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Gene: Il1rn MGI:96547

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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:
interleukin 1 receptor antagonist
Synonyms:
IL-1ra,  F630041P17Rik

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 Il1rn 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 Il1rn by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Skin rash, Pustule, Osteolysis, Hyperkeratosis, Fused cervical vertebr... OMIM:612852
Gastric Cancer
OMIM:613659

The table below shows human diseases predicted to be associated to Il1rn by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Takayasu Arteritis
Arteritis OMIM:207600
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
Candidiasis, Familial, 6
Chronic mucocutaneous candidiasis OMIM:613956
Lymphoblastic Transformation, Intrinsic Defect In
Chronic mucocutaneous candidiasis OMIM:247450
Lymphoblastic Transformation, Inhibition Of
Chronic mucocutaneous candidiasis OMIM:247430
Lymphokine Deficiency
Chronic mucocutaneous candidiasis OMIM:247650
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Chilblain Lupus 2
Chilblains OMIM:614415
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Temporal Arteritis
Retinal arteritis OMIM:187360
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... ORPHA:64745
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin OMIM:602723
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Vasculitis, Lymphocytic, Nodular
Nodular inflammatory vasculitis OMIM:192310
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis, Pulmonary embolism OMIM:134400
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... OMIM:613953
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... ORPHA:90280
Aneurysm Of Interventricular Septum
Vascular dilatation OMIM:105805
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Porokeratosis Plantaris Palmaris Et Disseminata
Pruritus, Hyperkeratotic papule, Palmoplantar hyperkeratosis, Porokeratosis ORPHA:737
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ichthyosis, Er... OMIM:612281
Vein Of Galen Aneurysmal Malformation
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:1053
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... OMIM:607850
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule ORPHA:464318
Glycoprotein Storage Disease
Gout OMIM:232900
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid factor positive, Pruritus, Erythema, Rheumatoid ... ORPHA:79099
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... OMIM:604777
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Dilated cardiomyopathy, Ventricular tachycardia, Erythema, Hyperkeratosi... OMIM:615821
Cardiomyopathy, Dilated, 1B
Vascular dilatation, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial contra... OMIM:600884
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Failure to thrive, Recurrent skin infections, Recurrent meningoc... OMIM:614372
Familial Cold Autoinflammatory Syndrome 4
Fever OMIM:616115
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Erythema, Oligoarthritis, Polyartic... OMIM:614204
Telangiectasia, Hereditary Benign
Diffuse telangiectasia, Vascular dilatation OMIM:187260
Pemphigus Foliaceus
Psoriasiform dermatitis, Autoimmunity, Acantholysis, Pustule, Pruritus, Crusting erythematous der... ORPHA:79481
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... ORPHA:85410
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratos... ORPHA:79503
Anhidrosis, Isolated, With Normal Sweat Glands
Heat intolerance OMIM:106190
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Hypoalphalipoproteinemia, Primary, 1
Myocardial infarction, Premature coronary artery atherosclerosis OMIM:604091
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Systemic lupus erythe... ORPHA:498359
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Skin rash, Retinal arteriolar constriction, Peripheral arterial stenosis OMIM:124950
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Bathing Suit Ichthyosis
Parakeratosis, Multiple joint contractures, Thickened skin, Palmoplantar hyperkeratosis, Ichthyos... ORPHA:100976
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Coronary Artery Dissection, Spontaneous
Cystic medial necrosis, Coronary artery dissection OMIM:122455
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Moyamoya Disease 1
Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia OMIM:252350
Rheumatoid Arthritis
Rheumatoid factor positive, Joint stiffness, Vasculitis, Anti-citrullinated protein antibody posi... OMIM:180300
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... OMIM:619208
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype... OMIM:300918
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Flexion contracture, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyo... OMIM:242300
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Abnormality of the knee, Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, ... ORPHA:158681
Acquired Ichthyosis
Recurrent skin infections, Autoimmunity, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratod... ORPHA:454
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... ORPHA:494424
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Bazex Syndrome
Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis nigri... ORPHA:166113
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Ulerythema Ophryogenesis
Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat... ORPHA:3406
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis, Ichthyosis ORPHA:3052
Mycosis Fungoides
Pruritus, Erythema, Psoriasiform dermatitis, Eczema OMIM:254400
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Hypotrichosis Simplex Of The Scalp
Parakeratosis, Allergic rhinitis, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling skin ORPHA:90368
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis, Erythema ORPHA:83453
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Pruritus, Erythema, Systemic lupus erythematosus, Rheumatoid arthritis ORPHA:48377
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... OMIM:601952
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis,... ORPHA:79395
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... ORPHA:79147
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Abnormal sacroiliac joint morp... ORPHA:324964
Secondary Non-Traumatic Avascular Necrosis
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a... ORPHA:95459
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... OMIM:617571
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis OMIM:617574
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Cutaneous abscess OMIM:619986
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Skin ulcer, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Congenital bullou... ORPHA:312
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Fl... ORPHA:87503
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... OMIM:615508
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... OMIM:185500
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extrac... ORPHA:229
Pyoderma Gangrenosum
Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Rheumatoid arthritis, Skin ve... ORPHA:48104
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity OMIM:216950
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis, Joint stiffness OMIM:617756
Bullous Pemphigoid
Erythema, Psoriasiform dermatitis, Autoimmunity, Eczema ORPHA:703
Neonatal Lupus Erythematosus
Prolonged QT interval, Parakeratosis, Maculopapular exanthema, Skin rash, Heart block, Dilated ca... ORPHA:398124
Subacute Cutaneous Lupus Erythematosus
Antiphospholipid antibody positivity, Rheumatoid factor positive, Psoriasiform lesion, Anti-histo... ORPHA:163525
Chilblain Lupus 1
Raynaud phenomenon, Antinuclear antibody positivity, Chilblains, Skin ulcer OMIM:610448
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Flexion contracture, Limitation of jo... ORPHA:231
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Vexas Syndrome
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... OMIM:301054
Ichthyosis, Annular Epidermolytic, 1
Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform eryth... OMIM:607602
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Joint swelling, Juvenile rheumatoid arth... ORPHA:85414
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Failure to thrive, Recurrent bacterial ... OMIM:616022
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
C1Q Deficiency 3
Discoid lupus rash OMIM:620322
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Chronic rhinitis, Finger join... OMIM:615225
Malignant Hyperthermia, Susceptibility To, 4
Malignant hyperthermia OMIM:600467
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis OMIM:101900
Kienbock Disease
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist ORPHA:97332
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... OMIM:105835
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... ORPHA:275
Kid Syndrome
Angular cheilitis, Posterior blepharitis, Recurrent cutaneous fungal infections, Patellar hypopla... ORPHA:477
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Abno... ORPHA:793
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Abnormality of the knee, Psoriasiform dermatitis, Skin rash, Generalized mornin... ORPHA:85436
Netherton Syndrome
Parakeratosis, Recurrent skin infections, Allergic rhinitis, Eczema, Chronic rhinitis, Erythroder... OMIM:256500
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Classic Mycosis Fungoides
Skin rash, Eczema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin ORPHA:2584
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... OMIM:106300
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Psoriasiform dermatitis, Blepharitis, Ichthyosis OMIM:616834
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pustule, Pruritus, Thickened skin, Ichthyosis, Palmoplantar ker... ORPHA:2897
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis, Vascular dilatation OMIM:137280
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Grange Syndrome
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Arterial stenosis ORPHA:79094
Sudden Infant Death Syndrome
Malignant hyperthermia OMIM:272120
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa ORPHA:79148
Osteochondrosis Of The Tarsal Bone
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... ORPHA:563991
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Overlap Myositis
Subluxation of the small joints of the hand, Autoimmunity, Raynaud phenomenon, Antinuclear antibo... ORPHA:206572
Atrophoderma Vermiculata
Heart block, Pruritus, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule ORPHA:79100
Anonychia With Flexural Pigmentation
Hyperkeratosis, Macular telangiectasia, Follicular hyperkeratosis ORPHA:69125
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Takayasu Arteritis
Increased inflammatory response, Hypertensive crisis, Myocardial infarction, Vasculitis, Arterial... ORPHA:3287
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma OMIM:133200
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Portal hypertension, Pruritus, Sclerosing cholangitis, Ichthyosis, Orthokeratosis,... OMIM:607626
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Autoimmunity,... ORPHA:158061
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... OMIM:616100
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Atop... ORPHA:530838
