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Gene: Itgb6 MGI:96615

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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:
integrin beta 6
Synonyms:
2210409C20Rik,  4831415H04Rik

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 Itgb6 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 Itgb6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Sparse body hair ORPHA:2850
Amelogenesis Imperfecta, Type Ih
OMIM:616221

The table below shows human diseases predicted to be associated to Itgb6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema OMIM:130700
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp OMIM:610753
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia of scalp, Alopecia OMIM:260910
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Hypotrichosis 5
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair OMIM:612841
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Periodontitis, Congenital alopecia totalis, Alopecia universalis OMIM:104130
Alopecia Areata 1
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea OMIM:613490
Alopecia Universalis
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes ORPHA:701
Hypotrichosis 11
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... OMIM:615059
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair ORPHA:505
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail OMIM:614928
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Idiopathic Bronchiectasis
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... ORPHA:60033
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Alopecia, Recurrent cutaneous ab... ORPHA:499
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Hypoxemia, Honeycomb lung, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... ORPHA:79127
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Alopecia, Hypoplastic toenails, Sparse and thin eyebrow, Sparse h... ORPHA:2722
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema ORPHA:1164
Cerebellar Ataxia And Ectodermal Dysplasia
Alopecia, Sparse hair OMIM:212835
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Congenital alopecia totalis, Nail pits ORPHA:169095
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Alopecia, Sparse hair OMIM:203600
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair OMIM:617294
Parc Syndrome
Alopecia, Absent eyebrow, Absent eyelashes OMIM:600331
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Chronic sinusitis, Bronchiolitis, Emphysema OMIM:604571
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... ORPHA:3361
Hypotrichosis 1
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... OMIM:605389
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Pustule, Scarring alopecia of scalp, Recurrent skin infections, Patchy ... ORPHA:346
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... OMIM:602032
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
L-Ferritin Deficiency
Alopecia OMIM:615604
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... OMIM:612387
Pseudopelade Of Brocq
Abnormal hair morphology, Cheilitis, Alopecia, Recurrent skin infections, Abnormality of the nail... ORPHA:129
Trichodysplasia-Xeroderma
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... ORPHA:444
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinopulmonary infections, Alopecia, Recu... OMIM:616576
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Sparse scalp hair, Periodontitis, Alopecia universalis, Abnormal eyelash morpho... ORPHA:1008
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... OMIM:614929
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Hypotrichosis 13
Sparse and thin eyebrow, Sparse hair, Woolly hair OMIM:615896
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Alopecia, Woolly scalp hair, Woolly hair OMIM:601217
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... ORPHA:189
Monilethrix
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair OMIM:158000
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Nonspecific interstitial pn... OMIM:610921
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Alopecia of scalp, Trichodysplasia ORPHA:79129
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Nail dystrophy, Alopecia, Nail pits OMIM:601705
Pili Torti
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... ORPHA:2889
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Bronchiectasis, Ot... OMIM:618781
