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Gene: Phpt1 MGI:1922704

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Gene Summary

Name:
phosphohistidine phosphatase 1
Synonyms:
1700008C22Rik

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 pulmonary ventilation Phpt1tm1.1(KOMP)Vlcg HOM Early adult 2.71×10-09
increased pulmonary respiratory rate Phpt1tm1.1(KOMP)Vlcg HOM Early adult 8.00×10-07

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (2 of 4)
Aorta  Wholemount images  Section images heterozygote 100% (4 of 4)
Brain  Wholemount images heterozygote 100% (4 of 4)
Brown adipose tissue  Section images heterozygote 50% (2 of 4)
Cecum  Wholemount images  Section images heterozygote 100% (4 of 4)
Cerebellum  Wholemount images  Section images heterozygote 100% (4 of 4)
Chest bone  Wholemount images heterozygote 50% (2 of 4)
Colon  Wholemount images  Section images heterozygote 100% (4 of 4)
Diaphragm  Wholemount images  Section images heterozygote 100% (4 of 4)
Duodenum  Wholemount images  Section images heterozygote 100% (4 of 4)
Epididymis  Section images heterozygote 50% (2 of 4)
Esophagus  Wholemount images  Section images heterozygote 75% (3 of 4)
Eye  Wholemount images  Section images heterozygote 100% (4 of 4)
Gall bladder  Wholemount images heterozygote 50% (2 of 4)
Harderian gland  Wholemount images  Section images heterozygote 100% (4 of 4)
Ileum  Wholemount images  Section images heterozygote 100% (4 of 4)
Jejunum  Wholemount images  Section images heterozygote 75% (3 of 4)
Kidney  Wholemount images  Section images heterozygote 100% (4 of 4)
Liver  Wholemount images  Section images heterozygote 100% (4 of 4)
Lung  Wholemount images  Section images heterozygote 100% (4 of 4)
Mesenteric adipose tissue  Wholemount images  Section images heterozygote 75% (3 of 4)
Mesenteric lymph node  Wholemount images heterozygote 50% (2 of 4)
Midbrain  Wholemount images  Section images heterozygote 100% (4 of 4)
Olfactory lobe  Wholemount images  Section images heterozygote 100% (4 of 4)
Ovary  Wholemount images  Section images heterozygote 50% (2 of 4)
Oviduct  Wholemount images  Section images heterozygote 50% (2 of 4)
Pancreas  Wholemount images  Section images heterozygote 100% (4 of 4)
Parathyroid gland  Wholemount images heterozygote 25% (1 of 4)
Parotid gland  Section images heterozygote 50% (2 of 4)
Penis  Wholemount images  Section images heterozygote 50% (2 of 4)
Pituitary gland  Wholemount images  Section images heterozygote 100% (4 of 4)
Prostate gland  Wholemount images  Section images heterozygote 50% (2 of 4)
Quadriceps  Wholemount images  Section images heterozygote 100% (4 of 4)
Sciatic nerve  Section images heterozygote 25% (1 of 4)
Skin  Wholemount images  Section images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images  Section images heterozygote 100% (4 of 4)
Spleen  Wholemount images  Section images heterozygote 100% (4 of 4)
Stomach  Wholemount images  Section images heterozygote 100% (4 of 4)
Sublingual gland  Section images heterozygote 50% (2 of 4)
Submandibular gland  Section images heterozygote 50% (2 of 4)
Testis  Section images heterozygote 50% (2 of 4)
Thymus  Wholemount images  Section images heterozygote 100% (4 of 4)
Thyroid gland  Wholemount images  Section images heterozygote 75% (3 of 4)
Tongue  Wholemount images  Section images heterozygote 75% (3 of 4)
Trachea  Wholemount images  Section images heterozygote 75% (3 of 4)
Trigeminal V nerve  Section images heterozygote 50% (2 of 4)
Urinary bladder  Wholemount images  Section images heterozygote 100% (4 of 4)
Uterus  Wholemount images  Section images heterozygote 50% (2 of 4)
Vagina  Section images heterozygote 25% (1 of 4)
Vas deferens  Section images heterozygote 50% (2 of 4)
Vesicular gland  Wholemount images  Section images heterozygote 50% (2 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex 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
Large intestine N/A heterozygote 100% (4 of 4)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (4 of 4)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Vascular system N/A heterozygote Not available
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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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 Skull Lateral Orientation