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Recurrent vulvovag... ORPHA:331235
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... OMIM:617526
Dermatitis, Atopic
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Facial erythem... OMIM:603165
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri... OMIM:246700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Auto... ORPHA:436159
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin, Restricted chest movement ORPHA:2812
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis OMIM:616106
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Autoimmunity, Limitation of joi... ORPHA:2619
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction, Premature coronary artery atherosclerosis OMIM:608320
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Ray... ORPHA:1855
Chromomycosis
Keratitis, Pruritus, Ankylosis, Hyperparakeratosis, Osteolysis, Hyperkeratosis, Keratoconjunctivi... ORPHA:182
Palmoplantar Keratoderma And Congenital Alopecia 2
Camptodactyly of finger, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, ... OMIM:212360
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Osteolysis, Rh... ORPHA:100026
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Immunodeficiency 15A
Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurrent otitis media, Acne inversa, Cut... OMIM:618204
Immunodeficiency 53
Recurrent otitis media, Recurrent pneumonia, Skin rash OMIM:617585
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Ichthyosis Vulgaris
Eczematoid dermatitis, Dry skin, Ichthyosis OMIM:146700
Igg4-Related Retroperitoneal Fibrosis
Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Rheumatoid factor posi... ORPHA:49041
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Cobblestone-li... OMIM:602540
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79151
Pontiac Fever
Fever ORPHA:99748
Hypoalphalipoproteinemia, Primary, 2
Premature coronary artery atherosclerosis OMIM:618463
Radiation Proctitis
Abnormal vascular morphology, Abnormal gastrointestinal vascular morphology, Arteritis, Hematochezia ORPHA:70475
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema OMIM:617443
Lymphoid Interstitial Pneumonia
Skin rash, Eczema, Autoimmunity, Raynaud phenomenon, Autoimmune antibody positivity, Bronchiectas... ORPHA:79128
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis ORPHA:79399
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis ORPHA:254478
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Congenital Atransferrinemia
Arthritis ORPHA:1195
Myasthenia Gravis
Myositis, Raynaud phenomenon, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specif... ORPHA:589
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Hyperkeratosis, Palmoplantar hyperkeratosis ORPHA:89838
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Anti-thyroid peroxidase antibody positivity, Recurrent pneumonia, Recurr... OMIM:615577
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis OMIM:147050
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Erythema, Vasculitis in th... ORPHA:90159
C1Q Deficiency 2
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Antinucl... OMIM:620321
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin OMIM:618527
Lichen Planopilaris
Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis, Pterygium ORPHA:525
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Myocardial infarction, Gout, Hypertension, Premature coronary artery athero... OMIM:610947
Keratolytic Winter Erythema
Pustule ORPHA:50943
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial nephritis, Colitis, Pso... ORPHA:37042
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis, Osteomyelitis, Neuropathic arthropathy, Osteolytic defects of the phalanges of th... OMIM:615632
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus, Erythema, Scaling skin, Scleroderma, Morphea ORPHA:90158
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Thymoma
Myositis, Glomerulonephritis, Autoimmunity, Anti-acetylcholine receptor antibody positivity, Ulce... ORPHA:99867
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Recurrent sinusitis OMIM:617765
Epidermolytic Hyperkeratosis 1
Congenital bullous ichthyosiform erythroderma, Scaling skin, Palmoplantar hyperkeratosis, Erythro... OMIM:113800
Cyclic Neutropenia
Fever OMIM:162800
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycardia OMIM:126320
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension, Coronary artery atherosclerosis, Arterial stenosis, Cerebral artery atherosclerosis ORPHA:1192
Quinquaud Folliculitis Decalvans
Pustule, Recurrent skin infections ORPHA:346
Immunodeficiency 59 And Hypoglycemia
Recurrent skin infections, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Arteritis,... OMIM:233600
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyper... OMIM:616295
Ichthyosis, Congenital, Autosomal Recessive 7
Ichthyosis, Palmoplantar keratoderma, Hypergranulosis, Erythroderma OMIM:615022
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, Thyroiditis, Erythroderma, Scaling ... OMIM:606367
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Limitation of joint mobility, Sy... ORPHA:85435
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Immunodeficiency 66
Pustule, Recurrent skin infections OMIM:618847
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elbow flexion contracture, Pyoderma gangrenosum, Sterile arthritis, Knee flexion contractur... OMIM:604416
Epidermolytic Palmoplantar Keratoderma
Interphalangeal joint contracture of finger, Hypergranulosis, Epidermal hyperkeratosis, Diffuse p... ORPHA:2199
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Raynaud phenomenon, Antinuclear antibody po... OMIM:607944
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Macrophagic Myofasciitis
Fever ORPHA:592
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Skin ulce... ORPHA:69126
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral... OMIM:608957
Intermediate Uveitis
Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis ORPHA:279914
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Immunodeficiency 49
Wormian bones, Pulmonary artery stenosis, Psoriasiform dermatitis, Cutis laxa OMIM:617237
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Telangiectasia of the skin, Eczema, Kera... ORPHA:330058
Erythrokeratodermia Variabilis
Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Dry skin ORPHA:317
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... OMIM:615023
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis, Abnormality of the wrist, Abnormality of the elbow ORPHA:89843
Erosive Pustular Dermatosis Of The Scalp
Pustule ORPHA:222
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus, Comedonal acne, Follicular hyperkeratosis OMIM:615147
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Vascular dilatation ORPHA:2924
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Myocardial infarction, Carotid artery calcification, Congestive he... OMIM:208000
Familial Atrial Myxoma
Tricuspid regurgitation, Congestive heart failure, Heart murmur, Dilatation of the cerebral arter... ORPHA:615
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th... ORPHA:227990
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Listeriosis
Unusual skin infection, Pericarditis, Osteomyelitis, Stiff neck, Pneumonia, Pustule, Congestive h... ORPHA:533
Lamellar Ichthyosis
Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Erythroderma, Chronic otitis media... ORPHA:313
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Septic arthritis ORPHA:36237
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Isch... ORPHA:679
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... ORPHA:294023
Immunodeficiency 104
Pneumonia, Eczema, Chronic mucocutaneous candidiasis, Otitis media, Recurrent otitis media OMIM:608971
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Chronic Recurrent Multifocal Osteomyelitis 3
Palmoplantar pustulosis, Osteomyelitis OMIM:259680
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
H Syndrome
Psoriasiform dermatitis, Recurrent fractures, Abnormal cardiovascular system physiology, Bronchie... ORPHA:168569
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Rayna... ORPHA:289390
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th... ORPHA:227982
Hereditary Xanthinuria
Arthropathy, Rheumatoid arthritis, Gout ORPHA:3467
Lig4 Syndrome
Psoriasiform dermatitis, Chronic sinusitis, Telangiectasia OMIM:606593
Hypotrichosis 6
Pruritus, Erythema, Follicular hyperkeratosis OMIM:607903
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Skin rash, Erythema, Vasculitis, Purpura ORPHA:889
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma OMIM:608649
Dowling-Degos Disease
Pruritus, Hyperkeratosis, Arthritis, Skin vesicle, Hyperkeratotic papule, Acne inversa ORPHA:79145
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Autoimmunity, Skin ulcer,... ORPHA:229717
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratitis, Facial erythema, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Follicular hy... OMIM:308800
Sjögren-Larsson Syndrome
Joint stiffness, Erythema, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormality of the eye ORPHA:816
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Interstitial pn... ORPHA:454831
Tuberculosis
Fever ORPHA:3389
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Chondritis, Os... ORPHA:564003
Harlequin Ichthyosis
Sudden cardiac death, Limitation of joint mobility, Hyperkeratosis, Congenital ichthyosiform eryt... ORPHA:457
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis, Palmoplantar keratoderma ORPHA:2206
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Lacun... ORPHA:136
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin, Erythema ORPHA:90160
Vascular Hyalinosis
Vascular dilatation, Hematochezia, Subarachnoid hemorrhage OMIM:277175
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Abnormal cerebral vascular morphology, Seborrheic dermatitis, Hyperpa... ORPHA:276280
Acral Peeling Skin Syndrome
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin ORPHA:263534
Brucellosis
Anterior uveitis, Pericarditis, Osteomyelitis, Transient ischemic attack, Pneumonia, Glomerulonep... ORPHA:1304
Peeling Skin Syndrome 5
Hyperkeratosis, Scaling skin OMIM:617115
Elastoderma
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa ORPHA:228240
Pauci-Immune Glomerulonephritis
Purpura, Glomerulonephritis, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody... ORPHA:93126
Peripheral Dysostosis
Osteoarthritis, Joint stiffness ORPHA:1795
Paget Disease Of Bone 6
Osteoarthritis, Coronary artery atherosclerosis OMIM:616833
Ramon Syndrome
Hyperkeratosis, Juvenile rheumatoid arthritis, Telangiectasia OMIM:266270
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash OMIM:619175
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant... ORPHA:90283
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash OMIM:609939
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Complement Component 4A Deficiency
Vasculitis, Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity OMIM:130020
Osteoarthritis With Mild Chondrodysplasia
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness OMIM:604864
Immunodeficiency 50
Eczema OMIM:300988
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Abnormality of the knee, Crusting erythematous dermatitis, Abnormality of the elbow, Erythema, Pa... ORPHA:158673
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Enterocolitis, Hematochezia, ... OMIM:243150
