Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
transient receptor potential cation channel, subfamily V, member 3
Synonyms:
Nh,  VRL3,  1110036I10Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Trpv3 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 Trpv3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Olmsted Syndrome 1
Nail dysplasia, Alopecia universalis, Sparse hair, Subungual hyperkeratosis, Pruritus, Nail dystr... OMIM:614594
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Alopecia, Erythema, Abnormal fingernail morphology, Skin ulcer, Palmoplantar keratod... ORPHA:659

The table below shows human diseases predicted to be associated to Trpv3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Pili canaliculi OMIM:617252
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Mannose-Binding Lectin Deficiency
Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningococcal disease, Diss... OMIM:614372
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair OMIM:616760
Hypotrichosis Simplex Of The Scalp
Sparse scalp hair, Epidermal acanthosis, Atopic dermatitis, Allergic rhinitis, Hyperkeratosis, Fi... ORPHA:90368
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Hyperkeratosis, Scaling skin, Pruritus, Orthokeratotic hyperkeratosis OMIM:617571
Epidermolytic Hyperkeratosis
Erythroderma, Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis OMIM:113800
Ulerythema Ophryogenesis
Dry skin, Follicular hyperkeratosis, Facial erythema, Contact dermatitis, Acne, Hyperkeratotic pa... ORPHA:3406
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Atopic dermatitis, Erythema, Dry skin, Palmoplantar scaling ... ORPHA:530838
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Epidermal acanthosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis OMIM:133200
Kerion Celsi
Alopecia, Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Recurrent ... ORPHA:499
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Abnormal epidermal morphology, Perifolliculitis, Maculopapu... ORPHA:79147
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Witkop Syndrome
Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail OMIM:189500
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Palmoplantar hyperkeratosis, Hyperkeratosis,... OMIM:602540
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Epidermal acanthosis, Congenital alopecia totalis, Sparse eyebrow, Cutis laxa, Absent pubic hair,... ORPHA:2269
Peeling Skin Syndrome 1
Brittle hair, Scaling skin, Nail dystrophy, Pruritus, Erythroderma, Onycholysis OMIM:270300
Ichthyosis, Congenital, Autosomal Recessive 5
Epidermal acanthosis, Orthokeratosis, White scaling skin, Erythroderma, Palmoplantar keratoderma,... OMIM:604777
Verrucous Hemangioma
Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin ORPHA:464318
Bathing Suit Ichthyosis
Epidermal acanthosis, Sparse hair, Alopecia, Palmoplantar hyperkeratosis, Scaling skin, Nail dyst... ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 6
Epidermal acanthosis, Orthokeratosis, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Palmo... OMIM:612281
Psoriasis 2
Epidermal acanthosis, Psoriasiform dermatitis, Hyperkeratosis, Scaling skin, Parakeratosis OMIM:602723
Ichthyosis Prematurity Syndrome
Epidermal acanthosis, Follicular hyperkeratosis, Allergic rhinitis, Pruritus, Erythroderma, Alope... OMIM:608649
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Dry skin, Palmoplantar hyperkeratosis, Alopecia totalis, Facial erythema, Hyperke... OMIM:212360
Ichthyosis With Confetti
Hypertrichosis, Palmoplantar hyperkeratosis, Hypoplastic nipples, Scaling skin, Pruritus, Erythro... OMIM:609165
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma, Palmoplantar keratoderma, Epidermal acanthosis OMIM:615022
Ichthyosis Vulgaris
Absent keratohyalin granules, Eczematoid dermatitis, Dry skin OMIM:146700
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Epidermal acanthosis, Sparse hair, Alopecia, Palmoplantar hyperkeratosis, Nail dy... OMIM:242300
Dissecting Cellulitis Of The Scalp
Abnormal hair morphology, Pruritus, Recurrent skin infections ORPHA:345
Oculotrichodysplasia
Nail dysplasia, Sparse scalp hair, Sparse axillary hair, Sparse eyelashes, Fragile nails, Sparse ... OMIM:257960
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... ORPHA:3361
Pityriasis Rubra Pilaris
Pustule, Eczema, Subungual hyperkeratosis, Pruritus, Erythroderma, Palmoplantar keratoderma, Abno... ORPHA:2897
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Lamellar Ichthyosis
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Lack of skin elasticity, Chronic otitis media, Dr... ORPHA:313
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Woolly Hair, Autosomal Dominant
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology OMIM:194300
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Epidermal acanthosis, Leukonychia, Onycholysis, Hyperkeratosis, Scaling skin, Palmoplantar kerato... OMIM:616295
Ficolin 3 Deficiency
Necrotizing enterocolitis, Recurrent abscess formation, Recurrent lower respiratory tract infecti... OMIM:613860
Hypotrichosis 6
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Follicular hyp... OMIM:607903
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Peeling Skin Syndrome 4
Epidermal acanthosis, Orthokeratosis, Hyperkeratosis, Scaling skin, Nail dystrophy, Palmoplantar ... OMIM:607936
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Palmoplantar keratoderma, Hyperkeratosis, Skin ulcer ORPHA:312
Intellectual Developmental Disorder, Fra12A Type
Erythroderma, Hyperkeratosis OMIM:136630
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin, Pruritus OMIM:617920
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Acquired Ichthyosis
Recurrent skin infections, Erythema, Dry skin, Hyperkeratosis, Pruritus, Palmoplantar keratoderma ORPHA:454
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma, Palmoplantar keratoderma, Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:615024
Classic Mycosis Fungoides
Skin rash, Alopecia, Eczema, Erythema, Dry skin, Hyperkeratosis, Pruritus, Skin ulcer, Abnormalit... ORPHA:2584
Candidiasis, Familial, 1
Recurrent viral infections, Chronic mucocutaneous candidiasis, Alopecia OMIM:114580
Bazex Syndrome
Yellow nails, Hyperkeratosis, Scaling skin, Nail dystrophy, Pruritus, Palmoplantar keratoderma, P... ORPHA:166113
