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Gene: Sftpc MGI:109517

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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:
surfactant associated protein C
Synonyms:
pro-SpC,  SP-C,  Sftp2,  SPC,  Sftp-2,  Bricd6

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 Sftpc 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.

The table below shows human diseases associated to Sftpc by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ... OMIM:610913
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Reticular pattern on pulmonary HRCT, Honeycomb lung, ... ORPHA:2032

The table below shows human diseases predicted to be associated to Sftpc by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Cachexia, Re... ORPHA:60033
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Weight loss ORPHA:1164
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Nasal polyposis, Ectopia le... OMIM:604571
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Weight loss... ORPHA:79127
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Pulmonary sequestration, Abnormal lung morphology, Small for gestational age ORPHA:70589
Pulmonary Blastoma
Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss ORPHA:64741
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema OMIM:618307
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Chronic bronchitis, Panacinar emphysema OMIM:613490
Idiopathic Achalasia
Bronchitis, Recurrent aspiration pneumonia, Weight loss ORPHA:930
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b... OMIM:612387
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Atelectasis, Otitis media OMIM:300455
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Arthritis, Failure to thrive, Purulent rhini... OMIM:601457
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Hypophosphatasia
Failure to thrive in infancy, Emphysema ORPHA:436
Immunodeficiency 46
Failure to thrive, Chronic oral candidiasis, Recurrent sinopulmonary infections, Conjunctivitis OMIM:616740
T-Cell Immunodeficiency With Thymic Aplasia
Pyoderma, Emphysema, Recurrent bronchopulmonary infections, Eczematoid dermatitis, Failure to thr... OMIM:242700
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... OMIM:616726
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Infertility, Atelectasis OMIM:615872
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Emphysema, Pulmonary fibrosis OMIM:618913
Immunodeficiency, Common Variable, 3
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Conjunctivitis OMIM:613493
Alpha-1-Antitrypsin Deficiency
Emphysema, Panniculitis, Bronchitis, Bronchiectasis, Hepatitis ORPHA:60
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss ORPHA:141152
Familial Nasal Acilia
Atelectasis, Chronic rhinitis, Abnormal respiratory motile cilium morphology, Recurrent upper res... ORPHA:922
Hypocomplementemic Urticarial Vasculitis
Emphysema, Inflammatory abnormality of the eye, Arthritis, Skin rash, Pleural effusion, Episcleri... ORPHA:36412
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Crazy paving pattern, ... OMIM:610921
Netherton Syndrome
Emphysema, Skin rash, Eczematoid dermatitis, Sparse eyelashes, Sparse eyebrow, Erythroderma, Recu... ORPHA:634
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
X-Linked Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Failure to thrive, Abnormal lung morpholog... ORPHA:47
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Recurrent pneumonia, Conjunctivitis, Chronic sinusitis OMIM:612692
Autosomal Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Failure to thrive, Epicanthus, Conjunctivi... ORPHA:33110
Pleural Mesothelioma
Abnormal lung morphology, Pleural effusion, Abnormal pleura morphology, Weight loss ORPHA:50251
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent bronchitis, Bronchiectasis, Recurrent pneumonia, Recurrent sinu... OMIM:607594
Yao Syndrome
Pleuritis, Arthritis, Skin rash, Pericarditis, Inflammatory abnormality of the skin, Weight loss,... OMIM:617321
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Recurrent bronchitis, Recurrent pneumonia, Recurrent sinusitis, Conjuncti... OMIM:240500
Meier-Gorlin Syndrome 4
Failure to thrive, Emphysema OMIM:613804
Immunodeficiency 89 And Autoimmunity
Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla, Crohn's diseas... OMIM:619632
Periodic Fever, Familial, Autosomal Dominant
Pleuritis, Myositis, Skin rash, Conjunctival hyperemia, Erysipelas, Conjunctivitis, Maculopapular... OMIM:142680
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
C1Q Deficiency 2
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Malar rash, Ar... OMIM:620321
Tularemia
Pneumonia, Inflammatory abnormality of the eye, Skin rash, Pleural effusion, Conjunctival hyperem... ORPHA:3392
Common Variable Immunodeficiency
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiectasis, Otitis media, Pneumonia, F... ORPHA:1572
Granulomatosis With Polyangiitis
Chronic otitis media, Pleuritis, Localized pulmonary hemorrhage, Episcleritis, Sinusitis, Elevate... OMIM:608710
Nocardiosis
Pneumothorax, Scleritis, Emphysema, Pleuritis, Thyroiditis, Pleural effusion, Lymphadenitis, Peri... ORPHA:31204
Recurrent Respiratory Papillomatosis
Atelectasis, Failure to thrive, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper re... ORPHA:60032
Chronic Beryllium Disease
Hypersensitivity pneumonitis, Weight loss, Pulmonary fibrosis, Lymphocytic interstitial pneumonia... ORPHA:133
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bilateral ptosis, Atelectasis, Bronchiolitis, Pulmonary fibrosis ORPHA:254361
Waardenburg Syndrome Type 3
Atelectasis, Telecanthus, Downslanted palpebral fissures, Thick eyebrow, Blepharophimosis ORPHA:896
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atelectasis, Pleural effusion, Atopic dermatitis, Weight loss ORPHA:2902
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec... ORPHA:3348
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Abnormal pulmonary interstitial morphology, Emphysema, Arthritis, Pleur... OMIM:181000
Meier-Gorlin Syndrome 6
Emphysema, Entropion, Failure to thrive, Downslanted palpebral fissures, Recurrent respiratory in... OMIM:616835
Lymphoid Interstitial Pneumonia
Skin rash, Multiple pulmonary cysts, Eczematoid dermatitis, Rheumatoid arthritis, Failure to thri... ORPHA:79128
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Peripheral pulmonary artery stenosis, Emphysema OMIM:219100
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Absent outer dynein arms, Male infertility, Atelectasis, Recurrent bronchit... OMIM:244400
Lymphedema-Distichiasis Syndrome
Ectropion, Abnormality of the pulmonary vasculature, Corneal erosion, Distichiasis, Ptosis, Conju... ORPHA:33001
Polyarteritis Nodosa
Pericarditis, Abnormal lung morphology, Weight loss, Pleuritis ORPHA:767
Cutis Laxa, Autosomal Dominant 1
Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema OMIM:123700
Bronchogenic Cyst
Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Pneumonia, Pulmonary cyst ORPHA:2357
Reactive Arthritis
Recurrent aphthous stomatitis, Arthritis, Pericarditis, Pustule, Inflammation of the large intest... ORPHA:29207
Loeys-Dietz Syndrome 4
Pneumothorax, Emphysema, Eosinophilic infiltration of the esophagus, Ptosis, Downslanted palpebra... OMIM:614816
Reticular Dysgenesis
Chronic otitis media, Skin rash, Failure to thrive, Weight loss, Recurrent respiratory infections ORPHA:33355
