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Gene: Tacr1 MGI:98475

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
tachykinin receptor 1
Synonyms:
NK-1R,  SPr,  Tac1r,  NK1 receptor,  neurokinin receptor 1,  NK1-R,  substance p receptor

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tacr1 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 Tacr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans OMIM:154800
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Indolent Systemic Mastocytosis
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology ORPHA:98848
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... ORPHA:98850
Osteochondrosis Of The Tarsal Bone
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... ORPHA:563991
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Crescentic glomerulonephritis, Arthritis, Restrictive ventilatory defect, Cou... OMIM:616414
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... ORPHA:98849
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Limitation of joint mobility, K... ORPHA:2619
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... OMIM:607850
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Chondritis, Os... ORPHA:564003
Glycoprotein Storage Disease
Gout OMIM:232900
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Ataxia, Attention deficit hyperactivity disorder OMIM:617113
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... OMIM:228000
Hartnup Disorder
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Sydenham Chorea
Septic arthritis, Irritability, Endocarditis, Emotional lability ORPHA:306731
Kienbock Disease
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist ORPHA:97332
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Late-Onset Familial Hypoaldosteronism
Fever, Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circ... ORPHA:556037
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Congenital Atransferrinemia
Arthritis ORPHA:1195
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec... OMIM:601492
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... OMIM:619927
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... OMIM:105835
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Synovitis, Reduced bone minera... ORPHA:85435
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Recurrent pneumonia, Tachypnea, Dyspnea, Res... ORPHA:60032
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili... ORPHA:231
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Joint stiffness, Delayed epiphyseal ossification, Osteoarthritis,... ORPHA:93308
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior ORPHA:382
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Synovitis, Arthritis, Serositis ORPHA:567544
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media OMIM:601457
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elbow flexion contracture, Knee flexion contracture, Sterile arthritis, Arthritis, Colitis,... OMIM:604416
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... OMIM:610600
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Osteoarthritis With Mild Chondrodysplasia
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness OMIM:604864
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Hyperactivity, Aggressive behavior, Increased circulating ACTH level... ORPHA:43
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Thrombocytopenia, Splenomegaly, Vacuolate... ORPHA:167
Pseudoachondroplasia
Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Delayed epiphyseal oss... ORPHA:750
Hennekam-Beemer Syndrome
Mastocytosis, Arrhythmia, Telangiectasia of the skin, Hypotension ORPHA:2135
Epiphyseal Dysplasia, Multiple, 3
Delayed epiphyseal ossification, Osteoarthritis, Limited elbow extension, Limited knee extension,... OMIM:600969
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... ORPHA:33110
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... ORPHA:3077
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Recurrent otitis media, Malar rash OMIM:620321
Necrobiosis Lipoidica
Granuloma, Telangiectasia of the skin, Abnormality of neutrophil physiology ORPHA:542592
Holocarboxylase Synthetase Deficiency
Respiratory distress, Eczema, Tachypnea, Keratoconjunctivitis, Irritability, Perioral eczema ORPHA:79242
Juvenile Huntington Disease
Hyperactivity, Ataxia, Chorea, Gait ataxia, Progressive cerebellar ataxia, Dementia ORPHA:248111
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity OMIM:130020
Cranio-Osteoarthropathy
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling ORPHA:1525
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis, Inspiratory stridor OMIM:618618
Scedosporiosis
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchial breath sound, ... ORPHA:449280
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... OMIM:130060
Immunodeficiency 61
Recurrent otitis media, Arthritis, Recurrent sinusitis OMIM:300310
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Arthritis, Otitis media, ... ORPHA:229717
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... ORPHA:556030
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... OMIM:226990
