Gene Summary

Name:
G-protein signalling modulator 1 (AGS3-like, C. elegans)
Synonyms:
1810037C22Rik,  Ags3

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
abnormal heart morphology Gpsm1tm2b(KOMP)Wtsi HOM Early adult 0.00
decreased bronchoconstrictive response Gpsm1tm2b(KOMP)Wtsi HOM Early adult 1.54×10-05
abnormal skin morphology Gpsm1tm2b(KOMP)Wtsi HOM Early adult 0.00
enlarged heart Gpsm1tm2b(KOMP)Wtsi HOM Early adult 0.00
abnormal kidney morphology Gpsm1tm2b(KOMP)Wtsi HOM Early adult 0.00
decreased pulmonary ventilation Gpsm1tm2b(KOMP)Wtsi HOM Early adult 2.51×10-10

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
Aorta  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
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 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
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 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
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

47 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Gpsm1 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 Gpsm1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Obesity Due To Sim1 Deficiency
Obesity, Abnormal autonomic nervous system physiology, Attention deficit hyperactivity disorder, ... ORPHA:369873
Ethanolaminosis
Cardiomegaly OMIM:227150
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Attrv30M Amyloidosis
Atrioventricular block, Weight loss, Cardiomyopathy, Abnormal autonomic nervous system physiology... ORPHA:85447
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss OMIM:605543
Riboflavin Transporter Deficiency
Optic disc pallor, Facial palsy, Cachexia, Aggressive behavior, Hypertension, Abnormal autonomic ... ORPHA:97229
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Mitchell Syndrome
Abnormal autonomic nervous system physiology, Dysphagia OMIM:618960
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Aganglionic megacolon, Flexion contracture, Interphalangeal thumb joint contracture,... OMIM:613870
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... ORPHA:101016
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Bradycardia, Arrhythm... ORPHA:330001
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... ORPHA:85451
Persistent Idiopathic Facial Pain
Abnormal autonomic nervous system physiology ORPHA:398147
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology, Attention deficit hyperactivity disorder OMIM:617935
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology, Impulsivity ORPHA:101046
Multiple System Atrophy, Cerebellar Type
Raynaud phenomenon, Neuromuscular dysphagia, Orthostatic syncope, Abnormal autonomic nervous syst... ORPHA:227510
Multiple System Atrophy
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... ORPHA:102
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Congenital Myopathy 8
Reduced vital capacity, Respiratory insufficiency, Cardiomegaly OMIM:618654
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology, Aggressive behavior ORPHA:329284
Multiple System Atrophy, Parkinsonian Type
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... ORPHA:98933
Tetanus
Tachycardia, Dysphagia, Hypertension, Abnormal autonomic nervous system physiology, Bradycardia, ... ORPHA:3299
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... OMIM:620135
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Hepatomegaly, Cardiomegaly, Pericardial effus... ORPHA:555874
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Exertional dyspnea ORPHA:615
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Fixed Subaortic Stenosis
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Abnormal hear... ORPHA:3092
Pure Autonomic Failure
Orthostatic hypotension, Syncope, Abnormal autonomic nervous system physiology ORPHA:441
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Arrhythmia, Abnormal autonomic nervous system physiology, Cardiac arrest ORPHA:168593
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Respiratory arrest, Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:600649
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Autonomic bladder dysfunction, Autonomic erectile dysfunction, Orthostatic hypotension due to aut... OMIM:169500
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia, Joint ... OMIM:614498
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Weight loss, Reduced left ventricula... ORPHA:85443
Fatal Familial Insomnia
Weight loss, Abnormal autonomic nervous system physiology, Dysphagia OMIM:600072
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Melena, Palpitations, ... ORPHA:100080
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Restrictiv... ORPHA:99931
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Corneal scarring, Abnormal autonomic nervous system physiology, Postural hypotensi... OMIM:256800
Infantile Neuroaxonal Dystrophy
Hyperactivity, Impulsivity, Flexion contracture, Optic atrophy, Abnormal autonomic nervous system... ORPHA:35069
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Arthrogryposis multiplex congenita, Aganglionic megacolon, Abnormal autonomic nervous system phys... OMIM:243180
Coronary Arterial Fistula
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr... ORPHA:2041
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Recurrent hand flapping, Agitation, Abnormal autonomic nervous system physiology, Bruxism OMIM:617903
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Endocard... OMIM:212140
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, ... OMIM:115197
Congenital Myopathy 21 With Early Respiratory Failure
