Gene Summary

Name:
caspase 4, apoptosis-related cysteine peptidase
Synonyms:
ich-3,  Caspase-11,  Casp11

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
increased circulating calcium level Casp4tm1b(KOMP)Wtsi HOM Early adult 5.91×10-06
increased circulating glucose level Casp4tm1b(KOMP)Wtsi HOM Early adult 1.06×10-07
increased circulating insulin level Casp4tm1b(KOMP)Wtsi HOM Early adult 7.69×10-10
increased circulating creatinine level Casp4tm1b(KOMP)Wtsi HOM Early adult 8.81×10-05
decreased pulmonary ventilation Casp4tm1b(KOMP)Wtsi HOM Early adult 1.04×10-05
abnormal cholesterol homeostasis Casp4tm1b(KOMP)Wtsi HOM Early adult 1.14×10-05

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
Epididymis  Section images heterozygote 50% (2 of 4)
Harderian gland  Wholemount images heterozygote 50% (2 of 4)
Ileum  Section images heterozygote 100% (4 of 4)
Kidney  Wholemount images heterozygote 50% (2 of 4)
Testis  Section images heterozygote 50% (2 of 4)
Thyroid gland  Wholemount images heterozygote 25% (1 of 4)
Vas deferens  Wholemount images heterozygote 25% (1 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 50% (2 of 4)
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 50% (2 of 4)
Diaphragm N/A heterozygote 0.0% (0 of 4)
Duodenum N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Midbrain N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Penis N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 50% (2 of 4)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Tongue N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Urinary bladder N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Hind Leg and Hip