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Tooth Agenesis, Selective, 8
Dry skin, Sparse hair, Sparse eyebrow OMIM:617073
Congenital Disorder Of Glycosylation, Type If
Erythroderma, Hyperkeratosis, Scaling skin, Dry skin OMIM:609180
Ichthyosis, Congenital, Autosomal Recessive 11
Pili torti, Blepharitis, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Sparse ey... OMIM:602400
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... ORPHA:2890
Acrokeratosis Verruciformis
Epidermal acanthosis, Hyperkeratosis, Ridged nail OMIM:101900
Chronic Actinic Dermatitis
Epidermal acanthosis, Eczema, Allergic rhinitis, Late onset atopic dermatitis, Pruritus, Erythrod... ORPHA:330064
Complement Component 5 Deficiency
Recurrent meningococcal disease, Generalized seborrheic dermatitis, Recurrent Neisserial infections OMIM:609536
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Orthokeratosis, Sparse hair, Recurrent skin infections, Acantholysis, Erythroderma, Palmoplantar ... OMIM:615508
Congenital Non-Bullous Ichthyosiform Erythroderma
Keratitis, Alopecia, Pruritus, Erythroderma, Palmoplantar keratoderma, Abnormality of the nail ORPHA:79394
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratitis, Blepharitis, Folliculitis, Sparse eyebrow, Sparse eyelashes, Dry skin, Follicular hype... OMIM:308800
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Dermatitis, Atopic
Recurrent skin infections, Pallor, Eczema, Atopic dermatitis, Dry skin, Facial erythema, Allergic... OMIM:603165
Keratoderma Hereditarium Mutilans With Ichthyosis
Epidermal acanthosis, Orthokeratosis, Alopecia, Palmoplantar hyperkeratosis, Hyperkeratosis, Scal... ORPHA:79395
Cd8 Deficiency, Familial
Bronchiectasis, Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory... OMIM:608957
Pemphigus Foliaceus
Pustule, Erythema, Acantholysis, Crusting erythematous dermatitis, Pruritus, Scaling skin, Erythr... ORPHA:79481
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Skin Fragility-Woolly Hair Syndrome
Woolly hair, Sparse eyebrow, Alopecia, Sparse eyelashes, Palmoplantar erythema, Palmoplantar scal... OMIM:607655
Monilethrix
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy OMIM:158000
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratos... ORPHA:505
Ectodermal Dysplasia/Skin Fragility Syndrome
Sparse hair, Absent eyebrow, Palmoplantar hyperkeratosis, Scaling skin, Absent eyelashes, Dystrop... OMIM:604536
Sézary Syndrome
Alopecia, Dry skin, Nail dystrophy, Pruritus, Erythroderma, Palmoplantar keratoderma ORPHA:3162
Erythrokeratodermia Variabilis
Generalized hirsutism, Skin rash, Alopecia, Erythema, Dry skin, Patchy palmoplantar hyperkeratosi... ORPHA:317
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... ORPHA:444
Quinquaud Folliculitis Decalvans
Pustule, Patchy alopecia, Recurrent skin infections, Scarring alopecia of scalp, Abnormal hair mo... ORPHA:346
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin, Cutis laxa, Pruritus OMIM:105250
Olmsted Syndrome 2
Alopecia universalis, Cheilitis, Epidermal acanthosis, Woolly hair, Sparse hair, Palmoplantar hyp... OMIM:619208
Hypotrichosis 1
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... OMIM:605389
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... OMIM:611521
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent respiratory infections, Recurrent... OMIM:613501
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Immunodeficiency 84
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia OMIM:619437
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Pili torti, Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyel... ORPHA:2891
Cole Disease
Palmoplantar keratoderma, Hyperkeratosis, Epidermal acanthosis OMIM:615522
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... OMIM:300310
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Dry skin, Abnormal fingernail morphology, Fine hair, Abnormal toenail morphology, Abnor... ORPHA:248
Ectodermal Dysplasia 4, Hair/Nail Type
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... OMIM:602032
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis, Hyperkeratosis OMIM:615028
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair OMIM:234030
Dermoodontodysplasia
Nail dysplasia, Dry skin, Trichodysplasia OMIM:125640
Pili Torti
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... ORPHA:2889
Netherton Syndrome
Sparse scalp hair, Skin rash, Sparse eyebrow, Sparse eyelashes, Eczema, Trichorrhexis nodosa, Dry... ORPHA:634
Ichthyosis, Congenital, Autosomal Recessive 9
Erythroderma, Epidermal acanthosis, Orthokeratosis, Hyperkeratosis OMIM:615023
Peeling Skin Syndrome 5
Epidermal acanthosis, Hyperkeratosis OMIM:617115
Complement Factor B Deficiency
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia OMIM:615561
Mal De Meleda
Epidermal acanthosis, Inflammatory abnormality of the skin, Erythema, Superficial dermal perivasc... ORPHA:87503
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Erythema, Scaling skin, Pruritus ORPHA:90158
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pustule, Psoriasiform lesion, Superficial dermal perivascular inflammatory infiltrate, Scaling sk... ORPHA:284426
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Alopecia, Lymphadenitis, Erythema, Scaling skin ORPHA:90156
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes ORPHA:55654
Netherton Syndrome
Sparse scalp hair, Brittle hair, Sparse eyebrow, Brittle scalp hair, Allergic rhinitis, Erythrode... OMIM:256500
Palmoplantar Keratoderma, Nagashima Type
Epidermal acanthosis, Orthokeratotic hyperkeratosis OMIM:615598
Acral Peeling Skin Syndrome
Eczema, Erythema, Excessive wrinkling of palmar skin, Scaling skin ORPHA:263534
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Perioral erythema, Pustule, Paronychia, Perianal erythema, Onychogryposis, Erythroderma OMIM:614328
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp OMIM:610753
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse hair, Sparse eyebrow, Sparse eyelashes, Dry skin, Ridged nail, Fine hair, Slow-growing hair OMIM:129490
Huriez Syndrome
Lack of skin elasticity, Dry skin, Palmoplantar keratoderma, Abnormality of the nail, Small nail ORPHA:384
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Dry skin ORPHA:1954
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Epidermal acanthosis, Crusting erythematous dermatitis, Cutis laxa ORPHA:79148