Lymphangioleiomyomatosis
Retinal hamartoma, Pneumothorax, Atelectasis, Emphysema, Recurrent respiratory infections, Chylot... ORPHA:538
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pneumonia, Recurrent otitis media, Thyroiditis, Colitis, Arthritis, Bronchiectasis, Failure to th... OMIM:614700
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Interlobular septal ... ORPHA:2302
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Failure to thrive, Recurrent sinusitis, Recurrent pneumonia, Conjunctivit... OMIM:601495
Pulmonary Non-Tuberculous Mycobacterial Infection
Bronchiectasis, Pleural effusion, Pneumothorax, Weight loss ORPHA:411703
Poikiloderma With Neutropenia
Recurrent otitis media, Skin rash, Recurrent bronchopulmonary infections, Sparse lateral eyebrow,... OMIM:604173
Follicular Lymphoma
Pleural effusion, Weight loss ORPHA:545
Congenital Tracheomalacia
Pneumothorax, Emphysema, Bronchiectasis, Failure to thrive, Pulmonary hypoplasia, Partial anomalo... ORPHA:95430
Primary Ciliary Dyskinesia
Chronic otitis media, Male infertility, Recurrent otitis media, Atelectasis, Pulmonary situs ambi... ORPHA:244
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Emphysema, Dermatochalasis, Recurrent pneumonia, Peripheral pulmonary artery stenos... ORPHA:90349
Avian Influenza
Pneumothorax, Myelitis, Pleural effusion, Conjunctivitis, Pneumonia, Hepatitis, Infectious enceph... ORPHA:454836
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the pulmonary artery, Absent eyelashes, Emphysema, Absent eyebrow ORPHA:363618
Antisynthetase Syndrome
Myocarditis, Abnormal pulmonary interstitial morphology, Myositis, Arthritis, Skin rash, Pulmonar... ORPHA:81
Acute Interstitial Pneumonia
Atelectasis, Pleural effusion, Interlobular septal thickening, Pulmonary fibrosis, Bronchiectasis... ORPHA:79126
Relapsing Polychondritis
Myocarditis, Atelectasis, Recurrent aphthous stomatitis, Inflammatory abnormality of the eye, Art... ORPHA:728
Nephroblastoma
Aniridia, Weight loss, Neoplasm of the lung ORPHA:654
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Enteroviral hepatitis, Sinusitis, Epidi... OMIM:307200
Neonatal Marfan Syndrome
Iridodonesis, Emphysema, Megalocornea, Downslanted palpebral fissures, Ectopia lentis, Small for ... ORPHA:284979
Pfapa Syndrome
Arthritis, Infectious encephalitis, Recurrent pharyngitis, Weight loss ORPHA:42642
Dermatitis, Atopic
Keratoconus, Atopic dermatitis, Eczematoid dermatitis, Conjunctivitis, Cataract, Recurrent skin i... OMIM:603165
Stevens-Johnson Syndrome
Pancreatitis, Entropion, Corneal erosion, Dyspareunia, Weight loss, Conjunctivitis, Abnormal pleu... ORPHA:36426
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Interstitial emphysema, Pulmonary hypoplasia OMIM:619708
Kaposi Sarcoma
Abnormal lung morphology, Skin rash, Weight loss ORPHA:33276
Chromomycosis
Ectropion, Abnormal lung morphology, Eyelid retraction, Keratitis, Keratoconjunctivitis sicca ORPHA:182
Surfactant Metabolism Dysfunction, Pulmonary, 4
Failure to thrive, Intraalveolar phospholipid accumulation OMIM:300770
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Recurrent respiratory infections ORPHA:1389
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Peripheral pulmonary artery st... OMIM:613177
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia, Weight loss, Progressive ptosis ORPHA:98897
Pneumocystosis
Chronic oral candidiasis, Acute infectious pneumonia, Pleural effusion, Weight loss, Multiple pul... ORPHA:723
Sarcoidosis
Pneumothorax, Enlarged lacrimal glands, Keratoconjunctivitis sicca, Emphysema, Maculopapular exan... ORPHA:797
Felty Syndrome
Chronic otitis media, Recurrent pharyngitis, Pleuritis, Arthritis, Synovitis, Sinusitis, Pericard... ORPHA:47612
Agammaglobulinemia, X-Linked
Recurrent otitis media, Pyoderma, Prostatitis, Recurrent lower respiratory tract infections, Ente... OMIM:300755
Keutel Syndrome
Recurrent otitis media, Emphysema, Recurrent bronchitis, Pulmonary artery hypoplasia, Sinusitis, ... OMIM:245150
Toxic Epidermal Necrolysis
Pancreatitis, Entropion, Corneal erosion, Weight loss, Conjunctivitis, Abnormal pleura morphology... ORPHA:537
Ellis Van Creveld Syndrome
Failure to thrive, Emphysema, Aplasia/Hypoplasia of the lungs ORPHA:289
Plasminogen Deficiency, Type I
Nephritis, Recurrent upper respiratory tract infections, Periodontitis, Conjunctivitis OMIM:217090
Meier-Gorlin Syndrome 1
Short palpebral fissure, Emphysema, Long eyelashes, Failure to thrive, Small for gestational age,... OMIM:224690
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Recurrent pharyngitis, Pleuritis, Myositis, Arthritis, Skin rash, Pericarditis, Erysipelas, Orchi... ORPHA:32960
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Recurrent otitis media, Atelectasis, Recurrent lower ... OMIM:620233
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Weight loss ORPHA:747
Tumoral Calcinosis, Normophosphatemic, Familial
Conjunctivitis OMIM:610455
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lung morphology, Weight loss ORPHA:54251
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Recurrent respiratory infections, Keratoc... ORPHA:1806
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Cystic pattern on pulmo... OMIM:610978
Immunodeficiency 27A
Pneumonia, Salmonella osteomyelitis, Increased inflammatory response, Weight loss OMIM:209950
Juvenile Temporal Arteritis
Allergic rhinitis, Conjunctivitis ORPHA:26137
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Ectropion, Recurrent otitis media, Corneal opacity, Synophrys, Long palpebral fissure, Downslante... OMIM:602562
Lymphedema-Distichiasis Syndrome
Recurrent corneal erosions, Ectropion, Corneal ulceration, Chylothorax, Distichiasis, Ptosis, Con... OMIM:153400
Malignant Atrophic Papulosis
Pleural effusion, Constrictive pericarditis, Abnormal conjunctiva morphology OMIM:602248
Mixed Connective Tissue Disease
Myocarditis, Abnormal pulmonary interstitial morphology, Gastritis, Pleuritis, Myositis, Arthriti... ORPHA:809
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Cataract, Re... OMIM:158310
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Ectropion, Corneal dystrophy, Folliculitis, Sparse eyelashes, Blepharitis, Sparse eyebrow, Kerati... OMIM:308800
Marfan Syndrome
Emphysema, Cachexia, Lens luxation, Pulmonary artery dilatation, Hypoplasia of the iris, Spontane... ORPHA:558
Ehlers-Danlos Syndrome, Vascular Type
Pneumothorax, Emphysema, Pulmonary bulla, Repeated pneumothoraces, Periodontitis, Keratoconus, Sp... OMIM:130050
Microsporidiosis
Cachexia, Bronchitis, Sinusitis, Myocarditis, Cholangitis, Thyroiditis, Bronchiolitis, Nephritis,... ORPHA:2552
Fabry Disease
Cornea verticillata, Emphysema, Arthritis, Corneal dystrophy, Corneal opacity, Conjunctival telan... ORPHA:324
Shigellosis
Myocarditis, Corneal ulceration, Acute colitis, Arthritis, Peritonitis, Conjunctivitis, Pneumonia... ORPHA:810
Laryngotracheoesophageal Cleft
Aspiration, Recurrent respiratory infections ORPHA:2004
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Interlobular septal thickening OMIM:614370
Rajab Interstitial Lung Disease With Brain Calcifications 1
Abnormal pulmonary interstitial morphology, Emphysema, Failure to thrive, Slender build, Small fo... OMIM:613658
Ciliary Dyskinesia, Primary, 20
Absent outer dynein arms, Recurrent otitis media, Atelectasis, Pulmonary artery stenosis, Recurre... OMIM:615067
Systemic Capillary Leak Syndrome
