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Gene: Tuft1 MGI:109572

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Gene Summary

Name:
tuftelin 1
Synonyms:
N/A

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating HDL cholesterol level Tuft1tm1a(KOMP)Wtsi HOM Early adult 5.35×10-05
improved glucose tolerance Tuft1tm1a(KOMP)Wtsi HOM   Early adult 6.05×10-06
decreased circulating alkaline phosphatase level Tuft1tm1a(KOMP)Wtsi HOM   Early adult 3.37×10-05
abnormal coat appearance Tuft1tm1a(KOMP)Wtsi HOM Early adult 8.76×10-21
abnormal eyelid morphology Tuft1tm1a(KOMP)Wtsi HOM Early adult 3.60×10-05
abnormal vibrissa morphology Tuft1tm1a(KOMP)Wtsi HOM Early adult 6.90×10-06

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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.

DSS Histology

Images

8 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Slit Lamp

3 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

9 Images

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Legacy Phenotype Associated Images
Tuft1tm1a(KOMP)Wtsi
abnormal hair texture, abnormal coat appearance, HOM, Female, WTSI
Tuft1tm1a(KOMP)Wtsi
abnormal hair texture, abnormal coat appearance, HOM, Female, WTSI
Tuft1tm1a(KOMP)Wtsi
abnormal hair texture, abnormal coat appearance, HOM, Female, WTSI
Tuft1tm1a(KOMP)Wtsi
abnormal hair texture, HOM, Female, WTSI
Tuft1tm1a(KOMP)Wtsi
abnormal hair texture, HOM, Female, WTSI

View all 25 images

Tuft1tm1a(KOMP)Wtsi
WT, Male, WTSI
Tuft1tm1a(KOMP)Wtsi
WT, Male, WTSI
Tuft1tm1a(KOMP)Wtsi
WT, Male, WTSI
Tuft1tm1a(KOMP)Wtsi
WT, Male, WTSI
Tuft1tm1a(KOMP)Wtsi
WT, Male, WTSI

View all 15 images

Tuft1tm1a(KOMP)Wtsi
abnormal eyelid morphology, HOM, Male, WTSI
Tuft1tm1a(KOMP)Wtsi
abnormal eyelid morphology, HOM, Female, WTSI
Tuft1tm1a(KOMP)Wtsi
abnormal pupil morphology, HOM, Female, WTSI

