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Gene: Adcyap1r1 MGI:108449

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Gene Summary

Name:
adenylate cyclase activating polypeptide 1 receptor 1
Synonyms:
PAC1R,  2900024I10Rik,  PACAP1-R,  PAC1

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
preweaning lethality, incomplete penetrance Adcyap1r1tm1e.1(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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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  Wholemount images heterozygote 50% (2 of 4)
Bone  Wholemount images heterozygote Ambiguous
Brain  Wholemount images heterozygote 100% (4 of 4)
Cecum  Wholemount images heterozygote Ambiguous
Chest bone  Wholemount images heterozygote Ambiguous
Duodenum  Wholemount images heterozygote Ambiguous
Epididymis  Wholemount images heterozygote Not available
Gall bladder  Wholemount images heterozygote Ambiguous
Harderian gland  Wholemount images heterozygote Ambiguous
Ileum  Wholemount images heterozygote Ambiguous
Jejunum  Wholemount images heterozygote Ambiguous
Kidney  Wholemount images heterozygote Ambiguous
Large intestine  Wholemount images heterozygote Ambiguous
Lymph node  Wholemount images heterozygote 0.0% (0 of 4)
Main olfactory bulb  Wholemount images heterozygote Ambiguous
Mesenteric lymph node  Wholemount images heterozygote Ambiguous
Ovary  Wholemount images heterozygote Not available
Oviduct  Wholemount images heterozygote Not available
Parotid gland  Wholemount images heterozygote 0.0% (0 of 4)
Pituitary gland  Wholemount images heterozygote 0.0% (0 of 4)
Prostate gland  Wholemount images heterozygote Not available
Spinal cord  Wholemount images heterozygote 100% (4 of 4)
Spleen  Wholemount images heterozygote Ambiguous
Stomach  Wholemount images heterozygote Ambiguous
Sublingual gland  Wholemount images heterozygote 0.0% (0 of 4)
Submandibular gland  Wholemount images heterozygote 0.0% (0 of 4)
Testis  Wholemount images heterozygote 50% (2 of 4)
Thyroid gland  Wholemount images heterozygote Ambiguous
Tongue  Wholemount images heterozygote 100% (4 of 4)
Trigeminal V nerve  Wholemount images heterozygote 0.0% (0 of 4)
Urinary bladder  Wholemount images heterozygote Ambiguous
Uterus  Wholemount images heterozygote Not available
Vagina  Wholemount images heterozygote Not available
Vesicular gland  Wholemount images heterozygote Not available
Aorta N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Ambiguous
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Ambiguous
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote 100% (4 of 4)
Colon N/A heterozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Diaphragm 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)
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote 0.0% (0 of 4)
Hindlimb N/A heterozygote 0.0% (0 of 4)
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A heterozygote 100% (4 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Midbrain N/A heterozygote Ambiguous
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Oral epithelium 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)
Penis N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch 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 0.0% (0 of 4)
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote Ambiguous
Stomach pyloric region N/A heterozygote 0.0% (0 of 4)
Striatum N/A heterozygote 0.0% (0 of 4)
Thalamus N/A heterozygote Ambiguous
Thymus N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (6 of 6)
Head N/A heterozygote 100% (6 of 6)
Brain N/A heterozygote 100% (6 of 6)
Ear N/A heterozygote 0.0% (0 of 6)
Eye N/A heterozygote 0.0% (0 of 6)
Footplate N/A heterozygote 0.0% (0 of 6)
Forearm N/A heterozygote 0.0% (0 of 6)
Forebrain N/A heterozygote 0.0% (0 of 6)
Forelimb N/A heterozygote 0.0% (0 of 6)
Handplate N/A heterozygote 0.0% (0 of 6)
Heart N/A heterozygote 0.0% (0 of 6)
Hindbrain N/A heterozygote 100% (6 of 6)
Hindlimb N/A heterozygote 0.0% (0 of 6)
Liver N/A heterozygote 0.0% (0 of 6)
Lower leg N/A heterozygote 0.0% (0 of 6)
Lung N/A heterozygote 0.0% (0 of 6)
Mandibular process N/A heterozygote 0.0% (0 of 6)
Maxillary process N/A heterozygote 0.0% (0 of 6)
Midbrain N/A heterozygote 0.0% (0 of 6)
Oral cavity N/A heterozygote 0.0% (0 of 6)
Skin N/A heterozygote 0.0% (0 of 6)
Tail somite N/A heterozygote 0.0% (0 of 6)
Tail N/A heterozygote 0.0% (0 of 6)
Upper arm N/A heterozygote 0.0% (0 of 6)
Upper leg N/A heterozygote 0.0% (0 of 6)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
cranium
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Embryo LacZ