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, Bronchiectasis, Recurrent otitis media, Alopecia, Chronic mucocutaneou... OMIM:618282
Crandall Syndrome
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:202
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Fine hair, Dystrophic fingernails, Ciliary dyskinesia, Dystrophic toenail, Sparse and thin eyebro... ORPHA:1882
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Asthma, Pneumonia OMIM:617638
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Fanconi Renotubular Syndrome 5
Emphysema, Decreased DLCO, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Deafness-Craniofacial Syndrome
Alopecia OMIM:125230
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair OMIM:614931
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse eyelashes, Small nail, Sparse and thin eyebrow, Coarse hair, Alopecia, Pili torti, Absent ... OMIM:613573
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Abnormal fingernail m... ORPHA:248
Clouston Syndrome
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... OMIM:129500
Porphyria Cutanea Tarda
Alopecia, Facial hypertrichosis, Onycholysis OMIM:176100
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Alopecia, Erysipelas, Pulmonary fibrosis OMIM:615704
Woolly Hair, Autosomal Recessive 3
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair OMIM:616760
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Alopecia, Sparse hair OMIM:616353
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Pili Torti-Onychodysplasia Syndrome
Eczema, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Nail dystrophy, Congenital onyc... ORPHA:2890
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Recurrent lower respiratory tract infections, Pleural thickening, Asthma, Pulmona... OMIM:619632
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Recurrent respiratory infections, Respiratory insufficiency, Intraalveolar phospholipid accumulation OMIM:618042
Monilethrix
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... ORPHA:573
Zinc Deficiency, Transient Neonatal
Eczema, Alopecia OMIM:608118
Hypophosphatasia
Emphysema, Respiratory insufficiency ORPHA:436
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... OMIM:618695
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia OMIM:614564
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Interlobular septal thickening, Exertional dyspnea, Dyspnea, Intraalve... OMIM:614370
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
Oliver-Mcfarlane Syndrome
Long eyebrows, Sparse hair, Long eyelashes, Alopecia OMIM:275400
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sparse eyelashes, Folliculitis, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Keratitis, ... OMIM:612843
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Ridged fingernail, Sparse hair ORPHA:2251
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Alopecia OMIM:618373
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Palmoplantar Keratoderma And Congenital Alopecia 1
Brittle hair, Alopecia, Sparse eyebrow, Nail dysplasia, Leukonychia, Sparse hair OMIM:104100
Ciliary Dyskinesia, Primary, 9
Ciliary dyskinesia, Pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent otitis media, Cough, R... OMIM:612444
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Tachypnea, Decreased DLCO, Restrictive ventilator... OMIM:300770
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema, Alopecia OMIM:617443
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Apnea, Decreased peak expiratory flow, Emphysema, Respir... ORPHA:95430
Idiopathic Trachyonychia
Atopic dermatitis, Ridged nail, Circumungual hyperkeratosis, Nail dystrophy, Thin nail, Fingernai... ORPHA:79153
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Cough, Restrictive ventilatory defect, Dyspnea, Emphysema, Pleural effusion ORPHA:36412
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Skin Fragility-Woolly Hair Syndrome
Sparse eyelashes, Nail dystrophy, Alopecia, Nail dysplasia, Woolly hair, Sparse and thin eyebrow OMIM:607655
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Pseudoprogeria Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow, Sparse hair ORPHA:2985
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Nail dystrophy, Alopecia totalis OMIM:212360
Hereditary Mucoepithelial Dysplasia
Fine hair, Alopecia, Pulmonary fibrosis, Recurrent respiratory infections, Sparse hair ORPHA:1839