Human diseases caused by Tuft1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tuft1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Darier Disease
Macule, Hypermelanotic macule, Acrokeratosis, Abnormal hair morphology, Pruritus, Plantar pits, P... ORPHA:218
Pruritic Urticarial Papules And Plaques Of Pregnancy
Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythem... ORPHA:64745
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Darier-White Disease
Ridged nail, Hypermelanotic macule, Acrokeratosis, Acantholysis, Pruritus, Palmar pits, Plantar p... OMIM:124200
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Pruritus, Pustule, Annular cut... ORPHA:555905
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Epidermal acanthosis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Leukonychia, ... OMIM:616295
Dowling-Degos Disease
Hypopigmented macule, Abnormal fingernail morphology, Epidermoid cyst, Hypermelanotic macule, Pru... ORPHA:79145
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Abnormality of the nail, Skin vesicle ORPHA:254478
Familial Benign Chronic Pemphigus
Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion ORPHA:2841
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Epidermal acanthosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyp... ORPHA:79151
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Abnormal fingernail morphology, Pruritus, Skin erosion, Localized skin lesion, Erythematous papul... ORPHA:79410
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis, Skin plaque ORPHA:464318
Pemphigus Erythematosus
Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,... ORPHA:79480
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Sparse eyebrow, ... OMIM:613102
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle ORPHA:158681
Acrokeratosis Verruciformis
Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Verrucous... OMIM:101900
Elastosis Perforans Serpiginosa
Epidermal acanthosis, Skin-colored papule, Crusting erythematous dermatitis, Cutis laxa, Hyperker... ORPHA:79148
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer, Papule ORPHA:2337
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Abnormal fingernail morphology, Maculopap... ORPHA:79147
Pemphigus Vulgaris
Atypical scarring of skin, Recurrent cutaneous abscess formation, Acantholysis ORPHA:704
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Erythema, Follicular hyperkeratosis, Sp... OMIM:607903
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant... OMIM:605676
Superficial Epidermolytic Ichthyosis
Erythema, Palmoplantar keratoderma, Thin skin, Acantholysis ORPHA:455
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Acantholysis, Aplasia cutis congenita, Absent fingernail, Skin erosion, Anonych... OMIM:609638
Atrophoderma Vermiculata
Hypoplastic pilosebaceous units, Pruritus, Erythema, Periauricular skin pits, Abnormal epidermal ... ORPHA:79100
Warty Dyskeratoma
Abnormal fingernail morphology, Acrokeratosis, Umbilicated nodule, Skin-colored papule, Acantholy... ORPHA:69745
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hyperkerat... OMIM:602400
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Epidermal acanthosis, Absent facia... ORPHA:90368
Hyperkeratosis Lenticularis Perstans
Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer, Papule ORPHA:409
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Eosinophilia, Acantholysis, Pruritus, Pustule, Eosi... ORPHA:293173
Classic Mycosis Fungoides
Alopecia, Skin rash, Eczema, Pruritus, Erythema, Hypopigmented skin patches, Skin ulcer, Skin pla... ORPHA:2584
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Pruritus, Hypopigmented skin patches, Skin ulcer, Hyper... ORPHA:525
Pemphigoid Gestationis
Pruritus, Skin vesicle ORPHA:63275
Dowling-Degos Disease 4
Pruritus, Epidermal acanthosis, Papule OMIM:615696
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratos... ORPHA:505
Naxos Disease
Subungual hyperkeratosis, Curly hair, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse... OMIM:601214
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Acantholysis, Palmoplantar keratoderma, Spars... OMIM:615508
Erythema Elevatum Diutinum
Skin vesicle, Skin nodule, Skin rash ORPHA:90000
Wells Syndrome
Pruritus, Skin vesicle, Eosinophilia ORPHA:901
Leopard Syndrome 3
Few cafe-au-lait spots, Curly hair, Numerous nevi, Epidermal hyperkeratosis, Low posterior hairli... OMIM:613707
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... ORPHA:87503
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin OMIM:617571
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Erythematous pap... ORPHA:90280
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Ulerythema Ophryogenesis
Acne, Dry skin, Facial erythema, Erythematous papule, Dermal atrophy, Follicular hyperkeratosis, ... ORPHA:3406
Naxos Disease
Sparse scalp hair, Curly hair, Abnormality of hair texture, Palmoplantar keratoderma, Woolly hair ORPHA:34217
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:615598
Dermatitis Herpetiformis
Macule, Eczema, Pruritus, Erythema, Skin vesicle ORPHA:1656
Olmsted Syndrome 2
Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratos... OMIM:619208
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Atrophic scars, Nail dystrophy OMIM:131850
Vulvovaginal Gingival Syndrome
Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema, Skin erosion ORPHA:83453
Acrokeratoderma, Hereditary Papulotranslucent
Skin plaque, Papule, Fine hair OMIM:101840
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Concave nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, ... ORPHA:530838
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Eczema, Eosinophilia, Abnormal hair morphology, Pruritus, Paronychia, Skin ulcer, Skin... ORPHA:2314
Peeling Skin Syndrome 3
Abnormal hair morphology, Erythema, White scaling skin, Pruritus OMIM:616265
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... OMIM:158000
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Dry skin, Palmoplantar keratode... ORPHA:2890
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo... ORPHA:158687
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:617526
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Alopecia, Aplasia/Hypoplasia of the skin, Hyperconvex fingernails, Dermal atrophy, Skin vesicle, ... ORPHA:257
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy... OMIM:615821
Pyoderma Gangrenosum
Pustule, Skin ulcer, Atrophic scars, Skin vesicle, Papule ORPHA:48104
Noonan Syndrome 8
Palmoplantar cutis laxa, Hyperkeratosis, Curly hair, Eczema OMIM:615355
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Chilblain Lupus 1
Chilblains, Abnormality of the nail, Skin ulcer OMIM:610448
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein express... OMIM:247100
Autosomal Dominant Epidermolytic Ichthyosis
Hyperkeratosis, Palmoplantar keratoderma, Skin ulcer, Erythroderma ORPHA:312
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair, Palmoplantar keratoderma OMIM:610476
