Gene Summary

Name:
poly (ADP-ribose) polymerase family, member 12
Synonyms:
Zc3hdc1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bronchoconstrictive response Parp12tm1.1(KOMP)Vlcg HOM Early adult 5.45×10-09
increased basophil cell number Parp12tm1.1(KOMP)Vlcg HOM   Early adult 1.99×10-07
increased mean platelet volume Parp12tm1.1(KOMP)Vlcg HOM Early adult 2.85×10-07
decreased pulmonary ventilation Parp12tm1.1(KOMP)Vlcg HOM Early adult 1.89×10-06
increased pulmonary respiratory rate Parp12tm1.1(KOMP)Vlcg HOM Early adult 1.10×10-06
small testis Parp12tm1.1(KOMP)Vlcg HOM Early adult 0.00
female infertility Parp12tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal testis morphology Parp12tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased neutrophil cell number Parp12tm1.1(KOMP)Vlcg HOM Early adult 8.06×10-07

Download data as:  TSV  XLS

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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
Duodenum  Section images heterozygote 25% (1 of 4)
Epididymis  Section images heterozygote 50% (2 of 4)
Gall bladder  Wholemount images heterozygote 50% (2 of 4)
Ileum  Section images heterozygote 50% (2 of 4)
Kidney  Wholemount images  Section images heterozygote 100% (4 of 4)
Oviduct  Section images heterozygote 25% (1 of 4)
Stomach  Section images heterozygote 25% (1 of 4)
Testis  Wholemount images  Section images heterozygote 25% (1 of 4)
Vas deferens  Section images heterozygote 50% (2 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)
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)
Harderian gland 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 50% (2 of 4)
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)
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 75% (3 of 4)
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
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)
Thyroid gland 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 0.0%
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.