Erythrokeratodermia Variabilis
Abnormal hair morphology, Alopecia, Abnormality of the nail, Skin rash, Generalized hirsutism ORPHA:317
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Recurrent sinusitis OMIM:615481
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma, Nail dystrophy, Alopecia, Nail dysplasia, Sparse hair OMIM:242300
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Nail dystrophy, Alopecia, Atrichia, Congenital abnormal hair pattern ORPHA:1867
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Sparse body hair ORPHA:2850
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Erythroderma OMIM:618840
Netherton Syndrome
Recurrent respiratory infections, Emphysema, Asthma ORPHA:634
Schöpf-Schulz-Passarge Syndrome
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Alopecia ORPHA:50944
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Alopecia ORPHA:79397
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Sparse scalp hair, Pleural effusion, Sparse body hair ORPHA:69735
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Sparse and thin eyebrow, Sparse eyelashes, Abnormality of the nail, Alopecia OMIM:129540
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Alopecia OMIM:617763
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema OMIM:219100
X-Linked Agammaglobulinemia
Sinusitis, Recurrent cutaneous abscess formation, Chronic otitis media, Hepatitis, Alopecia, Arth... ORPHA:47
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis, Osteomyelitis OMIM:239840
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the nail, Sparse hair, Toenail dysplasia OMIM:607823
Mucoepithelial Dysplasia, Hereditary
Chronic monilial nail infection, Pneumonia, Nail dystrophy, Rhinorrhea, Alopecia, Coarse hair, Ch... OMIM:158310
Congenital Non-Bullous Ichthyosiform Erythroderma
Alopecia, Erythroderma, Abnormality of the nail, Keratitis ORPHA:79394
Classic Mycosis Fungoides
Eczema, Alopecia, Abnormality of the nail, Skin rash ORPHA:2584
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Recurrent viral upper respiratory tract infections, Recurrent otitis med... OMIM:615577
Hypotrichosis 12
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... OMIM:615885
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia OMIM:612079
Keutel Syndrome
Pulmonary arterial hypertension, Recurrent otitis media, Alopecia, Pulmonary artery stenosis, Rec... ORPHA:85202
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Recurrent bronchitis, Restrictive ventilatory defect, Recurrent respir... ORPHA:1572
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Fingernail dysplasia, Abnormal fingernail morphology, Alopecia, Hypoplastic toenails, Sparse scal... ORPHA:2325
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Alopecia universalis, Sparse hair OMIM:614594
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lymphadenitis, Alopecia ORPHA:90156
Olmsted Syndrome, X-Linked
Posterior blepharitis, Alopecia totalis, Blepharitis, Subungual hyperkeratosis OMIM:300918
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Fine hair, Allergic rhinitis, Alopecia of scalp, Slow-growing scalp hair, Spar... ORPHA:90368
Keratoderma Hereditarium Mutilans
Abnormal toenail morphology, Alopecia, Abnormality of the nail ORPHA:494
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Lung abscess, Pneumonia, Cough, Decreased DLCO, Restrictive ventilatory defect, Dyspne... OMIM:610910
Lichen Planopilaris
Onycholysis, Abnormal fingernail morphology, Hepatitis, Alopecia ORPHA:525
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Alopecia of scalp, Sparse eyebrow, Absent pubic hair, Absent axillar... ORPHA:2269
Lymphangioleiomyomatosis
Pneumothorax, Cough, Pulmonary lymphangiomyomatosis, Restrictive ventilatory defect, Dyspnea, Rec... ORPHA:538
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Cholangitis, Sparse eyelashes, Alopecia, Thick hair, Sparse hair OMIM:607626
Holocarboxylase Synthetase Deficiency
Eczema, Perioral eczema, Tachypnea, Alopecia, Respiratory distress, Keratoconjunctivitis ORPHA:79242
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Eczema, Curly eyelashes, Alopecia, Abnormal hair pattern, Long eyelashes, ... ORPHA:3051
Fibrodysplasia Ossificans Progressiva
Alopecia, Respiratory insufficiency ORPHA:337
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Cutis Laxa, Autosomal Recessive, Type Ic
