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Gene: Col3a1 MGI:88453

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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:
collagen, type III, alpha 1
Synonyms:
Tsk-2,  Col3a-1,  Tsk2

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 Col3a1 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 Col3a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Varicose veins, Pulmonic stenosis, Camptodactyly, Vascular dilatation OMIM:618343
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Telangiectasia of the skin, Transient ischemic attack, Arterial... ORPHA:286
Ehlers-Danlos Syndrome, Vascular Type
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Descending aortic dissection, A... OMIM:130050
Acrogeria
Excessive wrinkled skin, Skin ulcer ORPHA:2500

The table below shows human diseases predicted to be associated to Col3a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Fibromuscular Dysplasia, Arterial
Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse... OMIM:135580
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea OMIM:619398
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending ao... ORPHA:229
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent gast... OMIM:615615
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Colitis, Min... OMIM:617006
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopeni... OMIM:619164
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... OMIM:613953
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis... OMIM:618204
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Atrial fibrillation, Thoracic aortic aneurysm, Aortic tortuosity OMIM:616166
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Descending aortic dissection, Small thenar eminence, Ascending aortic dissectio... OMIM:620080
Chilblain Lupus 2
Chilblains OMIM:614415
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Aortic Valve Disease 3
Aortic valve stenosis, Ascending aortic dissection, Aortic root aneurysm OMIM:618496
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Aortic Valve Disease 2
Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc... OMIM:614823
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Aortic dissection, Transient ischemic attack, Subarachnoid hemorrhage, Desc... ORPHA:91387
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Monocytosis, Inflammation of t... OMIM:619281
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand, Pruritis on b... ORPHA:64745
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, T lymphocytopenia, Inflammation... OMIM:618108
Ehlers-Danlos Syndrome, Hypermobility Type
Soft skin, Osteoarthritis, Hyperextensible skin, Striae distensae OMIM:130020
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Erythema,... ORPHA:90160
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, H... OMIM:300635
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu... ORPHA:3400
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis,... OMIM:617638
Immunodeficiency 70
Celiac disease, Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-posi... OMIM:618969
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Mass Syndrome
Ascending aortic dissection, Aortic aneurysm OMIM:604308
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic di... OMIM:619825
Huriez Syndrome
Dry skin, Lack of skin elasticity ORPHA:384
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Mucoid diarrhea, Crohn's disease, Decreased proportion of cl... OMIM:615767
Elastoderma
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa ORPHA:228240
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Microcytic anemia, Hepatosplenomegaly, Cystic acne, Arthritis, Sterile arthri... OMIM:604416
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Lamellar Ichthyosis
Pruritus, Lack of skin elasticity, Erythroderma, Chronic otitis media, Dry skin ORPHA:313
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Dermatitis, Atopic
Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic dermatitis, Facial erythem... OMIM:603165
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... ORPHA:79147
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... OMIM:175050
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Left ventricular outflow tract obstruction, Tetralogy of Fallot, Coarctati... OMIM:615779
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Decrea... OMIM:618394
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Familial Bicuspid Aortic Valve
Aortic regurgitation, Aortic arch aneurysm, Heart murmur, Coarctation of aorta, Hypertension, Asc... ORPHA:402075
Quinquaud Folliculitis Decalvans
Pustule, Erythema, Recurrent skin infections ORPHA:346
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,... ORPHA:90158
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Erythema,... ORPHA:90159
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... ORPHA:3342
Classic Phenylketonuria
Eczema, Lack of skin elasticity ORPHA:79254
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema ORPHA:222
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... ORPHA:911
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia OMIM:614493
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Iron deficiency anemia,... OMIM:301074
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Bronchiectasis OMIM:608957
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Antisynthetase Syndrome
Myositis, Skin rash, Pruritus, Myocarditis, Lack of skin elasticity, Keratoconjunctivitis sicca ORPHA:81
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Colitis, Hemophagocytosis, Recurrent sinusiti... OMIM:613101
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia,... OMIM:616433
Immunodeficiency 53
