Anorexia, Cough ORPHA:99825
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... ORPHA:178320
Succinic Acidemia
Respiratory distress OMIM:600335
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Primary Dystonia, Dyt4 Type
Respiratory distress, Dysdiadochokinesis, Eunuchoid habitus, Dysphagia ORPHA:98805
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia ORPHA:97285
Double Outlet Right Ventricle
Hypoparathyroidism, Hypocalcemia ORPHA:3426
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen, Dysphagia ORPHA:89844
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary arterial hype... ORPHA:2414
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Ataxia, Crackles, Asthma, Tachypnea, Wheezin... OMIM:610978
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79443
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Methemoglobinemia, Hypoxemia ORPHA:464453
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Respiratory insufficiency, Hepatosplenomegaly, Abnormal neuron branching, F... ORPHA:367
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Ataxia, Dysphagia OMIM:620166
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypocalcemia ORPHA:746
Myotonic Dystrophy 1
Respiratory distress, Facial diplegia, Obsessive-compulsive trait, Dysphagia OMIM:160900
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Brain-Lung-Thyroid Syndrome
Respiratory distress, Hyperactivity, Neonatal respiratory distress, Ataxia, Abnormal eating behav... ORPHA:209905
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism, Pseudohypoparathyroidism OMIM:103580
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Respiratory distress, Pancytopenia, Neonatal respiratory distress, Small ... OMIM:260400
Tetanus
Respiratory distress, Tachypnea, Abnormal autonomic nervous system physiology, Autonomic bladder ... ORPHA:3299
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Large for gestational age ORPHA:45452
Moebius Syndrome
Respiratory distress, Facial diplegia, Dysdiadochokinesis, Dysphagia OMIM:157900
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Oromandibular Dystonia
Respiratory distress, Weight loss, Dysphagia, Bruxism ORPHA:93958
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age OMIM:616733
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:251110
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Hypercalcemia, Pituitary null cell adenoma, Pituitary adenoma, Pri... ORPHA:97289
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:251000
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Ataxia, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Im... ORPHA:2131
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Restlessness, Failure to thrive ORPHA:544503
Hypophosphatasia
Hypercalcemia ORPHA:436
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia OMIM:617913
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Japanese Encephalitis
Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, Re... ORPHA:79139
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive ORPHA:261304
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Splenomegaly, Recurrent pneumonia, Optic atrophy, Anemia, Leukopenia, Death... OMIM:617303
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Hypocalcemia, Hyperbilirubinemia, Micropenis ORPHA:163979
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hypercalcemia OMIM:171420
Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Hypocalcemia, Cryptorchidism OMIM:300712
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia ORPHA:596
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Hypocalcemia OMIM:192430
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
Diaphanospondylodysostosis
Respiratory distress, Myelomeningocele ORPHA:66637
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Optic atrophy, Attention deficit hyperactivity disorder, Gait ataxia OMIM:619383
Choanal Atresia
Respiratory distress, Upper airway obstruction, Choking episodes, Tracheomalacia, Chronic sinusit... ORPHA:137914
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropen... ORPHA:292
Hypoglossia With Situs Inversus
Asplenia, Upper airway obstruction, Respiratory distress, Polysplenia OMIM:612776
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Somatic sensory dysfunction, Neutrophilia, Eosinophilia, Pulmonary embolism... ORPHA:3260
Toxic Epidermal Necrolysis
Respiratory distress, Cough, Neutropenia, Weight loss, Anemia, Restrictive ventilatory defect, Dy... ORPHA:537
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Death in infancy, Respiratory distress OMIM:300219
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Isolated Atp Synthase Deficiency
Respiratory distress, Optic atrophy, Ataxia ORPHA:254913
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Congenital Myasthenic Syndrome
Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insufficiency due to muscle w... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insufficiency due to muscle w... ORPHA:98914
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Infantile Myofibromatosis
Neoplasm of the pancreas, Hypercalcemia ORPHA:2591
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration OMIM:620011
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:251100
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Facial palsy, Respiratory i... ORPHA:98915
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Optic atrophy, Respiratory failure, Failure to thrive ORPHA:2707
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve c... ORPHA:206436
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Oculopharyngodistal Myopathy 1
Respiratory distress, Ataxia, Facial palsy, Hypercapnia, Reduced forced vital capacity, Respirato... OMIM:164310
Sepsis In Premature Infants
Small for gestational age, Abnormal mucociliary clearance, Splenomegaly, Leukocytosis, Dyspnea, N... ORPHA:90051
