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:
1110036I10Rik,  VRL3,  Nh

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
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
Olmsted Syndrome 1
Pruritus, Sparse hair, Palmoplantar keratoderma, Subungual hyperkeratosis, Nail dysplasia, Alopec... OMIM:614594
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Palmoplantar keratoderma, Erythema, Alopecia, Skin ulcer, Abnormal fingernail morpho... 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
Pili canaliculi, Curly hair, Uncombable hair OMIM:617252
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Acne Inversa, Familial, 3
Recurrent cutaneous abscess formation, Chronic furunculosis, Acne inversa, Perifolliculitis OMIM:613737
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent Klebsiella infections, Recurr... OMIM:614372
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Immunodeficiency 51
Folliculitis, Pustule, Cutaneous abscess, Recurrent bronchitis, Chronic oral candidiasis, Recurre... OMIM:613953
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis, Scaling skin, Erythema OMIM:617571
Epidermolytic Hyperkeratosis
Erythroderma, Scaling skin, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:113800
Ichthyosis With Confetti
Hyperkeratosis, Erythroderma, Hypertrichosis, Palmoplantar hyperkeratosis OMIM:609165
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scali... ORPHA:530838
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Perifolliculitis, Alopecia OMIM:260910
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Kerion Celsi
Recurrent skin infections, Recurrent cutaneous abscess formation, Alopecia, Inflammatory abnormal... ORPHA:499
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Epidermal acanthosis OMIM:133200
Agammaglobulinemia 2, Autosomal Recessive
Meningitis, Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia OMIM:613500
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Hypotrichosis 7
Woolly hair, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes OMIM:604379
Familial Reactive Perforating Collagenosis
Pruritus, Hyperkeratotic papule, Perifolliculitis, Maculopapular exanthema, Crusting erythematous... ORPHA:79147
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Peeling Skin Syndrome 1
Pruritus, Onycholysis, Scaling skin, Erythema, Brittle hair, Abnormality of hair texture OMIM:270300
Witkop Syndrome
Nail pits, Small nail, Sparse hair, Ridged nail, Concave nail, Fine hair OMIM:189500
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Cutis laxa, ... ORPHA:2269
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Erythroderma, Nail dysplasia, Alopecia, Parakeratosis, Epidermal acanthosis, Nail dy... OMIM:242300
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Bathing Suit Ichthyosis
Sparse hair, Erythroderma, Scaling skin, Alopecia, Parakeratosis, Epidermal acanthosis, Nail dyst... ORPHA:100976
Psoriasis 2
Hyperkeratosis, Scaling skin, Epidermal acanthosis, Parakeratosis, Psoriasiform dermatitis OMIM:602723
Transgrediens Et Progrediens Palmoplantar Keratoderma
Generalized hyperkeratosis, Thin fingernail, Palmoplantar keratoderma, Erythema, Alopecia, Dry skin ORPHA:495
Palmoplantar Keratoderma And Congenital Alopecia 2
Facial erythema, Hyperkeratosis, Nail dysplasia, Alopecia totalis, Dry skin, Nail dystrophy, Palm... OMIM:212360
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma, Epidermal acanthosis, Palmoplantar keratoderma OMIM:615022
Ichthyosis Vulgaris
Eczematoid dermatitis, Absent keratohyalin granules, Dry skin OMIM:146700
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections, Abnormal hair morphology ORPHA:345
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Oculotrichodysplasia
Trichodysplasia, Generalized hypotrichosis, Scaling skin, Sparse axillary hair, Sparse scalp hair... OMIM:257960
Pityriasis Rubra Pilaris
Pruritus, Pustule, Abnormality of the nail, Palmoplantar keratoderma, Erythroderma, Subungual hyp... ORPHA:2897
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Ichthyosis, Hystrix-Like, With Deafness