Hypertrophic cardiomyopathy, Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Parkinsonism-Dystonia 2, Infantile-Onset
Abnormal autonomic nervous system physiology OMIM:618049
Variant Abeta2M Amyloidosis
Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology ORPHA:314652
Erythermalgia, Primary
Abnormal autonomic nervous system physiology, Palpitations OMIM:133020
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Haddad Syndrome
Small for gestational age, Failure to thrive, Aganglionic megacolon, Abnormal autonomic nervous s... ORPHA:99803
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Hematochezia, Melena, ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Hematochezia, Melena, ... ORPHA:100082
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Pleural effusion, Cardiomegaly OMIM:614702
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Nephrotic syndrome, Cardiomegaly OMIM:269920
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Analbuminemia
Lipodystrophy, Hypotension OMIM:616000
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Rett Syndrome
Agitation, Abnormal autonomic nervous system physiology, Failure to thrive, Abnormal repetitive m... ORPHA:778
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype... OMIM:301500
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Paten... ORPHA:439
Congenital Tracheomalacia
Apnea, Cardiomegaly, Decreased peak expiratory flow, Cough, Atrial septal defect, Emphysema, Sing... ORPHA:95430
Alpha-N-Acetylgalactosaminidase Deficiency
Recurrent pneumonia, Oligosacchariduria, Cardiomegaly ORPHA:3137
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracranial hemorrhage, ... ORPHA:449285
Alexander Disease Type Ii
Abnormal autonomic nervous system physiology, Dysphagia ORPHA:363722
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Failure to thrive, Hypotension ORPHA:556037
Neurodegeneration With Brain Iron Accumulation 5
Abnormal autonomic nervous system physiology, Aggressive behavior OMIM:300894
Nipah Virus Disease
Hypotension, Anorexia ORPHA:99825
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Weight loss, Syncope, Abnormal autonomic nervous system phy... ORPHA:71273
Pseudo-Torch Syndrome 3
Proteinuria, Apnea, Cardiomegaly, Respiratory insufficiency, Acute kidney injury OMIM:618886
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria, Tachypnea, Res... OMIM:201475
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... OMIM:256550
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsi... ORPHA:2131
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... OMIM:300280
Timothy Syndrome
Ventricular septal defect, Pneumonia, Cardiomegaly, Pulmonary arterial hypertension, Tetralogy of... OMIM:601005
Fragile X-Associated Tremor/Ataxia Syndrome
Dysphagia, Hypertension, Abnormal autonomic nervous system physiology, Compulsive behaviors, Hypo... ORPHA:93256
Complete Atrioventricular Septal Defect
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal de... ORPHA:1329
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Palpitations, Facial t... ORPHA:97287
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... OMIM:252920
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Failure to thrive, Hypotension ORPHA:556030
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... ORPHA:66529
Alexander Disease
Facial palsy, Sudden cardiac death, Hypertension, Self-injurious behavior, Abnormal autonomic ner... ORPHA:58
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exerti... ORPHA:42
Mulibrey Nanism
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly OMIM:253250
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Posttransplant Acute Limbic Encephalitis
Abnormal autonomic nervous system physiology ORPHA:163921
Obesity-Hypoventilation Syndrome
Hypoventilation OMIM:257500
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Cardiomeg... ORPHA:308552
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Pleural effusion OMIM:235200
Caribbean Parkinsonism
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction ORPHA:97355
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Pleural effusion, Hypertrophic ... OMIM:616897
Leukodystrophy, Hypomyelinating, 12
Flexion contracture, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:616683
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Multiple joint contractures, Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:466934
Porphyria Variegata
Hypertension, Tachycardia, Scarring, Abnormal autonomic nervous system physiology ORPHA:79473
Tremor-Ataxia-Central Hypomyelination Syndrome
Optic atrophy, Autonomic bladder dysfunction, Dysphagia ORPHA:447896
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Dysphagia, Hypertension, Agitation, Bradycardia, Hypotension, Ab... ORPHA:94093
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto... OMIM:105210
Young-Onset Parkinson Disease
Restless legs, Agitation, Abnormal autonomic nervous system physiology, Impulsivity ORPHA:2828
Familial Aortic Dissection
Paroxysmal dyspnea, Cardiomegaly, Exertional dyspnea ORPHA:229
Neuroendocrine Tumor Of Stomach
Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematemesis, Weight loss, Melena, P... ORPHA:100075
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Abnormal autonomic nervous system physiology ORPHA:83601
Muscular Dystrophy, Duchenne Type
Hypoventilation, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Restri... OMIM:310200
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:231550
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defe... OMIM:306955