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Osteoarthritis, Joint stiffness ORPHA:1345
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased serum testosterone concentration, Decreased circulating cortisol level, Precocious pube... ORPHA:90793
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Limited hip movement ORPHA:86820
Anti-Glomerular Basement Membrane Disease
Arthritis, Respiratory insufficiency, Cough ORPHA:375
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Septic arthritis ORPHA:36237
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Joint stiffness, Iridocyclitis, Knee osteoarthritis, Flexion contracture, Oligoar... ORPHA:85408
Majeed Syndrome
Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomyelitis, Pustul... ORPHA:77297
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Episcleritis, Skin rash, Dyspnea, Uveitis, Arthritis, Restrictive ventilatory ... ORPHA:36412
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... ORPHA:2114
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... ORPHA:69126
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Apnea, Episodic tachypnea, Depression, Aspiration pneumonia, Emotiona... ORPHA:79264
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Osteoarthritis, Decreased compound muscle action potential amplitude, Bronchiectasis, Joint hyper... OMIM:620080
Peripheral Dysostosis
Osteoarthritis, Joint stiffness ORPHA:1795
Trigeminal Neuralgia
Allodynia, Depression ORPHA:221091
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory f... ORPHA:178320
Wild Type Abeta2M Amyloidosis
Arthropathy, Arthritis, Decreased nerve conduction velocity, Decreased amplitude of sensory actio... ORPHA:85446
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Limitation of joint mobility ORPHA:2582
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... OMIM:300770
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu valgum, ... ORPHA:166002
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Abnormal joint morphology, Limitation of joint mobility, R... ORPHA:47612
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Joubert Syndrome 7
Central apnea, Episodic tachypnea, Tachypnea, Genu valgum, Neonatal breathing dysregulation OMIM:611560
Graft Versus Host Disease
Fasciitis, Myositis, Acute hepatitis, Dupuytren contracture, Limited elbow movement, Maculopapula... ORPHA:39812
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Asthma, Arthritis, Keratoconjuncti... OMIM:617321
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S... OMIM:615516
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
High Altitude Pulmonary Edema
Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Activated Pi3K-Delta Syndrome
Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Chronic sinusitis ORPHA:397596
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Epiphyseal Dysplasia, Multiple, 1
Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity, Genu valgum, Hip oste... OMIM:132400
Albers-Schönberg Osteopetrosis
Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste... ORPHA:53
Muckle-Wells Syndrome
Episcleritis, Skin rash, Camptodactyly of finger, Uveitis, Arthritis, Restrictive ventilatory def... ORPHA:575
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Camptodactyly of finger, Decreased nerve conduction velocity, Tachypnea, Respiratory failure, Ins... OMIM:604320
Takayasu Arteritis
Increased inflammatory response, Arthritis, Pulmonary arterial hypertension, Inflammatory abnorma... ORPHA:3287
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Premature osteoarthritis, Osteochondritis dissecans OMIM:165800
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Melorheostosis
Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness ORPHA:2485
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Patellar hypoplasia, Hypox... ORPHA:2257
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Genu valgum ORPHA:85198
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Progressive Osseous Heteroplasia
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue ORPHA:2762
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Torticollis, Intermittent hypothermia, Oculogyric crisis, Tongue th... OMIM:608643
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Short attention span, Decreased serum insulin-like growth factor 1, Elevated circu... OMIM:608747
Spondyloepiphyseal Dysplasia Tarda
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... ORPHA:93284
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Osteoarthritis OMIM:614135
Familial Cold Autoinflammatory Syndrome 2
Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis OMIM:611762
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Protrusio acetabuli, Limited hip movement, Hip osteoart... ORPHA:99642
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... ORPHA:217563
Epiphyseal Dysplasia, Multiple, 5
Premature osteoarthritis, Delayed ossification of carpal bones, Delayed tarsal ossification, Genu... OMIM:607078
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Nasal polyposis, Myocarditis, As... ORPHA:183
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
Cardiomyopathy, Dilated, 2H