Absent eyelashes, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Scarring alopecia of sc... OMIM:602540
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Onycholysis, Palmoplantar keratoderma, Hyperkeratosis, Leukonychia, Scaling skin, Angular cheilit... OMIM:616295
Lamellar Ichthyosis
Pruritus, Abnormality of the nail, Sparse hair, Hyperkeratosis, Erythroderma, Chronic otitis medi... ORPHA:313
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac... ORPHA:70592
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal hair morphology, Coarse hair, Slow-growing hair, Woolly hair OMIM:194300
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent abscess format... OMIM:613860
Hypotrichosis 6
Pruritus, Sparse hair, Erythema, Follicular hyperkeratosis, Sparse and thin eyebrow, Brittle hair... OMIM:607903
Ichthyosis, Congenital, Autosomal Recessive 6
Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Epidermal acanthosis, Parakeratosis OMIM:612281
Uncombable Hair Syndrome 1
Pili canaliculi, Uncombable hair, Dry hair OMIM:191480
Autosomal Dominant Epidermolytic Ichthyosis
Hyperkeratosis, Erythroderma, Skin ulcer, Palmoplantar keratoderma ORPHA:312
Amyloidosis, Primary Localized Cutaneous, 3
Pruritus, Dry skin OMIM:617920
Acquired Ichthyosis
Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Recurrent skin infections, Dry skin ORPHA:454
Peeling Skin Syndrome 4
Palmoplantar keratoderma, Hyperkeratosis, Scaling skin, Epidermal acanthosis, Orthokeratosis, Nai... OMIM:607936
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Bazex Syndrome
Pruritus, Yellow nails, Palmoplantar keratoderma, Hyperkeratosis, Scaling skin, Parakeratosis, Na... ORPHA:166113
Classic Mycosis Fungoides
Skin rash, Pruritus, Abnormality of the nail, Hyperkeratosis, Erythema, Alopecia, Eczema, Skin ul... ORPHA:2584
Candidiasis, Familial, 1
Recurrent viral infections, Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair, Dry skin OMIM:617073
Acrokeratosis Verruciformis
Hyperkeratosis, Ridged nail, Epidermal acanthosis OMIM:101900
Ichthyosis, Congenital, Autosomal Recessive 5
Palmoplantar keratoderma, Erythroderma, Epidermal acanthosis, Parakeratosis, Orthokeratosis OMIM:604777
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Erythroderma, Scaling skin, Dry skin OMIM:609180
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair, Acantholysis, Palmoplantar keratoderma, Erythroderma, Recurrent skin infections, Pso... OMIM:615508
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Pili Torti-Onychodysplasia Syndrome
Trichodysplasia, Absent eyelashes, Palmoplantar keratoderma, Congenital onychodystrophy, Absent e... ORPHA:2890
Chronic Actinic Dermatitis
Pruritus, Allergic rhinitis, Erythroderma, Epidermal acanthosis, Eczema, Late onset atopic dermat... ORPHA:330064
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Abnormality of the nail, Facial erythema, Palmoplantar keratoderma, Scarring alopec... OMIM:308800
Dermatitis, Atopic
Pruritus, Atopic dermatitis, Allergic rhinitis, Facial erythema, Conjunctivitis, Eczema, Recurren... OMIM:603165
Congenital Non-Bullous Ichthyosiform Erythroderma
Pruritus, Abnormality of the nail, Palmoplantar keratoderma, Erythroderma, Keratitis, Alopecia ORPHA:79394
Trichodysplasia-Xeroderma
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Ulerythema Ophryogenesis
Abnormal eyebrow morphology, Erythema, Follicular hyperkeratosis, Alopecia, Inflammatory abnormal... ORPHA:3406
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Sparse axillary hair, Sparse scalp hair, Sparse pubic hair, Alopecia, Perifollicular hy... ORPHA:505
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Monilethrix
Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy OMIM:158000
Quinquaud Folliculitis Decalvans
Pustule, Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia, Recurrent skin in... ORPHA:346
Erythrokeratodermia Variabilis
Skin rash, Abnormality of the nail, Patchy palmoplantar hyperkeratosis, Abnormal hair morphology,... ORPHA:317