11 Images

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Adult LacZ

LacZ Images Wholemount

54 Images

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X-ray

XRay Images Hind Leg and Hip

11 Images

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Adult LacZ

LacZ Images Section

196 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Forepaw

11 Images

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Human diseases caused by Phpt1 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 Phpt1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance OMIM:311100
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... OMIM:262400
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... ORPHA:79084
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... ORPHA:276608
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... ORPHA:324575
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia OMIM:620195
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren... OMIM:262700
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314811
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes me... ORPHA:276575
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... OMIM:300770
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Preaxial Hallucal Polydactyly
Diabetes mellitus OMIM:601759
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis OMIM:261650
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Cranial Nerves, Recurrent Paresis Of
Diabetes mellitus OMIM:218200
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i... ORPHA:552
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... OMIM:600955
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp... ORPHA:276556
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus... ORPHA:280356
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO OMIM:616414
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty OMIM:616033
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... OMIM:619326
Mahvash Disease
Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel... OMIM:619290
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Cardiomyopathy, Dilated, 2H
Tachypnea, Cardiorespiratory arrest OMIM:620203
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre... ORPHA:293964
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young OMIM:142330
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... OMIM:604367
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fasting hypogly... ORPHA:263455
Glycogen Storage Disease Vi
Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia OMIM:232700
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
High Altitude Pulmonary Edema
Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... ORPHA:217563
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus ORPHA:3085
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice ORPHA:446
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,... OMIM:201400
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly ORPHA:79237
Obesity-Hypoventilation Syndrome
Hypoventilation OMIM:257500
Joubert Syndrome 7
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:611560
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea OMIM:620085
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic steatosis ORPHA:363400
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Hepatic fib... OMIM:246200
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Diarrhea 13
Recurrent hypoglycemia, Hepatic steatosis OMIM:620357
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... ORPHA:2257
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsulinemia, Insulin-... ORPHA:2298
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism ORPHA:79319
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Hypo... ORPHA:2126
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... ORPHA:300373
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... OMIM:265120
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... OMIM:617872
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia ORPHA:664
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... OMIM:606069
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsuline... ORPHA:528
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia OMIM:261750
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... OMIM:610921
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... OMIM:202200
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni... OMIM:614736
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Respiratory failure, Tachypnea, Respiratory insufficiency OMIM:614299
X-Linked Sideroblastic Anemia
Splenomegaly, Glucose intolerance ORPHA:75563
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean OMIM:604320
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi... ORPHA:79086
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Blue Diaper Syndrome
Decreased circulating T4 concentration, Recurrent hypoglycemia, Elevated circulating thyroid-stim... ORPHA:94086
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Mandibuloacral Dysplasia
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Hemochromatosis, Neonatal
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... OMIM:231100
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren... ORPHA:199296
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Multifocal Atrial Tachycardia
Dyspnea, Tachypnea ORPHA:3282
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Glycogen Storage Disease Ixc
Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation, Fasting hypoglycemia, Cirrhosi... OMIM:613027
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis... OMIM:616113
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia OMIM:602579
Alstrom Syndrome
Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decrea... OMIM:203800
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II ... OMIM:151660
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Atypical Rett Syndrome
Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:3095
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly, Hypoglycemia OMIM:306000
Joubert Syndrome 3
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608629
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Glucose intolerance OMIM:309620
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic aplasia OMIM:615935
Pyruvate Dehydrogenase Deficiency
Dyspnea, Tachypnea ORPHA:765
Citrullinemia Type I
Tachypnea ORPHA:247525
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Breathing dysregulation OMIM:618232
Rabson-Mendenhall Syndrome
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... ORPHA:769
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism, Delayed puberty, A... ORPHA:95496
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea OMIM:615838
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea OMIM:614857
Propionic Acidemia