Tachypnea, Cardiorespiratory arrest OMIM:620203
Anterior Cutaneous Nerve Entrapment Syndrome
Somatic sensory dysfunction, Anorexia, Impaired tactile sensation, Hyperesthesia, Allodynia ORPHA:51890
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum ORPHA:1822
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility ORPHA:63442
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... ORPHA:85327
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abnormal sacroiliac joint morphology, Cr... ORPHA:324964
Sapho Syndrome
Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s... ORPHA:793
Aortic Aneurysm, Familial Thoracic 12
Arthritis, Chronic pulmonary obstruction, Spontaneous pneumothorax OMIM:619825
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomer... ORPHA:36234
Hypochondroplasia
Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow, Genu varum ORPHA:429
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Erythema nodosum, Asthma, Recurrent pneumonia, Bronchiectasis, Uve... OMIM:614700
Complex Regional Pain Syndrome
Dysesthesia, Somatic sensory dysfunction, Trophic changes related to pain, Allodynia ORPHA:83452
Adult-Onset Still Disease
Pericarditis, Skin rash, Myocarditis, Hepatitis, Joint swelling, Arthritis, Restrictive ventilato... ORPHA:829
Zika Virus Disease
Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Arthritis, Conjunctivitis, In... ORPHA:448237
Systemic Lupus Erythematosus, Susceptibility To, 6
Arthritis, Pericarditis, Malar rash OMIM:609939
Stiff-Person Syndrome
Fever, Exaggerated startle response, Diabetes mellitus, Opisthotonus, Depression OMIM:184850
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth... OMIM:208230
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... OMIM:610921
Schnitzler Syndrome
Arthritis, Increased bone mineral density, Skin rash ORPHA:37748
Familial Cold Autoinflammatory Syndrome 1
Arthritis, Conjunctivitis, Skin rash, Uveitis OMIM:120100
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Hip subluxation, Delayed epiphyseal ossification, Multiple joint dislocation, Gener... ORPHA:93360
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ... ORPHA:93351
Paget Disease Of Bone 6
Osteoarthritis, Recurrent fractures OMIM:616833
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Abn... ORPHA:449291
Rheumatic Fever
Pericarditis, Sinusitis, Epistaxis, Myocarditis, Endocarditis, Respiratory insufficiency, Arthritis ORPHA:3099
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Periodic Fever, Menstrual Cycle-Dependent
Fever, Increased circulating cortisol level OMIM:614674
Whipple Disease
Myositis, Pericarditis, Myocarditis, Uveitis, Depression, Respiratory insufficiency, Arthritis, C... ORPHA:3452
Mixed Connective Tissue Disease
Myositis, Pericarditis, Skin rash, Gastritis, Joint stiffness, Myocarditis, Dyspnea, Osteolysis, ... ORPHA:809
Atypical Rett Syndrome
EEG abnormality, Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:3095
Neurotrophic Keratopathy
Anterior uveitis, Allodynia ORPHA:137596
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Progressive language deterioratio... ORPHA:163681
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... OMIM:613470
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Propionic Acidemia
Apnea, Eczema, Tachypnea, Osteoporosis, Pancreatitis OMIM:606054
Severe Hemophilia A
Limb joint contracture, Epistaxis, Limitation of joint mobility, Synovitis, Joint swelling, Progr... ORPHA:169802
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation, Dystonia ORPHA:98757
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Limitation of joint mobility, Ge... ORPHA:166011
Pfapa Syndrome
Arthritis, Infectious encephalitis ORPHA:42642
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea OMIM:620085
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Hemochromatosis, Type 2A
Arthritis OMIM:602390
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Holocarboxylase Synthetase Deficiency
Irritability, Tachypnea, Skin rash, Hyperventilation OMIM:253270
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Arthritis, Recurrent sinusitis, Membranous nephropathy OMIM:615559
Alpha-Mannosidosis
Chronic otitis media, Arthritis, Synostosis of joints ORPHA:61
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease OMIM:616100
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Respiratory failure, Tachypnea, Respiratory insufficiency OMIM:614299
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma... OMIM:617600
Oligoarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Joi... ORPHA:85410
Ulnar Hemimelia
Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec... ORPHA:93320
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis OMIM:184840
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Per... ORPHA:727
Autoimmune Hepatitis
Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Depres... ORPHA:2137
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Skin rash, Tachypnea, Hypoxemia, Respiratory failure, Pleural ef... ORPHA:542323
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Osteoarthritis ORPHA:166100
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Acne, Osteoporosis, Depression ORPHA:77296