10 Images

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Section

5 Images

Adult LacZ

LacZ Images Wholemount

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Casp4 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 Casp4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... ORPHA:35878
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemic se... OMIM:618883
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Hyperinsulinemia, Hypoglycemia OMIM:606528
Adamantinoma
Hypercalcemia ORPHA:55881
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Parathyroid Carcinoma
Parathyroid carcinoma, Hypercalcemia, Hyperparathyroidism OMIM:608266
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Pseudohypoparathyroidism, Type Ii
Pseudohypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo... OMIM:203330
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Hyperparathyroidism 4
Parathyroid carcinoma, Hypercalcemia, Primary hyperparathyroidism OMIM:617343
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Thymic Neuroendocrine Tumor
Abnormal breath sound, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Co... ORPHA:97289
Pseudohypoparathyroidism Type 2
Hypocalcemia, Pseudohypoparathyroidism, Hypocalcemic tetany, Elevated circulating parathyroid hor... ORPHA:94090
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Parathyroid adenoma, Hypercalcemia, Primary hyperparathyroidism, Elevated circu... ORPHA:99879
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Abnormal circulating hormone concentration, Insulin-resistant diabetes mell... ORPHA:280356
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hypertriglyceridemia, Diabetes mellitus OMIM:612526
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Hyperuricemia, Insulin-resistant diabetes mellitus, Hypertri... OMIM:604367
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Decreased circulating parathyroid hormone level, Hypoparathyroidism, Hyperphosphatemia OMIM:146200
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabetic ketoacidosis... OMIM:618858
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Hyperparathyroidism ORPHA:2668
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia, Decreased response to growth hormone stimuation test, Adrenal hypoplasia OMIM:614732
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Parathyroid hyperplasia, Hypophosphatemic rickets, Hypercalcemia, Elevated circ... OMIM:612089
2P21 Microdeletion Syndrome
Hypocalcemia, Hypogonadism, Hypoglycemia, Cystinuria ORPHA:163693
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Multiple Endocrine Neoplasia, Type I
Prolactinoma, Elevated circulating growth hormone concentration, Increased circulating cortisol l... OMIM:131100
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo... OMIM:617994
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo... OMIM:603233
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Hyperparathyroidism OMIM:239199
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Congenital hypoparathyroidism, Hypomagnesemia, Parathyroid agenesis, Hyperphosphate... ORPHA:2239
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Insulin resistance ORPHA:79084
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Elevated circulating growth ... ORPHA:276152
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hurthle cell thyroid adenoma, Hypercalcemia, Parathyroid adenoma, Hyperpar... OMIM:145001
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71526
Azotemia, Familial
Azotemia OMIM:109160
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Elevated circulating parathyroid hormone level OMIM:619073
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hyperglycemia, Diabet... OMIM:606176
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glycosuria OMIM:614817
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Hypophosphatasia
Emphysema, Hypercalcemia, Respiratory insufficiency ORPHA:436
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Diabeti... ORPHA:99886
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Dyspnea, Aminoaciduria, Calcinosis, Hypercalcemia, Primary hyperparathyroidism,... OMIM:239200
Rhabdoid Tumor
Hypercalcemia, Respiratory insufficiency ORPHA:69077
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Hypocalciuric Hypercalcemia, Familial, Type I
Parathyroid adenoma, Hypermagnesemia, Hypercalcemia, Hyperparathyroidism OMIM:145980
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:263455
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Preeclampsia
Elevated circulating creatinine concentration, Type I diabetes mellitus ORPHA:275555
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Respiratory failure, Hyperinsulinemia, Insulin resistance ORPHA:363400
Acute Adrenal Insufficiency
Androgen insufficiency, Adrenal hypoplasia, Decreased circulating cortisol level, Primary adrenal... ORPHA:95409
Addison Disease
Androgen insufficiency, Adrenal hypoplasia, Hypoparathyroidism, Adrenal calcification, Decreased ... ORPHA:85138
Zollinger-Ellison Syndrome
Parathyroid hyperplasia, Pituitary growth hormone cell adenoma, Increased urinary cortisol level,... ORPHA:913
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Vipoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97282
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Central hypot... OMIM:619326
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia, Primary hyperparathyroidism OMIM:145981
Non-Functioning Paraganglioma
Paraganglioma, Hypercalcemia, Paraganglioma of head and neck ORPHA:94080
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Increased blood urea nitrogen, Hyperinsulinemia, Insulin resistance, Elevated circulatin... ORPHA:230
Bangstad Syndrome
Increased circulating cortisol level, Hyperinsulinemia, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Timothy Syndrome
Hypothyroidism, Hypocalcemia, Pneumonia, Hypoglycemia OMIM:601005
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Cystinuria, Decreased respon... OMIM:606407
Hypophosphatasia, Infantile
Apnea, Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Insulin resistance, Hypertriglyceridemia, Increased C-pep... ORPHA:528
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Hyperlipidemia, Glycosuria ORPHA:2089
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia, Mildly elevated creatine kinase, Respiratory ... ORPHA:681
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hypercalcemia OMIM:171420