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Hydrocephalus, Respiratory failure, Neonatal death, Pulmonar... OMIM:616482
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Macrocytic anemia, Granulocytopenia OMIM:606164
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Q Fever
Respiratory distress, Pneumonia, Anorexia, Splenomegaly, Hepatosplenomegaly, Anemia, Weight loss,... ORPHA:781
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Ataxia, Recurrent pneumonia, Choreoathetosis, Leukopenia, Neutropenia, Thro... OMIM:616271
Hyperparathyroidism, Neonatal Severe
Calcinosis, Primary hyperparathyroidism, Hypercalcemia, Hypophosphatemia OMIM:239200
Spinal muscular atrophy, type I, with congenital bone fractures
Degeneration of anterior horn cells, Respiratory distress OMIM:271225
Mercury Poisoning
Respiratory distress, Anorexia, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Pearson Syndrome
Hypoparathyroidism, Pancreatic fibrosis, Decreased response to growth hormone stimulation test, H... ORPHA:699
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... OMIM:265120
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Ataxia, Megaloblastic anemia, Pulmonary embolism, Atrophy of the spinal cor... ORPHA:79282
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration OMIM:604377
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombo... OMIM:274150
Carnitine Deficiency, Systemic Primary
Respiratory distress, Failure to thrive OMIM:212140
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Hypercalcemia, Elevated circulating growth hormone concentration, ... OMIM:131100
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Reticulocytopenia, Steroid-responsive anemia, Anemia OMIM:613309
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Failure to thrive, Optic atrophy ORPHA:329178
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Mogs-Cdg
Respiratory distress, Absent brainstem auditory responses, Hypoventilation, Apnea, Optic atrophy,... ORPHA:79330
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Gitelman Syndrome
Neoplasm of the pancreas, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Parathyroid... ORPHA:358
Farber Disease
Respiratory distress, Respiratory insufficiency, Hepatosplenomegaly, Anemia, Failure to thrive, T... ORPHA:333
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia OMIM:606763
Episodic Ataxia Type 1
Respiratory distress, Choreoathetosis ORPHA:37612
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hypercalcemia, Hypophosphatemia OMIM:156400
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Nonproductive cough, Leukocytosis, Leukopenia, Rhinitis, Dysphagi... ORPHA:319213
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Ataxia, Dyspnea, Chorea, Episodic respiratory distress, Optic atrophy, Gait ataxia, Dyspha... ORPHA:255210
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Thrombocytopenia, Hypopnea, Leukopenia, Microangiopathic h... ORPHA:2330
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Biotinidase Deficiency
Respiratory distress, Apnea, Ataxia, Optic neuropathy, Myelopathy, Optic atrophy, Hyperventilation ORPHA:79241
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Congenital hypoparathyroidism, Decreased testicular size,... ORPHA:93325
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small scrotum, Bile duct proliferation, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubi... OMIM:613658
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Hydrocephalus, Optic atrophy, Hepatosplenomegaly, Anemia, Leukopenia, Strid... ORPHA:505248
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Holoprosencephaly, Abnormal cranial nerve morphology ORPHA:990
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Restlessness, Pain insensitivity, Oral-pharyngeal dysphagia, Chorea, Dysmet... OMIM:615273
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Hypercalcemia, Pituitary adenoma, Adrenocorticotropic hormone d... ORPHA:199299
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypospadias, Cryptorchidism, Hypoplasia of the thymus, Abnormality of the ute... ORPHA:567
Ramos-Arroyo Syndrome
Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Decrea... ORPHA:1051
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Death in childhood, Respiratory failure, Chylothorax, Dys... OMIM:620278
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Failure to thrive OMIM:619272
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Ataxia, Hypopnea, D... OMIM:618426
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor, Failure to thrive OMIM:615595
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Large for gestational age ORPHA:226313
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Leukocytosis, Anemia, Respiratory failure, A... ORPHA:340
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Splenomegaly, Neutrophilia, Failure to thrive in infancy OMIM:612852
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Liver Disease, Severe Congenital
Hyponatremia, Hypospadias, Elevated circulating alpha-fetoprotein concentration, Biliary hyperpla... OMIM:619991
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth OMIM:151210
Esophageal Atresia
Respiratory distress, Small for gestational age, Failure to thrive in infancy, Episodic respirato... ORPHA:1199
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Hydrocephalus, Failure to thrive ORPHA:3309
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration, Secondary hyperparathyroidism ORPHA:2785
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Paresthesia, Dysphagia, Inspiratory stridor ORPHA:100050
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax, Anemia OMIM:617300
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Respiratory distress OMIM:231680
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Agnathia-Otocephaly Complex
Respiratory distress, Holoprosencephaly, Tracheomalacia OMIM:202650
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusi... ORPHA:1546