Inherited Creutzfeldt-Jakob Disease
Vestibular nystagmus, Abnormal autonomic nervous system physiology ORPHA:282166
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Hypotension OMIM:203400
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Failure to thrive, Cerebral hemorrhage OMIM:263400
Machado-Joseph Disease
Abnormal autonomic nervous system physiology, Dysphagia OMIM:109150
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly OMIM:614473
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Failure to thrive, Hypotension OMIM:264350
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormal auditory evoked potentials, Flexion contracture, Abnormal auton... ORPHA:99027
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly OMIM:255120
Refsum Disease, Classic
Cardiomyopathy, Abnormal renal physiology, Cardiomegaly OMIM:266500
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Renal insufficiency, Dicarboxylic aciduria, Cardiome... ORPHA:228308
Infant Botulism
Cardiac arrest, Anorexia, Hypertension, Hypotension, Dysphagia ORPHA:178478
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Neonatal respiratory distress, Ureteral duplication, Apnea, Renal insufficiency, Lo... OMIM:608836
Ramos-Arroyo Syndrome
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Decreased body weight, Sever... ORPHA:1051
Serotonin Syndrome
Restlessness, Tachycardia, Hypertension, Agitation, Hypotension, Abnormality of the autonomic ner... ORPHA:43116
Parkinson Disease, Late-Onset
Abnormal autonomic nervous system physiology, Dysphagia OMIM:168600
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Breathing dysregulation OMIM:618232
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea, Cardiomegaly OMIM:613320
Mogs-Cdg
Respiratory distress, Hypoventilation, Hepatomegaly, Apnea, Cardiomegaly, Hepatosplenomegaly, Atr... ORPHA:79330
Hydroxykynureninuria
Tachycardia, Abnormal repetitive mannerisms, Hypotension ORPHA:79155
Perry Syndrome
Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency OMIM:168605
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... ORPHA:363705
Familial Hypoaldosteronism
Orthostatic hypotension, Failure to thrive, Hypovolemia, Hypotension ORPHA:427
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly OMIM:208000
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology OMIM:614575
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Asp... ORPHA:314655
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Hypotension OMIM:177735
Melkersson-Rosenthal Syndrome
Abnormal autonomic nervous system physiology, Facial palsy ORPHA:2483
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Cardiomegaly ORPHA:391428
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hypoxemia, Hematuria OMIM:603903
Beta-Ketothiolase Deficiency
Anorexia, Weight loss, Hypertension, Agitation, Hypotension, Oral aversion ORPHA:134
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Absence Of The Pulmonary Artery
Orthopnea, Cardiomegaly, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Abnor... ORPHA:980
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal autonomic nervous system physiology, Dysphagia, Abnormal cranial nerve morphology ORPHA:247234
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Weight loss, Hypotension, Arrhythmia ORPHA:188
Meningococcal Meningitis
Shock, Papilledema, Hypotension, Anorexia ORPHA:33475
Mercury Poisoning
Hypertension, Tachycardia, Hypotension, Anorexia ORPHA:330021
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen co... OMIM:261740
Glycogen Storage Disease Ii
Hepatomegaly, Urinary incontinence, Cardiomegaly, Respiratory insufficiency due to muscle weaknes... OMIM:232300
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Anorexia, Cachexia, Myocarditis... ORPHA:3452
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Elevated pulmonary artery pressure, Left ven... ORPHA:57777
Postpoliomyelitis Syndrome
Hypoventilation, Respiratory insufficiency ORPHA:2942
Gitelman Syndrome
Prolonged QT interval, Salt craving, Ventricular tachycardia, Palpitations, Hypotension, Polydips... OMIM:263800
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Portal hypertension, Anorexia, Weight loss, Hypotension ORPHA:98850
Wolfram Syndrome
Gastrointestinal hemorrhage, Optic atrophy, Cardiomyopathy, Abnormal autonomic nervous system phy... ORPHA:3463
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Abnormal repetitive mannerisms, Abnormal autonomic nervous system physiology ORPHA:300570
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Glandular hypospadias, Cardiomegaly OMIM:620306
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... ORPHA:2388
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dyspnea, Dilated cardiomyopathy, Pulmonary... OMIM:614921
Parkinsonian-Pyramidal Syndrome
Abnormal autonomic nervous system physiology, Dysphagia ORPHA:171695
Trisomy 20P
Inguinal hernia, Camptodactyly of finger, Abnormal autonomic nervous system physiology, Hernia, U... ORPHA:261318
Chromosome 5Q12 Deletion Syndrome
Decreased body mass index, Hypotension OMIM:615668
Lambert-Eaton Myasthenic Syndrome
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction ORPHA:43393
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Hypotension ORPHA:70578
Stuve-Wiedemann Syndrome 1
Elbow flexion contracture, Dysphagia, Contracture of the proximal interphalangeal joint of the 5t... OMIM:601559
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:146500
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Nmda Receptor Encephalitis
Orthostatic hypotension, Orthostatic tachycardia, Hypersexuality, Agitation, Abnormal autonomic n... ORPHA:217253