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Somatostatinoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97283
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Respiratory distress OMIM:616733
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Dyspnea, Pseudohypoparathyroidism, Hypocalcemic tetany, Pituitary resistance to thy... ORPHA:94089
Familial Parathyroid Adenoma
Hypophosphatemia, Parathyroid carcinoma, Parathyroid hyperplasia, Hypercalcemia, Primary hyperpar... ORPHA:99877
Mandibuloacral Dysplasia
Hypercholesterolemia, Glucose intolerance, Hyperinsulinemia, Insulin resistance, Insulin-resistan... ORPHA:2457
Coach Syndrome 2
Elevated circulating creatinine concentration, Apneic episodes in infancy OMIM:619111
Familial Isolated Hypoparathyroidism
Hypocalcemia, Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level ORPHA:2238
Alstrom Syndrome
Recurrent pneumonia, Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypot... OMIM:203800
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Primary hyperparathyroidism OMIM:600740
Acute Interstitial Pneumonia
Dyspnea, Bronchiectasis, Pleural effusion, Elevated circulating creatinine concentration, Nonprod... ORPHA:79126
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Diffuse Alveolar Hemorrhage
Restrictive ventilatory defect, Dyspnea, Elevated circulating creatinine concentration, Respirato... ORPHA:90060
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperl... OMIM:608612
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Fibrous Dysplasia Of Bone
Hypophosphatemia, Elevated circulating growth hormone concentration, Increased circulating cortis... ORPHA:249
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Autoimmune Hypoparathyroidism
Hypocalcemia, Dyspnea, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hyp... ORPHA:36913
Nephronophthisis 2
Elevated circulating creatinine concentration, Respiratory failure, Hyperkalemia, Respiratory ins... OMIM:602088
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Hypothyroidism OMIM:618440
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Calcinosis, Hy... OMIM:248370
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hyperglycemia, Precocious pub... OMIM:246200
Ppoma
Intestinal carcinoid, Increased circulating gonadotropin level, Elevated circulating growth hormo... ORPHA:97278
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Glucagonoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97280
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia, Hypoparathyroidism OMIM:156400
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Monosomy 13Q34
Infantile hypercalcemia, Epistaxis, Insulin resistance ORPHA:96168
Mastocytosis
Cough, Hypercalcemia, Asthma, Respiratory insufficiency ORPHA:98292
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Thrombotic Thrombocytopenic Purpura
Dyspnea, Decreased serum creatinine ORPHA:54057
Grfoma
Intestinal carcinoid, Increased circulating gonadotropin level, Elevated circulating growth hormo... ORPHA:97261
Primary Parathyroid Hyperplasia
Hypophosphatemia, Parathyroid hyperplasia, Hypercalcemia, Primary hyperparathyroidism, Elevated c... ORPHA:99878
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Absence of secon... ORPHA:785
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Paraganglioma, Hypercalcemia, Paragangli... ORPHA:276621
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Congenital hypoparathyroidism, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93324
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Respiratory distress, Hypoketotic hypoglycemia, Episodic tachypnea... ORPHA:26793
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Cholera
Hypocalcemia, Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Aspirati... ORPHA:173
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Parathyroid adenoma, Abnormality of the parathyroid morphology, Hypercalcemia, ... ORPHA:99880
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Hypercalcemia, Paraganglioma, Elevated c... ORPHA:29072
Parathyroid Carcinoma
Hypophosphatemia, Parathyroid carcinoma, Abnormality of the parathyroid morphology, Hypercalcemia... ORPHA:143
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Postprandial hyperglycemia, Impaired glucose tolerance,... ORPHA:769
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Diabetes mellitus, Chronic pulmonary obstruction, ... ORPHA:439232
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Abnormal circulating lipid concentration, Insulin-resistant... ORPHA:79086
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia... OMIM:151660
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Hyperactive renin-angiotensin system, Increased circulating renin level, Inc... OMIM:601678
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Central sleep apnea, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Obstructive sleep a... ORPHA:369837
Multiple Myeloma
Pleural effusion, Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Hepatocellular Carcinoma
Dyspnea, Hyperbilirubinemia, Hyponatremia, Hypoglycemia, Hypokalemia, Hypercalcemia, Hypoalbumine... ORPHA:88673
Multiple Endocrine Neoplasia Type 2
Parathyroid hyperplasia, Pheochromocytoma, Thyroid nodule, Hypercalcemia, Primary hyperparathyroi... ORPHA:653
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Hypothyroidism, Elevated circulating creatinine con... ORPHA:411634
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Congenital hypoparathyroidism, Hyperphosphatemia, Hypocalcemic seizures, Decreased ... OMIM:241410
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Pleural effusion, Hypothyroidism, Hyponatremia, Hypertriglyceridemia, Hypoalbuminem... OMIM:618183
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperinsulinemia, Insul... OMIM:613327
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pleural effusion, Elevated circulating creatinine concentration, Hyperbilirubinemia, Respiratory ... ORPHA:542323
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Pheochromocytoma
Pheochromocytoma, Hypercalcemia OMIM:171300
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Respiratory distress, Cardiorespiratory arrest, Hyponatremia, Abn... ORPHA:31824
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Cough, Epistaxis, Eleva... ORPHA:91547
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Hypoketotic hypoglycemia, Respiratory insufficiency, Respiratory failure, Hypoparat... ORPHA:746