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromocytoma ORPHA:276621
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary null cell adenoma, Hypercalcemia, Pituitary corticotropic cell ade... ORPHA:276152
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Respiratory distre... ORPHA:79329
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Fibrous Dysplasia Of Bone
Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormone concentration, ... ORPHA:249
Pheochromocytoma
Pheochromocytoma, Hypercalcemia OMIM:171300
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Adnp Syndrome
Respiratory distress, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal t... ORPHA:404448
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor... ORPHA:99880
Craniofaciofrontodigital Syndrome
Respiratory distress, Dyspnea, Pulmonary arterial hypertension, Large for gestational age ORPHA:363705
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive ORPHA:50810
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor... ORPHA:143
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Obesity, Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive b... ORPHA:177907
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Cryptorchidism, Small pituitary gland, Hyp... OMIM:619503
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hydrocephalus, Optic atrophy ORPHA:1555
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Ppoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Incre... ORPHA:97278
Nocardiosis
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... ORPHA:31204
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Respiratory insufficiency OMIM:608022
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:214800
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Hypochlor... OMIM:601678
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Aggressive behavior, Choreoathetosis, Failure to thrive ORPHA:17
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... ORPHA:365
Digeorge Syndrome
Parathyroid agenesis, Parathyroid hypoplasia, Hydrocele testis, Ovarian cyst, Hypoplasia of the t... OMIM:188400
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Aspiration, Respiratory distress, Decreased amplitude of sen... OMIM:618733
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia ORPHA:95409
Achondroplasia
Respiratory distress, Death in infancy, Hydrocephalus, Upper airway obstruction OMIM:100800
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Addison Disease
Hyponatremia, Hypoparathyroidism, Primary testicular failure, Hypercalcemia, Hyperkalemia, Increa... ORPHA:85138
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Hydrocephalus OMIM:612863
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Aplasia of the thymus ORPHA:83471
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromocytoma ORPHA:29072
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Cervical myelopathy, Restrictive ventilatory defect OMIM:183900
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Pachyonychia Congenita
Respiratory distress, Failure to thrive ORPHA:2309
Listeriosis
Respiratory distress, Somatic sensory dysfunction, Miscarriage, Pneumonia, Ataxia, Hepatic granul... ORPHA:533
Vitamin D-Dependent Rickets, Type 2A
Secondary hyperparathyroidism, Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Vipoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Incre... ORPHA:97282
Grfoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Incre... ORPHA:97261
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Ataxia ORPHA:438216
Johanson-Blizzard Syndrome
Hypospadias, Increased VLDL cholesterol concentration, Septate vagina, Conjugated hyperbilirubine... OMIM:243800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Small scrotum, Hypocalcemia OMIM:620330
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus, Respiratory distress, Tracheomalacia ORPHA:93259
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary null cell adenoma, Hypercalcemia, Pituitary corticotropic cell ade... ORPHA:913
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Hydrocephalus, Respiratory insufficiency, Restrict... ORPHA:536467
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... ORPHA:1329
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hydrocephalus, Optic atrophy OMIM:123790
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Pain insensitivity, Ataxia, Distal sensory impairment, Painless fractures d... OMIM:256810
Somatostatinoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Incre... ORPHA:97283
Congenital Alveolar Capillary Dysplasia
Asplenia, Pulmonary arterial hypertension, Aganglionic megacolon, Respiratory distress ORPHA:210122
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood OMIM:613848
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Agitation, Cough, Hyperventilation ORPHA:90068
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Respiratory distress, Splenic cyst OMIM:618188
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Failure to ... ORPHA:79404
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Aggressive behavior, Asthma, Nasal flaring, Obesity, Self-injurious behavior, Attention deficit h... ORPHA:466943
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Respiratory distress, Tracheomalacia ORPHA:93260
Tuberous Sclerosis Complex
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha... ORPHA:805
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Small for gestational age, Emphysema, Failure to thrive OMIM:224690
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Glucagonoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Incre... ORPHA:97280
Rubinstein-Taybi Syndrome 1
Accessory spleen, Respiratory distress, Hyperactivity, Failure to thrive, Small for gestational a... OMIM:180849
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Hydrocephalus, Spinal d... OMIM:114290