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Erythematous... OMIM:607602
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Plantar hyperkeratosis, Nail dystrophy, Pruritus OMIM:616487
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:602723
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis, Scaling skin OMIM:617115
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis, Erythroderma OMIM:113800
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair OMIM:615279
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Hyperkeratosis, Pili torti ORPHA:1573
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Palmoplantar hyperkeratosis, Cafe-au-lait spot, Mul... OMIM:615280
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair, Follicular hyperkeratosis OMIM:618546
Proliferating Trichilemmal Cyst
Sparse scalp hair, Epidermoid cyst, Skin ulcer ORPHA:492
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis, Skin nodule, Epidermal acanthosis ORPHA:199267
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Subcutaneous nodule, Skin ulcer ORPHA:231
Prolidase Deficiency
Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Pruritus, Crusting erythematous d... ORPHA:742
Peeling Skin Syndrome 1
Brittle hair, Eosinophilia, Pruritus, Onycholysis, Nail dystrophy, Scaling skin, Erythroderma OMIM:270300
Carvajal Syndrome
Woolly hair, Patchy palmoplantar hyperkeratosis ORPHA:65282
Leopard Syndrome 2
Curly hair, Cafe-au-lait spot, Dry skin, Multiple lentigines OMIM:611554
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atroph... ORPHA:542592
Bathing Suit Ichthyosis
Alopecia, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Palmoplantar scaling ... ORPHA:100976
Peeling Skin Syndrome 4
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ort... OMIM:607936
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Alopecia, Scaling skin on fingertip, Epidermal acanthosis, Honeycomb palmoplantar ... ORPHA:79395
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Ichthyosis Vulgaris
Absent keratohyalin granules, Eczematoid dermatitis, Dry skin OMIM:146700
Epidermolytic Palmoplantar Keratoderma
Abnormal fingernail morphology, Epidermal acanthosis, Epidermal hyperkeratosis, Diffuse palmoplan... ORPHA:2199
Bazex Syndrome
Parakeratosis, Yellow nails, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, ... ORPHA:166113
Noonan Syndrome 5
Curly hair, Sparse eyebrow, Fine hair, Cafe-au-lait spot, Multiple lentigines, Small nail, Nevus,... OMIM:611553
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Pachyonychia Congenita 2
Subungual hyperkeratosis, Dry hair, Sparse scalp hair, Epidermoid cyst, Sparse eyebrow, Palmoplan... OMIM:167210
Erythrokeratodermia Variabilis Et Progressiva 1
Epidermal acanthosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma OMIM:133200
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... OMIM:616099
Copper Deficiency, Familial Benign
Curly hair, Early balding, Seborrheic dermatitis OMIM:121270
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
Basan Syndrome
Epidermal acanthosis, Hypermelanotic macule, Palmoplantar keratoderma, Nail dystrophy, Milia OMIM:129200
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Erythematous pl... OMIM:618531
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Dry skin, Absent pubic hair, C... ORPHA:2269
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis, Whit... OMIM:604777
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Dyskeratosis Congenita
Macule, Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernai... ORPHA:1775
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokerat... OMIM:617525
Toxic Epidermal Necrolysis
Macule, Erythema, Skin ulcer, Acantholysis ORPHA:537
Chronic Mucocutaneous Candidiasis
Abnormal fingernail morphology, Skin rash, Pruritus, Erythema, Broad nail, Skin ulcer, Hyperkerat... ORPHA:1334
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Eryt... OMIM:612281
Juvenile Hyaline Fibromatosis
Aplasia/Hypoplasia of the skin, Abnormal hair morphology, Subcutaneous nodule, Skin ulcer, Papule ORPHA:2028
Ichthyosis Prematurity Syndrome
Epidermal acanthosis, Pruritus, Follicular hyperkeratosis, Erythroderma, Alopecia of scalp OMIM:608649
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant... OMIM:194300
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail ... OMIM:242300
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Acne, Pustule, Skin nodule, Pyoderma gangrenosum, E... ORPHA:3243
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, P... OMIM:148700
Acral Peeling Skin Syndrome
Macule, Eczema, Erythema, Scaling skin, Skin erosion, Papule, Excessive wrinkling of palmar skin ORPHA:263534
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Palmoplantar hyp... OMIM:300918
Acrokeratoelastoidosis Of Costa
Yellow papule, Epidermal acanthosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Skin ... ORPHA:38
Ichthyosis With Confetti
Pruritus, Palmoplantar hyperkeratosis, Hypoplastic nipples, Scaling skin, Erythroderma, Hypertric... OMIM:609165
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Chand Syndrome
Curly hair, Commissural lip pit, Nail dysplasia OMIM:214350
Stevens-Johnson Syndrome
Macule, Erythema, Acantholysis ORPHA:36426
Bazex-Dupre-Christol Syndrome
Eczema, Atopic dermatitis, Coarse hair, Milia, Nevus, Sparse hair, Trichoepithelioma, Acne invers... OMIM:301845
Familial Keratoacanthoma
Papule, Hyperkeratosis, Subcutaneous nodule, Skin ulcer ORPHA:493
Hennekam-Beemer Syndrome
Macule, Pruritus, Subcutaneous nodule, Erythema, Skin vesicle, Papule ORPHA:2135
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Palmoplantar keratoderm... OMIM:618535
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Epidermal acanthosis, Thin nail... OMIM:257980
Noonan Syndrome 6
Curly hair, Long eyebrows, Low posterior hairline, Multiple lentigines, Sparse hair, Cafe-au-lait... OMIM:613224
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Scaling skin, Spar... OMIM:604536
Porphyria Variegata
Localized skin lesion, Skin vesicle, Skin erosion, Milia, Hypertrichosis ORPHA:79473
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis, Sk... OMIM:620148
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... OMIM:129500
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry... ORPHA:1028
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Epidermal acanthosis, Erythroderma OMIM:615022
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair, Dry skin OMIM:129490
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis OMIM:610227
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Acrogeria
Aplasia/Hypoplasia of the skin, Skin ulcer, Fine hair, Excessive wrinkled skin, Thin skin ORPHA:2500
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ... ORPHA:163654
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Pustule, Erythema, Nail dystrophy OMIM:614204
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Eczema, Hyperkeratosis, Loose anagen hair, Long eyelashes, Multipl... OMIM:607721