Marie Unna Hereditary Hypotrichosis
Coarse hair, Sparse scalp hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of the e... ORPHA:444
Amyloidosis, Primary Localized Cutaneous, 1
Pruritus, Cutis laxa, Scaling skin, Dry skin OMIM:105250
Sézary Syndrome
Pruritus, Palmoplantar keratoderma, Erythroderma, Alopecia, Nail dystrophy, Dry skin ORPHA:3162
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Bronchiectasis, Recurrent bacterial... OMIM:608957
Ectodermal Dysplasia/Skin Fragility Syndrome
Dystrophic fingernails, Scaling skin, Sparse hair, Palmoplantar hyperkeratosis OMIM:604536
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Olmsted Syndrome 2
Pruritus, Sparse hair, Palmoplantar keratoderma, Hyperkeratosis, Cheilitis, Alopecia universalis,... OMIM:619208
Hypotrichosis 1
Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey... OMIM:605389
Cole Disease
Hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma OMIM:615522
Immunodeficiency 35
Recurrent viral infections, Recurrent respiratory infections, Recurrent mycobacterial infections,... OMIM:611521
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis, Palmoplantar keratoderma OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis, Palmoplantar keratoderma OMIM:615735
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse hair, Hyperkeratosis, Curly hair, Sparse and thin eyebrow, Brittle hair, Blepharitis, Pili... OMIM:602400
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma, Palmoplantar keratoderma OMIM:615024
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Recurrent respiratory infections, Recurrent bacteri... OMIM:613501
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent otitis media, Conjunctivitis, Recurrent pneumo... OMIM:612692
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Dry skin, Alopecia, Abnormal toenail morphology, Fine hair, Abnormal fi... ORPHA:248
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Recurrent bacterial infections, Frequent Giardia lam... OMIM:300310
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Absent eyebrow, Brittle hair, Alopecia, Congenital onychodystrophy... OMIM:602032
Trichothiodystrophy 3, Photosensitive
Erythroderma, Brittle hair, Tiger tail banding OMIM:616395
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent fungal infections, Recurrent viral infections, Recurrent sinopulmona... OMIM:243700
Dermoodontodysplasia
Trichodysplasia, Nail dysplasia, Dry skin OMIM:125640
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Coarse hair, Sparse and thin eyebrow, Brittle hair, Sparse eyelashes OMIM:234030
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis OMIM:617115
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Sparse and thin eyebrow, Sparse body hair, Woolly hair, Woolly sc... OMIM:616099
Pili Torti
Abnormal eyebrow morphology, Abnormality of the nail, Brittle hair, Alopecia, Abnormality of hair... ORPHA:2889
Netherton Syndrome
Skin rash, Abnormal hair morphology, Erythroderma, Sparse scalp hair, Dry skin, Sparse and thin e... ORPHA:634
Complement Component 5 Deficiency
Generalized seborrheic dermatitis, Recurrent meningococcal disease OMIM:609536
Centrifugal Lipodystrophy
Lymphadenitis, Scaling skin, Erythema, Alopecia, Inflammatory abnormality of the skin ORPHA:90156
Idiopathic Localized Lipodystrophy
Pruritus, Inflammatory abnormality of the skin, Scaling skin, Erythema ORPHA:90158
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Psoriasiform lesion, Pruritus, Pustule, Superficial dermal perivascular inflammatory infiltrate, ... ORPHA:284426
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:617526
Complement Factor B Deficiency
Peritonitis, Pneumonia, Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Alopecia Areata 2
Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:610753
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Perioral erythema, Erythroderma, Paronychia, Perianal erythema, Blepharitis, Onychogryposis OMIM:614328
Netherton Syndrome