Reynolds Syndrome
Skin rash, Respiratory insufficiency, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis ORPHA:779
Vertical Talus, Congenital
Arthritis OMIM:192950
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Nail-Patella Syndrome
Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduced bone mineral density,... ORPHA:2614
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Dyspnea, Limitation of j... ORPHA:728
Cinca Syndrome
Patellar overgrowth, Arthritis, Skin rash, Uveitis OMIM:607115
Spondyloepimetaphyseal Dysplasia, Irapa Type
Capitate-hamate fusion, Osteoarthritis, Limited elbow extension, Genu valgum OMIM:271650
Polymyositis
Pericarditis, Respiratory insufficiency, Arthritis, Cough, Chondrocalcinosis, Exertional dyspnea ORPHA:732
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin... OMIM:609152
Eosinophilic Fasciitis
Arthritis, Fasciitis, Myositis ORPHA:3165
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... ORPHA:95699
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Episodic tachypnea, Sagittal... ORPHA:2872
Desbuquois Dysplasia 1
Joint dislocation, Joint laxity, Neonatal respiratory distress, Phalangeal dislocation, Osteoarth... OMIM:251450
Fusariosis
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Pro... ORPHA:228119
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury... OMIM:608654
Familial Cold Urticaria
Arthritis, Conjunctivitis ORPHA:47045
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Decreased circulating cortisol level, Hyperactivity, Ataxia, Confusion, Pri... ORPHA:139396
Enthesitis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Knee osteoarthritis, Abnormality of the elbow, Oligoarthritis, Enthesitis, Arth... ORPHA:85438
Chikungunya
Maculopapular exanthema, Skin rash, Epistaxis, Joint stiffness, Erythema nodosum, Crusting erythe... ORPHA:324625
Periodic Fever, Familial, Autosomal Dominant
Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Polyarticular arthritis, Conjunctiv... OMIM:142680
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Hemochromatosis, Type 3
Arthritis OMIM:604250
Wilson Disease
Hepatitis, Depression, Joint swelling, Arthritis, Acute hepatitis, Pathologic fracture ORPHA:905
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Tachypnea, Flat acetabular roof, Wormian bones, Pulmonary arteri... OMIM:613320
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... OMIM:186580
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Roifman-Chitayat Syndrome
Osteopenia, Arthritis, Pneumonia OMIM:613328
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Septic arthritis, Recurrent pneumonia, Eczema OMIM:617780
Pyruvate Dehydrogenase Deficiency
Dyspnea, Tachypnea, Osteolytic defects of the middle phalanx of the 4th toe ORPHA:765
Reactive Arthritis
Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Respiratory insufficiency, Enthesitis, Art... ORPHA:29207
Stickler Syndrome Type 1
Joint hyperflexibility, Osteoarthritis ORPHA:90653
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... ORPHA:371428
Multiple Epiphyseal Dysplasia Type 5
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd... ORPHA:93311
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Skin rash, Joint stiffness, Pustule, Tachypnea, Pustular rash, Malar rash OMIM:615934
Pediatric Systemic Lupus Erythematosus
Myositis, Skin rash, Discoid lupus rash, Dyspnea, Arthritis, Pleural effusion, Malar rash, Nephritis ORPHA:93552
Diffuse Cutaneous Systemic Sclerosis
Dyspnea, Flexion contracture, Osteolysis, Arthritis, Pulmonary arterial hypertension ORPHA:220393
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteo... OMIM:259100
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... OMIM:265120
Adiposis Dolorosa
Arthritis, Recurrent skin infections, Depression ORPHA:36397
Citrullinemia Type I
Ankle clonus, Tachypnea ORPHA:247525
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Irritability, Iritis OMIM:109650
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... ORPHA:85436
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Thrombocytopenia, Sp... OMIM:214500
Multifocal Atrial Tachycardia
Dyspnea, Tachypnea ORPHA:3282
Riddle Syndrome
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Arthritis, Restrictive ventilatory defect, Res... ORPHA:420741
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Lyme Disease
Arthritis, Infectious encephalitis, Joint swelling, Uveitis ORPHA:91546
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Dysdiadochokine... OMIM:610217
Biotinidase Deficiency
Skin rash, Apnea, Recurrent skin infections, Seborrheic dermatitis, Tachypnea, Conjunctivitis OMIM:253260
Benign Schwannoma
Nasal polyposis, Allodynia, Abnormality of peripheral nervous system electrophysiology ORPHA:252164
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormality of the wrist ORPHA:1657
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Arthritis ORPHA:397744
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second... ORPHA:90796
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Farber Disease
Respiratory distress, Abnormality of the knee, Flexion contracture, Osteoporosis, Abnormality of ... ORPHA:333
Lesch-Nyhan Syndrome