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Pruritus, Hypopigmented skin patches,... ORPHA:330064
Lupus Erythematosus Tumidus
Urticarial plaque, Deep dermal perivascular inflammatory infiltrate, Erythematous plaque, Annular... ORPHA:90283
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Numerous nevi, Slow-growing hair, Absent eyelashes, Atopic dermatitis... OMIM:115150
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis, Erythema, Epidermal acanthosis OMIM:613943
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Skin rash, Trichiasis, Acantholysis, Skin ulcer, Atypical s... ORPHA:95455
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Epidermal acanthosis, Sparse eyebrow, Prur... OMIM:607626
Noonan Syndrome 2
Curly hair, Sparse eyebrow, Low posterior hairline, Hyperkeratosis, Nevus, Palmoplantar cutis lax... OMIM:605275
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Atypical scarring of ... ORPHA:90186
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Subcutaneous nodule, Sparse or absent eyelashes, Coarse hair, ... ORPHA:113
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Netherton Syndrome
Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Brittle scalp hair, Ec... OMIM:256500
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair ORPHA:1883
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail, Palmoplantar hyperkeratosis OMIM:619209
Cole Disease
Hypopigmented macule, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis,... OMIM:615522
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Synophrys, Coarse hair OMIM:616351
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair ORPHA:1806
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Cafe-au-lait spot, Hypopigmented skin patches, Capillary malformation ORPHA:457485
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Palmoplantar keratoderma, Skin fi... ORPHA:659
Noonan Syndrome 10
Curly hair, Sparse eyebrow, Hyperkeratosis, Palmoplantar cutis laxa, Cafe-au-lait spot OMIM:616564
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Dermal atrophy, Scaling skin ORPHA:454831
Dermatofibrosarcoma Protuberans
Subcutaneous nodule, Erythema, Skin ulcer ORPHA:31112
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse hair, Curly hair, Synophrys, Sparse eyebrow OMIM:620075
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Redundant neck skin, Highly arched eyebrow, Low posterior hairline, Thick eyebrow, Ne... OMIM:617360
White Sponge Nevus 2
Hyperparakeratosis, Epidermal acanthosis OMIM:615785
Noonan Syndrome 7
Curly hair, Numerous nevi, Low posterior hairline OMIM:613706
Amyloidosis, Primary Localized Cutaneous, 1
Pruritus, Dry skin, Scaling skin OMIM:105250
Cutaneous Mastocytoma
Macule, Maculopapular exanthema, Hypermelanotic macule, Pruritus, Hyperpigmented papule, Skin nod... ORPHA:79455
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Epidermal acanthosis, Thin nail, Abnormal hair morphology, Erythema, Hyperkeratosis, Pa... OMIM:242100
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Blepharitis, Decreased LDL cholesterol concentration, Hy... OMIM:616834
Trichothiodystrophy 8, Nonphotosensitive
Eczema, Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:619691
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Smith-Kingsmore Syndrome
Curly hair, Cafe-au-lait spot OMIM:616638
Idiopathic Localized Lipodystrophy
Pruritus, Inflammatory abnormality of the skin, Erythema, Scaling skin ORPHA:90158
Chikungunya
Macule, Skin rash, Maculopapular exanthema, Pruritus, Erythema nodosum, Crusting erythematous der... ORPHA:324625
Braddock-Carey Syndrome 1
Sparse hair, Curly hair OMIM:619980
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Hypermelanotic macule, Dry skin, Palmoplantar keratoderma, Hypomelanotic macule, Nail d... OMIM:618373
Noonan Syndrome 14
Curly hair, Sparse eyebrow, Low posterior hairline, Sparse hair, Dry skin OMIM:619745
Proteus Syndrome
Hyperkeratosis, Epidermal nevus, Epidermal acanthosis, Nevus OMIM:176920
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Ptosis, Hypocholesterolemia OMIM:610539
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Fine hair, Hyperkeratosis, Fragile nails, Nail dystrophy, Small nail... OMIM:601675
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair, Palmoplantar keratoderma OMIM:611528
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer ORPHA:36386
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Preauricular pit, Curly hair, Dermal translucency, Slow-growing hair, Highly arched eyebrow, Low ... OMIM:617506
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hyperkeratosis, Epidermal acanthosis, Erythroderma OMIM:615023
Noonan Syndrome 9
Sparse eyebrow, Curly hair OMIM:616559
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Palmoplan... ORPHA:2710
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Long eyelashes, Papule, Epidermal acanthosis OMIM:616069
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... ORPHA:2228
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrophic fingernails... ORPHA:1882
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion, Discoid lupus rash, Hyperkeratosis, Annular cutaneous lesion, Dermal atrophy... ORPHA:163525
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Pyoderma gangrenosum, Recurrent skin infections OMIM:616576
Brooke-Spiegler Syndrome
Skin appendage neoplasm, Skin-colored papule, Skin nodule, Skin ulcer, Trichoepithelioma, Cylindr... ORPHA:79493
Hereditary Mucoepithelial Dysplasia
Sparse hair, Hyperkeratosis, Alopecia, Fine hair ORPHA:1839
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin ORPHA:1114
Incontinentia Pigmenti
Ridged nail, Alopecia, Maculopapular exanthema, Eosinophilia, Supernumerary nipple, Erythema, Nai... OMIM:308300
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Skin ulcer, ... ORPHA:978
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Sparse eyebrow, Abnormal hair morphology,... ORPHA:634
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis OMIM:148600
Onychotrichodysplasia And Neutropenia
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... OMIM:258360
Trichohepatoneurodevelopmental Syndrome
Curly hair, Pruritus, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Woolly hair, T... OMIM:618268
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia OMIM:616029
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Alopecia, Erythema, Scaling skin ORPHA:90156
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Facial erythema... ORPHA:1010
Progeroid Syndrome, Petty Type
Brittle hair, Redundant skin, Abnormal hair morphology, Cutis laxa, Abnormality of the nail, Long... ORPHA:2963
Noonan Syndrome 4
Sparse eyebrow, Curly hair, High anterior hairline OMIM:610733
Reticular Dysgenesis
Skin rash, Skin ulcer ORPHA:33355
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Leukocyte Adhesion Deficiency Type Ii
Skin vesicle, Long eyelashes, Low anterior hairline, Broad eyebrow ORPHA:99843
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail OMIM:181600
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, Skin ulcer ORPHA:217390