Brittle scalp hair, Allergic rhinitis, Erythroderma, Sparse scalp hair, Sparse and thin eyebrow, ... OMIM:256500
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis OMIM:615598
Acral Peeling Skin Syndrome
Eczema, Excessive wrinkling of palmar skin, Scaling skin, Erythema ORPHA:263534
Huriez Syndrome
Abnormality of the nail, Small nail, Palmoplantar keratoderma, Lack of skin elasticity, Dry skin ORPHA:384
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Dry skin ORPHA:1954
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Hypotrichosis 12
Sparse hair, Dry hair, Slow-growing hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the e... OMIM:615885
Elastosis Perforans Serpiginosa
Crusting erythematous dermatitis, Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa ORPHA:79148
Erosive Pustular Dermatosis Of The Scalp
Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythema ORPHA:222
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory infections,... OMIM:613502
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, BCGosis, Severe toxoplasmosis, Lymphadenitis, Histoplas... ORPHA:319552
Verrucous Hemangioma
Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin ORPHA:464318
Trichothiodystrophy 1, Photosensitive
Small nail, Sparse hair, Hyperkeratosis, Erythroderma, Tiger tail banding, Dry skin, Keratoconjun... OMIM:601675
Sabinas Brittle Hair Syndrome
Sparse hair, Dry hair, Nail dysplasia, Brittle hair, Nail dystrophy OMIM:211390
Erythrokeratodermia Variabilis Et Progressiva 3
Hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Erythema OMIM:617525
Ectodermal Dysplasia 7, Hair/Nail Type
Onycholysis, Sparse hair, Sparse and thin eyebrow, Brittle hair, Alopecia, Dystrophic toenail, Dy... OMIM:614929
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse hair, Slow-growing hair, Nail dysplasia, Dry skin, Sparse and thin eyebrow, Fine hair, Spa... OMIM:129490
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Recurrent cutaneous fungal infections, Palmoplantar keratoderma OMIM:244850
Cardiofaciocutaneous Syndrome 2
Fine hair, Curly hair, Sparse hair, Absent eyebrow OMIM:615278
Pili Torti, Early-Onset
Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei... OMIM:261900
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Olmsted Syndrome, X-Linked
Posterior blepharitis, Palmoplantar keratoderma, Hyperkeratosis, Subungual hyperkeratosis, Alopec... OMIM:300918
Hypotrichosis 5
Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes OMIM:612841
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Naxos Disease
Sparse scalp hair, Curly hair, Woolly hair, Abnormality of hair texture ORPHA:34217
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:614868
Ameloonychohypohidrotic Syndrome
Seborrheic dermatitis, Onycholysis, Abnormal hair morphology, Dry skin OMIM:104570
Corneodermatoosseous Syndrome
Erythroderma, Onycholysis, Palmoplantar hyperkeratosis OMIM:122440
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Pruritus, Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Recurrent infections, Chroni... OMIM:618282
Aicardi-Goutieres Syndrome 5
Chilblains, Scaling skin, Dry skin OMIM:612952
Palmoplantar Keratoderma And Congenital Alopecia 1
Sparse eyebrow, Sparse hair, Palmoplantar keratoderma, Leukonychia, Epidermal hyperkeratosis, Pal... OMIM:104100
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Chronic furunculosis, Acne inversa, Perifolliculitis OMIM:613736
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Onychogryposis of toenails, Sparse hair, Dry hair OMIM:164680
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse hair, Leukonychia, Angular cheilitis, Sparse axillary hair, Sparse scalp h... OMIM:613102
Anonychia With Flexural Pigmentation
Anonychia, Dry skin OMIM:106750
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus, Nail dystrophy OMIM:131850
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Sparse hair, Thick hair, Cholangitis, Dry skin, Alopecia, Parakeratosis, Epidermal acanthosis, Or... OMIM:607626
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Odontoonychodermal Dysplasia