Recurrent otitis media, Recurrent pneumonia, Skin rash OMIM:617585
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Aortic dissection, ... ORPHA:397
Ichthyosis Vulgaris
Eczematoid dermatitis, Dry skin OMIM:146700
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle fiber atrophy, Decreased muscle mass, Congestive heart failure, Elbow flexion contracture,... ORPHA:1900
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613736
Immunodeficiency 48
Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Eczematoid dermatitis OMIM:269840
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Erythema, Septic arthritis ORPHA:36237
Ulerythema Ophryogenesis
Dry skin, Acne, Contact dermatitis, Facial erythema ORPHA:3406
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis OMIM:606445
Pseudoxanthoma Elasticum
Acne, Skin rash, Pruritus, Lack of skin elasticity, Excessive wrinkled skin, Multiple lipomas, Hy... ORPHA:758
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Loeys-Dietz Syndrome 4
Torticollis, Arterial tortuosity, Ascending tubular aorta aneurysm, Aortic root aneurysm, Aortic ... OMIM:614816
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Rectal prolapse, Skin ulcer, Neoplasm of the lung, Neoplasm of the liver, Intestin... ORPHA:424019
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Villous atrophy, Skin rash, Feeding difficulties in infancy, Splenomegaly, Secretor... OMIM:616050
Esophagitis, Eosinophilic, 1
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:613412
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Lack of skin elasticity ORPHA:1366
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... OMIM:243150
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Erythema, Malar rash,... ORPHA:330058
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis, Decreased proportion of class-switch... OMIM:614878
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Skin ulcer, Arthritis ORPHA:231
Stiff Skin Syndrome
Lipoatrophy, Lack of skin elasticity ORPHA:2833
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Lack of f... ORPHA:90156
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Pruritis on hand... ORPHA:90280
Ehlers-Danlos Syndrome, Classic Type, 2
Soft, doughy skin, Recurrent sinusitis, Hyperextensible skin, Soft skin OMIM:130010
Chilblain Lupus 1
Chilblains, Skin ulcer OMIM:610448
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Lack of skin elasticity ORPHA:1979
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Right aortic arch, Pulmonic stenosis, Pulmonary artery atresi... OMIM:618780
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Esophageal stenosis, Colitis OMIM:615190
Mal De Meleda
Inflammatory abnormality of the skin, Erythema, Superficial dermal perivascular inflammatory infi... ORPHA:87503
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... ORPHA:263665
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Varicose veins, Pulmonic stenosis, Camptodactyly, Vascular dilatation OMIM:618343
Immunodeficiency 104
Pneumonia, Eczema, Chronic mucocutaneous candidiasis, Otitis media, Recurrent otitis media OMIM:608971
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lack of skin elasticity OMIM:615381
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Anal fissure, Perianal abscess, Splenomega... OMIM:618935
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Elastosis Perforans Serpiginosa
Crusting erythematous dermatitis, Cutis laxa ORPHA:79148
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... OMIM:614700
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... ORPHA:2686
Acral Peeling Skin Syndrome
Erythema, Eczema, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Mycosis Fungoides
Pruritus, Erythema, Eczema, Psoriasiform dermatitis OMIM:254400
Congenital Factor Xii Deficiency
Penetrating foot ulcers, Retinal arteriolar occlusion ORPHA:330
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Erythema, Rheumatoid arthritis ORPHA:79099
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... ORPHA:1209
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pure red cell a... ORPHA:436159
Cutis Laxa, Autosomal Recessive, Type Iib
Excessive wrinkled skin, Redundant skin, Lack of skin elasticity OMIM:612940
Leri Pleonosteosis
Lack of skin elasticity ORPHA:2900
Loeys-Dietz Syndrome
Cardiac arrest, Camptodactyly of finger, Arterial tortuosity, Patent ductus arteriosus, Aortic di... ORPHA:60030
Acquired Ichthyosis
Pruritus, Erythema, Recurrent skin infections, Dry skin ORPHA:454
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Hyperextensible skin, Petechiae, Striae distensae OMIM:225310
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... OMIM:601612
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis, Abdominal pain, Leukocytosis,... ORPHA:67
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Vasculitis, Arterial stenosis, ... ORPHA:3287
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Abnormal lung morphology, Erythema, Skin... ORPHA:767
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronchiectasis, ... OMIM:618282
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Feeding difficulties in infancy, Increased T cell count, Chronic diarrhea, Chronic mucocu... ORPHA:98813
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Coarctation of aorta, Ri... OMIM:613854
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Vomi... ORPHA:37042
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Erythema, Skin rash, Purpura ORPHA:889
Intellectual Developmental Disorder, Autosomal Dominant 62
Striae distensae OMIM:618793
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ... OMIM:618999
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Tachycardia, Abnormal coronary artery morphology, Cardia... ORPHA:860
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Arterial tortuosity, Patent d... ORPHA:284984