Pulmonary artery stenosis, Tracheomalacia, Emphysema, Pulmonary hypoplasia OMIM:613177
Cronkhite-Canada Syndrome
Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Alopecia, Hypoplastic toenails, Abno... ORPHA:2930
Autoimmune Lymphoproliferative Syndrome, Type Iii
Membranous nephropathy, Recurrent otitis media, Alopecia, Arthritis, Recurrent lower respiratory ... OMIM:615559
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Fragile nails, Alopecia, Erythroderma, Conjunctivitis OMIM:242150
Sézary Syndrome
Nail dystrophy, Alopecia, Erythroderma, Abnormal pleura morphology ORPHA:3162
Loeys-Dietz Syndrome 4
Pneumothorax, Emphysema OMIM:614816
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Angular cheilitis, Leukonychia, Sparse axill... OMIM:613102
Olmsted Syndrome 2
Cheilitis, Alopecia universalis, Sparse hair, Woolly hair OMIM:619208
Bathing Suit Ichthyosis
Nail dystrophy, Alopecia, Erythroderma, Sparse hair ORPHA:100976
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress, Alopecia, Skin rash ORPHA:148
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Ridged nail, Nail dystrophy, Alopecia, Pulmonary fibrosis, Sparse hair,... OMIM:127550
Hypervitaminosis A, Susceptibility To
Alopecia totalis OMIM:240150
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Psoriasiform dermatitis, Recurrent bronchitis, Bronchiectasis, Nail dystrophy, Recurrent otitis m... ORPHA:293978
Autoimmune Polyendocrinopathy Type 2
Hashimoto thyroiditis, Alopecia ORPHA:3143
Sarcoidosis, Susceptibility To, 1
Hypoxemia, Bronchiectasis, Pulmonary arterial hypertension, Cough, Elevated bronchoalveolar lavag... OMIM:181000
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Myositis, Pleuritis, Pulmonary arterial hy... ORPHA:809
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis ORPHA:1366
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair OMIM:211390
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Respiratory insufficiency OMIM:215100
Omenn Syndrome
Alopecia, Erythroderma, Pneumonia OMIM:603554
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Brittle hair, Alopecia, Nail dystrophy, Coarse hair, Pulmonary artery stenosis ORPHA:75389
Alpha-Heavy Chain Disease
Alopecia ORPHA:100025
Trichotillomania
Alopecia OMIM:613229
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Pulmonary lymphangiectasia, Sparse eyelashes, Alopecia, Absent eyebrow, Absent eyelashes, Membran... OMIM:137940
Localized Junctional Epidermolysis Bullosa
Atrophic, patchy alopecia, Dystrophic fingernails, Dystrophic toenail, Nail dystrophy, Scarring a... ORPHA:251393
Nocardiosis
Productive cough, Pneumonia, Pneumothorax, Pleuritis, Respiratory distress, Nonproductive cough, ... ORPHA:31204
Ichthyosis, Congenital, Autosomal Recessive 2
Small nail, Alopecia, Abnormal hair morphology, Thin nail OMIM:242100
Omenn Syndrome
Erythroderma, Pneumonia, Alopecia, Thyroiditis, Aplasia/Hypoplasia of the eyebrow ORPHA:39041
Hypomelanosis Of Ito
Alopecia OMIM:300337
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Alopecia ORPHA:50812
Autosomal Recessive Cutis Laxa Type 1
Respiratory insufficiency, Peripheral pulmonary artery stenosis, Pneumothorax, Recurrent pneumoni... ORPHA:90349
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Tachypnea, Interlobular sep... OMIM:265120
Abnormal Hair, Joint Laxity, And Developmental Delay
Small nail, Sparse lateral eyebrow, Alopecia, Recurrent otitis media, Snoring, Trichorrhexis nodo... OMIM:261990
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hirsutism, Alopecia, Acne OMIM:615830
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Emphysema, Tracheobronchomalacia OMIM:616835
Hemifacial Atrophy, Progressive
Poliosis, Patchy alopecia OMIM:141300
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Dystrophic fingernails, Dystrophic toenail, Sparse lateral eyebrow, Nail d... ORPHA:3253
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal fingernail morphology, Neoplasm of the lung, Sparse hair, Alopecia ORPHA:659
Satoyoshi Syndrome
Alopecia universalis, Alopecia OMIM:600705
Frontonasal Dysplasia 2
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Alopecia OMIM:613451
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Macs Syndrome
Sparse and thin eyebrow, Sparse hair, Alopecia, Bronchiectasis OMIM:613075
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the pulmonary artery ORPHA:363618
Keutel Syndrome
Sinusitis, Peripheral pulmonary artery stenosis, Recurrent bronchitis, Chronic sinusitis, Pulmona... OMIM:245150