Gout ORPHA:510
Moderate Hemophilia A
Arthropathy, Hip contracture, Limitation of joint mobility, Synovitis, Joint swelling, Joint hemo... ORPHA:169805
Combined Oxidative Phosphorylation Deficiency 53
Arthritis, Osteomyelitis, Septic arthritis OMIM:619423
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo... OMIM:130000
Hemochromatosis, Type 4
Osteoarthritis OMIM:606069
Melioidosis
Foot osteomyelitis, Pneumonia, Osteoarthritis, Hepatitis, Acute infectious pneumonia, Septic arth... ORPHA:31202
Vexas Syndrome
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... OMIM:301054
Joubert Syndrome 3
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608629
Tetanus
Respiratory distress, Stiff neck, Tachypnea ORPHA:3299
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Necrotizing enterocolitis, Tachypnea OMIM:201475
Beta-Thalassemia
Irritability, Abnormality of temperature regulation, Hypogonadotropic hypogonadism ORPHA:848
Complement Factor I Deficiency
Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti... OMIM:610984
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... OMIM:618935
Pseudoachondroplasia
Joint laxity, Genu recurvatum, Limited hip extension, Ulnar deviation of the wrist, Irregular car... OMIM:177170
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Irritability, A... ORPHA:348
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conjunctivitis OMIM:617591
Localized Scleroderma
Fasciitis, Flexion contracture, Abnormality on pulmonary function testing, Uveitis, Arthritis, Es... ORPHA:90289
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Giant Cell Arteritis
Pericarditis, Epistaxis, Joint stiffness, Depression, Arthritis, Cough ORPHA:397
Coronary Arterial Fistula
Orthopnea, Tachypnea, Bacterial endocarditis, Pulmonary arterial hypertension, Exertional dyspnea ORPHA:2041
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Listeriosis
Respiratory distress, Pericarditis, Stiff neck, Osteomyelitis, Pneumonia, Pustule, Myocarditis, P... ORPHA:533
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea OMIM:615838
Psoriasis 14, Pustular
Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Polyarticular arthritis OMIM:614204
Hemophilia A
Osteoarthritis, Joint hemorrhage OMIM:306700
Laron Syndrome
Osteoarthritis, Abnormality of the elbow ORPHA:633
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Gout OMIM:162000
Brucellosis
Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Glomerulonephritis, Orchitis, Myocardit... ORPHA:1304
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea OMIM:614857
Stickler Syndrome, Type I
Arthropathy, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility OMIM:108300
Hemophilia B
Osteoarthritis, Joint hemorrhage OMIM:306900
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Tachypnea ORPHA:26793
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Hip dislocation, Knee disloca... OMIM:618000
Overlap Myositis
Arthritis, Subluxation of the small joints of the hand, Pulmonary arterial hypertension, Rheumato... ORPHA:206572
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Dyspnea, Limitation of joint mobility, Arthritis, Restrictive ... ORPHA:93672
Blau Syndrome
Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema... ORPHA:90340
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Pulmonary embolism, Orchitis, Retr... ORPHA:117
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma OMIM:304790
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis OMIM:612260
Hyperimmunoglobulinemia D With Periodic Fever
Arthritis, Peritonitis, Limitation of joint mobility, Recurrent aphthous stomatitis ORPHA:343
Coccidioidomycosis
Respiratory distress, Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Cough,... ORPHA:228123
Congenital Tufting Enteropathy
Arthritis, Punctate keratitis, Irritability ORPHA:92050
Pachydermoperiostosis
Osteomyelitis, Acne, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteolysi... ORPHA:2796
Cholera
Irritability, Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Wheezing, ... OMIM:300755
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Inflammatory abnormality of the skin, Ankle swelling, Cholangitis, Eczema, ... ORPHA:3260
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Arthritis, Cervical subluxation OMIM:184100
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated pulmonary a... ORPHA:1329
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Myocarditis, Pulmonary arterial hypertension, Arthritis ORPHA:464343
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout OMIM:617056
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Myocarditis, Dyspnea,... ORPHA:90291
Alkaptonuria
Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita... OMIM:203500
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Joint stiffness, Osteoporosis, Arthritis, Joint swelling, Stiff interphalangeal joints ORPHA:465508
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Apnea, Tachypnea, Hypsarrhythmia, EEG abnormality ORPHA:20
Generalized Pustular Psoriasis
Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma ORPHA:247353
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Eczema, Erythroderma OMIM:619510