Immunodeficiency 66
Pustule, Recurrent skin infections OMIM:618847
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Arthritis, Crohn's disease ORPHA:69126
Shigellosis
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomi... ORPHA:810
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte... OMIM:610168
Meester-Loeys Syndrome
Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic... OMIM:300989
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... OMIM:613795
Werner Syndrome
Lipoatrophy, Lipodystrophy, Lack of skin elasticity, Skin ulcer ORPHA:902
Costello Syndrome
Redundant skin, Lack of skin elasticity ORPHA:3071
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology ORPHA:1455
Immunodeficiency 92
Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased proportion of cl... OMIM:619652
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis OMIM:147050
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
8Q22.1 Microdeletion Syndrome
Lack of skin elasticity ORPHA:178303
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Left ventricular outflow... ORPHA:99050
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Recurrent skin infections, Atopic dermatitis, Cutaneous abscess OMIM:618944
Classic Mycosis Fungoides
Skin rash, Eczema, Pruritus, Erythema, Skin ulcer, Dry skin ORPHA:2584
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Coarctation of aorta, Calf muscle h... OMIM:619178
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash OMIM:619175
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Increased number of skin folds, Redundant skin, Cutis laxa ORPHA:436274
Immunodeficiency 50
Eczema OMIM:300988
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Peeling Skin Syndrome 6
Pruritus, Atopic dermatitis, Dry skin, Scaling skin OMIM:618084
Buerger Disease
Vasculitis, Skin ulcer ORPHA:36258
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma ORPHA:330064
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Myeloid leukemia ORPHA:48104
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh... OMIM:615607
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Decreased mean platelet volume, Bloody diarrhea, Hematochezia, In... OMIM:617718
Non-Epidermolytic Palmoplantar Keratoderma
Erythema, Skin ulcer ORPHA:2337
Erythema Elevatum Diutinum
Skin vesicle, Skin rash ORPHA:90000
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Coarctation of aorta OMIM:616069
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Splenomegaly, Vasculitis, Skin ulcer,... ORPHA:91138
Cutaneous Collagenous Vasculopathy
Pruritus, Erythema, Skin rash, Petechiae ORPHA:280779
Aorta Coarctation
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... ORPHA:1457
Marfan Syndrome
Skeletal muscle atrophy, Congestive heart failure, Descending aortic dissection, Dilatation of an... ORPHA:558
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Bronchiectasis, Facial erythema, Arthritis, Recurrent otitis medi... OMIM:620321
Marfan Syndrome
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Congestive heart failure, F... OMIM:154700
Mitral Valve Prolapse 1
Striae distensae OMIM:157700
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... ORPHA:185
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Acute colitis, Abdominal pain, Intestinal perforation, Pancreatitis, Leukocytosi... ORPHA:90038
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Congestive heart failure, ... ORPHA:3092
Reticular Dysgenesis
Recurrent respiratory infections, Skin ulcer, Malabsorption ORPHA:33355
Conotruncal Heart Malformations
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... OMIM:217095
Loeys-Dietz Syndrome 5
Scapular winging, Decreased muscle mass, Mitral regurgitation, Aortic root aneurysm, Ascending ao... OMIM:615582
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Recurrent bronchitis OMIM:604571
Limited Cutaneous Systemic Sclerosis
Gastroesophageal reflux, Pulmonary fibrosis, Skin ulcer, Dysphagia ORPHA:220402
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Erythema, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatiti... OMIM:147060
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Pneumonia, Skin ulcer, Anal canal squamous carcinoma, Recurrent... ORPHA:217390
Epidermolytic Hyperkeratosis 1
Scaling skin, Erythroderma OMIM:113800
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... OMIM:619381
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Eczema ORPHA:2101
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Colitis OMIM:614602
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Transient ischemic attack, Coronary artery calcification,... ORPHA:51608
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosum, Bronchi... OMIM:616576
Infantile Myofibromatosis
Neoplasm of the pancreas, Intestinal obstruction, Tracheoesophageal fistula, Skin ulcer, Neoplasm... ORPHA:2591
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... OMIM:618131
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis, Hypertrophic cardiomyo... ORPHA:848
Partial Atrioventricular Septal Defect
Atrial flutter, Angina pectoris, Transient ischemic attack, Patent ductus arteriosus, Tetralogy o... ORPHA:1330
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting OMIM:616809
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Pemphigus Foliaceus
Psoriasiform dermatitis, Pruritus, Pustule, Erythema, Crusting erythematous dermatitis, Scaling s... ORPHA:79481
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Autoimmune Lymphoproliferative Syndrome
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... ORPHA:3261
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Skin ulcer, Abnormal cerebral vascular morphology, Purpura ORPHA:743
Weill-Marchesani Syndrome 2