Dry hair, Sparse body hair, Sparse hair, Anonychia, Erythema, Sparse scalp hair, Nail dysplasia, ... OMIM:257980
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Alopecia-Mental Retardation Syndrome 4
Erythroderma, Alopecia OMIM:618840
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyelashes, Erythroderma, Scaling skin, Absent eyebrow, Nail dysplasia, Follicular hyperker... OMIM:308205
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Nail dystrophy, Recurrent skin infections, Diffuse palmoplantar hyperkeratosis ORPHA:79503
Immunodeficiency 15A
Cutaneous abscess, Recurrent otitis media, Recurrent sinusitis, Chronic mucocutaneous candidiasis... OMIM:618204
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Pruritus OMIM:146750
Candidiasis, Familial, 8
Seborrheic dermatitis, Onychomycosis, Blepharitis OMIM:615527
Leopard Syndrome 3
Hyperkeratosis, Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Dry skin OMIM:613707
Omenn Syndrome
Pruritus, Erythroderma, Thyroiditis, Pneumonia, Alopecia, Aplasia/Hypoplasia of the eyebrow, Dry ... ORPHA:39041
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Recurrent infections, Recurrent respiratory infections OMIM:617744
Crandall Syndrome
Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair, Pili torti ORPHA:202
Immunodeficiency 55
Eczema, Recurrent skin infections, Dry skin OMIM:617827
Monilethrix
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... ORPHA:573
Pseudopelade Of Brocq
Abnormality of the nail, Abnormal hair morphology, Cheilitis, Sparse scalp hair, Alopecia, Aplasi... ORPHA:129
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Leukonychia, Erythema, Parakeratosis, Woolly ... OMIM:615821
Basan Syndrome
Hyperkeratosis, Epidermal acanthosis OMIM:129200
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Immunodeficiency 66
Meningitis, Pustule, Sepsis, Recurrent skin infections OMIM:618847
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse eyelashes, Slow-growing hair, Sparse body hair, Blepharitis, Dry skin OMIM:618535
Immunodeficiency 50
Eczema, Recurrent urinary tract infections, Recurrent respiratory infections OMIM:300988
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia OMIM:613494
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:280785
Specific Granule Deficiency 2
Recurrent otitis media, Hirsutism, Nail dysplasia, Recurrent pneumonia, Fragile nails, Recurrent ... OMIM:617475
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Copper Deficiency, Familial Benign
Curly hair, Early balding, Seborrheic dermatitis OMIM:121270
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Yellow nails, Onycholysis, Palmoplantar keratoderma, Epidermal aca... OMIM:148700
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, Nail dystrophy, Recurrent upper respiratory tract infections OMIM:618806
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Skin rash, Chronic oral candidiasis, Recurrent gastroenteriti... ORPHA:275
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin ORPHA:461
Vulvovaginal Gingival Syndrome
Pruritus, Ridged nail, Erythema, Epidermal acanthosis, Parakeratosis ORPHA:83453
Immunodeficiency 27B
Salmonella osteomyelitis, Recurrent mycobacterial infections, Osteomyelitis OMIM:615978
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Otitis media, Chronic sinusitis OMIM:300455
Trichodental Dysplasia
Fine hair, Brittle hair, Sparse hair, Slow-growing hair OMIM:601453
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... ORPHA:169160
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Atopic dermatitis, Palmar pruritus, Palmoplantar keratoderma, Exce... ORPHA:498359
Dermoodontodysplasia
Trichodysplasia, Fingernail dysplasia, Sparse scalp hair, Toenail dysplasia, Sparse body hair, Dr... ORPHA:1660
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Amelo-Onycho-Hypohidrotic Syndrome
Hypoplastic toenails, Onycholysis, Hyperkeratosis, Dry skin, Fine hair, Abnormal fingernail morph... ORPHA:1028
Immune Deficiency Disease