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Generalized aminoaciduria, Postprandial hyperglycemia, Im... ORPHA:2088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hypoxemia ORPHA:232
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Dyspnea, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Hypocalcemic tet... ORPHA:79444
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Hypoparathyroidism, Hypothyroidism ORPHA:1563
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Generalized aminoaciduria, Elevated circulating parathyroid hormo... ORPHA:289157
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism OMIM:244460
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, Delayed pube... ORPHA:3464
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Hypophosphatemic Rickets
Hypophosphatemia, Parathyroid hyperplasia, Hyperparathyroidism, Hyperthyroidism, Hypercalcemia, E... ORPHA:437
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Pleural effusion ORPHA:90363
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea, Hyperglycemia, Hypoglycemia OMIM:220111
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Respiratory distress OMIM:274150
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Respiratory distress, Elevated circulating creatinine concentration, Pneumonia, Hyp... ORPHA:36234
Pyruvate Carboxylase Deficiency
Hyperammonemia, Tachypnea, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased l... ORPHA:3008
Prader-Willi Syndrome
Sleep apnea, Hypoventilation, Hyperinsulinemia, Adrenal insufficiency, Delayed puberty, Type II d... OMIM:176270
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos... ORPHA:508
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Hypothyroidism, De... ORPHA:465508
Pseudohypoparathyroidism, Type Ic
Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Elevated circulating parathyroid h... OMIM:612462
Beta-Ketothiolase Deficiency
Hyperammonemia, Cough, Hyperuricemia, Hypoglycemia, Tachypnea, Hyperglycemia ORPHA:134
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia OMIM:175500
Necrotizing Enterocolitis
Apnea, Hyperglycemia, Hyponatremia, Abnormal glucose homeostasis ORPHA:391673
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Glucose intolerance, Impaired glucose tolerance, Elevated c... OMIM:137920
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Respiratory distress, Decreased prealbumin level, Interstitial pneumonitis, Thyroid... ORPHA:37042
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Dyspnea, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Hypocalcemic tet... ORPHA:79443
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Hyperparathyroidism ORPHA:93160
X-Linked Agammaglobulinemia
Hypocalcemia, Recurrent pneumonia, Sinusitis ORPHA:47
Double Outlet Right Ventricle
Hypocalcemia, Tachypnea, Hypoparathyroidism, Aplasia/Hypoplasia of the thymus ORPHA:3426
Gitelman Syndrome
Hypocalcemia, Maternal diabetes, Hypermagnesemia, Glucose intolerance, Respiratory distress, Insu... ORPHA:358
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Respiratory failure OMIM:259720
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Reduced C-peptide level, Hypoglycemia, Hypoinsulinemia, Recurrent hypog... ORPHA:2126
Cardiogenic Shock
Dyspnea, Elevated circulating creatinine concentration, Crackles, Increased pulmonary capillary w... ORPHA:97292
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Thyroiditis, Steatorrhea, Delayed puberty, Type I diabetes mellitus OMIM:212750
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Elevated circulating parathyroid h... OMIM:103580
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Elevated circulating creatine kinase concentration, Respiratory failure, Reduced vital capacity, ... OMIM:603689
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Elevated circulating creatinine concentration, Increased bloo... OMIM:223900
Muscular Dystrophy, Duchenne Type
Elevated circulating creatine kinase concentration, Hypoventilation, Respiratory failure, Respira... OMIM:310200
Sanjad-Sakati Syndrome
Hypocalcemia, Congenital hypoparathyroidism, Hypoparathyroidism, Hyperphosphatemia ORPHA:2323
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Compensated hypothyroidism, Elevated circulating creatinine concentration, Pneumonia ORPHA:247691
Visceral Steatosis, Congenital
Hypocalcemia, Hypoglycemia OMIM:228100
Obesity-Hypoventilation Syndrome
Hypoventilation OMIM:257500
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hyperglycemia, Hypothyroidism, Hypopituitarism ORPHA:90065
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Pseudohypoparathyroidism, Congenital hypothyroidism, Elevated circulating parathyro... ORPHA:280651
Pancreatic And Cerebellar Agenesis
Apnea, Hyperglycemia, Diabetes mellitus, Hypoglycemia OMIM:609069
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany, Hyperaldosteronism ORPHA:73224
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Breathing dysregulation OMIM:618232
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Parathyroid hypoplasia, Diabetes mellitus, Hypoparathyroidism, Hypocalcemic seizures ORPHA:2237
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Abnormal pattern of respiration ORPHA:428
Steinert Myotonic Dystrophy
Hypercholesterolemia, Male hypogonadism, Hyperinsulinemia, Secondary hyperparathyroidism, Insulin... ORPHA:273
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cardiorespiratory arrest, Abnormality of the hypothalamus-pituitary axis, Premat... ORPHA:293987
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Thyroid lymphangiectasia OMIM:235255
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Pleural effusion, Hypoalbuminemia ORPHA:90362
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Decreased serum leptin, Insulin-resistant diabetes mellitus at puberty, Hyp... OMIM:608594
Sarcoidosis
Dyspnea, Bronchiectasis, Pleural effusion, Cough, Emphysema, Hypothyroidism, Upper airway obstruc... ORPHA:797
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Pineal cyst, Decreased serum creatinine, Decreased HDL cholesterol concentra... OMIM:618885
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Decreased serum leptin, Insulin-resistant diabetes mellitus at puberty, Hyp... OMIM:269700
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Graves disease, Postprandial hyperglycemia, Mildly... ORPHA:79102