Congestive heart failure, Patent ductus arteriosus, Elbow flexion contracture, Mitral regurgitati... OMIM:608328
Baralle-Macken Syndrome
Striae distensae OMIM:619255
Transaldolase Deficiency
Coarctation of aorta, Biventricular hypertrophy, Hepatosplenomegaly, Cirrhosis, Atrial septal def... ORPHA:101028
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Skin rash, Splenomegaly, Erythroderma, Anemia, Colitis, Hemophagocytosis... ORPHA:540
Protoporphyria, Erythropoietic, 1
Pruritus, Erythema, Eczema OMIM:177000
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Scaling skin ORPHA:90283
Isolated Agammaglobulinemia
Recurrent respiratory infections, Pneumonia, Skin ulcer, Malabsorption ORPHA:229717
Pityriasis Rubra Pilaris
Pruritus, Pustule, Eczema, Erythroderma ORPHA:2897
Loeys-Dietz Syndrome 1
Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Aortic root an... OMIM:609192
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Splenomegaly, F... ORPHA:2137
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Hypoperistalsis,... OMIM:613834
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Villous atrophy, Inflammatory abnormality of the skin, Eczema, Autoi... ORPHA:391487
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... OMIM:208530
Bullous Pemphigoid
Erythema, Eczema, Psoriasiform dermatitis ORPHA:703
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o... ORPHA:324964
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Porphyria Cutanea Tarda, Type I
Eczema OMIM:176090
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totali... OMIM:616749
Aicardi-Goutieres Syndrome 5
Chilblains, Dry skin, Scaling skin OMIM:612952
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Skin ulcer, Neoplasm of the lung, Neop... ORPHA:424016
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... ORPHA:3405
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Pustule, Perioral erythema, Erythroderma, Blepharitis OMIM:614328
Juvenile Hyaline Fibromatosis
Abnormality of the gastrointestinal tract, Skin ulcer ORPHA:2028
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... ORPHA:284426
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Pustule, Ulcerative colitis, Cutaneous abscess ORPHA:555905
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Chronic Granulomatous Disease
Recurrent respiratory infections, Hepatomegaly, Liver abscess, Malabsorption, Pyloric stenosis, S... ORPHA:379
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnorm... ORPHA:1166
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta ORPHA:261243
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Redundant skin, Cutis laxa ORPHA:91135
Autosomal Recessive Cutis Laxa Type 1
Redundant skin, Recurrent pneumonia, Lack of skin elasticity, Pyelonephritis, Cutis laxa ORPHA:90349
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Osteogenesis Imperfecta
Aortic regurgitation, Cerebral hemorrhage, Flexion contracture, Aortic root aneurysm, Aortic diss... ORPHA:666
Lichen Planopilaris
Abnormal intestine morphology, Hepatitis, Skin ulcer ORPHA:525
Autosomal Erythropoietic Protoporphyria
Pruritus, Erythema, Eczema ORPHA:79278
Dermatitis Herpetiformis
Skin vesicle, Erythema, Eczema, Pruritus ORPHA:1656
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Telangiectasia of the skin, Transient ischemic attack, Arterial... ORPHA:286
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Erythema, Skin ulcer ORPHA:542592
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Aortic arch aneurysm, Myocardial infarction, Coarctation of aorta, Gastroi... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Aortic arch aneurysm, Myocardial infarction, Coarctation of aorta, Gastroi... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Aortic arch aneurysm, Myocardial infarction, Coarctation of aorta, Gastroi... ORPHA:99228
Monosomy X
Prolonged QT interval, Aortic arch aneurysm, Myocardial infarction, Coarctation of aorta, Gastroi... ORPHA:99226
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Skin ulcer ORPHA:139578
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition... OMIM:620294
Maxillonasal Dysplasia
Striae distensae ORPHA:1248
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Pellagra-Like Syndrome
Skin rash OMIM:260650
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Pancolitis, Bloody di... OMIM:618213
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Pruritus, Dry skin, Blepharitis, Eczema OMIM:618535
X-Linked Agammaglobulinemia
Malabsorption, Abnormal lung morphology, Recurrent pneumonia, Hepatitis, Skin ulcer, Glossoptosis ORPHA:47
Free Sialic Acid Storage Disease
Splenomegaly, Recurrent respiratory infections, Skin ulcer, Hepatomegaly ORPHA:834
Reynolds Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Skin ulcer, Gastroesophag... ORPHA:779
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Neu-Laxova Syndrome
Lack of skin elasticity ORPHA:2671
Familial Cervical Artery Dissection
Striae distensae ORPHA:36382
Neutrophilic Dermatosis, Acute Febrile
Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Acne inversa OMIM:608068
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lack of skin elasticity ORPHA:90153
Sepsis In Premature Infants
Splenomegaly, Leukocytosis, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abn... ORPHA:90051
Cardiac Diverticulum
Ventricular tachycardia, Pulmonary artery hypoplasia, Abnormal EKG, Patent ductus arteriosus, Pul... ORPHA:1686
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Beta-Thalassemia Intermedia
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, A... ORPHA:231222
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, High, narrow palate, Abnormal lung lobation, Cleft palate, Abnormal ao... ORPHA:2516
Prolidase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Recurr... OMIM:170100
