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Gene: Gpsm1 MGI:1915089

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bronchoconstrictive response Gpsm1tm2b(KOMP)Wtsi HOM Early adult 1.54×10-05
abnormal heart morphology Gpsm1tm2b(KOMP)Wtsi HOM Early adult 0.00
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

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 100% (2 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)
Cerebellum N/A heterozygote 100% (2 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)
Duodenum N/A heterozygote 50% (1 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 50% (1 of 2)
Eye N/A heterozygote 50% (1 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
Ileum N/A heterozygote 50% (1 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 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
Mammary gland N/A heterozygote 50% (1 of 2)
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)
Penis N/A heterozygote 50% (1 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)
Prostate gland N/A heterozygote 50% (1 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
Skin N/A heterozygote 100% (2 of 2)
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)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vagina N/A heterozygote 50% (1 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

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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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
Ethanolaminosis
Cardiomegaly OMIM:227150
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia, Obesity, Polyphagia, Attention d... ORPHA:369873
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Arrhythmia, Weight loss, Abnormal autonomic nervous syste... ORPHA:85447
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Parkinson Disease 4, Autosomal Dominant
Weight loss, Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Aggressive behavior, Cachexia, Dysphagia, Abnormal autonomic n... ORPHA:97229
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Abnormal autonomic nervous syste... ORPHA:101016
Mitchell Syndrome
Dysphagia, Abnormal autonomic nervous system physiology OMIM:618960
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Aganglionic megacolon, Abnormal autonomic nervous system... OMIM:613870
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Auton... ORPHA:330001
Epilepsy, Familial Focal, With Variable Foci 4
Attention deficit hyperactivity disorder, Abnormal autonomic nervous system physiology OMIM:617935
Caribbean Parkinsonism
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:97355
Autosomal Dominant Epilepsy With Auditory Features
Impulsivity, Abnormal autonomic nervous system physiology ORPHA:101046
Multiple System Atrophy, Cerebellar Type
Orthostatic syncope, Neuromuscular dysphagia, Autonomic bladder dysfunction, Orthostatic hypotens... ORPHA:227510
Multiple System Atrophy
Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf... ORPHA:102
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Aggressive behavior, Abnormal autonomic nervous system physiology ORPHA:329284
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Multiple System Atrophy, Parkinsonian Type
Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf... ORPHA:98933
Tetanus
Autonomic bladder dysfunction, Dysphagia, Abnormal autonomic nervous system physiology, Bradycard... ORPHA:3299
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Atypical Rett Syndrome
Restrictive behavior, Bruxism, Inappropriate laughter, Stereotypical hand wringing, Tongue thrust... ORPHA:3095
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Pure Autonomic Failure
Syncope, Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:441
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia, Abnormal autonomic nervous system physiology ORPHA:168593
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, Autonomic er... OMIM:169500
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Inguinal hernia, Bradycardia, Abnormal autonomic nervous system physiology, Joint ... OMIM:614498
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Neuroendocrine Tumor Of The Colon
Hypotension, Right ventricular failure, Tricuspid regurgitation, Anorexia, Palpitations, Facial t... ORPHA:100080
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Fatal Familial Insomnia
Weight loss, Dysphagia, Abnormal autonomic nervous system physiology OMIM:600072
Al Amyloidosis
Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Abnormal EKG, Hy... ORPHA:85443
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Corneal scarring, Self-mutilation, Hyperactiv... OMIM:256800
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormality of peripheral nerve conduction, Choking episodes, Hyperactivity, Abnor... ORPHA:35069
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Arthrogryposis multiplex congenita, Abnormal autonomic nervous system phys... OMIM:243180
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Bruxism, Recurrent hand flapping, Agitation, Abnormal autonomic nervous system physiology OMIM:617903
Tako-Tsubo Cardiomyopathy
Mitral regurgitation, Arrhythmia, Ventricular fibrillation, ST segment elevation, Obesity, Palpit... ORPHA:66529
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Anorexia, Palpitat... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Anorexia, Palpitat... ORPHA:100082
Variant Abeta2M Amyloidosis
Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology ORPHA:314652