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Hypothyroidism, Steatorrhea, Glycosuria, Adrenal insufficiency, H... ORPHA:699
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hypoparathyroidism, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Short Syndrome
Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:269880
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Hashimoto thyroiditis, Elevated circulating C-reac... ORPHA:49041
Mitchell-Riley Syndrome
Hyperglycemia, Hyperbilirubinemia OMIM:615710
Ethylene Glycol Poisoning
Hypocalcemia, Episodic respiratory distress, Abnormal pattern of respiration, Tachypnea, Hyperkal... ORPHA:31826
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Perry Syndrome
Respiratory arrest, Hypoventilation, Central hypoventilation, Respiratory insufficiency OMIM:168605
Atypical Werner Syndrome
Hyperinsulinemia, Fasting hyperinsulinemia, Abnormality of circulating leptin level, Neoplasm of ... ORPHA:79474
Williams Syndrome
Hypothyroidism, Abnormal circulating lipid concentration, Hypercalcemia, Type II diabetes mellitu... ORPHA:904
Postpoliomyelitis Syndrome
Hypoventilation, Respiratory insufficiency ORPHA:2942
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Emphysema, Cough, Respiratory insufficiency, Hypoalbuminemia, Tachypnea OMIM:613658
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Dyspnea, Hyponatremia, Pneumonia, Pleural empyema, Diabetes mellitus, Hyperkalemia ORPHA:544482
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Elevated circulating creatinine concentration ORPHA:730
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Williams-Beuren Syndrome
Glucose intolerance, Early onset of sexual maturation, Hypothyroidism, Hypercalcemia, Diabetes me... OMIM:194050
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration, Dyspnea, Cough ORPHA:93126
Tenorio Syndrome
Hypoinsulinemia, Apnea, Pneumonia, Hypoglycemia OMIM:616260
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Myasthenic Syndrome, Congenital, 20, Presynaptic
Apnea, Stridor, Hypoventilation OMIM:617143
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Neonatal asphyxia, Steatorrhea ORPHA:440713
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Sotos Syndrome
Pulmonary bleb, Hypothyroidism, Hypercalcemia, Neonatal hypoglycemia ORPHA:821
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hypocapnia, Crackles, Elevated circulating creatine kinase concentration, Tachypnea... ORPHA:466650
Igg4-Related Kidney Disease
Interstitial pneumonitis, Abnormality of the anterior pituitary, Thyroiditis, Elevated circulatin... ORPHA:449395
Turner Syndrome Due To Structural X Chromosome Anomalies
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:99413
Turner Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:881
Mosaic Monosomy X
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:99228
Monosomy X
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:99226
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Respiratory insufficiency ORPHA:163979
Cartilage-Hair Hypoplasia
Hypocalcemia, Respiratory insufficiency ORPHA:175
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Aspiration pneumonia, Recurrent pneumonia ORPHA:314655
Bethlem Myopathy
Elevated circulating creatine kinase concentration, Reduced maximal expiratory pressure, Hypovent... ORPHA:610
Central Hypoventilation Syndrome, Congenital, 1
Apnea, Hypoventilation, Hypercapnia, Central hypoventilation, Hypoxemia OMIM:209880
Velocardiofacial Syndrome
Hypocalcemia, Hypoparathyroidism OMIM:192430
Synaptic Congenital Myasthenic Syndromes
Sleep apnea, Hypoventilation, Respiratory distress, Exertional dyspnea, Respiratory insufficiency... ORPHA:98915
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Pulmonary arterial hypertension, Respiratory insufficiency, Atelectasis, Interco... ORPHA:258
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency due to muscle weakness... ORPHA:70
Autosomal Dominant Kenny-Caffey Syndrome
Abnormal circulating follicle-stimulating hormone concentration, Hypocalcemic tetany, Congenital ... ORPHA:93325
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Scorpion Envenomation
Increased circulating creatine kinase MB isoform, Abnormal nasal mucus secretion, Glycosuria, Inc... ORPHA:466677
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Apnea, Chronic rhinitis, Pulmonary arterial hypertension ORPHA:667
Hennekam Syndrome
Hypocalcemia, Respiratory insufficiency, Chylothorax ORPHA:2136
22Q11.2 Deletion Syndrome
Hypocalcemia, Chronic pulmonary obstruction, Hypothyroidism, Atelectasis, Hypoplasia of the thymu... ORPHA:567
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation OMIM:606056
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Digeorge Syndrome
Hypocalcemia, Decreased circulating parathyroid hormone level, Hypothyroidism, Parathyroid hypopl... OMIM:188400
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Sleep apnea, Hypoventilation, Recurrent pneumonia OMIM:618493
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Isolated Permanent Neonatal Diabetes Mellitus
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cells, Glyco... ORPHA:99885
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Sleep apnea, Hypothyroidism, Tracheomalacia, Chronic lung disease, Aspiration pneumonia, Asthma, ... ORPHA:444077
Alström Syndrome
Restrictive ventilatory defect, Puberty and gonadal disorders, Chronic pulmonary obstruction, Hyp... ORPHA:64
Charge Syndrome
Hypocalcemia, Hypothyroidism, Aplasia/Hypoplasia of the thymus, Decreased response to growth horm... OMIM:214800
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91500
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia, Bronchiectasis, Pneumonia, Lymphocytic interstitial pneumonia, Sin... ORPHA:2968
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration, Diabetes mellitus, Hypothyroidism OMIM:243800
Pmm2-Cdg
Elevated circulating growth hormone concentration, Respiratory distress, Hyperinsulinemia, Insuli... ORPHA:79318
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Hypoventilation, Hyponatremia, Respiratory failure, Recurrent pneumonia... ORPHA:731
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Apnea, Hypoventilation, Central sleep apnea, Abnormality of the anterior pituitary, Hypothyroidis... ORPHA:438213
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Diabetes mellitus, Glycosuria OMIM:600001