Hypotrichosis 12
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dry hair, Sparse or absent eyelashes, Slow-growin... OMIM:615885
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly scalp hair, Woolly hair, Alopecia OMIM:601217
Erosive Pustular Dermatosis Of The Scalp
Erythema, Scarring alopecia of scalp, Abnormal hair morphology, Pustule ORPHA:222
Sabinas Brittle Hair Syndrome
Nail dysplasia, Sparse hair, Brittle hair, Dry hair, Nail dystrophy OMIM:211390
Atrophoderma Vermiculata
Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Pruritus, Hyperkeratotic papule ORPHA:79100
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Hyperkeratosis, Erythema, Palmoplantar hyperkeratosis OMIM:617526
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Cutaneous abscess, Chronic furunculosis OMIM:619986
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Hyperkeratosis, Erythema, Epidermal acanthosis OMIM:617525
Pili Torti, Early-Onset
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... OMIM:261900
Corneodermatoosseous Syndrome
Erythroderma, Onycholysis, Palmoplantar hyperkeratosis OMIM:122440
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections OMIM:614868
Cardiofaciocutaneous Syndrome 2
Fine hair, Sparse hair, Curly hair, Absent eyebrow OMIM:615278
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent skin infections, Alopecia, Eczema, Atopic dermatitis, Chronic mucocutaneous candidiasis... OMIM:618282
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Naxos Disease
Sparse scalp hair, Abnormality of hair texture, Woolly hair, Curly hair ORPHA:34217
Hypotrichosis 5
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair OMIM:612841
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Epidermal acanthosis, Orthokeratosis, Sparse hair, Alopecia, Sparse eyelashes, Dry skin, Cholangi... OMIM:607626
Immunodeficiency 27B
Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl... OMIM:615978
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin, Chilblains OMIM:612952
Hidrotic Ectodermal Dysplasia
Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ... ORPHA:189
Olmsted Syndrome, X-Linked
Blepharitis, Posterior blepharitis, Epidermal acanthosis, Subungual hyperkeratosis, Palmoplantar ... OMIM:300918
Epidermolysis Bullosa Dystrophica, Pretibial
Nail dystrophy, Hyperkeratosis, Pruritus OMIM:131850
Trichothiodystrophy 1, Photosensitive
Pili torti, Sparse hair, Brittle hair, Tiger tail banding, Fragile nails, Trichorrhexis nodosa, D... OMIM:601675
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Dry hair, Sparse hair, Onychogryposis of toenails OMIM:164680
Anonychia With Flexural Pigmentation
Anonychia, Dry skin OMIM:106750
Seborrhea-Like Dermatitis With Psoriasiform Elements
Epidermal acanthosis, Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow, Palmoplantar er... OMIM:104100
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613736
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Epidermal acanthosis, Leukonychia, Sparse hair, Sparse eyebrow, Sparse axillar... OMIM:613102
Alopecia-Intellectual Disability Syndrome 4
Erythroderma, Alopecia OMIM:618840
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Nail dysplasia, Absent eyebrow, Alopecia, Dry skin, Follicular hyperkeratosis, Scaling... OMIM:308205
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Copper Deficiency, Familial Benign
Early balding, Curly hair, Seborrheic dermatitis OMIM:121270
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Pruritus OMIM:146750
Omenn Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow, Dry skin, Pruritus, Pneumonia, Erythroderma, Thyroid... ORPHA:39041
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Recurrent skin infections ORPHA:79503
Candidiasis, Familial, 8
Blepharitis, Onychomycosis, Seborrheic dermatitis OMIM:615527
Leopard Syndrome 3
Dry skin, Hyperkeratosis, Epidermal hyperkeratosis, Curly hair, Low posterior hairline OMIM:613707
Hypotrichosis 7
Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse axillary hair, Sparse eyelashes... OMIM:604379
Immunodeficiency 15A
Acne inversa, Recurrent sinusitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Cut... OMIM:618204
Crandall Syndrome
Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair ORPHA:202
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia OMIM:613494
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:616099
Monilethrix
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... ORPHA:573
Immunodeficiency 66
Meningitis, Sepsis, Pustule, Recurrent skin infections OMIM:618847
Pseudopelade Of Brocq
Sparse scalp hair, Cheilitis, Alopecia, Aplasia/Hypoplasia of the eyebrow, Recurrent skin infecti... ORPHA:129
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... OMIM:613779
Odontoonychodermal Dysplasia
Nail dysplasia, Sparse scalp hair, Epidermal acanthosis, Orthokeratosis, Sparse eyebrow, Short na... OMIM:257980
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Nail dystrophy, Plantar hyperkeratosis, Pruritus, Alopecia OMIM:616487
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Blepharitis, Sparse eyelashes, Sparse body hair, Dry skin, Slow-growing hair OMIM:618535
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Leukonychia, Woolly hair, Fragile nails, Erythema, Hyperkeratosis, Nail dystrophy, Pruritus, Palm... OMIM:615821
Immunodeficiency 50
Eczema, Recurrent urinary tract infections, Recurrent respiratory infections OMIM:300988
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Pruritus ORPHA:280785
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Hypotrichosis 13
Abnormal sweat gland morphology, Woolly hair, Sparse hair, Sparse eyelashes OMIM:615896
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Hyperkeratosis, Erythema, Dry skin, Scaling skin OMIM:614457
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Recurrent upper respiratory tract infections, Nail dystrophy, Pneumonia OMIM:618806
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... ORPHA:275
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Recurrent... OMIM:605258
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Chronic sinusitis, Recurrent Haemophilus influenzae infections, Otitis media OMIM:300455
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Immune Deficiency Disease