Myocarditis, Pulmonary edema, Pancreatitis, Pleural effusion, Pericarditis, Weight loss ORPHA:188
Hemophagocytic Lymphohistiocytosis, Familial, 4
Skin rash, Conjunctivitis OMIM:603552
Desmoplastic Small Round Cell Tumor
Cachexia, Neoplasm of the lung, Weight loss ORPHA:83469
Myotubular Myopathy With Abnormal Genital Development
Atelectasis OMIM:300219
Cryptogenic Organizing Pneumonia
Pneumothorax, Weight loss ORPHA:1302
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ... OMIM:610913
Agel Amyloidosis
Bilateral ptosis, Corneal ulceration, Lattice corneal dystrophy, Respiratory tract infection, Ble... ORPHA:85448
Anaplastic Thyroid Carcinoma
Neoplasm of the lung, Weight loss ORPHA:142
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Sparse eyelashes, Blepharitis, Sparse eyebrow, Keratitis, Conjunctivitis, Cataract OMIM:612843
Vernal Keratoconjunctivitis
Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Red eye, Punct... ORPHA:70476
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Intraalveolar phospholipid accumulation OMIM:618042
Autosomal Dominant Cutis Laxa
Emphysema, Corneal opacity, Bronchiolitis, Ptosis, Developmental cataract, Bronchiectasis, Periph... ORPHA:90348
Medullary Thyroid Carcinoma
Neoplasm of the lung, Weight loss ORPHA:1332
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Weight loss, Pulmonary fibrosis ORPHA:90060
Lacrimal Duct Defect
Lacrimal duct atresia, Sinusitis, Dacryocystitis, Conjunctivitis, Dacryocystocele OMIM:149700
Marfan Syndrome
Pneumothorax, Astigmatism, Emphysema, Microspherophakia, Hypoplasia of the iris, Downslanted palp... OMIM:154700
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Atelectasis, Skin rash, Eczematoid dermatitis, Recurrent respiratory infect... ORPHA:2314
Generalized Eruptive Keratoacanthoma
Ectropion, Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Lung abscess OMIM:610910
Whim Syndrome
Severe periodontitis, Atelectasis, Parotitis, Lymphadenitis, Bronchiectasis, Sinusitis, Recurrent... ORPHA:51636
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Red eye, Abnormal lacrimal sac morphology, Ectropion of lower ... ORPHA:141083
Muckle-Wells Syndrome
Conjunctival hyperemia, Recurrent aphthous stomatitis, Maculopapular exanthema, Conjunctivitis OMIM:191900
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Weight loss ORPHA:216866
Tenorio Syndrome
Recurrent aphthous stomatitis, Telecanthus, Recurrent pneumonia, Thick eyebrow, Keratoconjunctivi... OMIM:616260
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Failure to thrive, Interlobular septal thickening, Absen... OMIM:265120
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Autoimmune Polyendocrinopathy Type 4
Abnormal pulmonary interstitial morphology, Tubulointerstitial nephritis, Hypergonadotropic hypog... ORPHA:227990
Kawasaki Disease
Myocarditis, Cheilitis, Abnormal pulmonary interstitial morphology, Recurrent pharyngitis, Arthri... ORPHA:2331
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Emphysema, Downslanted palpebral fissures, Narrow palpebral fissure, P... OMIM:614437
Familial Cold Autoinflammatory Syndrome 1
Arthritis, Skin rash, Uveitis, Conjunctivitis OMIM:120100
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Infectious encephalitis, Conjunctivitis, Lens subluxation, Maculo... ORPHA:448237
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ... ORPHA:217563
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Recurrent respiratory infections, Weight loss ORPHA:1842
Wild Type Attr Amyloidosis
Pulmonary edema, Abnormal pulmonary interstitial morphology, Pleural effusion, Weight loss ORPHA:330001
Acrodermatitis Enteropathica
Cheilitis, Corneal erosion, Abnormal eyelid morphology, Failure to thrive, Abnormal eyebrow morph... ORPHA:37
Polymyositis
Abnormal pulmonary interstitial morphology, Arthritis, Pericarditis, Weight loss, Pulmonary fibrosis ORPHA:732
Crouzon Syndrome
Ptosis, Iris coloboma, Conjunctivitis ORPHA:207
Usmani-Riazuddin Syndrome, Autosomal Recessive
Conjunctival hyperemia, Epicanthus OMIM:619548
Farber Disease
Atelectasis, Arthritis, Corneal opacity, Failure to thrive, Cherry red spot of the macula, Recurr... ORPHA:333
Wiskott-Aldrich Syndrome
Chronic otitis media, Arthritis, Eczematoid dermatitis, Sinusitis, Inflammation of the large inte... ORPHA:906
Familial Cold Urticaria
Arthritis, Conjunctivitis ORPHA:47045
Muckle-Wells Syndrome
Recurrent aphthous stomatitis, Arthritis, Skin rash, Episcleritis, Conjunctivitis, Uveitis ORPHA:575
Atopic Keratoconjunctivitis
Corneal neovascularization, Loss of eyelashes, Abnormal eyelid morphology, Corneal opacity, Corne... ORPHA:163934
Autoimmune Polyendocrinopathy Type 3
Abnormal pulmonary interstitial morphology, Tubulointerstitial nephritis, Hypergonadotropic hypog... ORPHA:227982
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Recurrent respiratory infections, Weight loss ORPHA:3226
Trichothiodystrophy
Ectropion, Astigmatism, Microcornea, Recurrent bronchopulmonary infections, Eczematoid dermatitis... ORPHA:33364
Nasopalpebral Lipoma-Coloboma Syndrome
Telecanthus, Abnormal eyelash morphology, Corneal opacity, Conjunctival hyperemia, Sparse eyebrow... ORPHA:2399
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary interstitial morphology, Weight loss ORPHA:97287
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Recurrent lower respiratory tract infections, Myositis, Aspiration,... ORPHA:258
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Myositis, Arthritis, Skin rash, Nasal polyposis, Sinusitis, Endocarditis, Weight los... ORPHA:183
Kid Syndrome
Corneal neovascularization, Corneal erosion, Aplastic/hypoplastic lacrimal glands, Arthritis, Rec... ORPHA:477
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Acute colitis, Pleural empyema, Pleural effusion, Weight loss, Constrictive pericar... ORPHA:67
Clouston Syndrome
Sparse eyelashes, Blepharitis, Sparse eyebrow, Conjunctivitis, Cataract OMIM:129500
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Pustule, Recurrent upper and lower respiratory tract infections, Weight loss, ... ORPHA:171876
Behçet Disease
Acne, Pancreatitis, Recurrent aphthous stomatitis, Pleuritis, Myositis, Optic neuritis, Arthritis... ORPHA:117
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Arthritis, Bronchitis, Conjunctival telangiectasia, R... ORPHA:420741
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Thyroiditis, Skin rash, Pustule, Weight loss, Infectious encephalitis, Erythroderma,... ORPHA:139402
Thymoma
Myositis, Neoplasm of the lung, Rheumatoid arthritis, Weight loss, Neoplasia of the pleura, Ulcer... ORPHA:99867
Listeriosis
Myocarditis, Pyelonephritis, Arteritis, Pericarditis, Pustule, Septic arthritis, Conjunctivitis, ... ORPHA:533
Adult-Onset Still Disease
Myocarditis, Pleuritis, Arthritis, Skin rash, Pericarditis, Arthralgia/arthritis, Weight loss, In... ORPHA:829
Lambert-Eaton Myasthenic Syndrome
Impotence, Small cell lung carcinoma, Abnormality of the orbital region, Keratoconjunctivitis sicca ORPHA:43393
Lichen Planus Pemphigoides
Blepharitis, Conjunctivitis ORPHA:254478
Intestinal Dysmotility Syndrome
Cataract, Failure to thrive, Weight loss OMIM:620045
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Telecanthus, Long eyelashes, Epicanthus, Conjunctivitis, Recurrent respiratory infections ORPHA:505248
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Erdheim-Chester Disease
Xanthelasma, Abnormal pulmonary interstitial morphology, Skin rash, Pleural effusion, Ptosis, Wei... ORPHA:35687