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, Erythroderma, Patchy alopecia, Chronic oral candidiasis, Thyroid... OMIM:606367
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Eczema, Psoriasiform dermatitis, Tub... ORPHA:37042
Renpenning Syndrome
Alopecia, Abnormal hair laboratory examination, Thin eyebrow ORPHA:3242
Pachyonychia Congenita
Onychogryposis of fingernail, Fingernail dysplasia, Nail dystrophy, Alopecia, Angular cheilitis, ... ORPHA:2309
Adult Syndrome
Fine hair, Hypoplastic nipples, Fingernail dysplasia, Alopecia, Sparse scalp hair, Abnormality of... ORPHA:978
Holocarboxylase Synthetase Deficiency
Tachypnea, Alopecia, Hyperventilation, Skin rash OMIM:253270
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Alopecia, Respiratory insufficiency OMIM:135100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Erythroderma, Hepatitis, Alopecia, Arthritis, Glomerulonephritis OMIM:304790
Relapsing Polychondritis
Myocarditis, Pericarditis, Episcleritis, Abnormal pattern of respiration, Chondritis of pinna, Ch... ORPHA:728
Autoimmune Polyendocrinopathy Type 1
Abnormal fingernail morphology, Alopecia, Chronic mucocutaneous candidiasis ORPHA:3453
Ehlers-Danlos Syndrome, Vascular Type
Pneumothorax, Pulmonary bleb, Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Repeated pneu... OMIM:130050
Pediatric Systemic Lupus Erythematosus
Myositis, Discoid lupus rash, Nephritis, Alopecia, Arthritis, Malar rash, Skin rash, Dyspnea, Ple... ORPHA:93552
Acrodermatitis Enteropathica
Pustule, Cheilitis, Ridged nail, Alopecia, Abnormal eyebrow morphology, Abnormality of the nail, ... ORPHA:37
Johnson Neuroectodermal Syndrome
Sparse hair, Absent eyebrow, Absent eyelashes, Alopecia ORPHA:2316
Johnson Neuroectodermal Syndrome
Sparse hair, Absent eyebrow, Absent eyelashes, Alopecia OMIM:147770
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Chronic oral candidiasis, Nail dystrophy, Alopecia, Chronic mucocutaneo... OMIM:240300
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia OMIM:219721
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Ellis Van Creveld Syndrome
Emphysema, Aplasia/Hypoplasia of the lungs ORPHA:289
Neonatal Marfan Syndrome
Hypoxemia, Neonatal respiratory distress, Emphysema ORPHA:284979
Hemochromatosis, Type 1
Alopecia, Pleural effusion OMIM:235200
Scleroderma
Myocarditis, Pericarditis, Episcleritis, Fasciitis, Pulmonary arterial hypertension, Alopecia, Ar... ORPHA:801
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Alopecia totalis, Anonychia, Absent fingernail OMIM:609638
Rapp-Hodgkin Syndrome
Fine hair, Small nail, Recurrent otitis media, Decreased number of sweat glands, Progressive alop... OMIM:129400
Biotinidase Deficiency
Seborrheic dermatitis, Tachypnea, Apnea, Alopecia, Recurrent skin infections, Skin rash, Conjunct... OMIM:253260
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Tachypnea, Cough, Abnormal pulmonary interstitial morphology, Respirat... OMIM:613658
Mandibulofacial Dysostosis With Alopecia
Sparse and thin eyebrow, Sparse eyelashes, Alopecia OMIM:616367
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Alopecia, Erythroderma, Recurrent lower respiratory... ORPHA:169154
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema OMIM:614437
Fabry Disease
Chronic pulmonary obstruction, Dyspnea, Emphysema, Respiratory insufficiency ORPHA:324
Keratoderma Hereditarium Mutilans With Ichthyosis
Nail dystrophy, Alopecia, Onychogryposis ORPHA:79395
Dyskeratosis Congenita, Autosomal Dominant 3
Fine hair, Alopecia, Nail dysplasia, Pulmonary fibrosis, Premature graying of hair OMIM:613990
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Flynn-Aird Syndrome
Alopecia ORPHA:2047
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Erythroderma, Nail dystrophy, Alopecia, Absent eyebrow, Absent eyelashes, Keratitis, Nail dysplasia OMIM:308205
Adams-Oliver Syndrome
Pulmonary arterial hypertension, Alopecia, Aplastic/hypoplastic toenail, Hypoplastic fingernail, ... ORPHA:974
Alstrom Syndrome
Chronic active hepatitis, Tubulointerstitial nephritis, Nephritis, Alopecia, Otitis media, Recurr... OMIM:203800
Monosomy 18P
Low posterior hairline, Alopecia ORPHA:1598
Behcet Syndrome
Epididymitis, Arthritis, Iridocyclitis, Patchy alopecia, Iritis, Erythema nodosum OMIM:109650
Juvenile Dermatomyositis
Pericarditis, Myositis, Alopecia, Arthritis, Cough, Skin rash, Pulmonary fibrosis, Restrictive ve... ORPHA:93672