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis OMIM:221700
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Erythema, Telangiectasia of the skin, Skin ulcer ORPHA:542592
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aor... ORPHA:91387
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:613943
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Oligozoospermia, Increase... OMIM:615703
Iga Pemphigus
Neutrophilic infiltration of the skin, Acantholysis, Pustule, Pruritus, Autoimmune antibody posit... ORPHA:555905
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma ORPHA:330064
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Neuropathic arthropathy, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis, Path... ORPHA:36386
Erythema Elevatum Diutinum
Skin rash, Vasculitis in the skin ORPHA:90000
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Small vessel v... OMIM:608068
Reynolds Syndrome
Skin rash, Telangiectasia of the skin, Pruritus, Skin ulcer, Arthritis, Keratoconjunctivitis sicc... ORPHA:779
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia OMIM:618806
Microscopic Polyangiitis
Episcleritis, Gastrointestinal hemorrhage, Increased inflammatory response, Sinusitis, Pericardit... ORPHA:727
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Darier Disease
Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Skin vesicle, Subungual hyperk... ORPHA:218
Rothmund-Thomson Syndrome, Type 1
Recurrent otitis media, Hyperkeratosis, Osteoporosis OMIM:618625
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin, Ichthyosis ORPHA:461
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Absence Of Fingerprints-Congenital Milia Syndrome
Camptodactyly of finger, Skin rash, Thin skin, Thickened skin ORPHA:1658
Ichthyosis With Confetti
Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullous ichthyos... OMIM:609165
Juvenile Temporal Arteritis
Vasculitis, Conjunctivitis, Allergic rhinitis, Cerebral ischemia ORPHA:26137
Progressive Nodular Histiocytosis
Fever ORPHA:158022
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Prolidase Deficiency
Pruritus, Crusting erythematous dermatitis, Erythema, Skin ulcer, Reduced bone mineral density, G... ORPHA:742
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Eczema, Pruritus, Palmoplantar keratoderma, Dry skin, Blepharitis OMIM:618535
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension, Progressive flexion contractures, Rheumatoid arthritis ORPHA:98808
Chronic Mucocutaneous Candidiasis
Skin rash, Pruritus, Erythema, Cheilitis, Hepatitis, Skin ulcer, Hyperkeratosis ORPHA:1334
Spinocerebellar Ataxia Type 42
Psoriasiform dermatitis ORPHA:458803
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Autoimmunity, Synovitis, Hypertension, Arthritis, Anti-dsDNA antib... ORPHA:567544
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Recurrent skin infections, Atopic dermatitis, Cutaneous abscess OMIM:618944
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis OMIM:607936
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, Skin ulcer, Recurrent sinusiti... ORPHA:217390
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Coronary artery atherosclerosis, Pancreatitis ORPHA:79084
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Hughes-Stovin Syndrome
Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ... ORPHA:228116
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Psoriasiform dermatitis, Arteria lusoria, Arthritis, Chronic oral candidiasis, Recurr... ORPHA:221139
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin OMIM:612379
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Eczema, Ichthyosis ORPHA:3055
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Antinuclear antibody positivity, Thyroiditis, Uveitis, Palmoplantar ... OMIM:617388
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Joint stiffness, Congestive heart failure, Osteoarthritis, Hypertension, Hype... ORPHA:1345
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Cerebral hemorrhage, Abnormal cerebral vascular morp... ORPHA:53719
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronchiectasis, ... OMIM:618282
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Osteoporosis, Hyperkeratosis, Increased bone den... OMIM:136300
Immunodeficiency 61
Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,... OMIM:300310
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Psoriasiform dermatitis, Autoimmune thrombocytopenia, Recurrent pneumonia, Autoimmune antibody po... ORPHA:293978
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout, Vascular dilatation OMIM:617056
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Conjugated hyperbilirubinemia, Steatorrhea, Failure to thrive, Hypocholeste... OMIM:607765
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Acne, Skin rash, Abnormal cerebral vascular morphology, Sudden cardi... ORPHA:758
Hyperzincemia With Functional Zinc Depletion
Vasculitis, Skin rash OMIM:601979
Pellagra-Like Syndrome
Skin rash OMIM:260650
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Rheumatoid factor positive, Antinuclear antib... ORPHA:449395
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Redundant skin, Seborrheic dermatitis, Patent ductus arteriosus, Limitat... OMIM:259100
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Hyperthermia, Cutaneous, With Headaches And Nausea
Fever OMIM:145590
Singleton-Merten Syndrome 2
Osteopenia, Psoriasiform lesion, Osteolytic defects of the phalanges of the hand, Hyperkeratosis,... OMIM:616298
Complement Factor B Deficiency
Recurrent bacterial infections, Peritonitis, Pneumonia, Recurrent meningococcal disease OMIM:615561
Phace Association
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... OMIM:606519
Catastrophic Antiphospholipid Syndrome
Antiphospholipid antibody positivity, Angina pectoris, Transient ischemic attack, Myocardial infa... ORPHA:464343
Buerger Disease
Vasculitis, Skin ulcer ORPHA:36258
Milroy Disease
Abnormal venous morphology, Ankle swelling, Hyperkeratosis, Varicose veins, Erysipelas ORPHA:79452
Systemic Lupus Erythematosus
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... OMIM:152700
De Sanctis-Cacchione Syndrome
Keratitis, Parakeratosis, Conjunctivitis, Telangiectasia OMIM:278800
Noonan Syndrome 8
Eczema, Patent ductus arteriosus, Hyperkeratosis, Mitral regurgitation, Pulmonic stenosis, Webbed... OMIM:615355
Lipoid Proteinosis
Pustule, Hyperkeratosis, Acne, Thickened skin ORPHA:530
Cutaneous Collagenous Vasculopathy
Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Petechiae ORPHA:280779
Dermatofibrosarcoma Protuberans
Thickened skin, Erythema, Skin ulcer ORPHA:31112
Cranio-Osteoarthropathy
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling ORPHA:1525
Periodic Fever, Menstrual Cycle-Dependent
Fever OMIM:614674
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec... OMIM:601492
Peroxisome Biogenesis Disorder 3A (Zellweger)
Vascular dilatation OMIM:614859
Dysbetalipoproteinemia
Accelerated atherosclerosis, Acute pancreatitis, Angina pectoris, Type IV atherosclerotic lesion,... ORPHA:412
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Pancolitis, Folliculitis, Enterocolitis OMIM:612567
Chromosome 15Q11.2 Deletion Syndrome
Joint contracture, Juvenile rheumatoid arthritis, Elbow contracture OMIM:615656
Pemphigus Erythematosus
Autoimmunity, Acantholysis, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody... ORPHA:79480
Congenital Disorder Of Glycosylation, Type If
Flexion contracture, Hyperkeratosis, Scaling skin, Erythroderma, Dry skin OMIM:609180
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Dilated cardiomyopathy, Hyperkeratosis, Bradycardia, Ichthy... OMIM:610768
Porphyria Cutanea Tarda, Type I
Eczema OMIM:176090
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Varicose veins, Cobbl... ORPHA:90186
Acrogeria
Telangiectasia of the skin, Skin ulcer, Excessive wrinkled skin, Joint hyperflexibility, Thin skin ORPHA:2500
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Skin rash, Angina pecto... ORPHA:93672
Primary Erythromelalgia
Pruritus, Vasculitis ORPHA:90026
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis OMIM:618546
Schnitzler Syndrome
Increased bone mineral density, Skin rash, Pruritus, Vasculitis, Arthritis ORPHA:37748
Reticular Dysgenesis
Chronic otitis media, Skin rash, Skin ulcer ORPHA:33355
Limited Cutaneous Systemic Sclerosis
Foot joint contracture, Telangiectasia of the skin, Autoimmunity, Skin ulcer, Pulmonary arterial ... ORPHA:220402
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Congenital hip dislocation, Flexion contracture, Erythema, Hyperkeratosis, Epiphys... OMIM:308050
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Thickened skin, Hepatitis, Ha... ORPHA:436252
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Bilateral cryptorchid... OMIM:618156
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin OMIM:247100
Potocki-Lupski Syndrome
Failure to thrive, Small for gestational age, Hypocholesterolemia OMIM:610883
Epiphyseal Dysplasia, Multiple, 3
Delayed epiphyseal ossification, Osteoarthritis, Limited elbow extension, Limited knee extension,... OMIM:600969
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Osteopenia, Joint hypermobility, Arterial rupture, Follicular hyperkeratosis ORPHA:300179
Lipodystrophy, Familial Partial, Type 1
Hypertension, Prominent superficial veins, Coronary artery atherosclerosis, Acute pancreatitis OMIM:608600
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation OMIM:220220
Lymphoproliferative Syndrome, X-Linked, 2
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... OMIM:300635
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Skin rash, Recurrent fractures, Craniosynostosis, Recurrent pneumonia, Erythema, Chro... OMIM:147060
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol... OMIM:266510
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Right ventricular f... ORPHA:99095
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo... OMIM:614457
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Joint stiffness, Delayed epiphyseal ossification, Osteoarthritis,... ORPHA:93308
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... OMIM:186580
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Recurre... ORPHA:47
Congenital Ichthyosiform Erythroderma
Keratitis, Pruritus, Erythroderma, Palmoplantar keratoderma, Ichthyosis ORPHA:79394
Zinc Deficiency, Transient Neonatal
Eczema OMIM:608118
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Skin ulcer, Thin... ORPHA:743
Vertical Talus, Congenital
Arthritis OMIM:192950
Keratoderma Hereditarium Mutilans
Hyperkeratosis, Osteolysis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis ORPHA:494
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... ORPHA:2114
Ramon Syndrome
Hyperkeratosis, Telangiectasia of the skin, Osteolysis ORPHA:3019
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Epidermodysplasia Verruciformis
Pustule, Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis ORPHA:302
Aorta Coarctation
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... ORPHA:1457
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vascular dilatation OMIM:617219
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Dissemina... OMIM:617638
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Acral ulceration, Skin ulcer ORPHA:139578
Livedoid Vasculopathy
Enlargement of the ankles, Superficial dermal perivascular inflammatory infiltrate, Abnormal capi... ORPHA:542643
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa OMIM:617337