LacZ images wholemount

10 Images

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Adult LacZ

LacZ Images Wholemount

135 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Eye Morphology

Images Ophthalmoscopy

4 Images

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Human diseases caused by Adcyap1r1 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 Adcyap1r1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... ORPHA:280397
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Mannose-Binding Lectin Deficiency
Failure to thrive, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated... OMIM:614372
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... OMIM:601820
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Primary amenorrhea, Impaired glucose tolerance OMIM:615363
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Mental deterioration, Depression, Anxiety, Difficulty walking, Attention defic... OMIM:619191
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Anxiety, Inappropriate behavior, Falls, Memory impairment, Shuffling gait, Motor deterior... ORPHA:412066
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hyperinsulinemia, Hypergonad... ORPHA:66628
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Abnormal circulating hormone concentration, Insuli... ORPHA:280356
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... ORPHA:293964
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessive insulin res... ORPHA:324575
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Recurrent bacterial infections, Recurrent respiratory infections, Recurrent ot... OMIM:616022
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... OMIM:606762
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Primary amenorrhea, Delayed puberty, Delayed thelarche, Diabetes m... OMIM:616033
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, ... OMIM:613501
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... OMIM:300310
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... ORPHA:276580
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Athetosis, Dementia OMIM:615483
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea... ORPHA:3085
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Oligomenorrhea, Primary amenorrhea, Maternal diabete... OMIM:604367
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Huntington Disease-Like 1
Dysmetria, Depression, Anxiety, Aggressive behavior, Unsteady gait, Dementia OMIM:603218
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... ORPHA:276575
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Hyperostosis Frontalis Interna
Increased circulating prolactin concentration, Obesity, Irregular menstruation, Diabetes mellitus OMIM:144800
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Mody
Glucose intolerance, Hypoinsulinemia, Abnormal circulating insulin concentration, Hyperinsulinemi... ORPHA:552
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... OMIM:262190
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Leptin Deficiency Or Dysfunction
Recurrent upper respiratory tract infections, Primary amenorrhea, Decreased serum leptin, Recurre... OMIM:614962
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, H... ORPHA:79237
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Recurrent cutaneous fungal infections, Recurrent ... OMIM:613953
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections OMIM:614868
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity, Hyperinsulinemia, Increased serum leptin OMIM:617885
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Ovarian Dysgenesis 4
Decreased serum estradiol, Decreased body weight, Primary amenorrhea, Elevated circulating follic... OMIM:616185
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Primary amenorrhea, Absen... ORPHA:785
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... ORPHA:276556
Congenital Generalized Lipodystrophy
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Oligomenorrhea, D... ORPHA:528
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency OMIM:311360
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... OMIM:611521
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Premature Ovarian Failure 9
Amenorrhea, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:615724
Familial Hyperprolactinemia
Amenorrhea, Infertility, Oligomenorrhea, Menorrhagia, Female hypogonadism ORPHA:397685
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Hypersecretion Of Adrenal Androgens, Familial
Amenorrhea, Premature pubarche, Increased circulating androgen concentration, Adrenal overactivity OMIM:145295
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Recurrent... OMIM:605258
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Increased serum testosterone level, Glucose intolerance, Hyperinsulin... ORPHA:2298
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Meningitis, Recurrent pneumonia, Recurrent otitis media, Recurren... OMIM:613500