Sarcoidosis
Bronchiectasis, Pneumothorax, Cough, Upper airway obstruction, Pulmonary fibrosis, Abnormal lung ... ORPHA:797
Mogs-Cdg
Hirsutism, Apnea, Alopecia, Long eyelashes, Respiratory distress, Pulmonary edema, Hypoventilatio... ORPHA:79330
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Erythroderma, Coarse hair, Sparse eyebrow, Abnormal hair pattern, Scarring alop... ORPHA:35173
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sparse eyelashes, Small nail, Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Asthma,... ORPHA:544488
Marfan Syndrome
Pulmonary artery dilatation, Emphysema, Spontaneous pneumothorax ORPHA:558
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Hepatitis, Alopecia... ORPHA:227990
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Alopecia, Pancreatitis ORPHA:412057
Autosomal Dominant Cutis Laxa
Bronchiolitis, Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis ORPHA:90348
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple ORPHA:3224
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
H Syndrome
Psoriasiform dermatitis, Hypertrichosis, Bronchiectasis, Chronic rhinitis, Alopecia, Abnormal eye... ORPHA:168569
Bresek Syndrome
Alopecia ORPHA:85284
Mandibuloacral Dysplasia With Type B Lipodystrophy
Brittle hair, Sparse hair, Alopecia, Abnormality of hair texture OMIM:608612
Marfan Syndrome
Pulmonary artery dilatation, Emphysema, Pneumothorax OMIM:154700
Giant Cell Arteritis
Pericarditis, Epistaxis, Alopecia, Arthritis, Cough, Abnormal pleura morphology, Recurrent pharyn... ORPHA:397
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Nail dystrophy, Alopecia, Conjunctivitis OMIM:226600
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Hepatitis, Alopecia... ORPHA:227982
Lethal Acantholytic Erosive Disorder
Congenital alopecia totalis, Absent hair, Absent toenail, Absent eyebrow, Absent eyelashes, Absen... ORPHA:158687
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Erythroderma, Alopecia, Sparse and thin eyebrow, Sparse hair OMIM:302960
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis OMIM:269200
Systemic Sclerosis
Myocarditis, Pericarditis, Glomerulonephritis, Pulmonary arterial hypertension, Alopecia, Arthrit... ORPHA:90291
Incontinentia Pigmenti
Broad nail, Infectious encephalitis, Abnormal hair morphology, Dystrophic toenail, Pulmonary arte... ORPHA:464
Bartsocas-Papas Syndrome
Aplasia/Hypoplasia of the eyebrow, Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toen... ORPHA:1234
Gomez-Lopez-Hernandez Syndrome
Alopecia OMIM:601853
Biotinidase Deficiency
Eczematoid dermatitis, Apnea, Alopecia, Respiratory distress, Skin rash, Hyperventilation, Conjun... ORPHA:79241
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Nail dystrophy, Alopecia OMIM:175500
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal toenail morphology, Sparse hair, Alopecia ORPHA:1005
Satoyoshi Syndrome
Alopecia universalis, Abnormal hair morphology, Sparse or absent eyelashes ORPHA:3130
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Small nail, Alopecia, Absent eyebrow, Absent eyelashes ORPHA:166035
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Patchy alopecia ORPHA:85279
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Seborrheic dermatitis, Alopecia OMIM:210210
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Anonychia, Sparse eyelashes, Nail dystrophy, Absent eyelashes, Hyperconvex nail, Patchy alopecia,... OMIM:106260
Hallermann-Streiff Syndrome
Sparse eyelashes, Sparse hair, Respiratory insufficiency, Alopecia, Abnormality of hair texture, ... ORPHA:2108
Gapo Syndrome
Sparse eyelashes, Hypoplastic nipples, Sparse hair, Alopecia, Sparse eyebrow, Nail dysplasia, Bre... OMIM:230740
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Fine hair, Alopecia ORPHA:228390
Short Syndrome
Sparse hair, Alopecia ORPHA:3163
Gapo Syndrome
Early balding, Sparse and thin eyebrow, Sparse eyelashes, Alopecia ORPHA:2067
Adrenoleukodystrophy
Alopecia OMIM:300100
Mandibuloacral Dysplasia
Hypoplastic fingernail, Sparse hair, Alopecia ORPHA:2457
Oculocerebrocutaneous Syndrome
Abnormal fingernail morphology, Alopecia ORPHA:1647
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Unilateral lung agenesis, Emphysema ORPHA:500150
Autosomal Dominant Hypocalcemia
Eczema, Abnormal pattern of respiration, Alopecia, Abnormality of the nail, Abnormal fingernail m... ORPHA:428
Celiac Disease, Susceptibility To, 1