Solitary Fibrous Tumor
Neoplasia of the pleura, Neoplasm of the lung, Weight loss ORPHA:2126
Cystic Echinococcosis
Abnormal subpleural morphology, Weight loss, Multiple pulmonary cysts, Membranous nephropathy, Pu... ORPHA:400
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cheilitis, Astigmatism, Corneal erosion, Abnormal eyelid morphology, Abnormal nasolacrimal system... ORPHA:2273
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Reticular pattern on pulmonary HRCT, Honeycomb lung, ... ORPHA:2032
Cockayne Syndrome Type 2
Male hypogonadism, Developmental cataract, Uveitis, Conjunctivitis ORPHA:90322
Whipple Disease
Myocarditis, Erectile dysfunction, Pleuritis, Myositis, Cachexia, Arthritis, Pericarditis, Infect... ORPHA:3452
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Emphysema, Broad lateral eyebrow, Downslanted palpebral fissures, Sparse eyebrow, Unilateral lung... ORPHA:500150
Pelizaeus-Merzbacher Disease
Cachexia, Recurrent respiratory infections, Failure to thrive in infancy ORPHA:702
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Discoid lupus rash, Pleural effusion, Recurrent bacterial skin infections, Lymphaden... OMIM:306400
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Failure to thrive, Conjunctivitis, Keratoconus OMIM:242150
Malt Lymphoma
Abnormal nasolacrimal system morphology, Recurrent respiratory infections, Posterior uveitis, Wei... ORPHA:52417
Dyskeratosis Congenita, X-Linked
Pterygium, Sparse eyelashes, Blepharitis, Conjunctivitis, Cataract, Pulmonary fibrosis OMIM:305000
19Q13.11 Microdeletion Syndrome
Sparse or absent eyelashes, Cachexia, Microcornea, Sparse lateral eyebrow, Failure to thrive, Cat... ORPHA:217346
Pulmonary Alveolar Microlithiasis
Pneumothorax, Pleural thickening, Bronchitis, Interlobular septal thickening, Respiratory tract i... ORPHA:60025
Leukocyte Adhesion Deficiency
Perianal abscess, Chronic oral candidiasis, Vaginitis, Severe periodontitis, Recurrent aphthous s... ORPHA:2968
Neovascular Glaucoma
Retinal vascular proliferation, Corneal stromal edema, Rubeosis iridis, Conjunctival hyperemia, C... ORPHA:94058
Acute Promyelocytic Leukemia
Stomatitis, Diffuse alveolar hemorrhage, Metrorrhagia, Weight loss ORPHA:520
Malignant Atrophic Papulosis
Arteritis, Pleural effusion, Ptosis, Peritonitis, Weight loss, Cataract ORPHA:679
Holocarboxylase Synthetase Deficiency
Eczematoid dermatitis, Perioral eczema, Weight loss, Keratoconjunctivitis ORPHA:79242
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Huntington Disease-Like 2
Weight loss ORPHA:98934
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Trichiasis, Corneal erosion, Skin rash, Conjunctival hyperemia, Co... ORPHA:95455
Chand Syndrome
Atelectasis, Ankyloblepharon ORPHA:1401
Xeroderma Pigmentosum, Complementation Group D
Ectropion, Corneal neovascularization, Entropion, Keratitis, Conjunctivitis, Cataract, Keratoconj... OMIM:278730
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Aspiration pneumonia, Failure to thrive, Keratitis, Weight loss, Tracheobronchial leiomyomatosis,... ORPHA:1018
Zygomycosis
Acute infectious pneumonia, Retinal arterial occlusion, Sinusitis, Pericarditis, Pustule, Myocard... ORPHA:73263
Galactose Epimerase Deficiency
Cataract, Weight loss ORPHA:79238
Arboleda-Tham Syndrome
Chronic otitis media, Astigmatism, Recurrent otitis media, Recurrent respiratory infections, High... OMIM:616268
Giant Cell Arteritis
Recurrent pharyngitis, Arthritis, Pericarditis, Ptosis, Abnormal pleura morphology, Weight loss ORPHA:397
Q Fever
Myocarditis, Abnormal pulmonary interstitial morphology, Pleural effusion, Hepatitis, Pericarditi... ORPHA:781
Lacrimoauriculodentodigital Syndrome 2
Lacrimal duct atresia, Absent lacrimal punctum, Lacrimal duct aplasia, Conjunctivitis OMIM:620192
Hermansky-Pudlak Syndrome
Astigmatism, Long eyelashes, Iris hypopigmentation, Weight loss, Pulmonary fibrosis, Cataract, Me... ORPHA:79430
Primary Sjögren Syndrome
Abnormal pulmonary interstitial morphology, Arteritis, Chronic active hepatitis, Myositis, Optic ... ORPHA:289390
Proteasome-Associated Autoinflammatory Syndrome 3
Panniculitis, Myositis, Arthritis, Skin rash, Sinusitis, Failure to thrive, Conjunctivitis OMIM:617591
Proteus Syndrome
Retinal hamartoma, Abnormal lung lobation, Bronchogenic cyst, Pulmonary bulla, Cachexia, Neoplasm... ORPHA:744
Primary Hepatic Neuroendocrine Carcinoma
Ptosis, Neoplasm of the lung, Weight loss ORPHA:100085
Cockayne Syndrome Type 1
Failure to thrive, Conjunctivitis, Cataract, Male hypogonadism, Uveitis ORPHA:90321
8P23.1 Microdeletion Syndrome
Pulmonary artery stenosis, Downslanted palpebral fissures, Obesity, Epicanthus, Weight loss, Upsl... ORPHA:251071
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent otitis media, Panniculitis, Parotitis, Episcleritis, Punctate opacification of the corn... OMIM:256040
Autoimmune Hypoparathyroidism
Cataract, Chronic mucocutaneous candidiasis, Conjunctivitis ORPHA:36913
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Slender build, Weight loss OMIM:613662
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Weight loss OMIM:612075
Viss Syndrome
Pneumothorax, Ectropion, Pulmonary artery aneurysm, Emphysema, Chronic gastritis, Atopic dermatit... OMIM:619472
Brucellosis
Bronchitis, Pericarditis, Anterior uveitis, Myocarditis, Failure to thrive, Weight loss, Pneumoni... ORPHA:1304
Lassa Fever
Menometrorrhagia, Conjunctivitis ORPHA:99824
Autoinflammation With Arthritis And Dyskeratosis
Corneal neovascularization, Thyroiditis, Punctate keratitis, Failure to thrive, Keratoconjunctivi... OMIM:617388
Xeroderma Pigmentosum, Variant Type
Keratitis, Ectropion, Entropion, Conjunctivitis OMIM:278750
Simple Cryoglobulinemia
Arthritis, Viral hepatitis, Pericarditis, Abnormal lung morphology, Nephritis, Weight loss, Membr... ORPHA:91139
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Xeroderma Pigmentosum, Complementation Group E
Keratitis, Ectropion, Entropion, Conjunctivitis OMIM:278740
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Recurrent respiratory infections, Atelectasis, Pulmonary fibrosis OMIM:618278
Transketolase Deficiency
Secondary amenorrhea, Seborrheic dermatitis, Conjunctivitis, Cataract, Uveitis ORPHA:488618
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Retinal arterial tortuosity, Telecanthus, Atelectasis, Highly arched eyebrow, Decre... OMIM:620371
Crouzon Syndrome
Conjunctivitis, Keratitis, Shallow orbits OMIM:123500
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Al Amyloidosis
Abnormal pulmonary interstitial morphology, Pulmonary interstitial high-resolution computed tomog... ORPHA:85443
Juvenile Dermatomyositis
Palpebral edema, Myositis, Arthritis, Skin rash, Pericarditis, Weight loss, Pulmonary fibrosis ORPHA:93672
Nasopalpebral Lipoma-Coloboma Syndrome
Upper eyelid coloboma, Telecanthus, Conjunctival hyperemia, Absent lacrimal punctum, Sparse eyebr... OMIM:167730
Chronic Graft Versus Host Disease
Recurrent corneal erosions, Pneumothorax, Keratoconjunctivitis sicca, Arthritis, Pleural effusion... ORPHA:99921
Ifap Syndrome 2
Angular cheilitis, Posterior blepharitis, Keratitis, Cataract, Keratoconjunctivitis sicca OMIM:619016
Erythrokeratodermia Variabilis
Cataract, Skin rash, Corneal opacity, Weight loss ORPHA:317
Chronic Hiccup
Weight loss ORPHA:396
Lujo Hemorrhagic Fever
Myocarditis, Atelectasis, Skin rash, Fulminant hepatitis, Rhinitis, Maculopapular exanthema ORPHA:319213
Isolated Congenital Alacrima