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Haddad Syndrome
Aganglionic megacolon, Small for gestational age, Failure to thrive, Abnormal autonomic nervous s... ORPHA:99803
Erythermalgia, Primary
Palpitations, Abnormal autonomic nervous system physiology OMIM:133020
Parkinsonism-Dystonia 2, Infantile-Onset
Abnormal autonomic nervous system physiology OMIM:618049
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Infantile Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Splenomegaly OMIM:269920
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly ORPHA:615
Analbuminemia
Hypotension, Lipodystrophy OMIM:616000
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Fabry Disease
Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Abnormal autono... OMIM:301500
Late-Onset Familial Hypoaldosteronism
Hypotension, Failure to thrive, Orthostatic hypotension ORPHA:556037
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal autonomic nervous system physiology, Cerebral vasculitis ORPHA:83601
Bronchial Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,... ORPHA:97287
Nipah Virus Disease
Hypotension, Anorexia ORPHA:99825
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Neuromuscular dysphagia, Pseudobulbar paralysis, Cereb... ORPHA:449285
Rett Syndrome
Failure to thrive, Bruxism, Stereotypical hand wringing, Abnormal autonomic nervous system physio... ORPHA:778
Alternating Hemiplegia Of Childhood
Failure to thrive, Cardiomyopathy, Abnormal T-wave, Oral-pharyngeal dysphagia, Cardiac conduction... ORPHA:2131
Alexander Disease Type Ii
Dysphagia, Abnormal autonomic nervous system physiology ORPHA:363722
Renal Nutcracker Syndrome
Syncope, Weight loss, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Tach... ORPHA:71273
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Neurodegeneration With Brain Iron Accumulation 5
Aggressive behavior, Abnormal autonomic nervous system physiology OMIM:300894
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... OMIM:300280
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Increased urinary O-linked sial... OMIM:256550
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Dysphagia, Failure to thrive, Joint contracture ORPHA:35708
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, C... OMIM:212140
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Dysphagia, Abnormal autonomic nervous system physiology, Compulsive behaviors, Hyper... ORPHA:93256
Early-Onset Familial Hypoaldosteronism
Hypotension, Failure to thrive, Orthostatic hypotension ORPHA:556030
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Alexander Disease
Self-injurious behavior, Hypotension, Failure to thrive, Facial palsy, Dysphagia, Abnormal autono... ORPHA:58
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis OMIM:253250
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h... OMIM:252920
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion OMIM:614702
Posttransplant Acute Limbic Encephalitis
Abnormal autonomic nervous system physiology ORPHA:163921
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Multiple joint contractures, Abnormal autonomic nervous system physiology ORPHA:466934
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Neuroendocrine Tumor Of Stomach
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Anorexia, Pal... ORPHA:100075
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Flexion contracture, Abnormal autonomic nervous system physiology OMIM:616683
Porphyria Variegata
Tachycardia, Scarring, Hypertension, Abnormal autonomic nervous system physiology ORPHA:79473
Tremor-Ataxia-Central Hypomyelination Syndrome
Autonomic bladder dysfunction, Optic atrophy, Dysphagia ORPHA:447896
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Dysphagia, Abnormal autonomic n... ORPHA:94093
Amyloidosis, Hereditary Systemic 1
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... OMIM:105210
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Young-Onset Parkinson Disease
Impulsivity, Restless legs, Agitation, Abnormal autonomic nervous system physiology ORPHA:2828
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:231550
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Failure to thrive, Cerebral hemorrhage OMIM:263400
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement, Nephrocalcinosis OMIM:614473
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Failure to thrive OMIM:203400
Machado-Joseph Disease
Dysphagia, Abnormal autonomic nervous system physiology OMIM:109150
Inherited Creutzfeldt-Jakob Disease
Abnormal autonomic nervous system physiology, Vestibular nystagmus ORPHA:282166
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Timothy Syndrome
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:601005
Hydroxykynureninuria
Tachycardia, Hypotension, Motor stereotypy ORPHA:79155
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Micropenis,... OMIM:616897
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Cardiomegaly, Dicarboxylic aciduria ORPHA:42
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology OMIM:266500
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension, Failure to thrive OMIM:264350
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Ramos-Arroyo Syndrome
Self-mutilation, Decreased body weight, Aganglionic megacolon, Severe failure to thrive, Abnormal... ORPHA:1051
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Obesity-Hypoventilation Syndrome
Hypoventilation OMIM:257500
Serotonin Syndrome
Hypotension, Abnormality of the autonomic nervous system, Tachycardia, Restlessness, Hypertension... ORPHA:43116