Eczema, Stomatitis, Alopecia, Thyroiditis, Recurrent aphthous stomatitis OMIM:212750
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Alopecia, Abnormal hair quantity ORPHA:457059
Dyskeratosis Congenita
White hair, Nail dystrophy, Alopecia, Abnormal eyebrow morphology, Periodontitis, Aplastic/hypopl... ORPHA:1775
Ectodermal Dysplasia-Skin Fragility Syndrome
Cheilitis, Chapped lip, Nail dystrophy, Recurrent skin infections, Recurrent pneumonia, Alopecia ... ORPHA:158668
Progeria-Short Stature-Pigmented Nevi Syndrome
Low posterior hairline, Alopecia, Central sleep apnea ORPHA:2959
Chronic Graft Versus Host Disease
Bronchiolitis obliterans, Wheezing, Keratoconjunctivitis sicca, Urinary bladder inflammation, Ony... ORPHA:99921
Severe Generalized Junctional Epidermolysis Bullosa
Stridor, Pyoderma, Pneumonia, Pneumothorax, Nail dystrophy, Alopecia, Respiratory distress, Recur... ORPHA:79404
Porphyria, Congenital Erythropoietic
Hypertrichosis, Alopecia, Absent eyebrow, Loss of eyelashes, Conjunctivitis OMIM:263700
Rothmund-Thomson Syndrome, Type 2
Sparse eyelashes, Nail dystrophy, Alopecia, Sparse eyebrow, Absent eyebrow, Absent eyelashes, Spa... OMIM:268400
Insulin-Resistance Syndrome Type B
Hirsutism, Pneumonia, Nephritis, Alopecia, Skin rash, Osteoarthritis ORPHA:2298
Mandibuloacral Dysplasia With Type B Lipodystrophy
Nail dystrophy, Alopecia, Abnormal hair morphology ORPHA:90154
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Alopecia of scalp, Alopecia, Abnormal eyebrow morphology, Sparse pubic hair, Sparse and thin eyeb... ORPHA:2232
Encephalocraniocutaneous Lipomatosis
Alopecia, Peripheral pulmonary artery stenosis OMIM:613001
Incontinentia Pigmenti
Atrophic, patchy alopecia, Fine hair, Hypoplastic nipples, Sparse hair, Ridged nail, Nail dystrop... OMIM:308300
Limb-Mammary Syndrome
Psoriasiform dermatitis, Hypoplastic nipples, Alopecia, Sparse eyebrow, Chronic irritative conjun... ORPHA:69085
Colchicine Poisoning
Myocarditis, Respiratory distress, Alopecia, Cardiorespiratory arrest ORPHA:31824
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hirsutism, Alopecia, Acne ORPHA:189427
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia ORPHA:93160
Nestor-Guillermo Progeria Syndrome
Sparse eyelashes, Nail dystrophy, Pulmonary arterial hypertension, Alopecia, Sparse scalp hair, S... OMIM:614008
Leigh Syndrome
Eczema, Hypertrichosis, Abnormal pattern of respiration, Alopecia, Frontal hirsutism, Respiratory... ORPHA:506
Viss Syndrome
Pulmonary artery aneurysm, Pneumothorax, Pulmonary arterial hypertension, Asthma, Dyspnea, Emphysema OMIM:619472
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Thin fingernail, Eczema, Abnormal hair morphology, Episcleritis, Thin eyebrow, Cheilitis, Alopeci... ORPHA:2273
Johanson-Blizzard Syndrome
Alopecia, Abnormal hair pattern ORPHA:2315
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hirsutism, Alopecia, Acne ORPHA:90795
Polyendocrine-Polyneuropathy Syndrome
Alopecia ORPHA:453533
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Alopecia, Absent eyelashes, Abnormal eyebrow morphology ORPHA:90153
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis, Hyperventilation OMIM:618775
Ane Syndrome
Alopecia ORPHA:157954
Dyskeratosis Congenita, X-Linked
Sparse eyelashes, Split nail, Ridged nail, Nail dystrophy, Alopecia, Pterygium of nails, Pulmonar... OMIM:305000
Primary Pigmented Nodular Adrenocortical Disease
Hirsutism, Alopecia, Acne ORPHA:189439
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia OMIM:163200
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Pulmonary hypoplasia, Abnormality of the nail, Alopecia OMIM:308050
Bloom Syndrome
Chronic pulmonary obstruction, Sparse eyelashes, Pneumonia, Cheilitis, Rhinitis, Respiratory trac... ORPHA:125
Rothmund-Thomson Syndrome
Sparse eyelashes, Small nail, Alopecia totalis, Sparse eyebrow, Malar rash, Nail dysplasia, Skin ... ORPHA:2909
Distal Monosomy 19P13.3
Alopecia, Thick eyebrow ORPHA:96129
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Nail dystrophy, Recurrent skin infections, Onychogryposis, Alopecia ORPHA:79396
Focal Dermal Hypoplasia
Abnormality of the pulmonary vasculature, Aplasia/Hypoplasia of the lungs, Abnormality of the nai... ORPHA:2092
Localized Scleroderma
Abnormality of skin adnexa morphology, Hashimoto thyroiditis, Fasciitis, Esophagitis, Arthritis, ... ORPHA:90289
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis OMIM:277440
Mandibuloacral Dysplasia With Type A Lipodystrophy