Recurrent viral infections, Recurrent bacterial infections, Fulminant hepatitis, Cholangitis OMIM:242850
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin ORPHA:461
Trichodental Dysplasia
Fine hair, Sparse hair, Brittle hair, Slow-growing hair OMIM:601453
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Chronic oral candidiasis, Otitis media, Recurrent herpes, Hepatitis... ORPHA:169160
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Meningitis, Recurrent pneumonia, Recurrent otitis media, Recurren... OMIM:613500
Carvajal Syndrome
Woolly hair ORPHA:65282
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Amelo-Onycho-Hypohidrotic Syndrome
Hypoplastic toenails, Dry skin, Abnormal fingernail morphology, Hyperkeratosis, Fine hair, Onycho... ORPHA:1028
Vulvovaginal Gingival Syndrome
Epidermal acanthosis, Erythema, Ridged nail, Pruritus, Parakeratosis ORPHA:83453
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Sparse eyelashes, Patchy alopecia, Coarse hair, Scarring alopecia of scalp, Abnor... ORPHA:35173
Dermoodontodysplasia
Sparse scalp hair, Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Dry skin, Trichodys... ORPHA:1660
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Yellow nails, Onycholysis, Palmoplantar hyperkeratosis, Nail dystrophy, Pal... OMIM:148700
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Griscelli Syndrome, Type 2
Silver-gray hair, Recurrent bacterial infections, Melanin pigment aggregation in hair shafts OMIM:607624
Noonan Syndrome 8
Palmoplantar cutis laxa, Eczema, Hyperkeratosis, Curly hair OMIM:615355
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin ORPHA:2271
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Alopecia, Fragile nails, Erythroderma, Palmoplantar keratoderma, Conjunctivitis OMIM:242150
Rare Cutaneous Lupus Erythematosus
Discoid lupus rash, Cheilitis, Maculopapular exanthema, Neutrophilic infiltration of the skin, Le... ORPHA:535
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Palmoplantar keratoderma, Woolly hair OMIM:610476
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Alopecia universalis, Chronic oral candidiasis, Patchy alopecia, Psoriasiform dermatitis, Eczema,... OMIM:606367
Porokeratosis Of Mibelli
Hyperkeratosis, Pruritus ORPHA:735
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Recurrent bronchitis, Nephritis, Arthritis OMIM:216950
Neonatal Inflammatory Skin And Bowel Disease
Blepharitis, Recurrent bacterial skin infections, Pustule, Erythema, Horizontal eyebrow, Scaling ... ORPHA:294023
Phenylketonuria
Eczema, Fair hair, Dry skin OMIM:261600
Immunodeficiency 104
Otitis media, Eczema, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis, Pneu... OMIM:608971
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Sparse scalp hair, Absent hair, Absent eyebrow, Sparse eyebrow, Sparse eyelashes, Trichorrhexis n... ORPHA:1010
Grubben-De Cock-Borghgraef Syndrome
Eczema, Dry skin ORPHA:2101
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis, Hyperkeratosis, Anonychia, Nail dystrophy OMIM:616029
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis, Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hy... ORPHA:2199
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Leopard Syndrome 2
Curly hair, Dry skin OMIM:611554
Congenital Disorder Of Glycosylation, Type Iq
Hypertrichosis, Cutis laxa, Eczema, Dry skin, Hyperkeratosis OMIM:612379
Bleeding Disorder, Platelet-Type, 21
Recurrent viral infections, Eczema, Psoriasiform dermatitis, Alopecia OMIM:617443
Bjornstad Syndrome
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... OMIM:262000
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczema OMIM:300299
Prolidase Deficiency
Hirsutism, Generalized hirsutism, Low anterior hairline, Erythema, Dry skin, Abnormal fingernail ... ORPHA:742
Naxos Disease
Epidermal acanthosis, Woolly hair, Sparse eyebrow, Sparse body hair, Diffuse palmoplantar hyperke... OMIM:601214
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media, Conjunctivitis, Recu... OMIM:613493
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland... OMIM:614929
Non-Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Skin ulcer, Erythema, Pruritus ORPHA:2337
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... OMIM:608184
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Tiger tail banding OMIM:618546
Kid Syndrome
Keratitis, Sparse hair, Sparse eyebrow, Acne inversa, Punctate keratitis, Onychogryposis, Epiderm... ORPHA:477
Omenn Syndrome
Recurrent fungal infections, Alopecia, Recurrent bacterial infections, Pneumonia, Erythroderma, R... OMIM:603554
Bullous Impetigo
Recurrent bacterial skin infections, Sepsis, Pustule, Septic arthritis ORPHA:36237
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Sjögren-Larsson Syndrome
Dry skin, Hyperkeratosis, Erythema, Inflammatory abnormality of the eye ORPHA:816
Harlequin Ichthyosis
Erythroderma, Hyperkeratosis ORPHA:457
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on hand, Eczematoid dermatitis, Pruritus on foot, Palmoplantar erythema, Palmar pruritus... ORPHA:64745
Ectodermal Dysplasia-Skin Fragility Syndrome
Alopecia universalis, Cheilitis, Sparse hair, Recurrent skin infections, Follicular hyperkeratosi... ORPHA:158668
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow, Eczema, Trichorrhexis nodos... ORPHA:238468
Onychotrichodysplasia And Neutropenia
Short eyelashes, Trichorrhexis nodosa, Curly eyelashes, Sparse pubic hair, Concave nail, Curly ha... OMIM:258360
Psoriasis 14, Pustular
Epidermal acanthosis, Oligoarthritis, Parakeratosis, Pustule, Erythema, Nail dystrophy, Cholangit... OMIM:614204
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Psoriasiform lesion, Alopecia ORPHA:169154
Choroidal Atrophy-Alopecia Syndrome
Sparse hair, Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Fi... ORPHA:1433
Acrokeratosis Verruciformis Of Hopf
Epidermal acanthosis, Leukonychia, Anonychia, Hyperkeratosis, Punctate palmoplantar hyperkeratosi... ORPHA:79151
Drug Reaction With Eosinophilia And Systemic Symptoms
Pustule, Skin rash, Interstitial pneumonitis, Erythema, Myocarditis, Hepatitis, Tubulointerstitia... ORPHA:139402
Cutaneous Mastocytoma
Maculopapular exanthema, Erythema, Scaling skin, Pruritus ORPHA:79455
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair OMIM:615279
Immunodeficiency 58
Colitis, Eczema, Chronic otitis media, Allergic rhinitis, Psoriasiform lesion, Chronic mucocutane... OMIM:618131