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:235200
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis ORPHA:99931
Infant Botulism
Hypotension, Dysphagia, Anorexia, Cardiac arrest, Hypertension ORPHA:178478
Systemic Capillary Leak Syndrome
Hypotension, Arrhythmia, Weight loss, Myocarditis, Pericarditis ORPHA:188
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Nephrotic syndrome OMIM:617713
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Exercise-induced myoglobinuria, Cardiomegaly,... OMIM:201475
Beta-Ketothiolase Deficiency
Hypotension, Oral aversion, Weight loss, Anorexia, Hypertension, Agitation ORPHA:134
Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension, Failure to thrive, Hypovolemia ORPHA:427
Parkinson Disease, Late-Onset
Dysphagia, Abnormal autonomic nervous system physiology OMIM:168600
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... ORPHA:324410
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Failure to thrive OMIM:177735
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal cranial nerve morphology, Dysphagia, Abnormal autonomic nervous system physiology ORPHA:247234
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
Mercury Poisoning
Tachycardia, Hypotension, Hypertension, Anorexia ORPHA:330021
Meningococcal Meningitis
Shock, Hypotension, Papilledema, Anorexia ORPHA:33475
Whipple Disease
Gastrointestinal hemorrhage, Hypotension, Polydipsia, Cachexia, Anorexia, Myocarditis, Myocardial... ORPHA:3452
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Portal hypertension, Weight loss, Anorexia ORPHA:98850
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology OMIM:614575
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul... OMIM:212138
Melkersson-Rosenthal Syndrome
Facial palsy, Abnormal autonomic nervous system physiology ORPHA:2483
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Carnitine Palmitoyltransferase I Deficiency
Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Cardiomegaly, Hepatomegaly OMIM:255120
Gitelman Syndrome
Hypotension, Chondrocalcinosis, Polydipsia, Failure to thrive, Palpitations, Salt craving, Ventri... OMIM:263800
Choreoacanthocytosis
Self-injurious behavior, Phonic tics, Dilated cardiomyopathy, Head-banging, Decreased amplitude o... ORPHA:2388
Wolfram Syndrome
Optic atrophy, Gastrointestinal hemorrhage, Polydipsia, Cardiomyopathy, Abnormal autonomic nervou... ORPHA:3463
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Portal hypertension, Ag... OMIM:609136
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Cardiomegaly, Hepato... ORPHA:228308
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Motor stereotypy, Abnormal autonomic nervous system physiology, Optic nerve hypoplasia ORPHA:300570
Chromosome 5Q12 Deletion Syndrome
Hypotension, Decreased body mass index OMIM:615668
Trisomy 20P
Umbilical hernia, Camptodactyly of finger, Inguinal hernia, Hernia, Abnormal autonomic nervous sy... ORPHA:261318
Pseudo-Torch Syndrome 3
Proteinuria, Acute kidney injury, Cardiomegaly OMIM:618886
Mogs-Cdg
Hepatosplenomegaly, Hypoventilation, Cardiomegaly, Left ventricular hypertrophy, Atrial septal de... ORPHA:79330
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:146500
Parkinsonian-Pyramidal Syndrome
Dysphagia, Abnormal autonomic nervous system physiology ORPHA:171695
Stuve-Wiedemann Syndrome 1
Elbow flexion contracture, Knee flexion contracture, Pulmonary arterial hypertension, Contracture... OMIM:601559
Lambert-Eaton Myasthenic Syndrome
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiology ORPHA:43393
Nmda Receptor Encephalitis
Orthostatic tachycardia, Orthostatic hypotension, Abnormal autonomic nervous system physiology, A... ORPHA:217253
Acute Adrenal Insufficiency
Hypotension, Failure to thrive, Salt craving, Weight loss, Orthostatic hypotension, Anorexia, Myo... ORPHA:95409
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Hypotension ORPHA:70578
Legionnaires Disease
Cellulitis, Hypotension, Arrhythmia, Anorexia, Myocarditis, Pericarditis ORPHA:549
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Poliomyelitis
Hypovolemic shock, Hypotension, Abnormal motor nerve conduction velocity, Dysphagia, Anorexia, Hy... ORPHA:2912
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... ORPHA:57777
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Renal insufficiency, Hydronephrosis, Cardiomegaly, Long-chain dicarboxyli... OMIM:608836
Familial Glucocorticoid Deficiency
Hypotension, Failure to thrive, Hypertrophic cardiomyopathy, Weight loss, Anorexia ORPHA:361
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Hypoventilation, Cardiomyopathy OMIM:310200
Sandhoff Disease
Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal... OMIM:268800
Late-Onset Isolated Acth Deficiency
Hypotension, Failure to thrive, Weight loss, Orthostatic hypotension, Anorexia ORPHA:199299
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bruxism, Failure to thrive, Abnormal autonomic nervous system physiology ORPHA:453499
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Hennekam-Beemer Syndrome
Optic atrophy, Hypotension, Failure to thrive, Camptodactyly of finger, Arrhythmia, Telangiectasi... ORPHA:2135
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Decreased heart rate variability, Abnormal autonomic nervous system physio... OMIM:209880
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Abnormal autonomic nervous system physiology ORPHA:478029
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Cerebral hemo... OMIM:620300