Squalene Synthase Deficiency
Epicanthus, Increased circulating farnesol concentration, Decreased LDL cholesterol concentration... OMIM:618156
Chops Syndrome
Curly hair, Thick hair, Synophrys, Coarse hair, Long eyelashes, Thick eyebrow OMIM:616368
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Cafe-au-lait spot, Trichorrhexis n... OMIM:222470
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Dry skin, Fine hair, P... OMIM:129400
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Erythema, Skin ulcer, Ri... ORPHA:37
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis OMIM:615735
Prolidase Deficiency
Eczema, Crusting erythematous dermatitis, Skin ulcer, Low posterior hairline, Facial hirsutism, P... OMIM:170100
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Chand Syndrome
Curly hair, Nail dysplasia, Skin erosion, Commissural lip pit, Dry skin ORPHA:1401
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura ORPHA:743
Incontinentia Pigmenti
Alopecia, Abnormal fingernail morphology, Skin rash, Supernumerary nipple, Eosinophilia, Abnormal... ORPHA:464
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Brittle hair, Slow-growing hair, Dry skin OMIM:616943
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Generalized hirsutism, Skin ulcer ORPHA:2218
Costello Syndrome
Deep-set nails, Abnormal fingernail morphology, Redundant skin, Concave nail, Hypoplastic toenail... ORPHA:3071
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Weaver Syndrome
Deep-set nails, Abnormal fingernail morphology, Thin nail, Redundant skin, Hypoplastic toenails, ... ORPHA:3447
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Skin ulcer ORPHA:139578
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Skin rash, Skin ulcer ORPHA:229717
Papa Syndrome
Pustule, Acne, Skin ulcer ORPHA:69126
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Pyoderma gangrenosum, Acne OMIM:604416
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Dry skin, Scaling skin, Erythroderma OMIM:609180
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Werner Syndrome
Sparse scalp hair, Aplasia/Hypoplasia of the skin, Abnormal hair whorl, Lack of skin elasticity, ... ORPHA:902
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Skin rash, Hypopigmented skin patches, Skin ulcer ORPHA:47
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... ORPHA:35173
Calciphylaxis
Abnormality of skin physiology, Skin ulcer ORPHA:280062
Craniofrontonasal Syndrome
Ridged nail, Curly hair, Split nail, Widow's peak, Low posterior hairline, Unilateral breast hypo... OMIM:304110
Buerger Disease
Skin ulcer ORPHA:36258
Flynn-Aird Syndrome
Alopecia, Dermal atrophy, Skin ulcer ORPHA:2047
Hereditary Acrokeratotic Poikiloderma
Eczema, Pustule, Erythema, Hypopigmented skin patches, Palmoplantar hyperkeratosis, Skin ulcer, P... ORPHA:2907
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke... OMIM:615225
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Punctate Palmoplantar Keratoderma Type 1
Epidermal acanthosis, Abnormal epidermal morphology, Verrucous papule, Palmoplantar hyperkeratosi... ORPHA:79501
Mucoepithelial Dysplasia, Hereditary
Alopecia, Eosinophilia, Chronic mucocutaneous candidiasis, Coarse hair, Nail dystrophy, Nail dysp... OMIM:158310
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dyst... ORPHA:1657
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Acquired Purpura Fulminans
Macule, Erythematous macule, Skin rash, Pyoderma gangrenosum, Macular purpura ORPHA:49566
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Palmoplantar keratoderma,... ORPHA:3353
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Curly hair, Sacral dimple, Low anterior hairline, Excessive wrinkled skin, Long eyelashes, Horizo... OMIM:619950
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Diabetes mellitus, Increased VLDL cholesterol concentrat... OMIM:144650
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... OMIM:234050
Chronic Graft Versus Host Disease
Alopecia, Erythema, Intermittent generalized erythematous papular rash, Skin ulcer, Onycholysis, ... ORPHA:99921
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... OMIM:261900
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Sulfite Oxidase Deficiency, Isolated
Eczema, Fine hair OMIM:272300
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Folli... ORPHA:158668
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Distal Duplication 6P
Abnormal hair quantity, Sacral dimple, Abnormal eyelash morphology, Fine hair, Dry skin ORPHA:1745
Potocki-Lupski Syndrome
Downslanted palpebral fissures, Hypocholesterolemia OMIM:610883
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair, Hypocholesterolemia OMIM:618810
Craniofrontonasal Dysplasia
Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair ORPHA:1520
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Sacral dimple, Few c... OMIM:619503
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Redundant skin, Abnormal eyelash morphology, Low posterior hairl... ORPHA:1340
Ollier Disease
Subcutaneous nodule, Skin ulcer ORPHA:296
Autoinflammation With Arthritis And Dyskeratosis
Epidermal acanthosis, Hypereosinophilia, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, ... OMIM:617388
Infantile Myofibromatosis
Abnormal hair morphology, Subcutaneous nodule, Skin ulcer ORPHA:2591
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C... OMIM:219200
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Hyperkeratosis, Parakeratosis, Dry skin, Epidermal acanthosis OMIM:618527
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Skin ulcer ORPHA:220402
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Concave nail, Absent eyela... OMIM:305100
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow OMIM:617392
Leishmaniasis
Skin plaque, Skin ulcer, Pallor, Papule ORPHA:507
Vulto-Van Silfhout-De Vries Syndrome
Sacral dimple, Widow's peak, Horizontal eyebrow, Fine hair OMIM:615828
Neutrophilic Dermatosis, Acute Febrile
Cystic acne, Erythema, Pyoderma gangrenosum, Acne inversa OMIM:608068
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor... ORPHA:294023
Familial Multiple Nevi Flammei
Nevus flammeus, Skin ulcer, Hypermelanotic macule, Papule ORPHA:624
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Hyperkeratosis with erythema, Coarse hair OMIM:118650
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai... ORPHA:444077
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin skin, Nail dysplasia, Sparse ha... ORPHA:217346
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Brittle hair, Absent nipple, Sparse hair, Dry skin, Absent hair OMIM:614940
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Epidermodysplasia Verruciformis, Susceptibility To, 3
Palmar pits, Epidermal acanthosis OMIM:618267
Reynolds Syndrome
Pruritus, Skin rash, Skin ulcer ORPHA:779
Trichohepatoenteric Syndrome 2
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:614602
Menkes Disease
Sparse hair, Alopecia, Brittle hair, Cutis laxa OMIM:309400