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Cryoglobulinemic Vasculitis
Viral hepatitis, Keratoconjunctivitis sicca, Arthritis ORPHA:91138
Cocaine Intoxication
Respiratory distress, Glomerulonephritis, Wheezing, Tachypnea, Pneumothorax, Tubulointerstitial n... ORPHA:90068
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Enlarged joints, Abnormal joint morphology, Osteoarthritis, Limita... ORPHA:1427
Dowling-Degos Disease
Arthritis, Acne inversa ORPHA:79145
Ethylene Glycol Poisoning
Gastritis, Tachypnea, Episodic respiratory distress, Euphoria, Abnormal pattern of respiration ORPHA:31826
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Agitation, Restlessness, Depression ORPHA:100924
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pulmonary arterial hypert... ORPHA:77259
Apparent Mineralocorticoid Excess
Polydipsia, Decreased circulating aldosterone level, Abnormality of circulating cortisol level, D... ORPHA:320
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per... ORPHA:32960
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Delayed epiphyseal ossification, Premature osteoarthritis, Upper airway obstruction... ORPHA:93352
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Restrictive ventilatory defect, Infectious... ORPHA:761
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:424
Sarcoidosis, Susceptibility To, 1
Iridocyclitis, Dyspnea, Bronchiectasis, Uveitis, Hypoxemia, Arthritis, Inflammation of the large ... OMIM:181000
Serotonin Syndrome
Irritability, Tachypnea ORPHA:43116
Machado-Joseph Disease Type 1
Dystonia, Abnormality of temperature regulation, Dysphagia ORPHA:276238
Machado-Joseph Disease Type 2
Dystonia, Abnormality of temperature regulation, Dysphagia ORPHA:276241
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Neonatal respiratory distress, Psoriasiform dermatitis, Arthritis, Chronic oral candi... ORPHA:221139
Shigellosis
Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Conjunctivitis, Acut... ORPHA:810
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Hypoesthesia, Distal sensory impairment, Dementia, Dysphagia, Allodynia OMIM:603041
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea ORPHA:2318
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Gout ORPHA:411543
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Epistaxis, Keratitis, Dyspnea, Chronic pulmonary obstruction, Arthritis, Infla... ORPHA:906
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal acetabulum morphology, Apnea, Tachypnea, Early ossification of capital femoral epiphyses... ORPHA:397715
Familial Mediterranean Fever
Pericarditis, Orchitis, Peritonitis, Arthritis, Crohn's disease, Pleural effusion, Erysipelas OMIM:249100
Plague
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Abnormality of the... ORPHA:707
Joubert Syndrome 35
Abnormality of temperature regulation OMIM:618161
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Osteoarthritis, Rickets, Genu valgum, Hypophosphatemic rickets OMIM:307800
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Premature osteoarthritis, Enlarged joints, Flexion contracture, Recurrent pneumonia OMIM:215150
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout OMIM:618061
Machado-Joseph Disease Type 3
Dystonia, Abnormality of temperature regulation, Dysphagia ORPHA:276244
Hyperparathyroidism, Neonatal Severe
Dyspnea, Tachypnea, Recurrent fractures OMIM:239200
Alkaptonuria
Joint dislocation, Joint stiffness, Osteoarthritis, Reduced bone mineral density, Arthritis, Join... ORPHA:56
Spondyloepimetaphyseal Dysplasia, Missouri Type
Osteoarthritis, Limited elbow extension, Genu varum OMIM:602111
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea ORPHA:860
Multiple Epiphyseal Dysplasia Type 4
Dislocation of the femoral head, Joint stiffness, Flexion contracture, Delayed femoral head ossif... ORPHA:93307
Joubert Syndrome
Apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:475
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... ORPHA:3243
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Hepatitis, Cheilitis, Arthritis, Irritability, Conjunctivit... ORPHA:2331
Glycogen Storage Disease Vii
Gout OMIM:232800
Hereditary Xanthinuria
Arthropathy, Rheumatoid arthritis, Gout ORPHA:3467
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hepatitis, Atopic dermatitis, Arthritis, Ir... OMIM:615846
Fabry Disease
Dyspnea, Chronic pulmonary obstruction, Respiratory insufficiency, Depression, Reduced bone miner... ORPHA:324
Gaucher Disease
Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Recurrent fractures... ORPHA:355
Oculocerebrorenal Syndrome Of Lowe
Recurrent fractures, Osteomalacia, Joint stiffness, Hip dislocation, Cheilitis, Respiratory insuf... ORPHA:534
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral ossification, Delayed... ORPHA:93314
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Arthritis, Erysipelas, Pancreatitis ORPHA:342
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmonary arteria... ORPHA:99106
Idiopathic Camptocormia
Abnormal inflammatory response, Myositis, Osteoarthritis, Myelitis ORPHA:1320
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... ORPHA:89936