Corneal erosion, Lacrimal gland hypoplasia, Distichiasis, Ptosis, Keratitis, Conjunctivitis, Lacr... ORPHA:91416
Gm1 Gangliosidosis
Corneal opacity, Aspiration pneumonia, Failure to thrive, Cherry red spot of the macula, Abnormal... ORPHA:354
Pseudohypoparathyroidism Type 1B
Cataract, Conjunctivitis ORPHA:94089
Moynahan Syndrome
Cachexia, Hypogonadism ORPHA:2574
Xeroderma Pigmentosum, Complementation Group C
Keratitis, Ectropion, Entropion, Conjunctivitis OMIM:278720
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Chronic gastritis, Skin rash, Arthritis, Esophagitis, Inflammation of the large... OMIM:301074
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic oral candidiasis, Premature ovarian insufficiency, Chronic active hepatitis, Chronic muco... OMIM:240300
Isaacs Syndrome
Weight loss ORPHA:84142
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Periorbital dermoid cyst, Lacrimal duct stenosis, Conjunctivitis OMIM:615560
Adrenocortical Carcinoma
Abnormality of reproductive system physiology, Increased body weight, Lung adenocarcinoma, Weight... ORPHA:1501
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Absent eyelashes, Lacrimal duct atresia, Sparse eyelashes, Blepharitis, Conjunctivitis, Ankyloble... OMIM:106260
Xeroderma Pigmentosum, Complementation Group A
Keratitis, Ectropion, Entropion, Conjunctivitis OMIM:278700
Granulomatosis With Polyangiitis
Chronic otitis media, Prostatitis, Pancreatitis, Inflammatory abnormality of the eye, Pleuritis, ... ORPHA:900
Mcdonough Syndrome
Cachexia, Short palpebral fissure, Ptosis, Synophrys ORPHA:2471
Crimean-Congo Hemorrhagic Fever
Myocarditis, Morbilliform rash, Parotitis, Acute pancreatitis, Epididymitis, Orchitis, Conjunctiv... ORPHA:99827
Primary Intestinal Lymphangiectasia
Pleural effusion, Weight loss ORPHA:90362
Biotinidase Deficiency
Hyperventilation, Skin rash, Eczematoid dermatitis, Conjunctivitis ORPHA:79241
Perry Syndrome
Central hypoventilation, Weight loss ORPHA:178509
Immunodeficiency 31C
Chronic oral candidiasis, Chronic mucocutaneous candidiasis, Recurrent vulvovaginal candidiasis, ... OMIM:614162
Esophageal Atresia
Bronchitis, Aspiration, Esophagitis, Pulmonary hypoplasia, Failure to thrive in infancy, Recurren... ORPHA:1199
Epithelial Recurrent Erosion Dystrophy
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... ORPHA:293381
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Hypergonadotropic hypogonadism, Ptosis, Weight loss, Abnormality of the extraocular mus... ORPHA:298
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Sparse eyelashes, Epicanthus, Decreased fertility, Keratoconjunctivitis sicca OMIM:234050
Peritoneal Cystic Mesothelioma
Dyspareunia, Menorrhagia, Peritonitis, Weight loss, Metrorrhagia ORPHA:168816
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Cornelia De Lange Syndrome 6
Hair-pulling, Telecanthus, Highly arched eyebrow, Pulmonary artery atresia, Synophrys, Downslante... OMIM:620568
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Corneal scarring, Conjunctivitis OMIM:226600
Poems Syndrome
Erectile dysfunction, Hypogonadism, Pleural effusion, Weight loss ORPHA:2905
Alveolar Echinococcosis
Cutaneous abscess, Cholangitis, Weight loss, Pulmonary cyst ORPHA:284
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Attrv30M Amyloidosis
Impotence, Weight loss ORPHA:85447
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Inflammatory Bowel Disease (Crohn Disease) 1
Recurrent aphthous stomatitis, Crohn's disease, Inflammation of the large intestine, Weight loss,... OMIM:266600
Riboflavin Transporter Deficiency
Cachexia, Iris hypopigmentation, Ptosis, Hypogonadism ORPHA:97229
Glycogen Storage Disease Due To Acid Maltase Deficiency
Failure to thrive, Atelectasis, Ptosis, Respiratory tract infection ORPHA:365
Short-Rib Thoracic Dysplasia 12
Pulmonary hypoplasia, Atelectasis, Epicanthus OMIM:269860
Igg4-Related Kidney Disease
Prostatitis, Pancreatitis, Sclerosing cholangitis, Arteritis, Pleuritis, Thyroiditis, Lymphadenit... ORPHA:449395
Cogan Syndrome
Inflammatory abnormality of the eye, Episcleritis, Keratitis, Conjunctivitis, Scleritis, Uveitis ORPHA:1467
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Recurrent respiratory infections, Myositis, Cachexia, Thyroiditis, Interstitial pneumo... ORPHA:37042
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent corneal erosions, Trichiasis, Corneal ulceration, Corneal scarring, Recurrent bacterial... OMIM:148210
Huntington Disease-Like 2
Weight loss OMIM:606438
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Weight loss, Conjunctival hamartoma ORPHA:312
Acute Generalized Exanthematous Pustulosis
Cheilitis, Predominantly dermal neutrophilic infiltrate, Pustule, Conjunctivitis, Eosinophilic de... ORPHA:293173
Mulibrey Nanism
Cachexia ORPHA:2576
Trichothiodystrophy 1, Photosensitive
Microcornea, Erythroderma, Hypogonadism, Cataract, Small for gestational age, Keratoconjunctiviti... OMIM:601675
Biotinidase Deficiency
Seborrheic dermatitis, Skin rash, Recurrent skin infections, Conjunctivitis OMIM:253260
Renpenning Syndrome
Cachexia, Epicanthus, Thin eyebrow, Cataract, Upslanted palpebral fissure, Iris coloboma ORPHA:3242
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Recurrent respiratory infections, Hair-pulling, Synophrys ORPHA:447997
Trichinellosis
Skin rash, Anisocoria, Conjunctival hyperemia, Central retinal artery occlusion, Conjunctivitis ORPHA:863
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Ptosis, Downslanted palpebral fissures, Epicanthus, Failure to thrive in infancy OMIM:616801
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Oligomenorrhea, Obesity, Conjunctivitis, Cataract ORPHA:79444
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Postinfectious Vasculitis
Gastrointestinal inflammation, Bacterial endocarditis, Arthritis, Viral hepatitis, Retinal vascul... ORPHA:48435
De Sanctis-Cacchione Syndrome
Keratitis, Ectropion, Entropion, Conjunctivitis OMIM:278800
Juvenile Huntington Disease
Weight loss ORPHA:248111
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonary hypoplasia, Microcornea, Atelectasis, Repeated pneumothoraces ORPHA:536467
Sotos Syndrome
Chronic otitis media, Astigmatism, Small cell lung carcinoma, Downslanted palpebral fissures, Pul... ORPHA:821
Hypohidrotic Ectodermal Dysplasia
Inflammatory abnormality of the eye, Eczematoid dermatitis, Sinusitis, Failure to thrive, Aplasia... ORPHA:238468
Insulin-Resistance Syndrome Type B
Skin rash, Increased body weight, Decreased body weight, Abnormality of body weight, Nephritis, O... ORPHA:2298
Wilson Disease
Acute hepatitis, Arthritis, Kayser-Fleischer ring, Increased body weight, Failure to thrive, Weig... ORPHA:905
Takayasu Arteritis
Arthritis, Increased inflammatory response, Weight loss, Inflammatory abnormality of the eye ORPHA:3287
Huntington Disease
Decreased body mass index, Abnormal libido, Weight loss ORPHA:399
Pseudohypoparathyroidism Type 1A
Band keratopathy, Hypergonadotropic hypogonadism, Oligomenorrhea, Obesity, Conjunctivitis, Cataract ORPHA:79443
Acquired Hypertrichosis Lanuginosa
Abnormal eyelid morphology, Abnormal eyebrow morphology, Weight loss ORPHA:2221
Tetrasomy 12P
Telecanthus, Cachexia, Ptosis, Sparse eyebrow, Upslanted palpebral fissure ORPHA:884
Sjogren Syndrome
Rheumatoid arthritis, Tubulointerstitial nephritis, Keratoconjunctivitis sicca OMIM:270150
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoalveolar fluid, Bloo... OMIM:233450
Limb-Mammary Syndrome