Costello Syndrome
Deep-set nails, Curly hair, Redundant neck skin, Thin nail, Concave nail, Nevus, Sparse hair, Fra... OMIM:218040
Leprosy
Urticarial plaque, Absent eyebrow, Alopecia, Hypopigmented macule, Skin nodule, Loss of eyelashes... ORPHA:548
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Pyoderma gangrenosum, Chronic oral candidiasis OMIM:150550
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Polyarteritis Nodosa
Erythema, Subcutaneous nodule, Skin ulcer ORPHA:767
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Pustule, Hyperkeratosis, Skin rash, Epidermal acanthosis OMIM:612852
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Dry skin, Broad eyebrow OMIM:619244
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Pruritus, Subcutaneous nodule, Skin ulcer, Papule ORPHA:556
Juvenile Dermatomyositis
Alopecia, Skin rash, Pruritus, Erythema, Skin ulcer, Dry skin ORPHA:93672
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Chronic Granulomatous Disease
Macule, Eczema, Skin ulcer, Hypermelanotic macule ORPHA:379
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Livedoid Vasculopathy
Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Skin ulcer, A... ORPHA:542643
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding OMIM:616390
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Long eyelashes, Fine hair ORPHA:231137
Takayasu Arteritis
Subcutaneous nodule, Skin ulcer ORPHA:3287
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... OMIM:300953
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... ORPHA:96180
Chime Syndrome
Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair ORPHA:3474
Kaufman Oculocerebrofacial Syndrome
Epicanthus, Telecanthus, Blepharophimosis, Sparse eyebrow, Upslanted palpebral fissure, Hypochole... OMIM:244450
Eec Syndrome
Aplasia/Hypoplasia of the skin, Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Hyperker... ORPHA:1896
Free Sialic Acid Storage Disease
Skin ulcer ORPHA:834
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Erythematous plaque, Erythematous papule, Skin ulcer ORPHA:86884
Autosomal Dominant Severe Congenital Neutropenia
Pyoderma gangrenosum, Recurrent skin infections, Eosinophilia ORPHA:486
Dermatomyositis
Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Abnormal eosinophil morphology, Pruritus,... ORPHA:221
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology, Nevus ORPHA:398189
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Subcutaneous nodule, Leukony... ORPHA:2526
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Zttk Syndrome
Sparse eyebrow, Curly hair, Broad eyebrow OMIM:617140
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea OMIM:607765
Microscopic Polyangiitis
Erythema, Subcutaneous nodule, Skin rash, Skin ulcer ORPHA:727
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology ORPHA:3082
Cutis Laxa, Autosomal Recessive, Type Iiib
Cutis laxa, Fine hair, Excessive wrinkled skin, Thin skin, Sparse hair, Dermal translucency OMIM:614438
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi ORPHA:643
Fusariosis
Maculopapular exanthema, Paronychia, Subcutaneous nodule, Skin ulcer, Skin detachment, Papule ORPHA:228119
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Alopecia, Epidermal nevus, Epidermal acanthosis, Erythema, Hyperkeratosis, Small n... OMIM:308050
Tonne-Kalscheuer Syndrome
Fine hair, Small nail, Concave nail OMIM:300978
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Brittle hair, Nail dystrophy ORPHA:75389
Tangier Disease
Ectropion, Hypertriglyceridemia, Nail dystrophy, Hypocholesterolemia ORPHA:31150
Ogden Syndrome
Capillary malformation, Cutis laxa, Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:276432
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... ORPHA:1071
Hereditary Spherocytosis
Maculopapular exanthema, Pallor, Skin ulcer ORPHA:822
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Koolen-De Vries Syndrome
Sacral dimple, Eczema, Abnormality of hair texture, Dry skin, Fair hair OMIM:610443
Dubowitz Syndrome
Sparse scalp hair, Ptosis, Epicanthus, Telecanthus, Hypocholesterolemia, Blepharophimosis, Short ... OMIM:223370
Systemic Sclerosis
Alopecia, Recurrent skin infections, Nail bed telangiectasia, Cutaneous sclerotic plaque, Pruritu... ORPHA:90291
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer, Nail dystrophy, Recurrent loss of toenails and fingernails OMIM:245660
Cryoglobulinemic Vasculitis
Petechiae, Skin ulcer, Purpura ORPHA:91138
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal hair morphology, Abnor... ORPHA:79474
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Supernumerary nipple, Aplastic/hypoplastic toenail, Fine hair, Thin skin, Dry skin, Aplasia/Hypop... ORPHA:1812
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer OMIM:613640
Immunoglobulin A Vasculitis
Macule, Skin rash, Pustule, Erythema, Skin ulcer, Purpura ORPHA:761
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Fine hair OMIM:616817
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Sparse hair, Synophrys, Low anterior hairline, Fine hair ORPHA:391408
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Eczema, Low anterior hairline, Low posterior hairlin... OMIM:601358
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration OMIM:613115
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant neck skin, Thick hair, Redundant skin, Cutis laxa, Excessive wrinkled skin, Coarse hair... ORPHA:357074
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin OMIM:613990
Koolen-De Vries Syndrome
Hypopigmentation of hair, Dry skin, Abnormality of hair texture ORPHA:96169
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Ke... ORPHA:14
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow OMIM:617412
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Congenital exfoliative erythroderma, Ec... ORPHA:33364
Alg12-Cdg
Hyponatremia, Epicanthus, Low posterior hairline, Recurrent hypoglycemia, Hypoalbuminemia, Hypoch... ORPHA:79324
Cushing Disease
Sparse scalp hair, Striae distensae, Acne, Recurrent cutaneous fungal infections, Skin ulcer, Thi... ORPHA:96253
Pgm3-Cdg
Recurrent skin infections, Eczema, Eosinophilia, Atopic dermatitis, Skin ulcer, Cutaneous abscess ORPHA:443811
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer ORPHA:424019
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair OMIM:617988
Hall-Riggs Syndrome
Coarse hair, Slow-growing hair, Thick hair ORPHA:2107
Cranioectodermal Dysplasia 3
Short nail, Broad nail, Cutis laxa, Fine hair, Sparse hair, Dry skin OMIM:614099
Mucopolysaccharidosis, Type Iiib
Synophrys, Coarse hair, Hirsutism OMIM:252920
Mucopolysaccharidosis, Type Iiic
Synophrys, Coarse hair, Hirsutism, Hypertrichosis OMIM:252930
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Sacral dimple, Hypoplastic nipples, Hypertrichosis ORPHA:480880
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... OMIM:190350
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Cutis laxa, Thick eyebrow, Fine hair OMIM:614800
Mucopolysaccharidosis, Type Iiia