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Panhypogammaglobulinemia OMIM:601457
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Limitation of joint mobility ORPHA:2582
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Leopard Syndrome 3
Epidermal hyperkeratosis, Dry skin, Hyperkeratosis, Webbed neck, Cubitus valgus, Tetralogy of Fallot OMIM:613707
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Pulm... ORPHA:3342
Melorheostosis
Increased bone mineral density, Peripheral arteriovenous fistula, Joint stiffness, Arthritis, Ect... ORPHA:2485
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Osteomyelitis, Skin rash, Eczema, Recurrent fractures, Craniosynostosis, Pruritus, Sk... ORPHA:2314
Cole Disease
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:615522
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Skin rash, Pustule, Osteolysis, Hyperkeratosis, Fused cervical vertebr... OMIM:612852
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Premature coronary artery atherosclerosis ORPHA:140905
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat... ORPHA:83617
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Ichthyosis, Congenital, Autosomal Recessive 11
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma, Blepharitis OMIM:602400
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pustule, Pruritus, Cheilitis, Eosinop... ORPHA:293173
Aicardi-Goutieres Syndrome 5
Arthropathy, Chilblains, Flexion contracture, Scaling skin, Dry skin OMIM:612952
Irida Syndrome
Hyperkeratosis, Pallor, Ichthyosis ORPHA:209981
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:280785
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Congenital Factor Xii Deficiency
Penetrating foot ulcers, Retinal arteriolar occlusion ORPHA:330
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... OMIM:606545
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... ORPHA:277
Poikiloderma With Neutropenia
Joint laxity, Plantar hyperkeratosis, Skin rash, Joint stiffness, Recurrent pneumonia, Telangiect... OMIM:604173
Moynahan Syndrome
Hyperkeratosis ORPHA:2574
Naxos Disease
Subungual hyperkeratosis, Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac... OMIM:601214
Wiskott-Aldrich Syndrome 2
Eczema OMIM:614493
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr... ORPHA:97339
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Vasculitis, Skin ulcer, Arthritis, Keratoconjunctiv... ORPHA:91138
Prolidase Deficiency
Eczema, Recurrent pneumonia, Diffuse telangiectasia, Crusting erythematous dermatitis, Skin ulcer... OMIM:170100
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratitis, Facial erythema, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Blepharitis OMIM:612843
Cardiofaciocutaneous Syndrome 3
Reduced bone mineral density, Hyperkeratosis, Pulmonic stenosis, Webbed neck, Hypertrophic cardio... OMIM:615279
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... OMIM:148700
Calciphylaxis
Ectopic ossification, Arterial calcification, Abnormality of skin physiology, Skin ulcer ORPHA:280062
Visceral Myopathy, Familial, With External Ophthalmoplegia
Vascular dilatation OMIM:277320
Juvenile Arthritis
Skin rash OMIM:618795
Pili Torti-Onychodysplasia Syndrome
Palmoplantar keratoderma, Generalized keratosis follicularis, Eczema, Dry skin ORPHA:2890
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus OMIM:614432
Acquired Purpura Fulminans
Shock, Skin rash, Pyoderma gangrenosum, Intracranial hemorrhage, Macular purpura, Internal hemorr... ORPHA:49566
Dermatitis Herpetiformis
Autoimmunity, Recurrent fractures, Eczema, Pruritus, Erythema, Skin vesicle ORPHA:1656
Lymphatic Malformation 4
Hyperkeratosis, Prominent superficial veins OMIM:615907
Muckle-Wells Syndrome
Episcleritis, Skin rash, Camptodactyly of finger, Vasculitis, Uveitis, Arthritis, Conjunctivitis,... ORPHA:575
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma OMIM:613576
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthesitis, Arthriti... ORPHA:29207
Hemophilia A
Osteoarthritis, Joint hemorrhage, Muscle hemorrhage OMIM:306700
Malignant Hyperthermia, Susceptibility To, 5
Fever, Malignant hyperthermia OMIM:601887
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis, Erythroderma OMIM:133190
Homozygous Familial Hypercholesterolemia
Angina pectoris, Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid art... ORPHA:391665
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Transient ischemic attack, Carotid artery stenosis, Lacunar stroke, Arteriosclerosis of small cer... OMIM:600142
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Coronary artery atherosclerosis, Renal artery stenosis, Cerebral artery atherosclerosis OMIM:209010
Candidiasis, Familial, 8
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis OMIM:615527
Chylomicron Retention Disease
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Eczema ORPHA:2101
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Erythema, Skin ulcer, Cardiomyopathy, Hypertension ORPHA:767
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Dilated cardiomyopathy, Ol... ORPHA:3243
Proteus Syndrome
Hyperkeratosis, Venous malformation OMIM:176920
Mycetoma
Recurrent bacterial skin infections, Prominent superficial veins, Osteomyelitis, Abnormality of t... ORPHA:2583
Wells Syndrome
Pruritus, Skin vesicle, Vasculitis ORPHA:901
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Acral ulceration, Raynaud phenomenon, Thickened skin, D... ORPHA:90291
Limb-Mammary Syndrome
Dry skin, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Blepharitis ORPHA:69085
Abdominal Obesity-Metabolic Syndrome 4
Accelerated atherosclerosis, Hypertension, Coronary artery atherosclerosis, Myocardial infarction OMIM:618620
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Familial Cold Autoinflammatory Syndrome 2
Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis OMIM:611762
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Joint laxity, Joint contracture, Dry skin, Follicular hyperkeratosis OMIM:617066
Alg12-Cdg
Hyponatremia, Recurrent respiratory infections, Recurrent ear infections, Abnormal circulating Ig... ORPHA:79324
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... OMIM:228000
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
Schopf-Schulz-Passarge Syndrome
Hyperkeratosis, Palmoplantar keratoderma, Dry skin OMIM:224750
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus, ... ORPHA:90036
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer OMIM:604571
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Grange Syndrome
Coronary artery stenosis, Renovascular hypertension, Renal artery stenosis, Carotid artery stenosis OMIM:602531
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... OMIM:610655
Idiopathic Trachyonychia
Ichthyosis, Circumungual hyperkeratosis, Atopic dermatitis, Autoimmune thrombocytopenia ORPHA:79153
Blau Syndrome
Large vessel vasculitis, Posterior uveitis, Retrobulbar optic neuritis, Skin ulcer, Ichthyosis, K... ORPHA:90340
Van Den Bosch Syndrome
Recurrent skin infections, Acrokeratosis ORPHA:3417
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Hypertrophic cardiomyopathy, Telangiectasia of the skin, Telangiectasia ORPHA:79279
Phenylketonuria
Scleroderma, Dry skin, Eczema OMIM:261600
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri... ORPHA:85408
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... ORPHA:280679
Immunoglobulin A Vasculitis
Episcleritis, Gastrointestinal hemorrhage, Skin rash, Pustule, Orchitis, Vasculitis, Erythema, Sk... ORPHA:761
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Arthropathy, Eczema, Craniosynostosis, Keratitis, Hip dislocation, Bronchiectasis, Recurrent otit... OMIM:618523
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Descending aortic dissection, Osteoarthritis, Bronchiectasis, Ascending aortic dissection, Joint ... OMIM:620080
Spontaneous Periodic Hypothermia
Arrhythmia, Skin rash, Pallor ORPHA:29822
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Skin ulcer, Abnormality of the wrist ORPHA:1657
Cortisone Reductase Deficiency 1
Acne OMIM:604931
Progressive Osseous Heteroplasia
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue ORPHA:2762
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Anti-Glomerular Basement Membrane Disease
Arthritis, Vasculitis, Autoimmunity, Purpura ORPHA:375
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... OMIM:176670
Acrokeratoelastoidosis Of Costa
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis ORPHA:38
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Autoimmunity, Congestive heart failure, Flexion contracture, Osteolys... ORPHA:220393
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Eczema, Eosinophilic infiltration of the esophagus, Subarachnoid hemorrhage,... OMIM:243700
Hereditary Central Diabetes Insipidus
Growth delay, Fever ORPHA:30925
Familial Cold Urticaria
Pruritus, Arthritis, Erythema, Conjunctivitis ORPHA:47045
Juvenile Hyaline Fibromatosis
Progressive flexion contractures, Osteolysis, Skin ulcer, Joint stiffness ORPHA:2028
Werner Syndrome
Increased bone mineral density, Telangiectasia of the skin, Abnormal cerebral vascular morphology... ORPHA:902
Superficial Epidermolytic Ichthyosis
Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis ORPHA:455
Centrifugal Lipodystrophy
Lymphadenitis, Inflammatory abnormality of the skin, Erythema, Scaling skin ORPHA:90156
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Renal artery aneurysm, Skin rash, Eczema, Portal hypertension, Raynaud phenomenon, Erythema nodos... OMIM:615688
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Eczema, Camptodactyly, Pulmonary arterial hypertension OMIM:619751
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Failure to thrive, Premature ovarian insufficiency, Hypergonadotropic hypogonadism,... OMIM:212065
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Eczema, Hyperkeratosis, Keratoconjunctivitis sicca, Thin skin, Dry skin, Inflammatory ... ORPHA:238468
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Skin rash, Antinuclear antibody positivity, Colitis, Polyarticular arthritis, L... OMIM:616744
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Hypertension, Recurrent pneumonia, Coarctation of aorta OMIM:616069
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Pyoderma gangrenosum, Bronchiectasis, Recurrent aphthous stomatitis, Chronic... OMIM:150550
Hemophilia B
Gastrointestinal hemorrhage, Osteoarthritis, Joint hemorrhage OMIM:306900
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Angular cheilitis, Follicular hyperkeratosis OMIM:613102
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis, Pulmonary hemorrhage OMIM:616414
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum OMIM:615214
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Decreased circul... ORPHA:90363
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca OMIM:617321
Ventriculomegaly With Defects Of The Radius And Kidney
Vascular dilatation OMIM:602200
Pseudoachondroplasia
Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Delayed epiphyseal oss... ORPHA:750
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Larg... ORPHA:728
Pachyonychia Congenita 2
Folliculitis, Subungual hyperkeratosis, Angular cheilitis, Palmoplantar hyperkeratosis OMIM:167210
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Thickened skin, Erythema, Osteolysis, Skin ulcer, Palmoplantar keratoderma ORPHA:659
Protoporphyria, Erythropoietic, 1
Pruritus, Erythema, Eczema OMIM:177000
Ichthyosis, Congenital, Autosomal Recessive 2
Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar ke... OMIM:242100
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum ORPHA:1822
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Vascu... ORPHA:2637
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Tachycardia, Inflammatory abnormality of... ORPHA:39812
Hypohidrosis With Abnormal Palmar Dermal Ridges
Fever OMIM:241120
Activated Pi3K-Delta Syndrome
Pneumonia, Autoimmunity, Bronchiectasis, Decreased circulating antibody level, Increased circulat... ORPHA:397596
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Eczema, Camptodactyly of finger, Pustule, Erythema, Palmoplantar hype... ORPHA:2907
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Keratoconjunctivitis sicca, Skin ulcer ORPHA:1806
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Cutis laxa, Generalized ichthyosis, Scaling skin, Dry skin, Generalized hyperkeratosis ORPHA:2269
Adiposis Dolorosa
Telangiectasia of the skin, Recurrent skin infections, Autoimmunity, Arthritis, Dry skin ORPHA:36397
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Antisynthetase Syndrome
Aortic regurgitation, Joint dislocation, Myositis, Skin rash, Telangiectasia of the skin, Autoimm... ORPHA:81
Hypercholesterolemia, Familial, 1
Coronary artery atherosclerosis OMIM:143890
Hemochromatosis, Type 2A
Congestive heart failure, Dilated cardiomyopathy, Arthritis, Cardiomyopathy, Arrhythmia OMIM:602390
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... ORPHA:96180
Pgm3-Cdg
Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rhinitis, Recurrent ski... ORPHA:443811
Autosomal Erythropoietic Protoporphyria
Pruritus, Erythema, Eczema ORPHA:79278
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Flexion contracture, Joint swelling OMIM:609628
Neutropenia, Severe Congenital, X-Linked
Eczema OMIM:300299
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Arthritis, Aortic root aneurysm, Ascending tubular aorta aneurysm, Ascendin... OMIM:619825
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Joint laxity, Dry skin, Multiple joint contractures, Follicular hyperkeratosis ORPHA:486815
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Vascular dilatation OMIM:613320
Complement Factor I Deficiency
Recurrent skin infections, Glomerulonephritis, Vasculitis, Pyelonephritis, Recurrent sinusitis, R... OMIM:610984
Zika Virus Disease
Maculopapular exanthema, Skin rash, Ankle swelling, Pruritus, Wrist swelling, Arthritis, Conjunct... ORPHA:448237
Beta-Thalassemia
Hepatitis, Skin ulcer, Reduced bone mineral density, Pallor, Hypertrophic cardiomyopathy ORPHA:848
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Di... OMIM:609040
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Osteomyelitis, Skin ulcer ORPHA:2218
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... OMIM:264800
Immunodeficiency 58
Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic... OMIM:618131
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ... OMIM:615726
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Antiphospholipid antibody positivity, Skin rash, Rheumatoid factor positive, Joint stif... OMIM:615934
Adult-Onset Still Disease
Pericarditis, Skin rash, Pruritus, Myocarditis, Erythema, Hepatitis, Arthritis, Joint swelling ORPHA:829
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Pustule, Perioral erythema, Erythroderma, Blepharitis OMIM:614328
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... ORPHA:33110
Loeys-Dietz Syndrome 6
Carotid artery dissection, Thoracic aortic aneurysm, Knee osteoarthritis, Varicose veins, Dilatat... OMIM:619656
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Recurrent skin infections, Pneumonia, Pyoderma gangrenosum, Rhinitis, Periodontitis, ... ORPHA:486
Apolipoprotein A-I Deficiency
Angina pectoris, Atherosclerosis, Premature coronary artery atherosclerosis ORPHA:425
Gjc2-Related Late-Onset Primary Lymphedema
Recurrent skin infections, Venous insufficiency, Abnormal lymphatic vessel morphology, Varicose v... ORPHA:568051
Aplasia Cutis Congenita
Abnormality of bone mineral density, Skin ulcer ORPHA:1114
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Oligoarthritis, Polyar... OMIM:142680
Pachydermoperiostosis
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Seborrheic dermatitis, Thickened skin, Limitati... ORPHA:2796
Incontinentia Pigmenti
Skin rash, Telangiectasia of the skin, Camptodactyly of finger, Keratitis, Congestive heart failu... ORPHA:464
Familial Cold Autoinflammatory Syndrome 1
Arthritis, Conjunctivitis, Skin rash, Uveitis OMIM:120100
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Hypocholesterolemia OMIM:618810
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative... ORPHA:48435
American Trypanosomiasis
Skin rash, Myocarditis, Congestive heart failure, Autoimmune antibody positivity, Cardiomyopathy,... ORPHA:3386
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Osteomyelitis, Acral ulceration, Osteolytic defects of the phalanges of the hand OMIM:613115
Trichothiodystrophy 1, Photosensitive
Flexion contracture, Telangiectasia, Hyperkeratosis, Keratoconjunctivitis sicca, Congenital nonbu... OMIM:601675
Netherton Syndrome
Skin rash, Eczema, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Ac... ORPHA:634
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Liver kidney microsome type 1 antibody positivity, ... ORPHA:2137
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Inflammation of the large intestine OMIM:618108
Wiskott-Aldrich Syndrome
Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, Otitis m... ORPHA:906
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis ORPHA:2237
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Keratitis, Elbow flexion contracture, Knee flexion contractu... OMIM:148210
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Recurrent intrapulmonary hemorrhage, Skin r... ORPHA:183
Familial Thrombocytosis
Transient ischemic attack, Peripheral arterial stenosis, Syncope, Cerebral ischemia, Pulmonary ar... ORPHA:71493
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Gastritis, Autoimmunity, Joint st... ORPHA:809
Hereditary Spherocytosis
Maculopapular exanthema, Skin ulcer, Gout, Pallor, Restrictive cardiomyopathy ORPHA:822
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Recurrent skin infections, Joint stiffness, Reduced bone mineral density, Coar... OMIM:620210
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Joint stiffness, Vasculitis, Skin ulcer, Arthritis... ORPHA:397
Amyloidosis, Familial Visceral
Hypertension, Skin rash OMIM:105200
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Pustule, ... ORPHA:678
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Arteriovenous malf... ORPHA:624
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis OMIM:618618
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Epididymitis, Erythema, Arthritis, Iritis OMIM:109650
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Joint dislocation, Skin rash, Autoimmunity, Pruritus, Uveitis, Arthritis, Conjuncti... ORPHA:36412
Pseudopelade Of Brocq
Recurrent skin infections, Cheilitis ORPHA:129
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis, Joint contracture of the 5th finger, Camptodactyly of finger ORPHA:1883
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia, Vascular dilatation ORPHA:221098
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Autoimmunity, Anticardiolipin IgG antibody positivity, Autoimmune th... OMIM:615559
Blue Rubber Bleb Nevus
Intestinal bleeding, Skin rash, Arteriovenous malformation ORPHA:1059
Lesch-Nyhan Syndrome
Gout ORPHA:510
Hidrotic Ectodermal Dysplasia
Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... ORPHA:189
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Increased circulati... ORPHA:86816
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Recurrent pneumonia, Arterial rupture, Aortic dissection, Arterial diss... ORPHA:1900
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Genu recurvatum, Reduced bone mineral density ORPHA:2611
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Gout OMIM:162000
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Autoimmunity, Myocardial infarction, Pruritus, Myocardi... ORPHA:221
Senior-Loken Syndrome 8
Vascular dilatation OMIM:616307
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Peritonitis, Vasculitis, Limitation of joint mobility, Erythema, Art... ORPHA:343
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Fusariosis
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per... ORPHA:228119
Albers-Schönberg Osteopetrosis
Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste... ORPHA:53
Bacterial Toxic-Shock Syndrome
Shock, Fasciitis, Sinusitis, Myositis, Pneumonia, Tachycardia, Osteomyelitis, Skin rash, Glomerul... ORPHA:36234
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Recurrent ... ORPHA:900
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arthropathy, Congestive heart failure, Arthritis, Arrhythmia ORPHA:85446
Tularemia
Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis media, Inflammatory a... ORPHA:3392
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Increased bone mineral density, Pustul... ORPHA:77297
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury... OMIM:608654
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... ORPHA:14
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Peripheral arterial stenosis, Hypovolemia, Gout, Elevated... ORPHA:90041
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Menkes Disease
Gastrointestinal hemorrhage, Osteomyelitis, Venous insufficiency, Arterial stenosis, Intracranial... ORPHA:565
Acrodermatitis Enteropathica
Pustule, Erythema, Cheilitis, Skin ulcer, Conjunctivitis, Dry skin, Blepharitis ORPHA:37
Chronic Granulomatous Disease
Sinusitis, Eczema, Skin ulcer, Otitis media, Inflammatory abnormality of the eye ORPHA:379
Vernal Keratoconjunctivitis
Pruritus, Punctate keratitis, Corneal neovascularization ORPHA:70476
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chronic mucocutaneous candidiasis... OMIM:614868
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:281090
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Aortic atherosclerotic lesion, Coronary artery atherosclerosis, Hepa... ORPHA:209902
Aortic Valve Disease 2
Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc... OMIM:614823
Chikungunya
Maculopapular exanthema, Skin rash, Epistaxis, Joint stiffness, Raynaud phenomenon, Erythema nodo... ORPHA:324625
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth... OMIM:208230
Autoimmune Hypoparathyroidism
Prolonged QT interval, Chronic mucocutaneous candidiasis, Abnormal left ventricular function, Con... ORPHA:36913
Bone Marrow Failure Syndrome 4
Dry skin, Eczema OMIM:618116
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Prominent veins on trunk, Hypertension, Hypertrophic cardiomyopathy, Co... ORPHA:79083
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin ORPHA:1028
Indolent Systemic Mastocytosis
Skin rash, Maculopapular exanthema, Osteoporosis, Pruritus ORPHA:98848
Immune-Mediated Necrotizing Myopathy
Myositis, Skin rash, Raynaud phenomenon, Congestive heart failure, Myocarditis, Autoimmune antibo... ORPHA:206569
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Cardiac arrest, Pustule, Myocarditis, Erythema, Hepatitis, Thyroiditis, Tubulointersti... ORPHA:139402
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczema, Thyroiditis OMIM:618985
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Osteomyelitis, Skin ulcer OMIM:613640