Diffuse Cutaneous Mastocytosis
Erythroderma, Scaling skin, Pruritus ORPHA:79456
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Eczema, Dry skin OMIM:612947
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Sparse eyebrow, Sparse eyelashes, Alopecia, Dry skin, Hyper... OMIM:610768
Acral Self-Healing Collodion Baby
Lack of skin elasticity, Erythema, Palmoplantar scaling skin ORPHA:281127
Congenital Heart Defects And Ectodermal Dysplasia
Sparse scalp hair, Fragile nails, Dry skin OMIM:617364
Chilblain Lupus
Pruritis on hand, Discoid lupus rash, Inflammatory abnormality of the skin, Skin rash, Hyperkerat... ORPHA:90280
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Eczema, Atopic dermatiti... OMIM:243700
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent skin infections, Alopecia, Recurrent sinusitis, Recurrent pneumonia, Recurrent infectio... OMIM:616576
Infantile Digital Fibromatosis
Epidermal acanthosis, Hyperkeratosis, Parakeratosis ORPHA:199267
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Epididymitis, Recurrent upper and lower respiratory tract infections OMIM:608106
Ameloonychohypohidrotic Syndrome
Dry skin, Onycholysis, Seborrheic dermatitis OMIM:104570
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Trichothiodystrophy 6, Nonphotosensitive
Slow-growing hair, Dry skin, Brittle hair, Tiger tail banding OMIM:616943
Complement Factor I Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent skin infections, Recurrent urinary tract... OMIM:610984
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Colitis, Viral hepatitis, Recurrent fungal infections, Recurrent ... OMIM:209920
Noonan Syndrome 5
Sparse eyebrow, Dry skin, Fine hair, Curly hair, Small nail OMIM:611553
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Dry skin, Sparse eyebrow, Onychogryposis of toenails OMIM:600906
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eczema, Glomerulonephritis, Arthritis, Hepatitis, Erythroderma OMIM:304790
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Dwarfism, Familial, With Muscle Spasms
Sparse scalp hair, Fine hair, Brittle scalp hair OMIM:600771
Familial Melanoma
Abnormal hair morphology, Dry skin ORPHA:618
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Dry skin, Premature graying of hair, Low posterior hairline, Alopecia of ... ORPHA:2617
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Chronic sinusitis, Recurrent pneumonia, Rec... OMIM:612692
Thymic Aplasia
Recurrent candida infections, Sinusitis, Eczematoid dermatitis, Chronic oral candidiasis, Recurre... ORPHA:83471
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Perioral eczema, Recurrent sinusitis, Recurrent infections, Recurrent aphthous stomatitis OMIM:613960
Anhidrosis, Familial Generalized, With Abnormal Or Absent Sweat Glands
Palmoplantar hyperkeratosis, Dry skin, Aplasia of the sweat glands OMIM:206600
Porphyria Cutanea Tarda, Type I
Eczema, Hypertrichosis OMIM:176090
Rat-Bite Fever
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanthema, Lymphadenitis, Endocar... ORPHA:31205
Familial Hemophagocytic Lymphohistiocytosis
Colitis, Petechiae, Skin rash, Maculopapular exanthema, Purpura, Infectious encephalitis, Ecchymo... ORPHA:540
Cardiofaciocutaneous Syndrome 4
Sparse hair, Absent eyebrow, Sparse eyelashes, Palmoplantar hyperkeratosis, Curly hair, Alopecia ... OMIM:615280
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Uv-Sensitive Syndrome 1
Dry skin OMIM:600630
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Recu... ORPHA:183675
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic toenails, Fragile nails, Ridged fingernail, Abnormal fingernail morphology, Hypoplast... ORPHA:2228
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Palmar hyperkeratosis, Plantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Pruritus ORPHA:79399
Intellectual Developmental Disorder, Autosomal Dominant 34
Coarse hair, Curly hair, Synophrys OMIM:616351
Pachyonychia Congenita 2
Nail dysplasia, Sparse scalp hair, Folliculitis, Sparse eyebrow, Subungual hyperkeratosis, Dry ha... OMIM:167210
Inflammatory Skin And Bowel Disease, Neonatal, 2
Epidermal acanthosis, Long eyelashes, Recurrent pneumonia, Pustule OMIM:616069
Psoriasis 1, Susceptibility To
Arthritis, Onychomadesis, Nail pits, Onycholysis, Psoriasiform dermatitis OMIM:177900
Lichen Planus Pemphigoides
Blepharitis, Hyperkeratosis, Pruritus, Skin vesicle, Abnormality of the nail, Conjunctivitis ORPHA:254478
Zinc Deficiency, Transient Neonatal
Eczema, Alopecia OMIM:608118
Clouston Syndrome
Nail dysplasia, Blepharitis, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Absent pub... OMIM:129500
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Hepatitis, Hyperkeratosis, Pruritus, Skin ulcer, Onycho... ORPHA:525
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent fungal infections, Skin rash, Chronic mucocutaneous candidiasis,... OMIM:147060
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism, Acne OMIM:604931
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media OMIM:613502
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Perianal abscess OMIM:613148
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Complex Regional Pain Syndrome
Slow-growing nails, Erythema, Abnormality of hair growth, Dry skin ORPHA:83452
Autoinflammation With Arthritis And Dyskeratosis
Epidermal acanthosis, Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Uveitis, ... OMIM:617388
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Pili torti, Brittle hair, Hyperkeratosis, Fine hair ORPHA:1573
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin ORPHA:1184
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Pilodental Dysplasia With Refractive Errors
Sparse scalp hair, Brittle hair, Follicular hyperkeratosis, Brittle scalp hair, Abnormality of th... OMIM:262020
White Sponge Nevus 2
Epidermal acanthosis, Hyperparakeratosis OMIM:615785
Bazex Syndrome
Pili torti, Sparse hair, Eczema, Acne inversa, Atopic dermatitis, Coarse hair, Trichorrhexis nodo... OMIM:301845
Ichthyosis, Congenital, Autosomal Recessive 8
Epidermal acanthosis, Orthokeratosis, Erythema, Hyperkeratosis OMIM:613943
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Sparse scalp hair, Sparse hair, Absent eyebrow, Sparse eyelashes, Sparse body hair... OMIM:614941
Acrodermatitis Enteropathica