Synophrys, Coarse hair, Hirsutism OMIM:252900
Macrocephaly/Autism Syndrome
Coarse hair, Cutis laxa OMIM:605309
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Synophrys, Fine hair OMIM:619428
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sparse eyebrow, Curly hair, Broad lateral eyebrow ORPHA:500150
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Blau Syndrome
Erythema nodosum, Eczema, Skin ulcer, Intermittent generalized erythematous papular rash OMIM:186580
Congenital Disorder Of Glycosylation, Type Ia
Almond-shaped palpebral fissure, Hypoalbuminemia, Steatorrhea, Hypocholesterolemia OMIM:212065
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Thin skin, Sparse hair, Der... OMIM:612199
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Ecz... ORPHA:83617
Trichothiodystrophy 3, Photosensitive
Tiger tail banding, Brittle hair, Trichorrhexis nodosa OMIM:616395
Giant Cell Arteritis
Alopecia, Skin ulcer ORPHA:397
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Synophrys, Long eyelashes, Fine hair OMIM:620250
Ablepharon Macrostomia Syndrome
Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fine hair, Excessive wri... ORPHA:920
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Fetal Hydantoin Syndrome
Coarse hair, Hypoplastic fingernail, Low posterior hairline ORPHA:1912
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Subungual hyperkeratosis, Alopecia, Absent eyebrow, Sparse scalp hair, Eczema, Recurrent skin inf... OMIM:308205
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Hypopigmented skin patches, Fine hair, Multiple cafe-au-lait spots, Dry skin, Aplasia/Hypoplasia ... ORPHA:2637
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Nevus, Sparse hair OMIM:613451
Leukocyte Adhesion Deficiency, Type I
Skin ulcer, Chronic mucocutaneous candidiasis OMIM:116920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Paronychia, Acral ulceration OMIM:201300
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Alopecia, Brittle hair, Dermal atrophy OMIM:608612
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Urticarial plaque, Skin rash, Eczema, Erythema nodosum, Skin ulcer, Purpura OMIM:615688
Schimke Immunoosseous Dysplasia
Macule, Coarse hair, Hypermelanotic macule, Fine hair OMIM:242900
Dubowitz Syndrome
Sparse scalp hair, Sacral dimple, Abnormal fingernail morphology, Eczema, Hypoplastic toenails, L... ORPHA:235
Acrofacial Dysostosis, Catania Type
Preauricular pit, Coarse hair, Abnormal hair pattern ORPHA:1786
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Acral ulceration OMIM:162400
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Pustule, Subcutaneous nodule, Skin ulcer, Papule ORPHA:68
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair ORPHA:363686
Infantile Systemic Hyalinosis
Subcutaneous nodule, Skin ulcer ORPHA:2176
Hajdu-Cheney Syndrome
Abnormal fingernail morphology, Synophrys, Low anterior hairline, Skin ulcer, Coarse hair, Dry sk... ORPHA:955
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Acral ulceration, Nail dystrophy, Nail dysplasia OMIM:256800
Mucopolysaccharidosis-Plus Syndrome
Synophrys, Low anterior hairline, Low posterior hairline, Coarse hair, Long eyelashes, Hirsutism OMIM:617303
Diamond-Blackfan Anemia 21
Synophrys, Widow's peak, Coarse hair, Horizontal eyebrow, Nevus OMIM:620072
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Dermal atrophy, Sparse h... ORPHA:2108
Weaver Syndrome
Deep-set nails, Thin nail, Cutis laxa, Fine hair, Melanocytic nevus, Sparse hair OMIM:277590
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Diffuse Cutaneous Systemic Sclerosis
Skin ulcer ORPHA:220393
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair ORPHA:3079
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Cafe-au-lait spot, Uncombable hair, Woolly hair, Dry skin... ORPHA:84064
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Brittle hair, Nail dystrophy ORPHA:93947
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Preauricular skin tag, Mongolian blue spot, Dry hair, Low anterior hairline OMIM:618569
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair OMIM:614091
Cerebrofaciothoracic Dysplasia
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow ORPHA:1394
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture ORPHA:88618
Gorlin-Chaudhry-Moss Syndrome
Coarse hair, Low anterior hairline, Generalized hirsutism ORPHA:2095
Cartilage-Hair Hypoplasia
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair OMIM:250250
Opitz-Kaveggia Syndrome
Skin tags, Sacral dimple, Facial wrinkling, Fine hair, Frontal upsweep of hair, Sparse hair OMIM:305450
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Dermal atrophy, Sparse hair, Dry ... OMIM:234100
Trisomy 20P
Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Th... ORPHA:261318
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Synophrys, Hypoplastic sweat glands, Orthokeratotic hyperkeratosis, ... ORPHA:73223
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Parkes Weber Syndrome
Erythematous plaque, Capillary malformation, Scaling skin, Skin ulcer ORPHA:90307
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Eczema, Skin ulcer, Petechiae, Purpura ORPHA:906
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Palmoplantar hyperkeratosis, Fine hair, Hypoplastic nipples, Sparse hair, ... OMIM:280000
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair OMIM:236200
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
Catastrophic Antiphospholipid Syndrome
Skin ulcer ORPHA:464343
Orofaciodigital Syndrome Type 3
Abnormality of hair texture ORPHA:2752
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas... OMIM:181270
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
2P15P16.1 Microdeletion Syndrome
Sparse eyebrow, Long eyelashes, Supernumerary nipple, Fine hair ORPHA:261349
Revesz Syndrome
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail OMIM:268130
Blau Syndrome
Skin rash, Erythema nodosum, Erythema, Skin ulcer, Dry skin, Papule ORPHA:90340
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Sparse eyelashes, Fine hair OMIM:257850
Granulomatosis With Polyangiitis
Skin ulcer, Skin rash, Papule, Purpura ORPHA:900
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Lip pit, Coarse hair, Sparse hair, Dry skin, Milia ORPHA:2750
Galloway-Mowat Syndrome 9
Coarse hair OMIM:619603
Mucopolysaccharidosis, Type Iiid
Synophrys, Hirsutism, Coarse hair, Facial hirsutism, Thick eyebrow OMIM:252940
Lateral Meningocele Syndrome
Keloids, Coarse hair OMIM:130720
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture ORPHA:79351
Cerebellofaciodental Syndrome
Sparse eyebrow, Preauricular skin tag, Fine hair OMIM:616202
Multiple Sulfatase Deficiency
Coarse hair, Thick eyebrow ORPHA:585
Beta-Thalassemia Major
Pallor, Skin ulcer ORPHA:231214
Pseudoxanthoma Elasticum
Civatte bodies, Yellow papule, Cutis laxa OMIM:264800
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Fine hair ORPHA:251028
Cushing Syndrome Due To Ectopic Acth Secretion