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4
Fever OMIM:614212
Tangier Disease
Coronary artery atherosclerosis, Myocardial infarction, Atherosclerosis OMIM:205400
Pachyonychia Congenita
Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar kerato... ORPHA:2309
Severe Combined Immunodeficiency, X-Linked
Recurrent pneumonia, Skin rash, Pneumonia, Chronic oral candidiasis OMIM:300400
Costello Syndrome
Redundant skin, Lack of skin elasticity, Hyperkeratosis, Joint hyperflexibility, Pulmonic stenosi... ORPHA:3071
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation OMIM:219730
Ehlers-Danlos Syndrome, Classic-Like, 2
Aortic root aneurysm, Osteoarthritis, Prominent superficial veins, Carotid artery stenosis OMIM:618000
Infantile Systemic Hyalinosis
Osteopenia, Telangiectasia of the skin, Osteomalacia, Recurrent fractures, Camptodactyly of finge... ORPHA:2176
Dengue Fever
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cerebral hemorrhage, Pruritus, Hypotension, Pe... ORPHA:99828
Ollier Disease
Osteolysis, Skin ulcer, Joint stiffness ORPHA:296
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Autoimmunity, Abnormal joint morphology, Limitation of joi... ORPHA:47612
Hemochromatosis, Type 3
Arthritis, Purpura, Cardiomyopathy OMIM:604250
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Eczema, Systemic lupus erythematosus OMIM:616871
Coach Syndrome 1
Portal hypertension, Hypertension, Vascular dilatation OMIM:216360
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Boutonneuse Fever
Skin rash, Vasculitis, Maculopapular exanthema, Petechiae ORPHA:83313
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hypertrophic cardiomyopathy, Coronary artery atherosclerosis, Pancreati... ORPHA:2348
Cinca Syndrome
Patellar overgrowth, Arthritis, Skin rash, Uveitis OMIM:607115
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke... ORPHA:158668
Localized Scleroderma
Fasciitis, Autoimmunity, Raynaud phenomenon, Thickened skin, Vasculitis, Flexion contracture, Scl... ORPHA:90289
Flynn-Aird Syndrome
Joint stiffness, Skin ulcer, Atherosclerosis ORPHA:2047
Leishmaniasis
Rhinitis, Pallor, Skin ulcer ORPHA:507
Lcat Deficiency
Atherosclerosis, Premature coronary artery atherosclerosis ORPHA:650
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Congestive heart fai... ORPHA:90349
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Membranoproliferative glomerulonephritis, Epidermal hyperkeratosis, Pulmonary lymphangiectasia, T... OMIM:137940
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Recurrent pneumonia, Bradycardia, Vascul... OMIM:613327
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Pediatric Systemic Lupus Erythematosus
Myositis, Antiphospholipid antibody positivity, Skin rash, Raynaud phenomenon, Discoid lupus rash... ORPHA:93552
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Melena, ... OMIM:158310
Dubowitz Syndrome
Eczema, Cryptorchidism, Recurrent infections, Otitis media, Hypocholesterolemia, Decreased circul... OMIM:223370
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Familial Peripheral Male-Limited Precocious Puberty
Acne ORPHA:3000
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Cytoplasmic antineutrophil antib... OMIM:608710
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Eczema, Thin skin ORPHA:1810
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Anterior uveitis, Dilatation of the ventricular cavity, Knee osteoarthritis... ORPHA:85438
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Recurrent pneumonia, Atopic dermatitis, Bronchiectasis, Chronic mucocu... OMIM:619752
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Varicose veins, Pulmonic stenosis, Vascular dilatation, Aortic dissection OMIM:618343
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Thickened skin, Acne, Seborrheic dermatitis OMIM:614441
Melioidosis
Shock, Foot osteomyelitis, Unusual skin infection, Pneumonia, Osteoarthritis, Hepatitis, Acute in... ORPHA:31202
Bazex-Dupre-Christol Syndrome
Joint hypermobility, Atopic dermatitis, Eczema, Acne inversa OMIM:301845
Immunodeficiency 81
Recurrent cutaneous abscess formation, Autoimmune hemolytic anemia, Skin rash, Petechiae OMIM:619374
Cutis Marmorata Telangiectatica Congenita
Arteriovenous malformation, Patent ductus arteriosus, Telangiectasia of the skin, Arterial stenosis ORPHA:1556
Rheumatic Fever
Pericarditis, Sinusitis, Epistaxis, Myocarditis, Erythema, Endocarditis, Arthritis, Pallor, Arrhy... ORPHA:3099
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Psoriasiform lesion, Pneumonia, Autoimmune throm... OMIM:614700
Pfapa Syndrome
Arthritis, Infectious encephalitis ORPHA:42642
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Polyarticular arthritis, Erysipelas OMIM:134610
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Hyperkeratosis, Inflammation of the large intestine, Dry skin OMIM:614576
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Orchitis, Urinary bladder inflammation, Pruritus... ORPHA:556
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per... ORPHA:32960
Typhoid
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Arrhythmia, Infectious encepha... ORPHA:99745
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Angina pectoris, Low-output congestive heart failure, Cardi... ORPHA:565612
Meningococcal Meningitis
Shock, Stiff neck, Skin rash, Stroke, Hypotension, Infectious encephalitis, Petechiae, Purpura ORPHA:33475
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Stroke-li... OMIM:300845
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis OMIM:612260
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Septic arthritis, Recurrent pneumonia, Autoimmunity, Eczema OMIM:617780
Proteasome-Associated Autoinflammatory Syndrome 2
Neutrophilic infiltration of the skin, Skin rash, Antinuclear antibody positivity, Anti-thyroid p... OMIM:618048
Bethlem Myopathy
Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle flexion contractu... ORPHA:610
Morgagni-Stewart-Morel Syndrome
Hypertension, Osteoarthritis, Acne, Osteoporosis ORPHA:77296
Fixed Drug Eruption
Stomatitis, Erythema, Crusting erythematous dermatitis ORPHA:293812
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Palmoplantar keratoderma OMIM:616029
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis, Colitis, Bronchiectasis, Recurrent pneumonia OMIM:301220
Noonan Syndrome 10
Patent ductus arteriosus, Coarctation of aorta, Hypertrophic cardiomyopathy, Mitral regurgitation... OMIM:616564
Uremic Pruritus
Pruritus, Inflammatory abnormality of the skin, Dry skin, Recurrent skin infections ORPHA:94059
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... ORPHA:371428
Sitosterolemia 1
Arthritis, Coronary artery atherosclerosis, Carotid artery stenosis OMIM:210250
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Osteoarthritis of the small joints of the hand, Atrial fibrillation, Arteri... ORPHA:284984
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia, Recurrent infections OMIM:244450
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Medial calcification of large arteries, Infectious encephalitis, Autoimmune thrombocy... ORPHA:391487
Gastrocutaneous Syndrome
Coronary artery atherosclerosis ORPHA:2069
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conjunctivitis, Aca... OMIM:617591
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation ORPHA:98757
Plague
Chapped lip, Tachycardia, Skin rash, Erythema nodosum, Lymphadenitis, Hematemesis, Abnormality of... ORPHA:707
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Sudden cardiac death, Acantholysis, Erythema, Skin ulcer, Conjunctiv... ORPHA:537
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension, Gout OMIM:618061
Alkaptonuria
Arthropathy, Vertebral fusion, Coronary artery calcification, Limited shoulder movement, Aortic a... OMIM:203500
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Hepatitis, Arthritis, Erythroderma, Anti... OMIM:304790
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Recurrent skin infections, Epistaxis, Petechiae OMIM:612840
Ullrich Congenital Muscular Dystrophy 1
Joint laxity, Distal joint laxity, Flexion contracture, Hip dislocation, Hyperextensibility at wr... OMIM:254090
Kindler Epidermolysis Bullosa
Recurrent skin infections, Camptodactyly of finger, Flexion contracture, Erythema, Cheilitis, Hyp... ORPHA:2908
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Familial Mediterranean Fever
Pericarditis, Skin rash, Myocardial infarction, Orchitis, Osteoarthritis, Vasculitis, Peritonitis... ORPHA:342
Scedosporiosis
Unusual skin infection, Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, ... ORPHA:449280
Lyme Disease
Atrioventricular block, Uveitis, Arthritis, Joint swelling, Arrhythmia, Infectious encephalitis ORPHA:91546
Moderate Hemophilia A
Arthropathy, Hip contracture, Epidural hemorrhage, Gastrointestinal hemorrhage, Intraventricular ... ORPHA:169805
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Foot osteomyelitis, Osteomyelitis, Acral ulceration OMIM:162400
Monilethrix
Follicular hyperkeratosis ORPHA:573
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Allergic rhinitis, Eczema, ... OMIM:615816
Generalized Pustular Psoriasis
Pustule, Congestive heart failure, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythr... ORPHA:247353
Eosinophilic Fasciitis
Arthritis, Fasciitis, Myositis ORPHA:3165
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Antinuclear antibody positivity, Vasculitis, Recurrent pneumonia, Hematochezia, Subcon... OMIM:617718
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Myocardial infarction, Hypertrophic cardiomyopathy, Pulmonic stenosis, Arrhy... ORPHA:500
Hatipoglu Immunodeficiency Syndrome
Eczema, Thickened skin, Atopic dermatitis, Recurrent otitis media, Dry skin, Petechiae OMIM:620331
Loeys-Dietz Syndrome
Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissec... ORPHA:60030
Hyperoxaluria, Primary, Type I
Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventricular block, Int... OMIM:259900
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmun... ORPHA:911
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Skin ulcer ORPHA:86884
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Joint stiffness, Abnormality of the elbow, Hip dislocation, Hyperkeratosis, Ichthyosis, Synostosi... ORPHA:1005
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Noonan Syndrome 2
Abnormal coronary artery origin, Cubitus valgus, Patent ductus arteriosus, Coarctation of aorta, ... OMIM:605275
Mpdu1-Cdg
Scaling skin, Eczema, Ichthyosis ORPHA:79323
Incontinentia Pigmenti
Maculopapular exanthema, Keratitis, Erythema, Retinal hemorrhage, Uveitis, Hyperkeratosis, Pallor OMIM:308300
Leukocyte Adhesion Deficiency, Type I
Skin ulcer, Osteomyelitis, Periodontitis, Chronic mucocutaneous candidiasis OMIM:116920
Kawasaki Disease
Pericarditis, Skin rash, Congestive heart failure, Myocarditis, Vasculitis, Hepatitis, Cheilitis,... ORPHA:2331
Free Sialic Acid Storage Disease
Skin ulcer, Reduced bone mineral density ORPHA:834
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Joint laxity, Eczema, Hyperkeratosis, Ichthyosis, Pulmonic stenosis, Webbed... OMIM:607721
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Thickened skin, Acne, Seborrheic dermatitis OMIM:167100
Reynolds Syndrome
Gastrointestinal hemorrhage, Raynaud phenomenon, Erythema nodosum, Pruritus, Antinuclear antibody... OMIM:613471
Immunodeficiency 55
Dry skin, Recurrent skin infections, Eczema, Ichthyosis OMIM:617827
Sialidosis Type 1
Hyperkeratosis, Cherry red spot of the macula ORPHA:812