Chronic irritative conjunctivitis, Lacrimal duct atresia, Blepharitis, Absent lacrimal punctum, S... ORPHA:69085
Reynolds Syndrome
Arthritis, Skin rash, Infectious encephalitis, Keratoconjunctivitis sicca ORPHA:779
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Amoebiasis Due To Free-Living Amoebae
Corneal ulceration, Sinusitis, Conjunctival hyperemia, Pustule, Respiratory tract infection, Pneu... ORPHA:68
Developmental And Epileptic Encephalopathy 100
Short palpebral fissure, Recurrent respiratory infections, Aspiration, Synophrys OMIM:619777
Erythermalgia, Primary
Keratoconjunctivitis sicca OMIM:133020
Adult Syndrome
Conjunctivitis, Eczematoid dermatitis, Nasolacrimal duct obstruction OMIM:103285
Christianson Syndrome
Cachexia, Thick eyebrow ORPHA:85278
Cryoglobulinemic Vasculitis
Arthritis, Keratoconjunctivitis sicca, Viral hepatitis ORPHA:91138
Multiple Myeloma
Pleural effusion, Weight loss ORPHA:29073
Adnp Syndrome
Bilateral ptosis, Astigmatism, Slanting of the palpebral fissure, Juvenile cataract, Aspiration, ... ORPHA:404448
22Q11.2 Deletion Syndrome
Chronic otitis media, Retinal arteriolar tortuosity, Corneal neovascularization, Abnormal lung lo... ORPHA:567
Focal Myositis
Myositis, Weight loss ORPHA:48918
Majeed Syndrome
Cachexia, Synovitis, Failure to thrive, Pustule, Osteomyelitis, Inflammatory abnormality of the s... ORPHA:77297
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Infant Botulism
Chronic otitis media, Mydriasis, Ptosis, Keratoconjunctivitis sicca ORPHA:178478
Perry Syndrome
Hypoventilation, Central hypoventilation, Weight loss OMIM:168605
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Gastritis, Crohn's disease, Skin rash, Arthritis, Bronchitis, Pustular ra... OMIM:619381
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Kikuchi-Fujimoto Disease
Myocarditis, Palpebral edema, Abnormal pulmonary interstitial morphology, Malar rash, Skin rash, ... ORPHA:50918
Recon Progeroid Syndrome
Red eye, Absent lower eyelashes, Keratoconjunctivitis sicca OMIM:620370
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Alexander Disease Type I
Cachexia, Failure to thrive ORPHA:363717
Acute Adrenal Insufficiency
Failure to thrive, Decreased female libido, Recurrent acute respiratory tract infection, Weight loss ORPHA:95409
Eosinophilic Fasciitis
Myositis, Arthritis, Fasciitis, Weight loss ORPHA:3165
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar... ORPHA:171673
Paroxysmal Hemicrania
Rhinitis, Ptosis, Palpebral edema, Conjunctival hyperemia ORPHA:157835
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Blepharitis, Failure to thrive, Recurrent pneumonia, Inflammation of the large intesti... OMIM:617718
Pseudomyxoma Peritonei
Inflammation of the large intestine, Weight loss ORPHA:26790
Progeroid Short Stature With Pigmented Nevi
Premature ovarian insufficiency, Chordee, Cataract, Allergic conjunctivitis, Small for gestationa... OMIM:176690
Kindler Epidermolysis Bullosa
Ectropion, Cheilitis, Periodontitis, Corneal opacity, Esophagitis, Inflammation of the large inte... ORPHA:2908
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Aicardi-Goutieres Syndrome 7
Recurrent lower respiratory tract infections, Arthritis, Skin rash, Chilblains, Atopic dermatitis... OMIM:615846
Pili Torti-Onychodysplasia Syndrome
Conjunctival hyperemia, Absent eyelashes, Absent eyebrow, Eczematoid dermatitis ORPHA:2890
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Sparse eyelashes, Failure to thrive, Sparse eyebrow, Inflammatory abnormality of the ... OMIM:610768
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Cataract, Ptosis, Thick eyebrow, Keratoconjunctivitis sicca OMIM:616007
Autoinflammatory Disease, Systemic, With Vasculitis
Arthritis, Parotitis, Atopic dermatitis, Failure to thrive, Epididymitis, Conjunctivitis, Colitis OMIM:620376
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Arthritis, Decreased libido, Infertility, Testicular atrophy, Weight loss, ... ORPHA:465508
Non-Functioning Paraganglioma
Hypertensive retinopathy, Weight loss ORPHA:94080
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Mucolipidosis Type Ii
Shallow orbits, Epicanthus, Otitis media, Weight loss, Recurrent respiratory infections ORPHA:576
Thymic Carcinoma
Palpebral edema, Weight loss ORPHA:99868
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Cheilitis, Atelectasis, Periodontitis, Azoospermia, Arthritis, Corneal opac... ORPHA:534
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss OMIM:191390
Marfanoid-Progeroid-Lipodystrophy Syndrome
Downslanted palpebral fissures, Ectopia lentis, Keratoconjunctivitis sicca OMIM:616914
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
African Trypanosomiasis
Myocarditis, Iritis, Myelitis, Optic neuritis, Infertility, Impotence, Pericarditis, Keratitis, W... ORPHA:3385
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Arthritis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Weight loss, ... ORPHA:324964
Dermatomyositis
Myocarditis, Abnormal pulmonary interstitial morphology, Myositis, Arthritis, Skin rash, Abnormal... ORPHA:221
Huntington Disease-Like 1
Weight loss ORPHA:157941
Mast Cell Sarcoma
Weight loss ORPHA:66661
Classic Hodgkin Lymphoma
Skin rash, Weight loss ORPHA:391
Nijmegen Breakage Syndrome
Cachexia, Abnormal eyelid morphology, Recurrent pneumonia, Recurrent sinopulmonary infections, Re... ORPHA:647
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Aspiration pneumonia, Recurrent respiratory infections, Weight loss ORPHA:2020
Porphyria, Congenital Erythropoietic
Absent eyebrow, Loss of eyelashes, Corneal scarring, Conjunctivitis OMIM:263700
Herpes Simplex Virus Stromal Keratitis
Corneal stromal edema, Descemet Membrane Folds, Conjunctival hyperemia, Herpetiform corneal ulcer... ORPHA:137599
Congenital Tufting Enteropathy
Corneal erosion, Arthritis, Punctate keratitis, Failure to thrive, Weight loss, Cataract ORPHA:92050
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Palpebral edema, Abnormal lacrimal duct morphology, Abnormality of the ... ORPHA:79078
Leishmaniasis
Rhinitis, Weight loss ORPHA:507
Primary Sclerosing Cholangitis
Pancreatitis, Thyroiditis, Pleural effusion, Ulcerative colitis, Weight loss, Hepatitis, Uveitis ORPHA:171
Benign Recurrent Intrahepatic Cholestasis
Pancreatitis, Weight loss ORPHA:65682
Digeorge Syndrome
Short palpebral fissure, Recurrent otitis media, Atelectasis, Seborrheic dermatitis, Posterior em... OMIM:188400
Rhabdoid Tumor
Weight loss ORPHA:69077
Short Syndrome
Telecanthus, Corneal opacity, Megalocornea, Hypoplasia of the iris, Posterior embryotoxon, Weight... ORPHA:3163
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Ptosis, Epicanthus OMIM:618186
Primary Fanconi Renotubular Syndrome
Weight loss, Pulmonary fibrosis ORPHA:3337
Leptospirosis
Optic neuritis, Skin rash, Pleural effusion, Conjunctival hyperemia, Pericarditis, Pulmonary hemo... ORPHA:509
Ogden Syndrome
Bilateral ptosis, Pulmonary edema, Recurrent otitis media, Aspiration, Abnormal eyelid morphology... OMIM:300855
Onychotrichodysplasia And Neutropenia
Short eyelashes, Chronic irritative conjunctivitis, Curly eyelashes OMIM:258360
Ring Chromosome 10 Syndrome
Cachexia, Downslanted palpebral fissures ORPHA:1438
Grfoma
Neoplasm of the lung, Weight loss ORPHA:97261
Sunct Syndrome
Conjunctival hyperemia, Palpebral edema, Ptosis ORPHA:57145
Pontine Tegmental Cap Dysplasia
Failure to thrive, Aspiration, Ptosis OMIM:614688
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Ptosis ORPHA:1933