Sparse scalp hair, Striae distensae, Acne, Recurrent cutaneous fungal infections, Skin ulcer, Thi... ORPHA:99889
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Menkes Disease
Hypopigmentation of hair, Atypical scarring of skin, Sparse hair, Woolly hair, Dry skin ORPHA:565
Primary Sjögren Syndrome
Erythema nodosum, Skin ulcer, Dry skin, Lichenoid skin lesion, Purpura ORPHA:289390
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Coarse hair, Nail dysplasia OMIM:612394
Mucopolysaccharidosis, Type Vii
Coarse hair, Thick eyebrow, Hirsutism OMIM:253220
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair OMIM:619184
Plague
Chapped lip, Skin rash, Erythema nodosum, Localized skin lesion, Skin ulcer, Dry skin ORPHA:707
Oculocerebrorenal Syndrome Of Lowe
Atypical scarring of skin, Sparse scalp hair, Skin ulcer, Fine hair ORPHA:534
Argininosuccinic Aciduria
Dry hair, Brittle hair, Trichorrhexis nodosa OMIM:207900
Cockayne Syndrome B
Dry hair, Abnormal hair morphology, Atypical scarring of skin, Dermal atrophy, Sparse hair, Dry skin OMIM:133540
Ogden Syndrome
Redundant neck skin, Redundant skin, Eczema, Facial wrinkling, Sparse eyebrow, Fine hair, Cutis l... OMIM:300855
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Acral ulceration OMIM:256840
Genitopatellar Syndrome
Sparse scalp hair, Fine hair ORPHA:85201
Fontaine Progeroid Syndrome
Sparse scalp hair, Dermal translucency, Absent nipple, Redundant skin, Synophrys, Low anterior ha... OMIM:612289
Neuropathy, Hereditary Sensory And Autonomic, Type V
Acral ulceration OMIM:608654
Oculodentodigital Dysplasia
Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails OMIM:164200
Granulomatosis With Polyangiitis
Skin ulcer OMIM:608710
Marshall-Smith Syndrome
Brittle hair, Highly arched eyebrow, Synophrys, Melanocytic nevus, Sparse hair, Thick eyebrow, Hy... OMIM:602535
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Sparse hair, Brittle hair, Fine hair OMIM:618891
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Hyperkeratosis, Sparse hair, Dry ... OMIM:210710
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Fine hair, Low posterior hairline, Sparse hair, Cafe-au-lait spot OMIM:613563
Lysinuric Protein Intolerance
Sparse hair, Cutis laxa, Fine hair OMIM:222700
Smith-Lemli-Opitz Syndrome
Epicanthus, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholest... OMIM:270400
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Erythema, Fine hair, Onycholysis, Nail dystr... OMIM:614748
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair OMIM:607812
Autosomal Recessive Malignant Osteopetrosis
Pallor, Abnormality of hair texture ORPHA:667
Charcot-Marie-Tooth Disease Type 4B2
Penetrating foot ulcers ORPHA:99956
Cerebellar-Facial-Dental Syndrome
Sparse hair, Sparse eyebrow, Fine hair ORPHA:444072
Mucopolysaccharidosis Type 3
Thick hair, Synophrys, Coarse hair, Generalized hirsutism, Hirsutism ORPHA:581
Noonan Syndrome
Abnormal hair quantity, Coarse hair, Melanocytic nevus, Low posterior hairline ORPHA:648
Orofaciodigital Syndrome I
Sparse hair, Alopecia, Dry hair, Milia OMIM:311200
Adrenomyeloneuropathy
Frontal balding, Fine hair ORPHA:139399
Cockayne Syndrome A
Sparse hair, Dry hair, Dry skin, Atypical scarring of skin OMIM:216400
Occipital Horn Syndrome
Coarse hair, Pili torti, Redundant skin OMIM:304150
Simple Cryoglobulinemia
Localized skin lesion, Acral ulceration, Purpura ORPHA:91139
Cockayne Syndrome
Premature skin wrinkling, Dry hair, Malar rash, Fine hair ORPHA:191
Distal Deletion 12Q
Late onset atopic dermatitis, Small nail, Fine hair ORPHA:96149
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Brittle hair, Sparse hair OMIM:252500
Mucolipidosis Type Ii
Dry hair, White hair, Fine hair ORPHA:576
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair ORPHA:935
Cranioectodermal Dysplasia 1
Slow-growing hair, Short nail, Thin nail, Fine hair, Sparse hair OMIM:218330
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Supernumerary nipple, Focal dermal aplasia/hypoplasia, Patchy alopecia... OMIM:305600
Occipital Horn Syndrome
Atypical scarring of skin, Keloids, Coarse hair, Thick hair ORPHA:198
Coffin-Siris Syndrome 1
Sparse scalp hair, Dry hair, Sacral dimple, Hypoplastic fifth fingernail, Lumbosacral hirsutism, ... OMIM:135900
Vascular Ehlers-Danlos Syndrome
Macule, Alopecia, Redundant skin, Abnormality of hair texture, Abnormal eyelash morphology, Subcu... ORPHA:286
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ecchymosis, Skin ulcer ORPHA:2072
Adenocarcinoma Of The Anal Canal
Skin ulcer ORPHA:424016
Coffin-Lowry Syndrome
Highly arched eyebrow, Cutis laxa, Hyperconvex fingernails, Coarse hair, Thick eyebrow OMIM:303600
Liver Disease, Severe Congenital
Dry hair, Eczema, Nail dystrophy, Blue nevus, Dermal translucency OMIM:619991
Noonan Syndrome 1
Woolly hair, Cafe-au-lait spot, Dry skin, Low posterior hairline OMIM:163950
Leukocyte Adhesion Deficiency
Recurrent skin infections, Perianal abscess, Pyoderma gangrenosum, Nail dystrophy, Chronic oral c... ORPHA:2968
Split Cord Malformation
Tufted hairs, Skin dimple, Penetrating foot ulcers, Hypertrichosis ORPHA:573278
Cockayne Syndrome Type 3
Premature graying of hair, Dry hair ORPHA:90324
Myhre Syndrome
Sparse hair, Thick eyebrow, Fine hair OMIM:139210
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Fine hair OMIM:241080
Melnick-Needles Syndrome
Coarse hair, Frontal hirsutism OMIM:309350
Neuroocular Syndrome
Sacral dimple, Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Distic... OMIM:619539
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acral ulceration OMIM:256810
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Hyperconvex nail, Eczema, Fine hair, High anterior hairline, Fragi... OMIM:613406
Renpenning Syndrome 1
Sparse hair, Brittle hair, Sparse lateral eyebrow OMIM:309500
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair OMIM:124000
Alström Syndrome
Frontal balding, Hirsutism, Fine hair ORPHA:64

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 Tuft1

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 Tuft1.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Disruption of tuftelin 1, a desmosome associated protein, causes skin fragility, woolly hair and palmoplantar keratoderma. The Journal of investigative dermatology (September 2023) Tuft1tm1a(KOMP)Wtsi 37716648
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Tuft1tm1a(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Tuft1tm1a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Tuft1tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Tuft1tm1a(KOMP)Wtsi PMC6459510
TUFT1 interacts with RABGAP1 and regulates mTORC1 signaling. Cell discovery (January 2018) Tuft1tm1a(KOMP)Wtsi PMC5798889
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Tuft1tm1a(KOMP)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Tuft1tm115823(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tuft1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tuft1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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