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicose veins, Syncope, Renal artery... ORPHA:71273
B4Galt1-Cdg
Inflammatory abnormality of the skin, Redundant neck skin ORPHA:79332
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis ORPHA:1839
Immunodeficiency 85 And Autoimmunity
Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased circulating IgE, Erythroderma,... OMIM:619510
Xeroderma Pigmentosum
Conjunctival telangiectasia, Telangiectasia of the skin, Keratitis, Thickened skin, Erythema, Tel... ORPHA:910
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr... OMIM:615952
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Abnormal atrioventricular conduction, Precocious atherosclerosis, Su... ORPHA:280365
Cardiofaciocutaneous Syndrome
Redundant skin, Genu valgum, Hyperkeratosis, Excessive wrinkled skin, Palmoplantar keratoderma, I... ORPHA:1340
Nail-Patella Syndrome
Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduced bone mineral density,... ORPHA:2614
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Pustule, Atopic dermatitis, Hypovolemic shock, Arrhythmia ORPHA:171876
Premature Aging Syndrome, Penttinen Type
Prominent superficial veins, Recurrent fractures, Hyperextensibility of the knee, Thickened skin,... OMIM:601812
Lymphatic Malformation 12
Hyperkeratosis OMIM:620014
Odontoonychodermal Dysplasia
Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperk... OMIM:257980
Hermansky-Pudlak Syndrome 9
Recurrent skin infections OMIM:614171
Hyperlipoproteinemia, Type Id
Colitis, Recurrent pancreatitis, Pancreatitis, Premature coronary artery atherosclerosis OMIM:615947
Fibromuscular Dysplasia, Multifocal
Tortuous cerebral arteries, Vertebral artery tortuosity, Celiac artery dissection, Dilatation of ... OMIM:619329
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Sinusitis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Acu... ORPHA:572
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Osteopenia, Joint dislocation, Congenital hip dislocation, Joint lax... OMIM:225400
Chime Syndrome
Erythema, Hip dislocation, Osteolysis, Skin ulcer, Hyperkeratosis, Transposition of the great art... ORPHA:3474
Tangier Disease
Accelerated atherosclerosis, Coronary artery stenosis, Carotid artery stenosis ORPHA:31150
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Transient ischemic attack, Cholangitis, Eczema, Pulmonary e... ORPHA:3260
Infantile Myofibromatosis
Limitation of joint mobility, Skin ulcer, Osteolysis, Chondrocalcinosis ORPHA:2591
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Intracranial hemorrhage, Hypertension, Aortic root aneurysm, Aortic ath... ORPHA:363618
Intrahepatic Cholestasis Of Pregnancy
Skin rash, Autoimmunity, Pruritus, Pruritus on foot, Cholecystitis, Palmar pruritus ORPHA:69665
Hidrotic Ectodermal Dysplasia, Halal Type
Follicular hyperkeratosis ORPHA:1809
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Tachycardia, Skin rash, Heart block, Capillary leak, Reduced lef... ORPHA:542323
Cogan Syndrome
Aortic regurgitation, Episcleritis, Keratitis, Vasculitis, Large vessel vasculitis, Uveitis, Scle... ORPHA:1467
Beta-Thalassemia Intermedia
Osteopenia, High-output congestive heart failure, Osteoporosis, Skin ulcer, Reduced bone mineral ... ORPHA:231222
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Single coronary artery origin, Abnormal coronary artery morpho... ORPHA:3384
Combined Oxidative Phosphorylation Deficiency 53
Arthritis, Osteomyelitis, Septic arthritis OMIM:619423
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Prominent veins on trunk, Varicose veins, Aortic root aneurysm, Keratoco... ORPHA:536532
Adult Polyglucosan Body Disease
Limitation of joint mobility, Skin ulcer ORPHA:206583
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Atopic dermatitis, Hyperkeratosis, Ichthyosi... OMIM:115150
Systemic Lupus Erythematosus
Lupus nephritis, Raynaud phenomenon, Discoid lupus rash, Antinuclear antibody positivity, Anti-La... ORPHA:536
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Atypical Werner Syndrome
Sclerosis of hand bone, Abnormal cerebral vascular morphology, Reduced bone mineral density, Prem... ORPHA:79474
Lymphatic Filariasis
Glomerulonephritis, Ankle swelling, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis, H... ORPHA:2035
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Coronary artery stenosis, Stroke, Myocardial infarction OMIM:615812
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Subungual hyperkeratosis, Recurrent skin infections, Eczema, Perianal er... OMIM:308205
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Eczema, Reduced bone mineral density, Hyperkeratosis, Joint hypermobi... OMIM:617052
Wilson Disease
Pruritus, Hepatitis, Joint swelling, Arthritis, Acute hepatitis, Pathologic fracture ORPHA:905
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma ORPHA:28378
Arthrogryposis And Ectodermal Dysplasia
Dry skin, Hyperkeratosis, Camptodactyly, Arthrogryposis multiplex congenita, Joint contracture of... OMIM:601701
Dominant Beta-Thalassemia
High-output congestive heart failure, Dilated cardiomyopathy, Osteoporosis, Skin ulcer, Chronic h... ORPHA:231226
Alpha-Mannosidosis
Chronic otitis media, Arthritis, Synostosis of joints ORPHA:61
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Rheumatoid factor positive, Eczema, Perianal abscess, Lymphadenitis, Recurren... OMIM:618935
Kanzaki Disease
Telangiectasia of the oral mucosa, Lip telangiectasia, Lacunar stroke, Hyperkeratosis, Dry skin, ... OMIM:609242
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Hypertension, Acne, Osteoporosis OMIM:615830
Estrogen Resistance
Osteopenia, Acne, Acanthosis nigricans OMIM:615363
Estrogen Resistance Syndrome
Osteopenia, Acne, Delayed epiphyseal ossification, Osteoporosis, Acanthosis nigricans, Coronary a... ORPHA:785
Alkaptonuria
Joint dislocation, Myocardial infarction, Joint stiffness, Coronary artery calcification, Osteoar... ORPHA:56
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Cheilitis ORPHA:2483
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema OMIM:613960
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Skin rash, Allergic rhinitis OMIM:612714
Dyskeratosis Congenita
Telangiectasia of the skin, Recurrent fractures, Osteoporosis, Skin ulcer, Palmoplantar keratoder... ORPHA:1775
Attenuated Chédiak-Higashi Syndrome
Epistaxis, Skin ulcer ORPHA:352723
Gaucher Disease, Perinatal Lethal
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Arthrogryposis mult... OMIM:608013
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Vasculitis, Skin rash, Joint swelling OMIM:617099
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Vascular dilatation OMIM:613177
Waardenburg Syndrome, Type 2E
Vascular dilatation OMIM:611584
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Myositis, Increased inflammatory response, Acn... ORPHA:117
Warburg-Cinotti Syndrome
Ankle flexion contracture, Erythema, Elbow flexion contracture, Osteolytic defects of the phalang... OMIM:618175
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Telangiectasia ... ORPHA:286
Squamous Cell Carcinoma Of The Anal Canal
Intestinal bleeding, Skin ulcer ORPHA:424019
Smith-Lemli-Opitz Syndrome
Eczema, Cryptorchidism, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration,... OMIM:270400
Cushing Disease
Acne, Myocardial infarction, Osteoporosis, Recurrent cutaneous fungal infections, Skin ulcer, Hyp... ORPHA:96253
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis ORPHA:163966
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Inflammatory abnormality of the skin, Pneumonia, Dilated card... ORPHA:26793
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Stiff neck, Pneumonia, Pustule, Skin ulcer, Arrhythmia, Infect... ORPHA:68
3P25.3 Microdeletion Syndrome
Patent ductus arteriosus, Coronary artery atherosclerosis, Pulmonic stenosis ORPHA:435638
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hyperkeratosis, Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia ORPHA:79280
Atopic Keratoconjunctivitis
Keratitis, Keratoconjunctivitis sicca, Dry skin, Blepharitis, Corneal neovascularization ORPHA:163934
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Pruritus, Peritonitis, Vascu... ORPHA:228123
Duane-Radial Ray Syndrome
Vascular dilatation OMIM:607323
Lymphedema-Distichiasis Syndrome
Recurrent skin infections, Patent ductus arteriosus, Tubulointerstitial nephritis, Varicose veins... ORPHA:33001
Donohue Syndrome
Acanthosis nigricans, Hyperkeratosis OMIM:246200
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... ORPHA:324636
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Portal hypertension, Joint stiffness, Congestive heart failure, Osteoporosis, Cardio... ORPHA:465508
Rothmund-Thomson Syndrome
Osteopenia, Plantar hyperkeratosis, Porokeratosis, Telangiectasia of the skin, Skin rash, Aplasia... ORPHA:2909
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Decreased circulat... ORPHA:3261
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Arthritis, Cervical subluxation OMIM:184100
Williams Syndrome
Abnormal cerebral vascular morphology, Myocardial infarction, Chronic otitis media, Overriding ao... ORPHA:904
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descending... OMIM:610168
Roifman-Chitayat Syndrome
Osteopenia, Arthritis, Pneumonia OMIM:613328
Immunodeficiency 12
Skin rash, Osteoporosis, Cheilitis, Bronchiectasis, Recurrent aphthous stomatitis OMIM:615468
Hajdu-Cheney Syndrome
Osteopenia, Mitral stenosis, Recurrent fractures, Thickened skin, Patent ductus arteriosus, Osteo... ORPHA:955
Currarino Syndrome
Perianal abscess, Vascular dilatation OMIM:176450
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin ORPHA:79431
Brooke-Spiegler Syndrome
Skin ulcer ORPHA:79493
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Short stature, Hypothermia OMIM:618493
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... OMIM:300755
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Lymphadenitis, Congestive heart failure, Dilated cardiomyopathy, Hematochezia, Cardiomyop... OMIM:615895
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Lymphadenitis, Pallor ORPHA:331206
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Thickened skin, Skin ulcer, Panniculitis, Scaling skin, Dry skin, Erysipelas ORPHA:2526
Whipple Disease
Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction, Myocarditis, Uveitis,... ORPHA:3452
Mucopolysaccharidosis Type 2, Severe Form
Peripheral arterial stenosis, Heart murmur, Cardiomyopathy, Hypertension, Abnormal aortic morphol... ORPHA:217085
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Acantholysis, Kerat... ORPHA:95455
Immunodeficiency 96
Conjunctival telangiectasia, Recurrent otitis media, Eczema OMIM:619774
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Intraventricular hemorrhage, Recurrent pneumonia, Erythem... ORPHA:420741
Mucopolysaccharidosis Type 2, Attenuated Form
Peripheral arterial stenosis, Heart murmur, Cardiomyopathy, Hypertension, Abnormal aortic morphol... ORPHA:217093
Leprosy
Epistaxis, Penetrating foot ulcers, Uveitis, Hyperkeratosis, Acral ulceration, Iritis ORPHA:548
Insensitivity To Pain, Congenital, With Anhidrosis
Osteomyelitis, Neuropathic arthropathy, Keratitis, Acral ulceration, Postural hypotension with co... OMIM:256800
Joubert Syndrome 35
Abnormality of temperature regulation OMIM:618161
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hyperkeratosis with erythema, Epiphyseal stippling, Knee flexion contracture OMIM:118650