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Bullous Pemphigoid
Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis ORPHA:703
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Downslanted palpebral fissures, Severe failure to thrive ORPHA:371364
Cronkhite-Canada Syndrome
Cataract, Cachexia, Aplasia/Hypoplasia of the eyebrow ORPHA:2930
Cap Polyposis
Weight loss, Atrophic gastritis ORPHA:160148
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormal pulmonary interstitial morphology, Azoospermia, Cachexia, Bacterial endocarditis, Cornea... ORPHA:2072
Celiac Disease, Susceptibility To, 1
Recurrent aphthous stomatitis, Stomatitis, Thyroiditis, Infertility, Eczematoid dermatitis, Failu... OMIM:212750
Flynn-Aird Syndrome
Cataract, Cachexia ORPHA:2047
Acrofacial Dysostosis, Cincinnati Type
Pulmonary artery aneurysm, Recurrent otitis media, Upper eyelid coloboma, Pterygium, Aspiration, ... OMIM:616462
Autoimmune Polyendocrine Syndrome, Type Ii
Band keratopathy, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis, Cat... OMIM:269200
Lacrimoauriculodentodigital Syndrome
Recurrent corneal erosions, Corneal neovascularization, Abnormal lacrimal duct morphology, Hypopl... ORPHA:2363
Graves Disease
Weight loss OMIM:275000
Classical-Like Ehlers-Danlos Syndrome Type 2
Bilateral ptosis, Astigmatism, Keratoconjunctivitis sicca, Periodontitis ORPHA:536532
Tay-Sachs Disease
Aspiration, Cherry red spot of the macula OMIM:272800
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Telecanthus ORPHA:2774
Plague
Mydriasis, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia, Arthritis,... ORPHA:707
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Hereditary Acrokeratotic Poikiloderma
Ectropion, Keratoconjunctivitis, Eczematoid dermatitis, Pustule, Opacification of the corneal stroma ORPHA:2907
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Synophrys, Downslanted palpebral fissures, Obesity, Epicanthus, Hypogonadism, Blepharop... ORPHA:85293
Rat-Bite Fever
Morbilliform rash, Myocarditis, Pancreatitis, Arthritis, Skin rash, Parotitis, Lymphadenitis, Per... ORPHA:31205
Abetalipoproteinemia
Failure to thrive, Ptosis, Keratoconjunctivitis sicca, Corneal ulceration ORPHA:14
Aredyld Syndrome
Cachexia, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow ORPHA:1133
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Weight loss, Colitis ORPHA:309031
Developmental And Epileptic Encephalopathy 38
Aspiration, Attenuation of retinal blood vessels OMIM:617020
Halperin-Birk Syndrome
Failure to thrive, Aspiration, Developmental cataract, Long eyelashes OMIM:618651
Eosinophilic Gastroenteritis
Atopic dermatitis, Weight loss, Allergic rhinitis ORPHA:2070
Hepatoerythropoietic Porphyria
Ectropion, Loss of eyelashes, Corneal ulceration, Keratoconjunctivitis, Recurrent bacterial skin ... ORPHA:95159
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Telecanthus, Recurrent bronchitis, Eczematoid dermatitis, Long palpebral fissure, R... OMIM:620330
Cockayne Syndrome
Corneal ulceration, Malar rash, Cachexia, Band keratopathy, Developmental cataract, Retinal arter... ORPHA:191
Lacrimoauriculodentodigital Syndrome 1
Recurrent corneal erosions, Lacrimal gland aplasia, Hypoplasia of the lacrimal punctum, Telecanth... OMIM:149730
Osteosarcoma
Weight loss ORPHA:668
Secondary Short Bowel Syndrome
Failure to thrive, Enterocolitis, Weight loss ORPHA:95427
Oromandibular Dystonia
Blepharospasm, Weight loss ORPHA:93958
Nodular Non-Suppurative Panniculitis
Panniculitis, Weight loss, Inflammatory abnormality of the eye ORPHA:33577
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Highly arched eyebrow, Conjunctival hyperemia OMIM:619121
Loeffler Endocarditis
Pericarditis, Weight loss ORPHA:75566
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Horner syndrome, Weight loss OMIM:256700
Vocal Cord And Pharyngeal Distal Myopathy
Aspiration, Abnormality of the extraocular muscles ORPHA:600
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Aggressive Systemic Mastocytosis
Maculopapular exanthema, Weight loss ORPHA:98850
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Trichiasis, Pneumonia, Highly arched eyebrow, Aspiration, Corneal scarring, Failure to thrive, Ob... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Trichiasis, Pneumonia, Highly arched eyebrow, Aspiration, Corneal scarring, Failure to thrive, Ob... ORPHA:353277
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Igg4-Related Aortitis
Increased inflammatory response, Weight loss ORPHA:449400
Cleft Larynx, Posterior
Aspiration OMIM:215800
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Oligozoospermia, Hypogonadism, Weight loss, Tubulointerstitial nephritis ORPHA:85450
Liposarcoma
Weight loss ORPHA:69078
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Chilblains, Failure to thrive, Pericarditis, Weight loss OMIM:619487
Spinocerebellar Ataxia Type 8
Aspiration, Impotence ORPHA:98760
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Knee osteoarthritis, Arthritis, Synovitis, Enthesitis, Weight loss, Iridocycl... ORPHA:85408
Tsh-Secreting Pituitary Adenoma
Male hypogonadism, Erectile dysfunction, Decreased fertility in males, Infertility, Impotence, Fe... ORPHA:91347
Cockayne Syndrome Type 3
Corneal ulceration, Microcornea, Cataract, Keratoconjunctivitis sicca, Lentiglobus ORPHA:90324
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Rett Syndrome
Cachexia, Intermittent hyperventilation OMIM:312750
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Failure to thrive, Aspiration OMIM:618922
Congenital Erythropoietic Porphyria
Ectropion, Loss of eyelashes, Corneal ulceration, Keratoconjunctivitis, Recurrent bacterial skin ... ORPHA:79277
Ménétrier Disease
Giant hypertrophic gastritis, Weight loss ORPHA:2494
Stickler Syndrome
Chronic otitis media, Astigmatism, Telecanthus, Cachexia, Slender build, Ectopia lentis, Osteoart... ORPHA:828
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Synophrys, Laterally extended eyebrow, Keratoconjunctivitis sicca, Long eyelashes OMIM:618479
Late-Onset Isolated Acth Deficiency
Premature ovarian insufficiency, Failure to thrive, Hashimoto thyroiditis, Weight loss, Hepatitis ORPHA:199299
Oculogastrointestinal Muscular Dystrophy
Cachexia, Ptosis ORPHA:1876
Phacoanaphylactic Uveitis
Abnormal corneal endothelium morphology, Corneal stromal edema, Posterior uveitis, Red eye, Conju... ORPHA:209959
X-Linked Creatine Transporter Deficiency
Cachexia, Ptosis ORPHA:52503
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Esophagitis, Failure to thrive, Aspiration, Small for gestational age ORPHA:96182
Oculopharyngodistal Myopathy 1
Bilateral ptosis, Aspiration, Ptosis, Weight loss OMIM:164310
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Cachexia, Corneal scarring, Failure to thrive, Attenuation of re... OMIM:610965
Refractory Celiac Disease
Inflammatory abnormality of the skin, Weight loss ORPHA:398063
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Corneal dystrophy, Corneal opacity, Synophrys, Long eyelashes, Sparse eyebrow, Ker... ORPHA:495875
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Neuromuscular Oculoauditory Syndrome
Aspiration, Epicanthus OMIM:618733
Alternating Hemiplegia Of Childhood
Failure to thrive, Aspiration, Mydriasis, Thin eyebrow ORPHA:2131
Imerslund-Gräsbeck Syndrome
Angular cheilitis, Failure to thrive, Weight loss ORPHA:35858
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertensive retinopathy, Weight loss ORPHA:276621