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... ORPHA:275
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Glycosuria, Neonatal h... ORPHA:263455
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia OMIM:613494
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Pancr... OMIM:246200
Thymic Aplasia
Recurrent candida infections, Failure to thrive, Recurrent streptococcus pneumoniae infections, R... ORPHA:83471
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Shuffling gait, Aggressi... ORPHA:3077
Pituicytoma
Amenorrhea, Abnormality of the pituitary gland, Impotence, Decreased serum testosterone concentra... ORPHA:251623
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Failure to thrive, Recurrent fungal infections, Recurrent bacteri... OMIM:209920
Alstrom Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... OMIM:203800
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Premature Ovarian Failure 18
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Irregular menstruation, ... OMIM:619203
Immunodeficiency, Common Variable, 3
Recurrent sinusitis, Recurrent bacterial infections, Recurrent respiratory infections, Recurrent ... OMIM:613493
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... ORPHA:52901
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia ORPHA:363400
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Narcolepsy 7
Narcolepsy, Type II diabetes mellitus, Obesity OMIM:614250
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Recurrent sinusitis, Meningitis, Recurrent bronchitis, Recurrent ... OMIM:240500
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media OMIM:612692
Prader-Willi Syndrome
Adrenal insufficiency, Infertility, Abdominal obesity, Type II diabetes mellitus, Hyperinsulinemi... OMIM:176270
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent candida infections, Failure to thrive, Recurrent fungal... ORPHA:572
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Weight loss, Hypoinsulinemia ORPHA:2126
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility, Elevated circulating follicle stimulating hormone... OMIM:617442
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Failure to thrive, Recurrent bacterial skin infections, Chronic oral candidiasis, Recurrent cutan... ORPHA:276
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
Mpi-Cdg
Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycemia ORPHA:79319
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent otitis media OMIM:613502
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Decreased response to growth hormone stimulation test, Enteroviral dermatomyositis s... OMIM:307200
Perrault Syndrome 6
Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary amenorrhea, Premature ovarian... OMIM:617565
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections ORPHA:169079
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent fungal infections, Chronic oral candidiasis, Recurrent bacterial infections, Severe var... OMIM:606367
Specific Granule Deficiency 2
Failure to thrive, Recurrent bacterial infections, Sepsis, Recurrent pneumonia, Recurrent otitis ... OMIM:617475
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent otitis media, Recurrent tonsillitis, Pulmonary tuberculosis, Severe infection, Sepsis, ... ORPHA:183675
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Recurrent sinusitis, Recurrent bronchitis, Recurrent pneumonia, R... OMIM:607594
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Failure to thrive, Recurrent upper and lower respiratory trac... ORPHA:911
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections OMIM:608106
Complement Factor B Deficiency
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections OMIM:615561
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent uppe... OMIM:608184
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Recurrent bacterial infections, Recurrent sinusitis, Recurrent pneum... OMIM:243700
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Mandibuloacral Dysplasia
Insulin resistance, Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Insulin resistance, ... ORPHA:79085
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Retrograde ejaculation, Hyperinsulinemia, Insulin resistance ORPHA:230
Selective Igm Deficiency
Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Severe viral infection,... ORPHA:331235
Omenn Syndrome
Failure to thrive, Recurrent fungal infections, Recurrent bacterial infections, Hypoplasia of the... OMIM:603554
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Recurrent pneumonia, Recurrent infections, Insulin resistance OMIM:613327
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... ORPHA:3464
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... ORPHA:276152
Mirage Syndrome
Adrenal insufficiency, Decreased body weight, Hypergonadotropic hypogonadism, Sepsis, Recurrent u... OMIM:617053