Blepharitis, Cheilitis, Abnormal eyebrow morphology, Pustule, Alopecia, Paronychia, Erythema, Dry... ORPHA:37
Basan Syndrome
Palmoplantar keratoderma, Nail dystrophy, Epidermal acanthosis OMIM:129200
Bone Marrow Failure Syndrome 4
Eczema, Dry skin OMIM:618116
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media, Recurrent protozoan infections, Sinusitis, Recurrent fungal infections, Recur... ORPHA:572
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Nail dysplasia, Thick eyebrow, Facial hirsutism, Curly eyelashes, Multiple rows of eyelashes, Cur... ORPHA:163654
Adiposis Dolorosa
Sparse axillary hair, Recurrent skin infections, Dry skin, Sparse pubic hair, Arthritis ORPHA:36397
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratitis, Blepharitis, Nail dysplasia, Folliculitis, Sparse eyebrow, Alopecia, Sparse eyelashes,... OMIM:612843
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Pili torti, Sparse hair, Sparse eyebrow, Coarse hair, Sparse or absent eyelash... ORPHA:113
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent bacterial skin infections, Colitis, Chronic oral ca... ORPHA:911
Rhizomelic Chondrodysplasia Punctata
Sparse body hair, Dry skin, Alopecia ORPHA:177
Naegeli-Franceschetti-Jadassohn Syndrome
Fragile nails, Subungual hyperkeratosis, Dry skin, Decreased number of sweat glands, Palmoplantar... ORPHA:69087
Ectodermal Dysplasia-Syndactyly Syndrome 1
Pili torti, Hypoplastic toenails, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Alopecia,... OMIM:613573
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... OMIM:307200
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... ORPHA:331235
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Recurrent sinusitis, Meningitis, Recurrent bronchitis, Recurrent ... OMIM:240500
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Ly... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Ly... OMIM:233710
Olmsted Syndrome 1
Nail dysplasia, Alopecia universalis, Sparse hair, Subungual hyperkeratosis, Pruritus, Nail dystr... OMIM:614594
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Recurrent sinusitis, Recurrent bronchitis, Recurrent pneumonia, P... OMIM:607594
Immunodeficiency 85 And Autoimmunity
Erythroderma, Eczema, Oligoarthritis OMIM:619510
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent nipple, Dry skin, Absent hair, Sparse hair OMIM:614940
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Recurrent skin infections, Recurrent upper respiratory tract infections, Atopic dermatitis, Recur... OMIM:618944
Noonan Syndrome 6
Curly hair, Sparse hair, Low posterior hairline, Long eyebrows OMIM:613224
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Hyperkeratosis Lenticularis Perstans
Skin ulcer, Pruritus, Hyperkeratosis lenticularis perstans ORPHA:409
Elastoderma
Eczema, Erysipelas, Cutis laxa, Premature skin wrinkling ORPHA:228240
Riddle Syndrome
Dry skin OMIM:611943
Wiskott-Aldrich Syndrome 2
Eczema, Recurrent infections OMIM:614493
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Sparse eyebrow, Alopecia, Dystrophic toenail, Fine hair, Dystrophic fingernails ORPHA:1882
Whim Syndrome 1
Bronchiectasis, Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... OMIM:300635
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Palmar hyperkeratosis, Short eyelashes, Sparse body hair, Dry ... OMIM:150400
Adult Syndrome
Absent nipple, Sparse scalp hair, Toenail dysplasia, Alopecia, Fingernail dysplasia, Dry skin, Hy... ORPHA:978
Noonan Syndrome 9
Curly hair, Sparse eyebrow OMIM:616559
Immunodeficiency 25
Erythroderma, Recurrent pneumonia OMIM:610163
Distal Trisomy 6P
Dry skin, Fine hair, Abnormal eyelash morphology, Abnormal hair quantity ORPHA:1745
Oral Erosive Lichen
Cheilitis, Erythema, Dry skin ORPHA:31142
Graft Versus Host Disease
Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic hepatitis, Myositis, Arthr... ORPHA:39812
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Ly... OMIM:233690
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Hirsutism, Abnormal hair whorl, Dry skin, Synophrys, Nail dystrophy, Low posterior hairline OMIM:300860
Popov-Chang syndrome
Coarse hair, Hyperkeratosis, Dry skin, Recurrent otitis media OMIM:618428
Adult Syndrome
Absent nipple, Sparse scalp hair, Fair hair, Sparse axillary hair, Eczema, Dry skin, Hypoplastic ... OMIM:103285
Trichothiodystrophy 8, Nonphotosensitive
Woolly hair, Sparse hair, Sparse eyebrow, Cutis laxa, Eczema, Trichorrhexis nodosa OMIM:619691
Huriez Syndrome
Epidermal acanthosis, Congenital palmoplantar hyperkeratosis, Nail dystrophy, Small nail OMIM:181600
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dysplasia, Progressive hypotrichosis, Abnormality of hair texture, Sparse eyebrow, Sparse ey... OMIM:225060
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Chronic oral candidiasis, Recurrent cutaneous fungal infecti... ORPHA:276
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Hypertrichosis, Viral hepatitis, Hirsutism, Chronic hepatiti... ORPHA:101330
Psoriasis-Related Juvenile Idiopathic Arthritis
Iridocyclitis, Oligoarthritis, Skin rash, Iritis, Anterior uveitis, Uveitis, Psoriasiform lesion,... ORPHA:85436
Trichothiodystrophy
Sparse scalp hair, Split nail, Brittle hair, Tiger tail banding, Fragile nails, Eczema, Congenita... ORPHA:33364
Ichthyosis, Congenital, Autosomal Recessive 2
Epidermal acanthosis, Alopecia, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Abnormal hair... OMIM:242100
Palmoplantar Keratoderma, Punctate Type Ia
Epidermal acanthosis, Orthokeratosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis ORPHA:486815
Bacterial Toxic-Shock Syndrome
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis, Myositis, Myocarditi... ORPHA:36234
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse hair, Patchy alopecia, Sparse eyebrow, Sparse eyelashes, Erythroderma OMIM:302960
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding OMIM:616390
Epidermodysplasia Verruciformis
Seborrheic dermatitis, Pustule, Recurrent skin infections ORPHA:302
Mpdu1-Cdg
Eczema, Scaling skin ORPHA:79323
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Noonan Syndrome 14
Sparse hair, Sparse eyebrow, Dry skin, Curly hair, Low posterior hairline OMIM:619745
Adult Idiopathic Neutropenia
Recurrent fungal infections, Recurrent bacterial infections, Helicobacter pylori infection, Recur... ORPHA:2688