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Apnea, Elbow dislocation, Decreased nerve conduction velocity, Osteoarthritis,... ORPHA:285
Systemic Lupus Erythematosus
Lupus nephritis, Discoid lupus rash, Cheilitis, Depression, Arthritis, Malar rash, Serositis ORPHA:536
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Hypothermia OMIM:618493
Beta-Ketothiolase Deficiency
Tachypnea, Cough ORPHA:134
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Eczema, Erythema nodosum, Arthritis, Panniculitis, Recurrent sinusitis, Recurrent otit... OMIM:615688
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Osteomalacia, Pneumonia, Recurrent skin infections, Gastritis, Bronchie... OMIM:619381
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233710
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Arthritis, Nephritis ORPHA:91139
Joubert Syndrome 2
Central apnea, Neonatal breathing dysregulation, Episodic tachypnea, Metopic synostosis OMIM:608091
Hyper-Igd Syndrome
Skin rash, Lymphadenitis, Arthritis, Chronic oral candidiasis, Serositis OMIM:260920
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233690
Double Outlet Right Ventricle
Tachypnea ORPHA:3426
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation OMIM:619173
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand OMIM:190350
Medullary cystic kidney disease 2
Tubulointerstitial nephritis, Gout OMIM:603860
Multiple Osteochondromas
Abnormality of the knee, Limitation of joint mobility, Abnormal carpal morphology, Femoroacetabul... ORPHA:321
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Epistaxis, Osteoporosis, Enterocolitis, Gout, Increased susceptibility to fractures, ... ORPHA:79259
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C... OMIM:301074
Chronic Graft Versus Host Disease
Fasciitis, Urinary bladder inflammation, Dyspnea, Flexion contracture, Pneumothorax, Bronchiectas... ORPHA:99921
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Irritability, Respiratory failure, Tachypnea, Respiratory insufficiency OMIM:618278
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Tachypnea, Rickets, Respiratory insufficiency, Reduced bone mineral den... OMIM:613658
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Limitation of joint mobility OMIM:313400
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Painless fractures due to injury, Abnormality ... ORPHA:642
22Q11.2 Deletion Syndrome
Acne, Seborrheic dermatitis, Asthma, Chronic pulmonary obstruction, Multiple suture craniosynosto... ORPHA:567
Dermatomyositis
Pericarditis, Myocarditis, Respiratory insufficiency, Arthritis, Pulmonary arterial hypertension,... ORPHA:221
Marshall Syndrome
Osteoarthritis, Genu valgum ORPHA:560
Joubert Syndrome 1
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:213300
Rh Deficiency Syndrome
Hypoxemia, Tachypnea ORPHA:71275
Cockayne Syndrome Type 1
Tremor, Male hypogonadism, Abnormality of temperature regulation ORPHA:90321
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess OMIM:306400
Autoimmune Lymphoproliferative Syndrome
Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,... ORPHA:3261
Loeys-Dietz Syndrome 5
Eosinophilic infiltration of the esophagus, Osteoarthritis, Congenital finger flexion contracture... OMIM:615582
Deeah Syndrome
Abnormality of temperature regulation, Anterior pituitary hypoplasia, Decreased response to growt... OMIM:619004
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Chilblains, Arthritis, Irritability, Panniculitis ORPHA:51
Stuve-Wiedemann Syndrome 1
Fever, Abnormality of temperature regulation, Recurrent fever, Dysphagia OMIM:601559
Wilson Disease
Osteomalacia, Decreased nerve conduction velocity, Osteoarthritis, Atypical or prolonged hepatiti... OMIM:277900
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea OMIM:615751
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea OMIM:613834
Glycogen Storage Disease Ic
Chronic pancreatitis, Gout, Inflammation of the large intestine, Stomatitis, Pulmonary arterial h... OMIM:232240
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea, Hepatitis ORPHA:415
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Myocarditis, Dyspnea, Pleural empyema, Septic arthritis, Pancreatitis, Acute colitis ORPHA:544482
Mucopolysaccharidosis Type 2, Severe Form
Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Upper airway obstruct... ORPHA:217085
Malignant Hyperthermia Of Anesthesia
Tachypnea, Hypercapnia ORPHA:423
Hereditary Spherocytosis
Maculopapular exanthema, Gout ORPHA:822
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Knee osteoarthritis, Intervertebral disc degeneration OMIM:619656
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout ORPHA:79233
Mucopolysaccharidosis Type 2, Attenuated Form
Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Upper airway obstruct... ORPHA:217093
Glycogen Storage Disease Ib
Inflammation of the large intestine, Osteoporosis, Pancreatitis, Gout OMIM:232220
Marburg Hemorrhagic Fever
Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Nonproductive cough, Uveitis, Arthrit... ORPHA:99826
Glycogen Storage Disease Ia
Osteoporosis, Pancreatitis, Gout OMIM:232200
Osteogenesis Imperfecta