Aortic Arch Interruption
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... ORPHA:2299
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Ehlers-Danlos Syndrome, Vascular Type
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Descending aortic dissection, A... OMIM:130050
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Acute hepatic failure, Elevated he... ORPHA:537
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratitis, Facial erythema, Folliculitis, Conjunctivitis, Dry skin, Blepharitis OMIM:308800
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Meacham Syndrome
Accessory spleen, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextroc... OMIM:608978
Ehlers-Danlos Syndrome, Classic-Like
Soft skin, Hyperextensible skin, Striae distensae OMIM:606408
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarrhea, Hematochezia... OMIM:615895
Juvenile Arthritis
Skin rash OMIM:618795
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neutrophilia, Abdominal pain, Le... ORPHA:3260
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Pallor ORPHA:507
Subcorneal Pustular Dermatosis
Pruritus, Erythema, Rheumatoid arthritis, Pustule ORPHA:48377
Familial Cold Autoinflammatory Syndrome 2
Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis OMIM:611762
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Neonatal death, ... OMIM:265380
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic... ORPHA:2001
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... ORPHA:99867
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Striae distensae OMIM:300354
Methimazole Embryofetopathy
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A... ORPHA:1923
Acrogeria
Excessive wrinkled skin, Skin ulcer ORPHA:2500
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Cortisone Reductase Deficiency 1
Acne OMIM:604931
Familial Multiple Nevi Flammei
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage, Skin ulcer ORPHA:624
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... ORPHA:90291
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Mitral stenosis, Hypoplastic aortic arch ORPHA:2248
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... ORPHA:793
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Gastrointestinal dysm... ORPHA:363705
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Splenomegaly, Chronic diarrhea, Esophageal varix, Inflammation of the large intesti... OMIM:614576
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Pruritus, Pustule, Cheilitis, Eosinophilic dermal i... ORPHA:293173
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia ORPHA:277
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Acute colitis, Pneumonia, Abdominal pain, Intestinal perforation... ORPHA:544482
Flynn-Aird Syndrome
Skin ulcer, Atherosclerosis ORPHA:2047
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Keratoconjunctivitis sicc... ORPHA:309031
Bone Marrow Failure Syndrome 4
Dry skin, Eczema OMIM:618116
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Diffuse Cutaneous Systemic Sclerosis
Malabsorption, Xerostomia, Skin ulcer, Gastroesophageal reflux, Pulmonary fibrosis, Dysphagia ORPHA:220393
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Striae distensae OMIM:610475
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Li... ORPHA:39812
Catastrophic Antiphospholipid Syndrome
Transient ischemic attack, Abnormal heart valve morphology, Myocarditis, Skin ulcer, Retinal arte... ORPHA:464343
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... ORPHA:33110
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum OMIM:615214
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia... OMIM:619708
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chronic mucocutaneous candidiasis... OMIM:614868
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres... OMIM:270100
Hereditary Sensory And Autonomic Neuropathy Type 1
Penetrating foot ulcers, Gastroesophageal reflux, Skin ulcer ORPHA:36386
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca OMIM:617321
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Patent ductus arteriosus, At... ORPHA:392
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Myocarditis, Erythema, Hepatitis, Thyroiditis, Tubulointerstitial nephritis, ... ORPHA:139402
Hyperlipoproteinemia, Type Id
Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash OMIM:609628
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Atelectasis, Cleft palate, Skin ulcer, Skin vesicle, Vascular d... ORPHA:2314
Psoriasis 14, Pustular
Psoriasiform dermatitis, Cholangitis, Pustule, Erythema, Oligoarthritis OMIM:614204
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Peritonitis, Vasculitis, Erythema, Skin ulcer, Gastroi... ORPHA:727
Epidermodysplasia Verruciformis
Pustule, Recurrent skin infections, Seborrheic dermatitis ORPHA:302
Geleophysic Dysplasia 1
Lack of skin elasticity OMIM:231050
Microphthalmia, Syndromic 9
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Agenesis of pulmonary vessel... OMIM:601186
Syndromic Diarrhea
Dependency on intravenous nutrition, Villous atrophy, Gastritis, Hepatoblastoma, Increased mean p... ORPHA:84064
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Recurrent pneumonia, Pyoderma gangrenosum, Bronchiectasis OMIM:150550
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Recurrent pneumonia, Bronchiectasis, Atopic d... OMIM:243700
Diabetic Embryopathy
Ventricular septal defect, Abnormality of the pancreas, Tetralogy of Fallot, Cleft palate, Abnorm... ORPHA:1926
Trichothiodystrophy 8, Nonphotosensitive
Eczema, Cutis laxa OMIM:619691
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Skin ulcer, Saliva... ORPHA:79493
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratitis, Facial erythema, Folliculitis, Conjunctivitis, Blepharitis OMIM:612843