Multiple Endocrine Neoplasia Type 2
Cervical neoplasm, Hypercalcemia, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parath... ORPHA:653
Leptospirosis
Respiratory distress, Papilledema, Anorexia, Cough, Pleural effusion, Thrombocytopenia ORPHA:509
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest ORPHA:3342
Schinzel-Giedion Syndrome
Respiratory distress, Aganglionic megacolon, Failure to thrive in infancy, Recurrent pneumonia, N... ORPHA:798
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Coccidioidomycosis
Respiratory distress, Eosinophilia, Pneumonia, Abnormality of the spleen, Hydrocephalus, Pleural ... ORPHA:228123
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax OMIM:620306
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... ORPHA:95455
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Hypercalcemia, Pituitary null cell adenoma, Pituitary corticotropic cel... ORPHA:652
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Failure to thrive OMIM:617156
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Optic atrophy, Dysphagia, Abnormal repetitiv... OMIM:616268
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress OMIM:300968
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion OMIM:620369
Rodrigues Blindness
Nasal flaring OMIM:268320
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Asplenia, Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Polysplenia... OMIM:306955
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive ORPHA:2554
8Q24.3 Microdeletion Syndrome
Respiratory distress, Hyperactivity, Small for gestational age, Optic nerve hypoplasia, Tics, Dys... ORPHA:508488
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Impaired pain sensation, Asthma, Paresthesia, Abnormal autonomic ner... ORPHA:3206
Eisenmenger Syndrome
Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Hypochromic microcytic a... ORPHA:97214
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Hydrocephalus, Apnea OMIM:261740
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Hydrocephalus, Respiratory failure, Failure to thrive ORPHA:2556
Osteoglophonic Dysplasia
Respiratory distress, Failure to thrive OMIM:166250
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Failure to thrive, Severe B lymphocytopenia, B lymphocytopenia ORPHA:83617
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress, Syringomyelia OMIM:119600
Scimitar Syndrome
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough ORPHA:185
Doors Syndrome
Respiratory distress, Optic atrophy, Aspiration pneumonia, Thrombocytosis, Spina bifida occulta ORPHA:79500
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Williams Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypercalcemia, Elevated circulating creatine ... ORPHA:904
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis OMIM:305100
Sarcoidosis
Hypercalcemia, Abnormal reproductive system morphology, Enlarged lacrimal glands, Enlargement of ... ORPHA:797
Plague
Respiratory distress, Splenomegaly, Acute infectious pneumonia, Anorexia ORPHA:707
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea ORPHA:2299
Isolated Arrhinia
Respiratory distress ORPHA:1134
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Failure to thrive, Small for gestational age ORPHA:2255
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Splenomegaly OMIM:617088
Williams-Beuren Syndrome
Micropenis, Hypercalcemia OMIM:194050
Sotos Syndrome
Hypospadias, Hypercalcemia, Phimosis, Cryptorchidism, Hydrocele testis ORPHA:821
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Failure to thrive, Recurrent pneumonia, Acute myelomonocytic leukemia ORPHA:99646
Alström Syndrome
Respiratory distress, Optic disc pallor, Somatic sensory dysfunction, Ataxia, Splenomegaly, Chron... ORPHA:64
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Respiratory acidosis OMIM:614748
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress ORPHA:480880
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax ORPHA:3404
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension, Failure to thrive in infancy ORPHA:51608
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... ORPHA:99125
Pmm2-Cdg
Respiratory distress, Ataxia, Aspiration pneumonia, Impaired neutrophil chemotaxis, Failure to th... ORPHA:79318

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 Cpeb4

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 Cpeb4.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Identification of dynamic RNA-binding proteins uncovers a Cpeb4-controlled regulatory cascade during pathological cell growth of cardiomyocytes. Cell reports (May 2021) Cpeb4tm1a(EUCOMM)Wtsi 33979607
Autism-like phenotype and risk gene mRNA deadenylation by CPEB4 mis-splicing. Nature (August 2018) Cpeb4tm1a(EUCOMM)Wtsi 30111840
Circadian- and UPR-dependent control of CPEB4 mediates a translational response to counteract hepatic steatosis under ER stress. Nature cell biology (January 2017) Cpeb4tm1c(EUCOMM)Wtsi Cpeb4tm1a(EUCOMM)Wtsi Cpeb4tm1d(EUCOMM)Wtsi 28092655
Impaired neurodevelopment by the low complexity domain of CPEB4 reveals a convergent pathway with neurodegeneration. Scientific reports (July 2016) Cpeb4tm1a(EUCOMM)Wtsi Cpeb4tm1d(EUCOMM)Wtsi PMC4933966
Sequential Functions of CPEB1 and CPEB4 Regulate Pathologic Expression of Vascular Endothelial Growth Factor and Angiogenesis in Chronic Liver Disease. Gastroenterology (November 2015) Cpeb4tm1c(EUCOMM)Wtsi Cpeb4tm1a(EUCOMM)Wtsi 26627607
Cpeb4-mediated translational regulatory circuitry controls terminal erythroid differentiation. Developmental cell (September 2014) Cpeb4tm1a(EUCOMM)Wtsi PMC4182162

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
Cpeb4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cpeb4tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Cpeb4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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