Acute Adrenal Insufficiency
Orthostatic hypotension, Salt craving, Myocardial infarction, Anorexia, Hypovolemia, Weight loss,... ORPHA:95409
Poliomyelitis
Abnormal motor nerve conduction velocity, Anorexia, Hypertension, Hypovolemic shock, Agitation, H... ORPHA:2912
Legionnaires Disease
Pericarditis, Anorexia, Myocarditis, Hypotension, Cellulitis, Arrhythmia ORPHA:549
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Respiratory failure, Cardiomegaly ORPHA:158687
Familial Glucocorticoid Deficiency
Anorexia, Weight loss, Hypotension, Hypertrophic cardiomyopathy, Failure to thrive ORPHA:361
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Failure to thrive, Abnormal autonomic nervous system physiology, Bruxism ORPHA:453499
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea OMIM:617143
Central Hypoventilation Syndrome, Congenital, 1
Abnormal autonomic nervous system physiology, Aganglionic megacolon, Decreased heart rate variabi... OMIM:209880
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Camptodactyly of finger, Optic atrophy, Hypotension, Arrhythmia, Fail... ORPHA:2135
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... ORPHA:99147
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Anorexia, Weight loss, Hypotension, Failure to thrive ORPHA:199299
Tick-Borne Encephalitis
Facial palsy, Anorexia, Abnormal glossopharyngeal nerve morphology, Abnormal autonomic nervous sy... ORPHA:297
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Hepatosplenomegaly OMIM:608013
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Necrotizing Enterocolitis
Shock, Small for gestational age, Bradycardia, Hypotension ORPHA:391673
Combined Oxidative Phosphorylation Defect Type 29
Abnormal autonomic nervous system physiology, Optic neuropathy ORPHA:478029
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension OMIM:620125
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic disc pallor, Limb joint contracture, Small for gestational age, Decreased resting energy ex... ORPHA:404454
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal autonomic nervous system physiology OMIM:616840
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly OMIM:268800
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... OMIM:602782
Dengue Fever
Gastrointestinal hemorrhage, Cerebral hemorrhage, Epistaxis, Hypotension ORPHA:99828
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly OMIM:619259
Staphylococcal Necrotizing Pneumonia
Shock, Addictive alcohol use, Hypotension ORPHA:36238
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Acute Transverse Myelitis
Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Abnormal autonomic nervous system... ORPHA:139417
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Dyspnea, Right atrial enlargement, Pleural effusion, Atrial septal di... ORPHA:1677
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Palpitations, Hyp... ORPHA:100078
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Symptomatic Form Of Hfe-Related Hemochromatosis
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly ORPHA:465508
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Hypotension, Obesity ORPHA:439822
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Hepatomegaly, Cardiomegaly, Respiratory insufficiency due to mus... ORPHA:365
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Abnormal autonomic nervous system physiolo... ORPHA:293987
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Tachypnea, Respiratory insufficiency, Hepato... OMIM:618278
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tachypnea, Abnormal hea... ORPHA:3384
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Acute Radiation Syndrome
Hypotension, Telangiectasia ORPHA:454831
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Upper airway obstru... ORPHA:581
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Anorexia, Dilated cardiomyopathy, Weight loss, Hypotension ORPHA:20
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension ORPHA:159
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... ORPHA:340
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... ORPHA:258
Aa Amyloidosis
Hypotension ORPHA:85445
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Tachypnea, Renal cyst, Cough ORPHA:137675
Scrub Typhus
Myocarditis, Hypotension ORPHA:83317
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Sepsis In Premature Infants
Tachycardia, Small for gestational age, Bradycardia, Hypotension, Decreased body weight ORPHA:90051
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation, Hepatomegaly OMIM:606056
Addison Disease
Orthostatic hypotension, Salt craving, Anorexia, Weight loss, Hypotension, Failure to thrive ORPHA:85138
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... OMIM:130650
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Oligosacchariduria OMIM:230000
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Pneumothorax, Paroxysmal dyspnea, Exertional dyspnea ORPHA:91387
Ogden Syndrome
Global glomerulosclerosis, Apnea, Left atrial enlargement, Bicuspid aortic valve, Cardiomegaly, S... OMIM:300855
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia ORPHA:31824
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Fasciitis, Myocarditis, Capillary leak, Hypotension, Cellulitis ORPHA:36234
Congenital Enterovirus Infection
Myocarditis, Cardiomyopathy, Hypotension ORPHA:292
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoventilation OMIM:620275
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Lujo Hemorrhagic Fever