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,... ORPHA:542323
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... OMIM:300257
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Failure to thrive, Corneal scarring, Impaired oral bolus formation, Corneal neovas... ORPHA:404454
Tick-Borne Encephalitis
Abnormal cranial nerve morphology, Abnormal glossopharyngeal nerve morphology, Abnormal autonomic... ORPHA:297
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... ORPHA:3427
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension OMIM:620125
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Sickle Cell Disease
Renal insufficiency, Splenomegaly, Hematuria, Cardiomegaly, Hepatomegaly OMIM:603903
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation OMIM:618232
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, 3-Methylglutaconic aciduria OMIM:619259
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal autonomic nervous system physiology OMIM:616840
Dengue Fever
Hypotension, Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage ORPHA:99828
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Acute Transverse Myelitis
Autonomic bladder dysfunction, Subarachnoid hemorrhage, Orthostatic hypotension, Abnormal autonom... ORPHA:139417
Staphylococcal Necrotizing Pneumonia
Shock, Addictive alcohol use, Hypotension ORPHA:36238
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Hepatomegaly OMIM:614921
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Spinal Cord Injury
Abnormal autonomic nervous system physiology ORPHA:90058
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh... ORPHA:100078
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy ORPHA:465508
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Renal artery stenosis, Dilated cardiomyopathy OMIM:208000
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepa... ORPHA:308552
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Addictive alcohol use, Prolonged QT interval, Atria... ORPHA:31826
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Hypotension, Obesity ORPHA:439822
Perry Syndrome
Hypoventilation, Central hypoventilation OMIM:168605
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Abnormal heart morphology, Hypoventilation ORPHA:314655
Necrotizing Enterocolitis
Shock, Hypotension, Small for gestational age, Bradycardia ORPHA:391673
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Polydipsia, Obesity, Polyphagia, Aggressive behavior, Abnormal autonomic... ORPHA:293987
Postpoliomyelitis Syndrome
Hypoventilation ORPHA:2942
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Ventricular septal defect, Cardiomegaly,... OMIM:602782
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Subarachnoid he... ORPHA:90068
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Acute Radiation Syndrome
Telangiectasia, Hypotension ORPHA:454831
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy ORPHA:268
Relapsing Fever
Tachycardia, Hypotension, Epistaxis ORPHA:91547
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Weight loss, Anorexia, Cardiac arrest ORPHA:20
Scrub Typhus
Myocarditis, Hypotension ORPHA:83317
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Arrhythmia, Ventricular tachycardia, Cardiomyopathy ORPHA:159
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Agitation, Decreased bod... ORPHA:340
Aa Amyloidosis
Hypotension ORPHA:85445
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... OMIM:130650
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Sepsis In Premature Infants
Hypotension, Decreased body weight, Bradycardia, Tachycardia, Small for gestational age ORPHA:90051
Addison Disease
Hypotension, Failure to thrive, Salt craving, Weight loss, Orthostatic hypotension, Anorexia ORPHA:85138
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage ORPHA:79456
Mucopolysaccharidosis Type 3
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Splenomegaly, Abnormal m... ORPHA:581
Fucosidosis
Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycopeptiduria OMIM:230000
Glycogen Storage Disease Ii
Urinary incontinence, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Congenital Enterovirus Infection
Myocarditis, Hypotension, Cardiomyopathy ORPHA:292
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia ORPHA:31824
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Bacterial Toxic-Shock Syndrome
Cellulitis, Hypotension, Fasciitis, Shock, Myocarditis, Tachycardia, Capillary leak ORPHA:36234
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Hypoventilation OMIM:606056
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Failure to thrive, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardia... OMIM:277400
Lujo Hemorrhagic Fever
Hypotension, Shock, Bradycardia, Myocarditis, Subconjunctival hemorrhage, Dysphagia ORPHA:319213
Myasthenic Syndrome, Congenital, 20, Presynaptic
Hypoventilation OMIM:617143
Crimean-Congo Hemorrhagic Fever
Anorexia, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax, Hemoperitone... ORPHA:99827
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... ORPHA:3384
Ogden Syndrome
Secundum atrial septal defect, Aspiration, Patent foramen ovale, Ventricular septal defect, Cardi... OMIM:300855
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enl... OMIM:252500
Synaptic Congenital Myasthenic Syndromes
Right ventricular hypertrophy, Hypoventilation ORPHA:98915
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Tongue thrusting OMIM:608643
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Hypotension, Weight loss, Syncope ORPHA:98849