Idiopathic Trachyonychia
Nail pits, Toenail dysplasia, Patchy alopecia, Abnormality of the periungual region, Fragile nail... ORPHA:79153
Xeroderma Pigmentosum Variant
Keratitis, Dry skin ORPHA:90342
Braddock-Carey Syndrome 1
Curly hair, Sparse hair OMIM:619980
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Epidermal acanthosis, Hyperkeratosis, Dry skin, Parakeratosis OMIM:618527
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Lymphadenitis, Inflammation of the large intestine, Nail dystrophy, Erythroderma OMIM:615895
Psoriasis 15, Pustular, Susceptibility To
Nail dystrophy, Psoriasiform dermatitis OMIM:616106
Hawkinsinuria
Fine hair, Sparse hair ORPHA:2118
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Atopic dermatit... ORPHA:217390
Trichohepatoneurodevelopmental Syndrome
Hypertrichosis, Woolly hair, Otitis media, Coarse hair, Hypoplastic nipples, Synophrys, Pruritus,... OMIM:618268
Spinocerebellar Ataxia Type 34
Dry skin ORPHA:1955
Jung Syndrome
Dry skin, Low posterior hairline ORPHA:2321
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Osteomyelitis, Anterior cervical hypertrichosis OMIM:239840
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thick eyebrow, Curly hair, Highly arched eyebrow, Low posterior hairline, Redundant neck skin OMIM:617360
Specific Granule Deficiency 2
Nail dysplasia, Hirsutism, Fragile nails, Recurrent bacterial infections, Sepsis, Recurrent pneum... OMIM:617475
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Folliculitis, Pancolitis, Recurrent bronchitis, Perianal abscess OMIM:612567
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Hirsutism, Low anterior hairline, Woolly hair, Broad eyebrow, Dry skin, Highly arched eyebrow OMIM:619244
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Absent eyebrow, E... OMIM:305100
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Osteomyelitis, Recurrent bacterial infections, Recurrent staphylococcal infections... OMIM:116920
Uremic Pruritus
Inflammatory abnormality of the skin, Dry skin, Pruritus, Recurrent skin infections ORPHA:94059
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Palmoplantar keratoderma, Plantar hyperkeratosis, Epidermal acanthosis OMIM:615735
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Hyperkeratosis, Sparse hair, Brittle hair ORPHA:1883
Glycosylphosphatidylinositol Biosynthesis Defect 25
Coarse hair, Sparse hair OMIM:619985
Keratolytic Winter Erythema
Erythema, Pustule ORPHA:50943
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypertrichosis, Dry skin, Onychauxis OMIM:262190
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Aplasia of the eccrine sweat glands, Recurrent bacterial infections, Severe cytomega... OMIM:300291
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
19Q13.11 Microdeletion Syndrome
Nail dysplasia, Sparse hair, Supernumerary nipple, Sparse or absent eyelashes, Dry skin, Fine hai... ORPHA:217346
Cardiofaciocutaneous Syndrome 1
Sparse hair, Absent eyebrow, Atopic dermatitis, Hyperkeratosis, Absent eyelashes, Slow-growing ha... OMIM:115150
Immunodeficiency, Common Variable, 8, With Autoimmunity
Colitis, Conjunctivitis, Atrophic gastritis, Inflammation of the large intestine, Arthritis, Recu... OMIM:614700
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin OMIM:614450
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections ORPHA:169079
Tangier Disease
Nail dysplasia, Dry skin, Nail dystrophy OMIM:205400
Palmoplantar Carcinoma, Multiple Self-Healing
Epidermal acanthosis, Follicular hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma, Parake... OMIM:615225
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Recurrent infection of the gastrointestinal tract, Recurrent sinopulmonary infecti... ORPHA:486
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Dry skin, Sparse hair OMIM:268020
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Sparse scalp hair, Sparse hair, Eczema, Loose anagen hair, Long eyelashes, Hyperkeratosis, Curly ... OMIM:607721
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Sepsis, Recurrent bacterial infe... ORPHA:169090
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Acne inversa, Hyperkeratosis, Nail dystrophy, Hypoplastic sweat glands OMIM:617337
Smith-Kingsmore Syndrome
Curly hair OMIM:616638
Noonan Syndrome 7
Curly hair, Low posterior hairline OMIM:613706
Thyroid Dyshormonogenesis 1
Dry skin OMIM:274400
Amaurosis-Hypertrichosis Syndrome
Coarse hair, Abnormal eyelash morphology, Thick eyebrow, Synophrys ORPHA:1021
Ige Responsiveness, Atopic
Allergic rhinitis, Eczema OMIM:147050
Radio-Tartaglia Syndrome
Hirsutism, Low anterior hairline, Thick eyebrow, Dry skin, Long eyelashes, Striae distensae, Syno... OMIM:619312
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Epidermal acanthosis, Orthokeratosis, Palmoplantar hyperkeratosis ORPHA:38
Arthrogryposis And Ectodermal Dysplasia
Nail dysplasia, Absent eyebrow, Trichiasis, Dry skin, Hyperkeratosis, Trichodysplasia OMIM:601701
Atopic Keratoconjunctivitis
Keratitis, Blepharitis, Dry skin, Loss of eyelashes, Keratoconjunctivitis sicca ORPHA:163934
Noonan Syndrome 10
Palmoplantar cutis laxa, Hyperkeratosis, Curly hair, Sparse eyebrow OMIM:616564
Noonan Syndrome 2
Sparse eyebrow, Palmoplantar cutis laxa, Hyperkeratosis, Curly hair, Low posterior hairline OMIM:605275
Iga Pemphigus
Pustule, Acantholysis, Pruritus, Ulcerative colitis, Skin vesicle, Cutaneous abscess, Neutrophili... ORPHA:555905
Cardiofaciocutaneous Syndrome
Sparse hair, Brittle hair, Aplasia/Hypoplasia of the eyebrow, Excessive wrinkled skin, Redundant ... ORPHA:1340
Chops Syndrome
Thick eyebrow, Aspiration pneumonia, Coarse hair, Long eyelashes, Synophrys, Thick hair, Curly hair OMIM:616368
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin ORPHA:1035
Noonan Syndrome 13
Generalized hirsutism, Hypertrichosis, Broad eyebrow, Dry skin, Recurrent otitis media, Highly ar... OMIM:619087
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Pancreatitis, Colitis, Pallor, Eczema, Chronic hepatitis, A... ORPHA:3260
Familial Benign Chronic Pemphigus
Skin vesicle, Acantholysis, Hyperkeratosis, Erythema ORPHA:2841
Bachmann-Bupp Syndrome
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Dry skin, Small nail OMIM:619075
Dyskeratosis Congenita, Autosomal Dominant 3
Nail dysplasia, Alopecia, Dry skin, Fine hair, Premature graying of hair OMIM:613990