Infantile Krabbe Disease
Cachexia, Failure to thrive, Cherry red spot of the macula ORPHA:206436
Peripheral Primitive Neuroectodermal Tumor
Metrorrhagia, Pancreatitis, Weight loss ORPHA:370348
Hyperekplexia 1
Aspiration OMIM:149400
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss, Azoospermia ORPHA:361
Igg4-Related Retroperitoneal Fibrosis
Deep dermal perivascular inflammatory infiltrate, Retrograde ejaculation, Impotence, Rheumatoid a... ORPHA:49041
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Slender build, Ptosis, Weight loss OMIM:603041
Budd-Chiari Syndrome
Peritonitis, Cholecystitis, Weight loss ORPHA:131
Classic Progressive Supranuclear Palsy Syndrome
Conjunctival hyperemia, Blepharospasm ORPHA:240071
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Hereditary Pheochromocytoma-Paraganglioma
Hypertensive retinopathy, Retinal capillary hemangioma, Aniridia, Weight loss ORPHA:29072
Fatal Familial Insomnia
Weight loss OMIM:600072
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Wolman Disease
Cachexia ORPHA:75233
Monosomy 22Q13.3
Palpebral edema, Hair-pulling, Long eyelashes, Ptosis, Obesity, Recurrent pyelonephritis, Thick e... ORPHA:48652
Opitz Gbbb Syndrome
Aspiration, Telecanthus OMIM:300000
Fanconi Anemia
Short palpebral fissure, Astigmatism, Azoospermia, Abnormal eyelid morphology, Decreased fertilit... ORPHA:84
Amyotrophic Lateral Sclerosis 21
Aspiration OMIM:606070
Idiopathic Panuveitis
Cataract, Conjunctival hyperemia, Red eye, Posterior synechiae of the anterior chamber ORPHA:280921
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Renal Nutcracker Syndrome
Infertility, Dysmenorrhea, Dyspareunia, Weight loss ORPHA:71273
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Primary Myelofibrosis
Cachexia ORPHA:824
Cushing Syndrome Due To Ectopic Acth Secretion
Amenorrhea, Small cell lung carcinoma, Secondary amenorrhea, Increased body weight, Oligomenorrhe... ORPHA:99889
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Silver-Russell Syndrome
Cachexia, Obesity, Failure to thrive in infancy ORPHA:813
Neuroblastoma
Horner syndrome, Weight loss ORPHA:635
Caroli Disease
Cholangitis, Weight loss, Conjunctival icterus ORPHA:53035
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Cachexia OMIM:175500
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration ORPHA:2148
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Cataract, Ptosis, Weight loss OMIM:607459
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Weight loss ORPHA:20
Beta-Ketothiolase Deficiency
Weight loss ORPHA:134
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Aspiration, Corneal scarring OMIM:614653
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Schwartz-Jampel Syndrome
Cachexia, Microcornea, Decreased body weight, Blepharospasm, Distichiasis, Ptosis, Abnormal eyebr... ORPHA:800
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Weight loss OMIM:301310
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Rett Syndrome, Congenital Variant
Aspiration OMIM:613454
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Tubulointerstitial Nephritis And Uveitis Syndrome
Iris nevus, Skin rash, Posterior uveitis, Red eye, Retinal vasculitis, Nongranulomatous uveitis, ... ORPHA:91500
Intellectual Developmental Disorder, Autosomal Dominant 38
Downslanted palpebral fissures, Hair-pulling, Epicanthus OMIM:616393
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Ptosis, Osteoarthritis, Epicanthus, Menometrorrhagia, Decreased fertility, Keratocon... ORPHA:285
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia, Ptosis ORPHA:3217
Trisomy 18
Cachexia, Microcornea, Epicanthus, Cataract, Blepharophimosis, Iris coloboma ORPHA:3380
Lysosomal Acid Lipase Deficiency
Cachexia, Failure to thrive, Xanthelasma, Weight loss ORPHA:275761
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Trichotillomania
Hair-pulling OMIM:613229
Amyotrophic Lateral Sclerosis
Cachexia ORPHA:803
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Familial Colorectal Cancer Type X
Weight loss ORPHA:440437
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Chronic otitis media, Recurrent otitis media, Medial flaring of the eyebrow, Telecanthus, Aspirat... OMIM:619503
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Addison Disease
Premature ovarian insufficiency, Failure to thrive, Hashimoto thyroiditis, Weight loss, Decreased... ORPHA:85138
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Bilateral ptosis, Weight loss ORPHA:99885
Cystinosis, Nephropathic
Recurrent corneal erosions, Male infertility, Failure to thrive, Corneal crystals, Weight loss, F... OMIM:219800
Klatskin Tumor
Weight loss ORPHA:99978
Pyomyositis
Myositis, Recurrent cutaneous abscess formation, Weight loss ORPHA:764
Polycythemia Vera
Weight loss ORPHA:729
Gallbladder Neuroendocrine Tumor
Cholecystitis, Weight loss ORPHA:100086
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia, Hashimoto thyroiditis ORPHA:109
Seckel Syndrome
Cachexia, Downslanted palpebral fissures ORPHA:808
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Loss of eyelashes, Corneal ulceration, Corneal opacity, Delayed menarch... ORPHA:740
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal ovarian physiology, Failure to thrive, Oligomenorrhea, Weight loss, Acne, Abnormality of... ORPHA:90794
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Skin rash ORPHA:220295
Castleman Disease
Weight loss ORPHA:160
Marburg Hemorrhagic Fever
Pancreatitis, Arthritis, Skin rash, Pericarditis, Conjunctival hyperemia, Orchitis, Maculopapular... ORPHA:99826
Choreoacanthocytosis
Arthritis, Blepharospasm, Hair-pulling, Weight loss ORPHA:2388
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Ptosis ORPHA:1969
Tropical Pancreatitis
Chronic calcifying pancreatitis, Weight loss ORPHA:103918
Systemic Lupus Erythematosus
Cheilitis, Malar rash, Arthritis, Discoid lupus rash, Weight loss, Serositis, Lupus nephritis ORPHA:536
Familial Thrombocytosis
Weight loss ORPHA:71493
Bilateral Perisylvian Polymicrogyria
Aspiration ORPHA:98889
Glucagonoma
Stomatitis, Skin rash, Weight loss ORPHA:97280
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Juvenile Polyposis Of Infancy
Cachexia, Downslanted palpebral fissures ORPHA:79076
Parathyroid Carcinoma
Pancreatitis, Weight loss ORPHA:143
Multiple Endocrine Neoplasia Type 1
Amenorrhea, Impotence, Weight loss, Decreased male libido ORPHA:652
Zollinger-Ellison Syndrome
Esophagitis, Weight loss ORPHA:913
Pancreatoblastoma
Weight loss ORPHA:677
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Ppoma
Weight loss ORPHA:97278
Norrie Disease
Erectile dysfunction, Aplasia/Hypoplasia of the lens, Cachexia, Corneal opacity, Hypoplasia of th... ORPHA:649
Somatostatinoma
Weight loss ORPHA:97283
Vipoma
Weight loss ORPHA:97282
Lynch Syndrome
Weight loss ORPHA:144
Camurati-Engelmann Disease
Cachexia, Slender build, Hypogonadism ORPHA:1328
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565

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 Sftpc

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 Sftpc.

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

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
Sftpctm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sftpctm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Sftpctm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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