Adult LacZ

LacZ Images Section

18 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

3 Images

Human diseases caused by Parp12 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 Parp12 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Epistaxis, Giant platelets, Neutrophil inclusion bodies, Macrothrombo... OMIM:155100
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume OMIM:615193
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant platelets, Neutrophil inc... ORPHA:182050
Bernard-Soulier Syndrome
Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopen... OMIM:231200
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... OMIM:314050
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Asthma, Recurrent pneum... OMIM:617585
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... OMIM:617443
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Macrothrombocytopenia, Anemia, Menorrhagia, Thrombocytopenia OMIM:616176
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... OMIM:153670
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Menorrhagia, Thrombocytopenia OMIM:124900
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Increased circulating procalcitonin concentration, Diabetes mellitus, Neutr... ORPHA:36238
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
High Altitude Pulmonary Edema
Orthopnea, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough ORPHA:330012
Bernard-Soulier Syndrome
Spontaneous, recurrent epistaxis, Asthma, Giant platelets, Macrothrombocytopenia, Decreased plate... ORPHA:274
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Tachypnea, Normochromic anemia, Neutropenia, Pulmonary arterial hypertension, Thr... OMIM:614857
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO OMIM:616414
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter, Wheezing, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Rhinorrhea OMIM:617577
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... OMIM:300770
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Bronchiectasis, Decreased basophil count, Decreased proportion of mem... OMIM:618394
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Dyspnea, Erythroid hypopla... ORPHA:98826
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Dyspne... ORPHA:1302
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... ORPHA:231401
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Multifocal Atrial Tachycardia
Dyspnea, Tachypnea, Hypothyroidism, Cryptorchidism ORPHA:3282
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Decreased mean platelet volume OMIM:273900
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Decreased response to growth hormone stimula... OMIM:610978
Propionic Acidemia
Pancytopenia, Apnea, Tachypnea, Anemia, Neutropenia, Thrombocytopenia OMIM:606054
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Takenouchi-Kosaki Syndrome
Cryptorchidism, Thrombocytopenia, Hypospadias, Increased mean platelet volume OMIM:616737
Cardiomyopathy, Dilated, 2H
Tachypnea, Cardiorespiratory arrest OMIM:620203
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility, Reduced forced vital capacity, Mitochondrial... OMIM:619518
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Cryptorchidism, Giant platelets, Anemia, Thrombocytopenia OMIM:611209
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Maternal diabetes ORPHA:45452
Diethylstilbestrol Syndrome
Central apnea, Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertilit... ORPHA:1916
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Joubert Syndrome 7
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:611560
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Tachypnea, Spherocytosis, Hep... ORPHA:71275
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Thrombocytopenia ORPHA:79242
Cardiocranial Syndrome, Pfeiffer Type
Cryptorchidism, Micropenis, Hypospadias, Episodic tachypnea ORPHA:2872
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induced platelet aggregation, ... OMIM:614201
Pneumocystosis
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug... ORPHA:723
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Immunodeficiency 32B
Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... OMIM:226990
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... ORPHA:2257
Primary Ciliary Dyskinesia
Male infertility, Neonatal respiratory distress, Abnormal sperm motility, Female infertility, Pro... ORPHA:244
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea OMIM:620085
Thrombocytopenia 5
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... OMIM:616216
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, B lymphocytopenia, Recurrent sinusi... OMIM:619281
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Thrombocytopenia 1
Congenital thrombocytopenia, Epistaxis, Decreased mean platelet volume, Intermittent thrombocytop... OMIM:313900
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... ORPHA:217563
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Anemia OMIM:615838
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Respiratory failure, Tachypnea, Respiratory insufficiency OMIM:614299
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Holocarboxylase Synthetase Deficiency
Tachypnea, Thrombocytopenia, Hyperventilation OMIM:253270
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Impotence, Pleural e... OMIM:235200
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean OMIM:604320
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia OMIM:618165
Lathosterolosis
Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikil... OMIM:607330
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... OMIM:610921
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... OMIM:265120
Trichohepatoenteric Syndrome 1
Splenomegaly, Thrombocytosis, Hypospadias, Increased mean platelet volume OMIM:222470
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Sting-Associated Vasculopathy, Infantile-Onset
Tachypnea, Leukopenia, Thrombocytosis, Lymphopenia, Anemia OMIM:615934
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ... OMIM:150550
Hyperparathyroidism, Neonatal Severe
Dyspnea, Splenomegaly, Primary hyperparathyroidism, Tachypnea, Elevated circulating parathyroid h... OMIM:239200
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Testicular atrophy, Thrombocytopenia OMIM:613987
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... OMIM:614172
Atypical Rett Syndrome
Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:3095
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Tachypnea, Respiratory insufficien... OMIM:618278
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopen... ORPHA:84064
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Reduction of neutrophil motility OMIM:266265
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Myotonic Dystrophy 1
Respiratory distress, Cholelithiasis, Hypogonadism, Testicular atrophy OMIM:160900
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, Absence of alpha granules, Im... OMIM:187900
Pyruvate Dehydrogenase Deficiency
Dyspnea, Tachypnea ORPHA:765
Joubert Syndrome 3
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608629
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Tachypnea, Cough ORPHA:134
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Abscess, Tachypnea, Increased circulating myelocyte c... ORPHA:36234
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Abnormality of the endocrine system, Thrombocytopenia, Hypospadias, Increased mean platelet volume ORPHA:487796
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Respiratory failure, Myelo... ORPHA:3226
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormal testis morphology, Anemia ORPHA:54251
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Citrullinemia Type I
Tachypnea ORPHA:247525
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Recurrent pneumonia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... OMIM:618849