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension, Dysphagia ORPHA:319213
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent pneumonia, Mucopolysacchariduria, Hypertrophi... OMIM:252500
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly ORPHA:96191
Aromatic L-Amino Acid Decarboxylase Deficiency
Tongue thrusting, Hypotension OMIM:608643
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Internal hemorrhage, Hemoperit... ORPHA:99827
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension, Weight loss ORPHA:98849
Bohring-Opitz Syndrome
Urinary retention, Abnormal cardiac septum morphology, Apnea, Cardiomegaly ORPHA:97297
Bethlem Myopathy
Hypoventilation, Reduced maximal expiratory pressure ORPHA:610
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Tropical Endomyocardial Fibrosis
Orthopnea, Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly,... ORPHA:75565
Hellp Syndrome
Cerebral hemorrhage, Increased body weight, Internal hemorrhage, Hypotension ORPHA:244242
Rabin-Pappas Syndrome
Tracheomalacia, Hypoventilation OMIM:620155
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypoventilation, Recurrent pneumonia OMIM:618493
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Optic atrophy, Hypotension ORPHA:428
Hereditary Angioedema Type 1
Hypotension, Dysphagia ORPHA:100050
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis, Anorexia, Heart murmur, Palpitations, Hypotension ORPHA:100079
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Hypotension ORPHA:90791
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Urinary incontinence, Hypopnea, Restrictive ventilatory defect, Aspiratio... OMIM:619482
Non-Functioning Pituitary Adenoma
Increased intraabdominal fat, Hypotension ORPHA:91349
Abetalipoproteinemia
Hepatomegaly, Respiratory failure, Cardiomegaly ORPHA:14
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Knee flexion contracture... ORPHA:3206
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Renal insufficiency, Spontaneous pneumothorax, Splenomegaly, Recurrent pneumonia... ORPHA:731
Cholera
Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Leprosy
Abnormality of the seventh cranial nerve, Epistaxis, Abnormal autonomic nervous system physiology ORPHA:548
Lysosomal Acid Lipase Deficiency
Cachexia, Hypovolemia, Weight loss, Hypotension, Pulmonary arterial hypertension, Failure to thrive ORPHA:275761
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, Cough,... OMIM:619991
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... ORPHA:116
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Bicuspid aortic valve, Ventricular septal defect, Breathing dysregulation... ORPHA:438213
Pituitary Apoplexy
Hypertension, Hypotension ORPHA:95613
Leptospirosis
Papilledema, Pericarditis, First degree atrioventricular block, Anorexia, Retinal hemorrhage, Sub... ORPHA:509
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Hypotension OMIM:174000
Prader-Willi Syndrome
Hypoventilation, Micropenis OMIM:176270
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Weight loss, Hypertension, Palpitations, H... ORPHA:91347
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, ... ORPHA:3472
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Anorexia, Aggressive behavior, Hypovolemia, Capillary leak, Sub... ORPHA:99826
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Nephrocalcinosis, Vesicoureteral reflux... ORPHA:904
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypoventilation, Hepatomegaly, Aciduria, 3-Methylglutaconic aciduria, Ethylmalonic aciduria, Trac... OMIM:203700
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Hypotension ORPHA:293978
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Micropenis, Cardiomegaly ORPHA:51
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Failure to thrive, Hypovolemia, Hypotension ORPHA:168558
Generalized Arterial Calcification Of Infancy
Respiratory distress, Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effus... ORPHA:51608
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Failure to thrive, Hypovolemia, Hypotension ORPHA:289548
Charcot-Marie-Tooth Disease Type 4C
Hypoventilation, Respiratory insufficiency ORPHA:99949
Prolactinoma
Hypotension ORPHA:2965
Bartter Syndrome, Type 3
Hypotension OMIM:607364
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... ORPHA:466650
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Hepatomegaly, Recurrent sinusitis, Cardiomegaly OMIM:256040
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Intracranial hemorrhage, Agitation, Hypotension ORPHA:90062
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hypovolemia, Weight loss, Hypotension, Failure to thrive ORPHA:90794
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Aortic valve stenosis, Subv... OMIM:182250
Plague
Tachycardia, Anorexia, Hematemesis, Hypotension, Arrhythmia ORPHA:707
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia, Hypotension ORPHA:95494
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695

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 Gpsm1

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 Gpsm1.

No publications found that use IMPC mice or data for Gpsm1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Gpsm1tm2b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Gpsm1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Gpsm1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Gpsm1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Gpsm1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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