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal lung lobation, Anomalous pulmonary veno... ORPHA:1120
Dominant Beta-Thalassemia
Hypersplenism, Splenomegaly, Jaundice, Dilated cardiomyopathy, Skin ulcer, Hepatosplenomegaly, Ch... ORPHA:231226
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Patent ductus arte... OMIM:606003
Radio-Tartaglia Syndrome
Dry skin, Striae distensae OMIM:619312
Fixed Drug Eruption
Stomatitis, Erythema, Crusting erythematous dermatitis ORPHA:293812
Double Outlet Right Ventricle
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... ORPHA:3426
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Chronic Mucocutaneous Candidiasis
Abnormal endocardium morphology, Recurrent respiratory infections, Erythema, Hepatitis, Skin ulcer ORPHA:1334
Uremic Pruritus
Pruritus, Inflammatory abnormality of the skin, Dry skin, Recurrent skin infections ORPHA:94059
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... ORPHA:3097
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Colitis, Bronchiectasis, Recurrent pneumonia OMIM:301220
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Ollier Disease
Skin ulcer ORPHA:296
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Prolidase Deficiency
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Erythema, Skin ulcer, Dry skin ORPHA:742
Atypical Werner Syndrome
Lipoatrophy, Lack of skin elasticity, Skin ulcer, Generalized lipodystrophy ORPHA:79474
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Pericarditis, Vasculitis, Erythema, Skin ulcer, Cardiomyopathy, Pulm... ORPHA:93672
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation OMIM:226100
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Jaundice, Skin ulcer, Pallor, Cholelithiasis ORPHA:822
Congenital Disorder Of Glycosylation, Type Iq
Dry skin, Eczema, Cutis laxa OMIM:612379
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal coronary artery morpholo... ORPHA:980
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Recurrent pneumonia, Atopic dermatitis, Bronchiectasis, Chronic mucocu... OMIM:619752
Immunodeficiency 81
Recurrent cutaneous abscess formation, Skin rash, Petechiae OMIM:619374
Congenital Tracheal Stenosis
Meckel diverticulum, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypo... ORPHA:141127
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Mitral valve calcification, Abnormality of the spleen, Splenomegaly, Aortic valve calcification, ... ORPHA:2072
Neutropenia, Severe Congenital, X-Linked
Eczema OMIM:300299
Esophageal Atresia
Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Intestinal malrot... ORPHA:1199
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Renal artery aneurysm, Portal hypertension, Splenome... OMIM:615688
Arterial Tortuosity Syndrome
Aortic regurgitation, Carotid artery dissection, Congenital diaphragmatic hernia, Pulmonary arter... OMIM:208050
Periodic Fever, Familial, Autosomal Dominant
Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjunctivitis, Erysipelas OMIM:142680
Vexas Syndrome
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... OMIM:301054
Beta-Thalassemia Major
Hepatomegaly, Hypersplenism, Splenomegaly, Jaundice, Dilated cardiomyopathy, Skin ulcer, Hepatosp... ORPHA:231214
Zinc Deficiency, Transient Neonatal
Eczema OMIM:608118
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta OMIM:616559
Congenital Factor Xiii Deficiency
Myeloid leukemia, Hepatic failure, Inflammation of the large intestine ORPHA:331
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Abnormal aortic arch morphology, Cleft palate, Ect... ORPHA:2059
Calciphylaxis
Arterial calcification, Skin ulcer ORPHA:280062
Pituitary Adenoma 4, Acth-Secreting
Ecchymosis, Purpura, Striae distensae, Facial erythema OMIM:219090
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Iridocycliti... ORPHA:85436
Hutchinson-Gilford Progeria Syndrome
Premature skin wrinkling, Osteoarthritis, Absence of subcutaneous fat, Lack of skin elasticity ORPHA:740
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Juvenile rheuma... ORPHA:275
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... ORPHA:294023
Acquired Purpura Fulminans
Intracranial hemorrhage, Hepatic failure, Pyoderma gangrenosum, Macular purpura ORPHA:49566
Adult-Onset Still Disease
Pericarditis, Skin rash, Pruritus, Myocarditis, Erythema, Hepatitis, Arthritis ORPHA:829
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Diarrhea, Enterocolitis, Gout, Hepatocellular adenoma, Ulcerative colitis, T... ORPHA:79259
Dyskeratosis Congenita
Neoplasm of the pancreas, Recurrent respiratory infections, Hepatomegaly, Esophageal stenosis, Ma... ORPHA:1775
Attenuated Chédiak-Higashi Syndrome
Recurrent respiratory infections, Skin ulcer ORPHA:352723
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Cutis laxa OMIM:614100
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux OMIM:201475
Pseudopelade Of Brocq
Recurrent skin infections, Cheilitis ORPHA:129
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Pustule, Synovitis, Abnormal inflammat... ORPHA:77297
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Acne, Striae distensae, Dorsocervical fat pad ORPHA:189427
Mixed-Type Autoimmune Hemolytic Anemia
Skin rash, Pallor ORPHA:90036
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Abnormal elasticity of skin, Dry skin ORPHA:486815
Acrodermatitis Enteropathica
Malabsorption, Erythema, Skin ulcer, Furrowed tongue, Dry skin, Glossitis ORPHA:37
Fusariosis
Lung abscess, Pneumonia, Hypersensitivity pneumonitis, Abnormality of the spleen, Peritonitis, Br... ORPHA:228119
B4Galt1-Cdg
Inflammatory abnormality of the skin, Redundant neck skin ORPHA:79332
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Knee osteoarthritis, Striae distensae OMIM:619656