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Palmoplantar keratoderma, Woolly hair OMIM:611528
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Recurrent bacterial infections, Recurrent respiratory infections OMIM:613496
Juvenile Dermatomyositis
Skin rash, Alopecia, Erythema, Myositis, Dry skin, Arthritis, Pruritus, Skin ulcer, Pericarditis ORPHA:93672
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Inflammatory abnormality of the skin, Recurrent upper respiratory tract infections, Re... ORPHA:277
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Eczematoid dermatitis, Redundant skin, Erythema, Arthritis, Palmoplantar hyperkeratosis, Seborrhe... OMIM:259100
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Noonan Syndrome 4
High anterior hairline, Curly hair, Sparse eyebrow OMIM:610733
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Dry skin ORPHA:3085
Peroxisome Biogenesis Disorder 14B
Dry skin OMIM:614920
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Erythema, Pruritus OMIM:254400
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Agel Amyloidosis
Sparse hair, Cutis laxa, Dry skin, Pruritus, Nail dystrophy, Keratoconjunctivitis sicca ORPHA:85448
Myxedema
Dry skin OMIM:255900
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Low anterior hairline, Thick eyebrow, Dry skin, Horizontal eyebrow, High anterior hairline OMIM:618797
Acrogeria
Excessive wrinkled skin, Skin ulcer, Fine hair ORPHA:2500
Incontinentia Pigmenti
Keratitis, Nail dysplasia, Sparse hair, Supernumerary nipple, Alopecia, Pallor, Maculopapular exa... OMIM:308300
Trichothiodystrophy 4, Nonphotosensitive
Nail dysplasia, Abnormality of hair texture, Woolly hair, Sparse hair, Brittle hair, Sparse eyela... OMIM:234050
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Dry skin OMIM:618156
Oculodentodigital Dysplasia
Sparse hair, Brittle hair, Abnormal fingernail morphology, Fine hair, Slow-growing hair, Palmopla... ORPHA:2710
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair ORPHA:457485
Papillon-Lefèvre Syndrome
Periodontitis, Chronic furunculosis, Hypertrichosis, Pustule, Generalized hirsutism, Recurrent sk... ORPHA:678
Immunodeficiency 10
Nail dysplasia, Recurrent bacterial infections, Recurrent infections OMIM:612783
Chand Syndrome
Nail dysplasia, Curly hair, Dry skin ORPHA:1401
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Progeroid Syndrome, Petty Type
Generalized hirsutism, Thick eyebrow, Sparse hair, Brittle hair, Cutis laxa, Redundant skin, Long... ORPHA:2963
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perioral erythema, Paronychia, Dry skin, Perianal erythema, Alopecia of scalp OMIM:201100
Congenital Disorder Of Glycosylation, Type Iil
Hyperkeratosis, Dry skin, Inflammation of the large intestine OMIM:614576
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Abnormal fingernail morphology, Hyperkeratosis, Fine hair, Skin ulcer, Keratoconjunc... ORPHA:1806
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma OMIM:617425
Bullous Pemphigoid
Eczema, Recurrent infections, Psoriasiform dermatitis ORPHA:703
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukonychia, Melanonychia, Erysipelas, Dry skin, Abnormal eyelash morphology, Scaling skin, Abnor... ORPHA:2526
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Inflammatory abnormality of the skin, Erythema, Pruritus ORPHA:79099
Myoectodermal Gonadal Dysgenesis Syndrome
Sparse eyebrow, Frontal upsweep of hair, Sparse pubic hair, Dry skin, Scaling skin, Absent axilla... OMIM:618419
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Dry skin ORPHA:95715
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Recurrent bacterial infections, Neutrophilic infiltration of the skin... OMIM:618048
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis, Recurrent skin infections OMIM:612840
Cranioectodermal Dysplasia 3
Sparse hair, Cutis laxa, Short nail, Dry skin, Fine hair, Broad nail OMIM:614099
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Sparse hair, Coarse hair, Highly arched eyebrow, Slow-growing hair, Dermal translucency, High ant... OMIM:617506
Proteus Syndrome
Epidermal acanthosis, Hyperkeratosis OMIM:176920
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar keratoderma, Woolly hair OMIM:605676
Eec Syndrome
Keratitis, Blepharitis, Thick eyebrow, Sparse eyebrow, Coarse hair, Dry skin, Hyperkeratosis, Fin... ORPHA:1896
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media,... OMIM:601495
Hereditary Mucoepithelial Dysplasia
Fine hair, Hyperkeratosis, Sparse hair, Alopecia ORPHA:1839
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis, Pruritus OMIM:618084
Immunodeficiency 55
Eczema, Dry skin, Recurrent skin infections OMIM:617827
9P13 Microdeletion Syndrome
Hypoplastic toenails, Thick eyebrow, Hyperconvex nail, Dry skin, Recurrent otitis media, Highly a... ORPHA:324313
Ddost-Cdg
Dry skin ORPHA:300536
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Sepsis, Chronic otitis media, Art... ORPHA:33110
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Seborrheic dermatitis, Acne OMIM:614441
Weaver Syndrome
Hypoplastic toenails, Redundant skin, Deep-set nails, Abnormal fingernail morphology, Fine hair, ... ORPHA:3447
Cataract, Aberrant Oral Frenula, And Growth Retardation
Curly hair OMIM:115645
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Autosomal Dominant Hypocalcemia
Alopecia, Eczema, Dry skin, Abnormal fingernail morphology, Abnormality of the nail ORPHA:428
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Ly... OMIM:306400
Trichohepatoenteric Syndrome 2
Woolly hair, Sparse hair, Brittle hair, Trichorrhexis nodosa, Uncombable hair OMIM:614602
Trichohepatoenteric Syndrome 1
Woolly hair, Sparse hair, Brittle hair, Trichorrhexis nodosa, Fine hair, Curly hair OMIM:222470
Biotinidase Deficiency
Skin rash, Alopecia, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis OMIM:253260
Chromosome 19Q13.11 Deletion Syndrome, Distal
Nail dysplasia, Sparse hair, Sparse eyebrow, Sparse eyelashes, Dry skin OMIM:613026
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Supernumerary nipple, Aplasia/Hypoplasia of the eyebrow, Dry skin, Fine hair, Aplastic/hypoplasti... ORPHA:1812
Darier-White Disease
Acantholysis, Ridged nail, Pruritus, Subungual hyperkeratotic fragments OMIM:124200
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172