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Insulin resis... ORPHA:769
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608612
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Recurrent fungal infections, Recurrent infections, Helicobacter p... ORPHA:2688
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsuline... ORPHA:71212
Prolactinoma
Impotence, Dyspareunia, Decreased fertility in males, Central adrenal insufficiency, Erectile dys... ORPHA:2965
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia OMIM:602579
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613496
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Non-Functioning Pituitary Adenoma
Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp... ORPHA:91349
Functioning Gonadotropic Adenoma
Amenorrhea, Infertility, Adrenocorticotropic hormone deficiency, Impotence, Abnormal prolactin le... ORPHA:91348
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Recurrent bacterial infections, Failure to thrive OMIM:618048
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fungal infections, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Recurrent St... OMIM:147060
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Sepsis, Recurrent bacterial infe... ORPHA:169090
Atypical Werner Syndrome
Failure to thrive, Type II diabetes mellitus, Hyperinsulinemia, Decreased body weight, Glycosuria... ORPHA:79474
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Recurrent bacterial infections, Recurrent sinusitis, Recurrent pneumonia, Recu... OMIM:601495
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Recurrent bacterial infections, Recurrent opportunistic infections, Recurrent ... OMIM:613179
Immune Deficiency Disease
Recurrent viral infections, Recurrent bacterial infections OMIM:242850
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
46,Xy Sex Reversal 1
Elevated circulating luteinizing hormone level, Primary amenorrhea, Abnormality of the menstrual ... OMIM:400044
Acquired Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:79086
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent ear ... ORPHA:486
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Recurrent bacterial infections OMIM:619693
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Cachexia, Recurrent Haemophilus influenzae infections ORPHA:60033
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Failure to thrive, Recurrent upper and lower respiratory tract infections, Recurrent fungal infec... ORPHA:331206
Lipodystrophy, Congenital Generalized, Type 2
Type II diabetes mellitus, Hyperinsulinemia, Decreased serum leptin, Decreased fertility in femal... OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Decreased serum leptin, Decreased fertility in females, Insulin-resistant diabe... OMIM:608594
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Chronic oral candidiasis, Sepsis, Recurrent bacterial infections, Enteroviral ... OMIM:308230
Complement Factor I Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent urinary tract infections, Recurrent meni... OMIM:610984
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Vici Syndrome
Failure to thrive, Recurrent fungal infections, Recurrent bacterial infections, Chronic mucocutan... OMIM:242840
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Leprechaunism
Postprandial hyperglycemia, Failure to thrive, Hyperinsulinemia, Decreased body weight, Insulin r... ORPHA:508
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose tolerance OMIM:248370
Lipodystrophy, Familial Partial, Type 2
Type II diabetes mellitus, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:151660
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Female infertility, Male infertility, Recurrent otitis media,... ORPHA:244
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Immunodeficiency 36
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent lower res... OMIM:616005
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Recurrent staphylococcal infections, Chronic mucocutaneous candid... OMIM:116920
Turner Syndrome Due To Structural X Chromosome Anomalies
Thyroiditis, Glucose intolerance, Type II diabetes mellitus, Female infertility, Hyperinsulinemia... ORPHA:99413
Turner Syndrome
Thyroiditis, Glucose intolerance, Type II diabetes mellitus, Female infertility, Hyperinsulinemia... ORPHA:881
Mosaic Monosomy X
Thyroiditis, Glucose intolerance, Type II diabetes mellitus, Female infertility, Hyperinsulinemia... ORPHA:99228
Monosomy X
Thyroiditis, Glucose intolerance, Type II diabetes mellitus, Female infertility, Hyperinsulinemia... ORPHA:99226
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:233710
Immunodeficiency 23
Failure to thrive, Severe varicella zoster infection, Recurrent staphylococcal infections, Chroni... OMIM:615816
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Recurrent bacterial infections, Irregular menstruation, Menorrhagia, Hypothyro... ORPHA:79259