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 Casp4

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 Casp4.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Excessive phospholipid peroxidation distinguishes ferroptosis from other cell death modes including pyroptosis. Cell death & disease (October 2020) Casp4tm1b(KOMP)Wtsi PMC7591475
Microbiota-modulated CART+ enteric neurons autonomously regulate blood glucose. Science (New York, N.Y.) (August 2020) Casp4tm1a(KOMP)Wtsi 32855216
Adrenergic Signaling in Muscularis Macrophages Limits Infection-Induced Neuronal Loss. Cell (January 2020) Casp4tm1c(KOMP)Wtsi 31923400
The Endotoxin Delivery Protein HMGB1 Mediates Caspase-11-Dependent Lethality in Sepsis. Immunity (October 2018) Casp4tm1c(KOMP)Wtsi Casp4tm1a(KOMP)Wtsi 30314759
Lipid Peroxidation Drives Gasdermin D-Mediated Pyroptosis in Lethal Polymicrobial Sepsis. Cell host & microbe (June 2018) Casp4tm1c(KOMP)Wtsi PMC6043361
Shaping of Intestinal Microbiota in Nlrp6- and Rag2-Deficient Mice Depends on Community Structure. Cell reports (December 2017) Casp4tm1a(KOMP)Wtsi 29281837
Microbiota Normalization Reveals that Canonical Caspase-1 Activation Exacerbates Chemically Induced Intestinal Inflammation. Cell reports (June 2017) Casp4tm1a(KOMP)Wtsi Casp4tm1b(KOMP)Wtsi 28614717

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MGI Allele Allele Type Produced
Casp4tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue
Casp4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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