Osteopenia, Neonatal respiratory distress, Recurrent fractures, Protrusio acetabuli, Fractures of... ORPHA:666
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea ORPHA:2754
Insulin-Resistance Syndrome Type B
Skin rash, Osteoarthritis, Nephritis, Pneumonia ORPHA:2298
Pyruvate Carboxylase Deficiency
Tachypnea, Abnormal pattern of respiration ORPHA:3008
Dysbetalipoproteinemia
Acute pancreatitis, Gout ORPHA:412
Mucopolysaccharidosis Type 2
Decreased nerve conduction velocity, Limitation of joint mobility, Upper airway obstruction, Abno... ORPHA:580
Gaisböck Syndrome
Dyspnea, Cholecystitis, Gout ORPHA:90041
Goodpasture Syndrome
Glomerulonephritis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, E... OMIM:233450
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Sitosterolemia 1
Arthritis OMIM:210250
African Trypanosomiasis
Aggressive behavior, Tremor, Abnormality of the endocrine system, Abnormality of renin-angiotensi... ORPHA:3385
Scorpion Envenomation
Abnormal nasal mucus secretion, Myocarditis, Acute pancreatitis, Tachypnea ORPHA:466677
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:99889
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita... ORPHA:740
Histiocytoid Cardiomyopathy
Tachypnea, Cough ORPHA:137675
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial nephritis, Gout OMIM:174000
Chronic Mucocutaneous Candidiasis
Abnormality of temperature regulation ORPHA:1334
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:610188
Arima Syndrome
Dyspnea, Tachypnea OMIM:243910
Gitelman Syndrome
Respiratory distress, Gout, Tubulointerstitial nephritis, Hashimoto thyroiditis, Chondrocalcinosis ORPHA:358
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... ORPHA:284984
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Joint hyperflexibility, Arthritis ORPHA:93111
Choreoacanthocytosis
Depression, Arthritis, Irritability, Emotional lability, Decreased amplitude of sensory action po... ORPHA:2388
Marfan Syndrome
Genu recurvatum, Protrusio acetabuli, Flexion contracture, Premature osteoarthritis, Pneumothorax... OMIM:154700
Ulnar-Mammary Syndrome
Abnormality of temperature regulation, Delayed puberty ORPHA:3138
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Bone marrow hypocellularity, Abnormality ... ORPHA:2968
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Arthritis, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis OMIM:161700
Stickler Syndrome
Joint dislocation, Protrusio acetabuli, Osteoarthritis, Hip dislocation, Uveitis, Reduced bone mi... ORPHA:828
Noonan Syndrome 1
Cubitus valgus, Chylothorax, Synovitis OMIM:163950
Phosphoribosylpyrophosphate Synthetase Superactivity
Gout OMIM:300661
Tetrasomy 9P
Joint dislocation, Myositis, Pericarditis, Arthritis, Pulmonary arterial hypertension ORPHA:3310
Hunter-Macdonald Syndrome
Premature osteoarthritis, Camptodactyly, Cubitus valgus, Joint contracture of the hand, Delayed c... OMIM:611962
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea ORPHA:2299
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Recurrent skin infections, Camptodactyly of finger, Synovitis, Widely patent fontanel... ORPHA:3455
Loeys-Dietz Syndrome 3
Joint laxity, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Craniosynostosis, ... OMIM:613795
Acromegaly
Joint swelling, Osteoarthritis, Acne, Depression ORPHA:963
Exercise-Induced Malignant Hyperthermia
Tachypnea, Crackles, Hypocapnia ORPHA:466650
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Double Outlet Left Ventricle
Tachypnea ORPHA:3427
Classical Ehlers-Danlos Syndrome
Osteopenia, Phalangeal dislocation, Osteoarthritis, Generalized joint laxity, Hip dislocation, Jo... ORPHA:287
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Osteoarthritis OMIM:619714
Somatomammotropinoma
Joint swelling, Osteoarthritis, Depression ORPHA:314769
Central Hypoventilation Syndrome, Congenital, 1
Abnormality of temperature regulation OMIM:209880
Acute Transverse Myelitis
Fever, Abnormality of temperature regulation ORPHA:139417
Lacrimoauriculodentodigital Syndrome
Arthritis, Keratoconjunctivitis sicca, Keratoconjunctivitis ORPHA:2363
Autosomal Recessive Malignant Osteopetrosis
Tremor, Abnormality of temperature regulation ORPHA:667
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353277
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea OMIM:220111
Renal Cysts And Diabetes Syndrome
Gout OMIM:137920
Aspartylglucosaminuria
Chronic otitis media, Arthritis, Joint stiffness ORPHA:93
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Congenital hip dislocation, Osteoarthritis, Pneumothorax, Osteolysis, Respirat... ORPHA:286
Truncus Arteriosus
Tachypnea ORPHA:3384
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of temperature regulation, Heat intolerance ORPHA:2273

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 Tacr1

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 Tacr1.

No publications found that use IMPC mice or data for Tacr1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tacr1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tacr1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Tacr1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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