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Erythema, Epididymitis, Arthritis, Iritis OMIM:109650
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema OMIM:617443
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abnormal aortic... ORPHA:251071
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Splenomegaly, Gout, Inflammation of the large intestine, Protuberant ab... OMIM:232220
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Neoplasm of the lung, Erythema, Skin ulcer ORPHA:659
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Uveitis, Skin ulcer, Synovitis,... OMIM:186580
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis, Scaling skin, Skin ulcer ORPHA:454831
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... ORPHA:562639
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer ORPHA:312
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Abnormal eosinophil morphology, Abnormal large intesti... ORPHA:171
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Viral hepatitis, Gastrointestinal hemorrhage, Pericard... ORPHA:91139
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Anterior uveitis, Pericarditis, Skin rash ORPHA:85414
Phace Association
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... OMIM:606519
Livedoid Vasculopathy
Abnormal capillary morphology, Venous insufficiency, Skin ulcer, Varicose veins, Ischemic stroke,... ORPHA:542643
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease OMIM:616100
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... ORPHA:36234
Pgm3-Cdg
Recurrent respiratory infections, Lactose intolerance, Recurrent pneumonia, Bronchiectasis, Skin ... ORPHA:443811
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Gastrointestinal stroma tumor, Myocarditis, Vascu... ORPHA:221
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Pyoderma gangrenosum, Recurrent infection of the gastrointest... ORPHA:486
Acth-Independent Macronodular Adrenal Hyperplasia
Striae distensae OMIM:219080
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Malabsorption, Skin ulcer, Steatorrhea ORPHA:2176
Plague
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Splenomegaly, Lymp... ORPHA:707
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis OMIM:612260
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Intestinal obstruction, Recurrent ... ORPHA:900
Meige Disease
Varicose veins, Pleural effusion, Skin ulcer ORPHA:90186
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... ORPHA:29207
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Single coronary artery origin, Ventricular septal defe... ORPHA:1708
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Fibromuscular Dysplasia, Multifocal
Soft skin, Hyperextensible skin, Soft, doughy skin, Striae distensae, Dermal translucency OMIM:619329
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Lipoatrophy, Redundant skin, Cutis laxa ORPHA:2963
Glycogen Storage Disease Ic
Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammation of the large intestine, ... OMIM:232240
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Skin ulcer, Elevated bronchoalveolar... OMIM:608710
Complement Factor I Deficiency
Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti... OMIM:610984
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Seborrheic dermatitis OMIM:614441
Hajdu-Cheney Syndrome
Recurrent respiratory infections, Hepatomegaly, Mitral stenosis, Intestinal malrotation, Ventricu... ORPHA:955
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Hepatosplenomegaly ORPHA:86884
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:256810
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Primary Sjögren Syndrome
Chronic active hepatitis, Parotitis, Lymphocytic interstitial pneumonia, Bronchitis, Vasculitis, ... ORPHA:289390
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
Dermatoosteolysis, Kirghizian Type
Skin ulcer ORPHA:1657
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation... ORPHA:556
Hyperzincemia With Functional Zinc Depletion
Skin rash OMIM:601979
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Esophageal ulceration, Esophageal stricture, Pneumothorax, Xerosto... ORPHA:99921
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer OMIM:613640
Ectodermal Dysplasia-Blindness Syndrome
Recurrent respiratory infections, Skin ulcer ORPHA:1806
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Cheilitis ORPHA:2483
Pigmented Nodular Adrenocortical Disease, Primary, 1
Striae distensae OMIM:610489
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration OMIM:613115
Fumarase Deficiency
High palate, Necrotizing enterocolitis, Hepatic failure, Polycythemia OMIM:606812
Cushing Disease
Acne, Dorsocervical fat pad, Recurrent cutaneous fungal infections, Skin ulcer, Ecchymosis, Stria... ORPHA:96253
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... ORPHA:99125
Blau Syndrome
Pericarditis, Splenomegaly, Erythema, Xerostomia, Large vessel vasculitis, Skin ulcer, Abnormalit... ORPHA:90340
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Pustule, Orchitis, Erythema, Skin ulcer, Arthritis, Infectious encephali... ORPHA:761
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Dry skin OMIM:610768
Immunodeficiency 55
Dry skin, Recurrent skin infections, Eczema OMIM:617827
Adrenocortical Carcinoma
Striae distensae ORPHA:1501
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Peritonitis, Erythema, Uveitis, Arthritis... ORPHA:32960
Immunodeficiency 49
Psoriasiform dermatitis, Cutis laxa OMIM:617237
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Lipodystrophy, Arthritis, Panniculitis, Conjunctivitis OMIM:617591
Chikungunya
Maculopapular exanthema, Skin rash, Pruritus, Erythema nodosum, Erythema, Crusting erythematous d... ORPHA:324625
Alport Syndrome