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Leukocyte Adhesion Deficiency
Recurrent fungal infections, Hyperinsulinemic hypoglycemia, Chronic oral candidiasis, Recurrent t... ORPHA:2968
Tsh-Secreting Pituitary Adenoma
Impotence, Decreased fertility in males, Central adrenal insufficiency, Increased circulating pro... ORPHA:91347
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:233690
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Aplasia/Hypoplasia of the thymus, Failure to thrive, Abnormality ... ORPHA:2176
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Abnormal response to ... ORPHA:90794
Pgm3-Cdg
Failure to thrive, Recurrent fungal infections, Sepsis, Recurrent bacterial infections, Recurrent... ORPHA:443811
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Recurrent fungal infections, Aplasia of the thymus, Recurrent bacterial infect... OMIM:102700
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, Decreased serum t... ORPHA:273
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Congenital hypoparathyroidism, Recurrent bacterial infections, Decreased response to growth hormo... OMIM:241410
Kenny-Caffey Syndrome, Type 1
Congenital hypoparathyroidism, Recurrent bacterial infections OMIM:244460
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Hypoplasia of the thymus, Recurrent urinary tract infections, Sepsis, Recurren... OMIM:612541
Postinfectious Vasculitis
Recurrent candida infections, Recurrent mycobacterial infections, Recurrent streptococcus pneumon... ORPHA:48435
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis ORPHA:36412
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Recurrent bacterial infections, Recurrent ... ORPHA:221139
Shwachman-Diamond Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Sepsis, Recurrent bacte... ORPHA:811
Sickle Cell Anemia
Recurrent bacterial infections, Priapism OMIM:603903
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Recurrent bacterial infections, Recurrent pneumonia, Recurrent otitis m... OMIM:608233
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:306400
Glycogen Storage Disease Ib
Hypoglycemia, Recurrent bacterial infections, Delayed puberty OMIM:232220
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum OMIM:300291
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent bacterial infections, Recurrent streptococcal infe... ORPHA:167
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Recurrent bacterial infections OMIM:615895
Chromomycosis
Recurrent bacterial infections ORPHA:182
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Immunodeficiency 47
Failure to thrive, Recurrent bacterial infections, Recurrent infections OMIM:300972
Immunodeficiency 87 And Autoimmunity
Recurrent fungal infections, Small for gestational age, Sepsis, Recurrent bacterial infections, S... OMIM:619573
Whim Syndrome
Sepsis, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Meningitis,... ORPHA:51636
Alström Syndrome
Hyperinsulinemia, Decreased fertility in males, Hypergonadotropic hypogonadism, Puberty and gonad... ORPHA:64
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Recurrent infections OMIM:214500
Liver Disease, Severe Congenital
Failure to thrive, Hyperinsulinemic hypoglycemia, Sepsis, Recurrent urinary tract infections, Rec... OMIM:619991
Lysinuric Protein Intolerance
Failure to thrive, Recurrent bacterial infections, Decreased response to growth hormone stimulati... ORPHA:470
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Failure to thrive, Recurrent bacterial infections, Recurrent infections, Recurrent respiratory in... ORPHA:2273
Pmm2-Cdg
Failure to thrive, Hyperinsulinemia, Elevated circulating growth hormone concentration, Hypogonad... ORPHA:79318
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections ORPHA:642

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 Adcyap1r1

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 Adcyap1r1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Targeted deletion of PAC1 receptors in retinal neurons enhances neuron loss and axonopathy in a model of multiple sclerosis and optic neuritis. Neurobiology of disease (October 2021) Adcyap1r1tm1c(KOMP)Wtsi Adcyap1r1tm1a(KOMP)Wtsi 34610465
A Basomedial Amygdala to Intercalated Cells Microcircuit Expressing PACAP and Its Receptor PAC1 Regulates Contextual Fear. The Journal of neuroscience : the official journal of the Society for Neuroscience (February 2021) Adcyap1r1tm1c(KOMP)Wtsi PMC8051692

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MGI Allele Allele Type Produced
Adcyap1r1tm1e(KOMP)Wtsi Targeted, non-conditional allele Mice, ES Cells
Adcyap1r1tm1e.1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Adcyap1r1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Adcyap1r1tm91952(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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