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... OMIM:222300
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea OMIM:613320
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Leukocytosis, Tachypnea, Leukopenia, Thrombocytosis, Anemia ORPHA:20
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea, Cryptorchidism OMIM:613834
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Tachypnea OMIM:201475
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Relapsing Fever
Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Cough, Anemia ORPHA:91547
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Joubert Syndrome With Oculorenal Defect
Abnormality of the hypothalamus-pituitary axis, Tachypnea, Apnea ORPHA:2318
Biotinidase Deficiency
Splenomegaly, Tachypnea, Apnea OMIM:253260
Coronary Arterial Fistula
Orthopnea, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea ORPHA:2041
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea ORPHA:26793
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Pleural eff... OMIM:619644
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea, Maternal diabetes ORPHA:860
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... ORPHA:1329
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Neutropenia, Anemia ORPHA:88
Joubert Syndrome
Abnormality of the hypothalamus-pituitary axis, Apnea, Episodic tachypnea, Abnormal pattern of re... ORPHA:475
Ganglioneuroma
Neoplasm of the adrenal gland, Abnormality of the adrenal glands, Central hypoventilation, Abnorm... ORPHA:251992
Double Outlet Right Ventricle
Hypoparathyroidism, Tachypnea, Aplasia/Hypoplasia of the thymus ORPHA:3426
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea, External genital hypoplasia, Hepatosplenomegaly, Hy... ORPHA:79330
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Obesity-Hypoventilation Syndrome
Hypoventilation OMIM:257500
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hypospadias, Apnea, Supernumerary nipple, Tachypnea, Recurrent aspiration pneumonia, Chronic lung... ORPHA:397715
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Double Outlet Left Ventricle
Cryptorchidism, Tachypnea ORPHA:3427
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Breathing dysregulation OMIM:618232
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Perry Syndrome
Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency OMIM:168605
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Splenomegaly, Infertility, Erec... ORPHA:465508
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Cholera
Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Small scrotum, Tachypnea, Respiratory insufficiency, Respiratory failure, Bile duct... OMIM:613658
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmonary arteria... ORPHA:99106
Orofaciodigital Syndrome Type 6
Bilateral cryptorchidism, Apnea, Episodic tachypnea ORPHA:2754
Herpes Simplex Virus Encephalitis
Respiratory failure requiring assisted ventilation, Leukocytosis, Neutrophilia ORPHA:1930
Joubert Syndrome 2
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation, Hypoplastic male external ge... OMIM:608091
Postpoliomyelitis Syndrome
Hypoventilation, Respiratory insufficiency ORPHA:2942
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Dyspnea, Leukocytosis, Neutropenia ORPHA:293173
Serotonin Syndrome
Tachypnea ORPHA:43116
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea OMIM:617143
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation ORPHA:90068
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Adult-Onset Still Disease
Splenomegaly, Restrictive ventilatory defect, Leukocytosis, Neutrophilia ORPHA:829
Ethylene Glycol Poisoning
Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Prader-Willi Syndrome
Hypoventilation, Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormo... OMIM:176270
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Arima Syndrome
Dyspnea, Tachypnea, Anemia OMIM:243910
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea OMIM:615751
Joubert Syndrome 1
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:213300
Goodpasture Syndrome
Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Anemia, Exertional dy... OMIM:233450
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Splenomegaly, Neutrophilia, Abscess OMIM:612852
Malignant Hyperthermia Of Anesthesia
Tachypnea, Hypercapnia ORPHA:423
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation OMIM:209880
Histiocytoid Cardiomyopathy
Polycystic ovaries, Tachypnea, Cough ORPHA:137675
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia, Tachypnea, Crackles, Hypocapnia ORPHA:466650
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia OMIM:300322
Pyruvate Carboxylase Deficiency
Tachypnea, Abnormal pattern of respiration ORPHA:3008
Familial Mediterranean Fever
Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Pleural effusion OMIM:249100
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Scorpion Envenomation
Abnormal nasal mucus secretion, Tachypnea, Priapism ORPHA:466677
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:610188
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea, Hypoplastic male external genitalia ORPHA:2751
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Neutrophilia, Eosinophilia, Pulmonary embolism, Dyspnea, Asthma, Leukocytos... ORPHA:3260
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea ORPHA:415
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation, Hypoplastic female external genitalia OMIM:606056
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea ORPHA:2299
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoventilation OMIM:620275
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Endometrial carcinoma, Diabetes mellitus, Hyp... ORPHA:273
Bethlem Myopathy
Hypoventilation, Reduced maximal expiratory pressure ORPHA:610
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... ORPHA:258
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Truncus Arteriosus
Adrenocortical abnormality, Tachypnea, Hypoplasia of the thymus ORPHA:3384
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... ORPHA:3243
Rabin-Pappas Syndrome
Tracheomalacia, Hypoventilation OMIM:620155
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypoventilation, Recurrent pneumonia OMIM:618493
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c... ORPHA:99226
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea, Hypospadias OMIM:220111
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Abnormality of the endocrine system, Cryptorchid... ORPHA:438213
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Biliary hyperplasia, Pancreatic cysts, Hypersplenism, ... ORPHA:731
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Epistaxis, Orchitis, Thrombocytopenia, Leukocytosis, Epididymitis, Sp... ORPHA:99827
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Decreased response to growth hormone stimulation test, Central hypoventilation, ... ORPHA:293987
Charcot-Marie-Tooth Disease Type 4C
Hypoventilation, Respiratory insufficiency ORPHA:99949
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tracheomalacia, Hypoventilation, Bile duct proliferation OMIM:203700

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 Parp12

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 Parp12.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
PARP12 is required to repress the replication of a Mac1 mutant coronavirus in a cell- and tissue-specific manner. Journal of virology (September 2023) Parp12tm1.1(KOMP)Vlcg PMC10537751

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Parp12tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Parp12tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Parp12tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Parp12tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Parp12tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Parp12tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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