Tachypnea, Apnea OMIM:606054
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Increased hepatic echogenicity, Fasting hypoglycemia, Impaired glucon... OMIM:261680
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperventilation OMIM:253270
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea ORPHA:2872
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea OMIM:613320
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Tachypnea OMIM:201475
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Insulin resistance, Hyperinsulinemia, Hepatic steatosis OMIM:613327
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperi... OMIM:608594
Coronary Arterial Fistula
Orthopnea, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea ORPHA:2041
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... OMIM:248370
Perry Syndrome
Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency OMIM:168605
Postpoliomyelitis Syndrome
Hypoventilation, Respiratory insufficiency ORPHA:2942
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Infantile Liver Failure Syndrome 2
Jaundice, Hypoglycemia OMIM:616483
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Ullrich Congenital Muscular Dystrophy 2
Nocturnal hypoventilation OMIM:616470
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... ORPHA:1329
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea ORPHA:26793
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Splenomegaly, Hyperinsulinemia, Insulin... OMIM:269700
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea ORPHA:2318
Perry Syndrome
Central hypoventilation ORPHA:178509
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Hepatic steatosis OMIM:201450
Leprechaunism
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, I... ORPHA:508
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea ORPHA:860
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Joubert Syndrome
Apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:475
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea OMIM:617143
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... OMIM:176270
Biotinidase Deficiency
Tachypnea, Apnea OMIM:253260
Cholera
Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmonary arteria... ORPHA:99106
Hyperparathyroidism, Neonatal Severe
Dyspnea, Tachypnea OMIM:239200
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation OMIM:209880
Sting-Associated Vasculopathy, Infantile-Onset
Tachypnea OMIM:615934
Beta-Ketothiolase Deficiency
Tachypnea, Cough ORPHA:134
Double Outlet Right Ventricle
Tachypnea ORPHA:3426
Rh Deficiency Syndrome
Hypoxemia, Tachypnea ORPHA:71275
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea, Recurrent aspiration pneumonia, Chronic lung disease ORPHA:397715
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Tachypnea, Pneumonia ORPHA:36234
Serotonin Syndrome
Tachypnea ORPHA:43116
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea OMIM:613834
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation ORPHA:90068
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Ethylene Glycol Poisoning
Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Malignant Hyperthermia Of Anesthesia
Tachypnea, Hypercapnia ORPHA:423
3-Hydroxy-3-Methylglutaric Aciduria
Tachypnea, Apnea ORPHA:20
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Atypical Werner Syndrome
Hepatic steatosis, Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistan... ORPHA:79474
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Joubert Syndrome 2
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608091
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea OMIM:615751
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ... ORPHA:90790
Joubert Syndrome 1
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:213300
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Tachypnea, Respiratory insufficiency OMIM:618278
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:610188
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea ORPHA:2754
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Pyruvate Carboxylase Deficiency
Tachypnea, Abnormal pattern of respiration ORPHA:3008
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99226
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema OMIM:613658
Histiocytoid Cardiomyopathy
Tachypnea, Cough ORPHA:137675
Double Outlet Left Ventricle
Tachypnea ORPHA:3427
Goodpasture Syndrome
Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional dyspnea OMIM:233450
Arima Syndrome
Dyspnea, Tachypnea OMIM:243910
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea ORPHA:415
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea ORPHA:2299
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoventilation OMIM:620275
Exercise-Induced Malignant Hyperthermia
Tachypnea, Crackles, Hypocapnia ORPHA:466650
Liver Disease, Severe Congenital
Hepatomegaly, Biliary hyperplasia, Abnormal circulating thyroid hormone concentration, Jaundice, ... OMIM:619991
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Scorpion Envenomation
Abnormal nasal mucus secretion, Tachypnea ORPHA:466677
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... ORPHA:258
Bethlem Myopathy
Hypoventilation, Reduced maximal expiratory pressure ORPHA:610
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea ORPHA:79330
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation OMIM:606056
Rabin-Pappas Syndrome
Tracheomalacia, Hypoventilation OMIM:620155
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypoventilation, Recurrent pneumonia OMIM:618493
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea OMIM:220111
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Truncus Arteriosus
Tachypnea ORPHA:3384
Charcot-Marie-Tooth Disease Type 4C
Hypoventilation, Respiratory insufficiency ORPHA:99949
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia ORPHA:2968
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... ORPHA:79318
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tracheomalacia, Hypoventilation OMIM:203700
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Asthma, Central hypoventilation, Cardiorespiratory arrest ORPHA:293987
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Respiratory failure, Recurrent pneumonia, Spontaneous pneumothorax ORPHA:731
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Aspiration pneumonia, Breathing dysregulation ORPHA:438213

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 Phpt1

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 Phpt1.

No publications found that use IMPC mice or data for Phpt1.

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
Phpt1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Phpt1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Phpt1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Phpt1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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