Hypertension, Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology ORPHA:63
Chime Syndrome
Ventricular septal defect, Erythema, Tetralogy of Fallot, Cleft palate, Skin ulcer, Transposition... ORPHA:3474
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Abnormal lung lobation, Cleft palate, Coarctation of aorta, Abnormal aortic... ORPHA:1052
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Acne, Seborrheic dermatitis OMIM:167100
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, High, narrow palate, Right ve... OMIM:619472
Autosomal Dominant Cutis Laxa
Dermal translucency, Redundant neck skin, Redundant skin, Dilatation of the ventricular cavity, B... ORPHA:90348
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Acral ulceration OMIM:162400
Pagod Syndrome
Sudden cardiac death, Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Abnormal aort... ORPHA:991
Cutis Laxa, Autosomal Dominant 1
Hyperextensible skin, Bronchiectasis, Redundant skin, Cutis laxa OMIM:123700
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Anorexia, Splenomegaly, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflamma... OMIM:181000
Geroderma Osteodysplasticum
Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Periodontitis, Cutis laxa OMIM:231070
Fanconi Anemia
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Patent ductus arteriosus, Tracheoesophage... ORPHA:84
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Erythema, Xerostomia, Skin ulcer, Ankyloglossia, Oral ... ORPHA:2907
2Q37 Microdeletion Syndrome
Abnormal aortic morphology, Congenital diaphragmatic hernia ORPHA:1001
Familial Keratoacanthoma
Skin ulcer ORPHA:493
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Skin ulcer, Chylothorax, Scaling skin, Atrial septal defect, Pleural effusion, Dry skin ORPHA:2526
Amoebiasis Due To Free-Living Amoebae
Respiratory tract infection, Pneumonia, Skin ulcer, Myocardial necrosis ORPHA:68
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Gastroesophageal reflux, Acral ulceration OMIM:201300
Leukocyte Adhesion Deficiency, Type I
Rectal abscess, Skin ulcer OMIM:116920
Diaphragmatic Hernia 4, With Cardiovascular Defects
Diaphragmatic eventration, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... OMIM:620025
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Pulmonary arterial hyp... ORPHA:2396
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... OMIM:617137
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Recurrent pneumonia, Chron... OMIM:102700
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta OMIM:600460
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Palpable purpura, Membranoproliferative gl... ORPHA:48435
Adult Syndrome
Dry skin, Skin ulcer ORPHA:978
Classical Ehlers-Danlos Syndrome
Osteoarthritis, Hyperextensible skin, Soft, doughy skin, Ecchymosis, Striae distensae ORPHA:287
Thrombocytopenia 1
Eczema, Petechiae OMIM:313900
Refractory Celiac Disease
Inflammatory abnormality of the skin ORPHA:398063
Holoprosencephaly
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormality of the spleen, Aplasi... ORPHA:2162
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Myeloproliferative disorder ORPHA:70591
Incontinentia Pigmenti
Erythema, Skin ulcer ORPHA:464
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... ORPHA:580
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Ventricular septal defect, Abnormal pulmonary valve morphology,... ORPHA:1507
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Malabsorption, Atelectasis, Narrow palate, Skin ulcer, Gastroes... ORPHA:534
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Scaling skin ORPHA:158668
Mucopolysaccharidosis Type 2, Severe Form
Camptodactyly of finger, Flexion contracture, Peripheral arterial stenosis, Heart murmur, Cardiom... ORPHA:217085
Cushing Syndrome Due To Ectopic Acth Secretion
Acne, Dorsocervical fat pad, Recurrent cutaneous fungal infections, Skin ulcer, Ecchymosis, Stria... ORPHA:99889
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Pneumonia ORPHA:26793
Mucopolysaccharidosis Type 2, Attenuated Form
Camptodactyly of finger, Flexion contracture, Peripheral arterial stenosis, Heart murmur, Cardiom... ORPHA:217093
Nelson Syndrome
Striae distensae ORPHA:199244
Igg4-Related Kidney Disease
Pericarditis, Retroperitoneal fibrosis, Abnormal lung morphology, Abnormal mesentery morphology, ... ORPHA:449395
Charcot-Marie-Tooth Disease Type 4B2
Tongue atrophy, Penetrating foot ulcers ORPHA:99956
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab... ORPHA:2968
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Pneumonia, Oral-pharyngeal dysphagia, Intestinal perforation, Xero... ORPHA:95455
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Neuropathy, Hereditary Sensory And Autonomic, Type V
Acral ulceration OMIM:608654
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Acral ulceration OMIM:256840
Leprosy
Abnormality of the spleen, Abnormality of the liver, Penetrating foot ulcers, Acral ulceration ORPHA:548
Insensitivity To Pain, Congenital, With Anhidrosis
Acral ulceration OMIM:256800
Mowat-Wilson Syndrome
Aganglionic megacolon, Bowel incontinence, Asplenia, Pyloric stenosis, Gastrointestinal dysmotili... ORPHA:2152
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Pancreatitis ORPHA:565612
Carney Complex
Dorsocervical fat pad, Striae distensae ORPHA:1359
Split Cord Malformation
Penetrating foot ulcers ORPHA:573278

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 Col3a1

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 Col3a1.

No publications found that use IMPC mice or data for Col3a1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Col3a1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Col3a1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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