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Gout ORPHA:411543
Loeys-Dietz Syndrome 1
Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descending thoracic aorta aneury... OMIM:609192
Mucopolysaccharidosis Type 2
Peripheral arterial stenosis, Cardiomyopathy, Hypertension, Abnormal aortic morphology, Hip osteo... ORPHA:580
Refractory Celiac Disease
Inflammatory abnormality of the skin, Autoimmune antibody positivity, Osteoporosis ORPHA:398063
Medullary cystic kidney disease 2
Tubulointerstitial nephritis, Gout OMIM:603860
Thrombocytopenia 1
Epistaxis, Joint hemorrhage, Eczema, Petechiae OMIM:313900
Hyper-Igd Syndrome
Skin rash, Lymphadenitis, Arthritis, Chronic oral candidiasis, Molluscum contagiosum, Serositis OMIM:260920
Autosomal Dominant Hypocalcemia
Eczema, Congestive heart failure, Reduced bone mineral density, Hypotension, Arrhythmia, Dry skin ORPHA:428
Orofaciodigital Syndrome Type 1
Chronic otitis media, Hypertension, Vascular dilatation ORPHA:2750
Beta-Thalassemia Major
High-output congestive heart failure, Dilated cardiomyopathy, Osteoporosis, Skin ulcer, Genu valg... ORPHA:231214
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Vasculitis, Hepatitis, Atopic ... OMIM:615846
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Foot osteomyelitis, Acral ulceration OMIM:256840
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Congenital hip dislocation, Joint hypermobility, Cerebral hemorrhage, Dislocated wris... ORPHA:536545
Punctate Palmoplantar Keratoderma Type 1
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkera... ORPHA:79501
Stickler Syndrome, Type I
Arthropathy, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility OMIM:108300
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, Tricuspid regurgitation, Patent ductus arteriosus, Aortic rupture, Cutis laxa, Mitral... OMIM:614557
Occipital Horn Syndrome
Venous insufficiency, Esophagitis, Hepatitis, Vascular dilatation ORPHA:198
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, Autoimmune hemolytic anemi... OMIM:102700
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Nephritis, Infectious encephalitis, Un... ORPHA:73263
Orofaciodigital Syndrome I
Hypertension, Vascular dilatation OMIM:311200
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis ORPHA:397744
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly OMIM:610644
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Stiff neck, Abnormal left ventricular function, Conjunctivitis, Cholecystiti... ORPHA:99827
Marfan Syndrome
Arthralgia/arthritis, Congestive heart failure, Descending aortic dissection, Dilatation of an ab... ORPHA:558
Chronic Graft Versus Host Disease
Fasciitis, Urinary bladder inflammation, Thickened skin, Flexion contracture, Erythema, Bronchiec... ORPHA:99921
Eec Syndrome
Keratitis, Inflammatory abnormality of the eye, Hyperkeratosis, Dry skin, Blepharitis ORPHA:1896
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Osteomalacia, Bronchie... OMIM:619381
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hyperkeratosis, Orthostatic hypotension OMIM:615510
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C... OMIM:301074
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation OMIM:619173
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Eczema, Epistaxis, Hematemesis, Recurrent pneumonia, Large vessel va... OMIM:301000
Familial Mediterranean Fever
Pericarditis, Orchitis, Peritonitis, Arthritis, Crohn's disease, Erysipelas OMIM:249100
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Epistaxis, Thickened skin, Cardiomyopathy, Hyperkeratosis ORPHA:79430
Shigellosis
Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Hypovolemic shock, C... ORPHA:810
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Joint laxity, Eczema, Tracheomalacia, Craniosynostosis, Intraventricular hemor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Joint laxity, Eczema, Tracheomalacia, Craniosynostosis, Intraventricular hemor... ORPHA:363958
Neurofibromatosis Type 1
Hypertension, Arterial stenosis ORPHA:636
Phacoanaphylactic Uveitis
Anterior uveitis, Keratitis, Hyphema, Retinal arteritis, Panuveitis, Posterior uveitis ORPHA:209959
Farber Disease
Abnormality of the knee, CNS foam cells, Flexion contracture, Osteoporosis, Abnormality of the el... ORPHA:333
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Chilblains, Autoimmunity, Raynaud phenomenon, Calcificatio... ORPHA:51
Adult Syndrome
Dry skin, Thin skin, Skin ulcer ORPHA:978
Meckel Syndrome, Type 1
Patent ductus arteriosus, Vascular dilatation, Coarctation of aorta OMIM:249000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Eczema, Camptodactyly of finger, Keratitis, Erythema, Cheilitis, Uveitis, Scleritis... ORPHA:2273
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab... ORPHA:2968
Kikuchi-Fujimoto Disease
Skin rash, Pustule, Myocarditis, Pruritus, Vasculitis, Antinuclear antibody positivity, Erythema,... ORPHA:50918
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint... OMIM:613795
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Vascular dilatation OMIM:617641
Restrictive Dermopathy
Osteopenia, Multiple joint contractures, Camptodactyly of finger, Epidermal hyperkeratosis, Paten... ORPHA:1662
Immunodeficiency 17
Recurrent otitis media, Autoimmune hemolytic anemia, Eczema, Chronic oral candidiasis OMIM:615607
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Painless fractures due to injury, Osteolytic defects of the phalanges of the hand, Acral ulcerati... OMIM:201300
Familial Tumoral Calcinosis
Erythema, Skin rash ORPHA:53715
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Precocious atherosclerosis, Hypovolemia, Stroke, Hypotension, Pulmonary a... ORPHA:275761
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Recurrent fractures, Joint stiffness, Hip dislocation, Cheilitis, Skin ulcer, Genu ... ORPHA:534
Fucosidosis
Generalized hyperkeratosis ORPHA:349
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Pancreatitis, Hyp... ORPHA:99826
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis OMIM:620189
Cushing Syndrome Due To Ectopic Acth Secretion
Acne, Myocardial infarction, Osteoporosis, Recurrent cutaneous fungal infections, Skin ulcer, Hyp... ORPHA:99889
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Joint laxity, Tricuspid regurgitation, Dilation of Virchow-Robin spaces, Thickened sk... ORPHA:73223
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Prominent metopic ridge, Shoulder flexion contracture, Elbow dislocation, Delaye... OMIM:210710
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Acne, Autoimmunity, Seborrheic dermatitis, Retinal arteriolar tortuo... ORPHA:567
Machado-Joseph Disease Type 1
Abnormality of temperature regulation ORPHA:276238
Machado-Joseph Disease Type 2
Abnormality of temperature regulation ORPHA:276241
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Calcification of the aorta, Skin ulcer, Varicose veins, Bacteri... ORPHA:2072
Mullerian Aplasia And Hyperandrogenism
Acne OMIM:158330
Cockayne Syndrome Type 1
Postnatal growth retardation, Abnormality of temperature regulation ORPHA:90321
Cockayne Syndrome Type 3
Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root aneurysm, Keratoconjunctivit... ORPHA:90324
Congenital Tufting Enteropathy
Arthritis, Punctate keratitis ORPHA:92050
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Cardiomyopathy, Dilatation of the ventricular cavity ORPHA:363623
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Skin rash, Pustule, Acute otitis media, Recurrent pneumonia, Chronic oral candidiasis ORPHA:35078
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... ORPHA:89936
Machado-Joseph Disease Type 3
Abnormality of temperature regulation ORPHA:276244
Stuve-Wiedemann Syndrome 1
Fever, Abnormality of temperature regulation, Short stature, Recurrent fever OMIM:601559
Ulnar-Mammary Syndrome
Abnormality of temperature regulation, Short stature, Delayed puberty ORPHA:3138
Hydranencephaly
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Antenatal intr... ORPHA:2177
Restrictive Dermopathy 1
Limb joint contracture, Epidermal hyperkeratosis, Ankylosis, Patent ductus arteriosus, Flexion co... OMIM:275210
Multiple Osteochondromas
Arthritis, Pseudoaneurysm, Hemothorax ORPHA:321
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Bronchiecta... ORPHA:90348
Leprechaunism
Acanthosis nigricans, Hyperkeratosis, Hypertrophic cardiomyopathy, Thickened skin ORPHA:508
Leptospirosis
Pericarditis, Skin rash, First degree atrioventricular block, Retinal hemorrhage, Uveitis, Hepati... ORPHA:509
6Q Terminal Deletion Syndrome
Joint laxity, Hyperkeratosis, Prominent metopic ridge ORPHA:75857
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hyperkeratosis, Blepharitis, Thin skin OMIM:129900
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Painless fractures due to injury, Osteomyelitis leading to amputation due to slow healing fractur... OMIM:256810
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Cowden Syndrome
Palmoplantar keratoderma, Generalized hyperkeratosis, Mucosal telangiectasiae ORPHA:201
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hyperkeratosis, Blepharitis OMIM:604292
Charcot-Marie-Tooth Disease Type 4B2
Penetrating foot ulcers ORPHA:99956
Deeah Syndrome
Intrauterine growth retardation, Abnormality of temperature regulation, Short stature OMIM:619004
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Arthritis, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis OMIM:161700
Adenocarcinoma Of The Anal Canal
Intestinal bleeding, Skin ulcer ORPHA:424016
Cerebrotendinous Xanthomatosis
Precocious atherosclerosis, Premature coronary artery atherosclerosis ORPHA:909
Central Hypoventilation Syndrome, Congenital, 1
Abnormality of temperature regulation OMIM:209880
Johanson-Blizzard Syndrome
Portal hypertension, Dilated cardiomyopathy, Vascular dilatation OMIM:243800
Sarcoidosis, Susceptibility To, 1
Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine, Pulmonary... OMIM:181000
Proteus Syndrome
Sudden cardiac death, Joint stiffness, Pulmonary embolism, Craniosynostosis, Thickened skin, Hip ... ORPHA:744
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Joint hyperflexibility, Arthritis ORPHA:93111
Chronic Visceral Acid Sphingomyelinase Deficiency
Cherry red spot of the macula, Coronary artery atherosclerosis ORPHA:77293
Tetrasomy 9P
Joint dislocation, Myositis, Juxtaductal coarctation of the aorta, Pericarditis, Raynaud phenomen... ORPHA:3310
Acute Transverse Myelitis
Fever, Abnormality of temperature regulation ORPHA:139417
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Abnormality of temperature regulation ORPHA:667
Williams-Beuren Syndrome
Portal hypertension, Retinal arteriolar tortuosity, Hypertension, Mitral regurgitation, Stroke, R... OMIM:194050
Lacrimoauriculodentodigital Syndrome
Patent ductus arteriosus, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Corneal ne... ORPHA:2363
Aspartylglucosaminuria
Chronic otitis media, Arthritis, Joint stiffness ORPHA:93
Choreoacanthocytosis
Arthritis, Dilated cardiomyopathy ORPHA:2388
Split Cord Malformation
Penetrating foot ulcers ORPHA:573278
Gastric Cancer
OMIM:613659

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 Il1rn

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 Il1rn.

No publications found that use IMPC mice or data for Il1rn.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Il1rntm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Il1rntm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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