Sparse scalp hair, Alopecia OMIM:248370
Leprosy
Sparse body hair, Epistaxis, Alopecia, Absent eyebrow, Uveitis, Loss of eyelashes, Iritis ORPHA:548
Kikuchi-Fujimoto Disease
Myocarditis, Pustule, Alopecia, Malar rash, Abnormal pulmonary interstitial morphology, Skin rash... ORPHA:50918
Neutral Lipid Storage Disease With Ichthyosis
Alopecia ORPHA:98907
Classical-Like Ehlers-Danlos Syndrome Type 2
Periodontitis, Alopecia, Keratoconjunctivitis sicca ORPHA:536532
Orofaciodigital Syndrome Type 1
Chronic otitis media, Brittle hair, Coarse hair, Alopecia, Sparse hair ORPHA:2750
Bartsocas-Papas Syndrome 1
Small nail, Alopecia, Absent eyebrow, Absent eyelashes, Alopecia totalis, Sparse scalp hair, Anon... OMIM:263650
Orofaciodigital Syndrome I
Sparse hair, Alopecia OMIM:311200
Knobloch Syndrome 1
Alopecia OMIM:267750
Woodhouse-Sakati Syndrome
Fine hair, Sparse hair, Alopecia OMIM:241080
Adams-Oliver Syndrome 1
Small nail, Alopecia, Pulmonary arterial hypertension, Pulmonary artery stenosis, Supernumerary n... OMIM:100300
Atypical Werner Syndrome
Neoplasm of the lung, Abnormal hair morphology, Alopecia, Abnormal hair quantity, White forelock,... ORPHA:79474
Linear Nevus Sebaceus Syndrome
Alopecia ORPHA:2612
Autosomal Recessive Robinow Syndrome
Chronic otitis media, Fingernail dysplasia, Alopecia, Long eyelashes, Recurrent respiratory infec... ORPHA:1507
Encephalocraniocutaneous Lipomatosis
Pulmonary arterial hypertension, Abnormal eyelash morphology, Alopecia ORPHA:2396
Koolen-De Vries Syndrome Due To A Point Mutation
Eczema, Recurrent otitis media, Alopecia, Recurrent respiratory infections, Tracheomalacia, Fair ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Eczema, Recurrent otitis media, Alopecia, Recurrent respiratory infections, Tracheomalacia, Fair ... ORPHA:363958
Xeroderma Pigmentosum
Alopecia, Blepharitis, Keratitis ORPHA:910
Sotos Syndrome
Pulmonary bleb, Small cell lung carcinoma ORPHA:821
Rothmund-Thomson Syndrome Type 1
Alopecia totalis, Nail dysplasia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, ... ORPHA:221008
Autosomal Dominant Robinow Syndrome
Onychogryposis of fingernail, Fingernail dysplasia, Curly eyelashes, Long eyelashes, Alopecia, Ri... ORPHA:3107
Rothmund-Thomson Syndrome Type 2
Alopecia totalis, Nail dysplasia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, ... ORPHA:221016
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Thin eyebrow, Alopecia, Loss of eyelashes, Respiratory failure, Dyspnea, Sparse hair ORPHA:2636
Steinert Myotonic Dystrophy
Respiratory insufficiency, Obstructive sleep apnea, Early balding, Respiratory insufficiency due ... ORPHA:273
Turner Syndrome
Inflammation of the large intestine, Low posterior hairline, Recurrent otitis media, Alopecia, Ab... ORPHA:881
Monosomy X
Inflammation of the large intestine, Low posterior hairline, Recurrent otitis media, Alopecia, Ab... ORPHA:99226
Mosaic Monosomy X
Inflammation of the large intestine, Low posterior hairline, Recurrent otitis media, Alopecia, Ab... ORPHA:99228
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Low posterior hairline, Recurrent otitis media, Alopecia, Ab... ORPHA:99413
African Trypanosomiasis
Myocarditis, Pericarditis, Alopecia, Keratitis, Optic neuritis, Myelitis, Iritis, Conjunctivitis ORPHA:3385
Hutchinson-Gilford Progeria Syndrome
Dystrophic fingernails, Dystrophic toenail, Pulmonary arterial hypertension, Absent eyebrow, Alop... ORPHA:740
Woodhouse-Sakati Syndrome
Aplasia/Hypoplasia of the eyebrow, Alopecia ORPHA:3464
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia OMIM:619321
Ring Chromosome 13 Syndrome
Alopecia ORPHA:96176
Vascular Ehlers-Danlos Syndrome
Pulmonary artery aneurysm, Respiratory insufficiency, Pneumothorax, Alopecia, Abnormality of hair... ORPHA:286
Pallister-Killian Syndrome
Apneic episodes in infancy, Sparse eyelashes, Sparse hair, Alopecia, Sparse eyebrow, Sparse scalp... OMIM:601803
Amelogenesis Imperfecta, Type Ih
OMIM:616221

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 Itgb6

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 Itgb6.

No publications found that use IMPC mice or data for Itgb6.

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MGI Allele Allele Type Produced
Itgb6em1(IMPC)Ccpcz Exon Deletion Mice
Itgb6tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Itgb6tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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