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoventilation OMIM:620275
Proximal Spinal Muscular Atrophy
Atrial septal defect, Hypoventilation ORPHA:70
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... ORPHA:1677
Hypermobile Ehlers-Danlos Syndrome
Epistaxis, Atypical scarring of skin, Umbilical hernia, Decreased nerve conduction velocity, Cyst... ORPHA:285
Hellp Syndrome
Increased body weight, Hypotension, Internal hemorrhage, Cerebral hemorrhage ORPHA:244242
Neuroendocrine Neoplasm Of Appendix
Hypotension, Palpitations, Anorexia, Heart murmur, Tricuspid stenosis ORPHA:100079
Autosomal Dominant Hypocalcemia
Hypotension, Arrhythmia, Optic atrophy, Congestive heart failure ORPHA:428
Hereditary Angioedema Type 1
Hypotension, Dysphagia ORPHA:100050
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension, Failure to thrive ORPHA:90791
Histiocytoid Cardiomyopathy
Hepatomegaly, Renal cyst, Cardiomegaly, Ventricular septal defect ORPHA:137675
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Aspiration, Hypoventilation, Cardiomyopathy ORPHA:258
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Elbow flexion contracture, Knee flexion contracture, Flexion contracture... ORPHA:3206
Non-Functioning Pituitary Adenoma
Hypotension, Increased intraabdominal fat ORPHA:91349
Lysosomal Acid Lipase Deficiency
Hypotension, Failure to thrive, Cachexia, Weight loss, Pulmonary arterial hypertension, Hypovolemia ORPHA:275761
Cholera
Tachycardia, Hypotension, Hypovolemic shock ORPHA:173
Leprosy
Epistaxis, Abnormal seventh cranial physiology, Abnormal autonomic nervous system physiology ORPHA:548
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Bohring-Opitz Syndrome
Cardiomegaly, Urinary retention, Abnormal cardiac septum morphology ORPHA:97297
Bethlem Muscular Dystrophy
Hypoventilation ORPHA:610
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Glycogen Storage Disease Due To Acid Maltase Deficiency
Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepa... ORPHA:365
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypoventilation OMIM:618493
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Hypertrophic cardiomyopathy, Vesicoureteral reflux, Splenomegaly, Nep... ORPHA:116
Rabin-Pappas Syndrome
Hypoventilation OMIM:620155
Leptospirosis
Hypotension, Pulmonary hemorrhage, Arrhythmia, Papilledema, First degree atrioventricular block, ... ORPHA:509
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Patent foramen ovale OMIM:620371
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Hypertension OMIM:174000
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Failure to thrive ORPHA:293978
Williams Syndrome
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Overriding aorta, Atrial... ORPHA:904
Pituitary Apoplexy
Hypotension, Hypertension ORPHA:95613
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly ORPHA:14
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Shock, Anorexia, Capillary leak, Aggressive behavior, In... ORPHA:99826
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Palpitations, Weight loss, Supraventricular arrhythmia, Ve... ORPHA:91347
Aicardi-Goutières Syndrome
Micropenis, Hepatosplenomegaly, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:51
Prader-Willi Syndrome
Micropenis, Hypoventilation OMIM:176270
Liver Disease, Severe Congenital
Aminoaciduria, Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Ventricu... OMIM:619991
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Hepatosplenomegaly, Reduced renal corticomedullary differentiation... ORPHA:731
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Ventricular septal defect, Cardiomega... ORPHA:3472
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... ORPHA:75565
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Failure to thrive, Hypovolemia ORPHA:168558
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Aciduria, Hypoventilation, 3-Methylglutaconic aciduria, Hepatomegaly, Ethylmalonic aciduria OMIM:203700
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Failure to thrive, Hypovolemia ORPHA:289548
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormal heart morphology, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect... ORPHA:438213
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly OMIM:620376
Prolactinoma
Hypotension ORPHA:2965
Bartter Syndrome, Type 3
Hypotension OMIM:607364
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, ST segment depression, ... ORPHA:466650
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:256040
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Medullary nephrocalcinosis,... ORPHA:51608
Charcot-Marie-Tooth Disease Type 4C
Hypoventilation ORPHA:99949
Acute Liver Failure
Hypotension, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Agitation ORPHA:90062
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Chordee, Secundum atrial septal defect, Hypoventilation, Phimosis OMIM:620455
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypotension, Failure to thrive, Shock, Weight loss, Hypovolemia ORPHA:90794
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Urinary incontinence, Hypoventilation OMIM:619482
Plague
Hypotension, Arrhythmia, Hematemesis, Anorexia, Tachycardia ORPHA:707
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... OMIM:182250
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension, Septo-optic dysplasia, Optic nerve hypoplasia 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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