Cholangitis, Fulminant hepatitis, Recurrent viral infections, Recurrent bacterial infections OMIM:242850
Rare Cutaneous Lupus Erythematosus
Abnormality of the periungual region, Pterygium of nails, Leukonychia, Scaling skin, Maculopapula... ORPHA:535
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Hyperkeratosis, Dry skin, Scaling skin, Erythema OMIM:614457
Neonatal Inflammatory Skin And Bowel Disease
Pustule, Chapped lip, Horizontal eyebrow, Recurrent bacterial skin infections, Scaling skin, Eryt... ORPHA:294023
Carvajal Syndrome
Woolly hair ORPHA:65282
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Erythroderma, Thyroiditis, Scaling skin, Alopecia universalis, Patchy a... OMIM:606367
Noonan Syndrome 8
Hyperkeratosis, Palmoplantar cutis laxa, Curly hair, Eczema OMIM:615355
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Recurrent bacterial infections OMIM:607624
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin ORPHA:2271
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent up... OMIM:605258
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Recurrent bronchitis, Nephritis, Arthritis OMIM:216950
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Conjunctivitis, Alopecia, Fragile nails OMIM:242150
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Porokeratosis Of Mibelli
Hyperkeratosis, Pruritus ORPHA:735
Phenylketonuria
Eczema, Dry skin, Fair hair OMIM:261600
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Anonychia, Epidermal acanthosis, Nail dystrophy OMIM:616029
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Sinusitis, Conjunctivitis... OMIM:601495
Bleeding Disorder, Platelet-Type, 21
Eczema, Psoriasiform dermatitis, Recurrent viral infections, Alopecia OMIM:617443
Leopard Syndrome 2
Curly hair, Dry skin OMIM:611554
Grubben-De Cock-Borghgraef Syndrome
Eczema, Dry skin ORPHA:2101
Immunodeficiency 17
Eczema, Recurrent otitis media, Recurrent respiratory infections, Recurrent gastroenteritis OMIM:615607
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Bjornstad Syndrome
Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei... OMIM:262000
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Recurrent bacterial infections OMIM:613779
Epidermolytic Palmoplantar Keratoderma
Erythema, Eczema, Palmoplantar keratoderma, Abnormal fingernail morphology ORPHA:2199
Prolidase Deficiency
Low anterior hairline, Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Hirsutism, Erythema, C... ORPHA:742
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Skin ulcer, Diffuse palmoplantar hyperkeratosis, Erythema ORPHA:2337
Pemphigus Erythematosus
Pruritus, Skin vesicle, Acantholysis, Crusting erythematous dermatitis ORPHA:79480
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Tiger tail banding OMIM:618546
Pachyonychia Congenita 2
Folliculitis, Dry hair, Subungual hyperkeratosis, Sparse scalp hair, Nail dysplasia, Sparse and t... OMIM:167210
Omenn Syndrome
Recurrent fungal infections, Erythroderma, Recurrent viral infections, Pneumonia, Alopecia, Recur... OMIM:603554
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on abdomen, Pruritus, Facial erythema, Palmar pruritus, Pruritus on foot, Eczematoid der... ORPHA:64745
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent bacterial infections, Ost... OMIM:608184
Sjögren-Larsson Syndrome
Hyperkeratosis, Dry skin, Inflammatory abnormality of the eye, Erythema ORPHA:816
Hypohidrotic Ectodermal Dysplasia
Abnormality of the nail, Generalized hypopigmentation of hair, Abnormal hair quantity, Hyperkerat... ORPHA:238468
Onychotrichodysplasia And Neutropenia
Short eyelashes, Curly hair, Sparse pubic hair, Concave nail, Hypoplastic fingernail, Curly eyela... OMIM:258360
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Sepsis, Septic arthritis ORPHA:36237
Acrokeratosis Verruciformis Of Hopf
Anonychia, Hyperkeratosis, Leukonychia, Punctate palmoplantar hyperkeratosis, Epidermal acanthosi... ORPHA:79151
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Absent toenail, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis, Ridged nail, Dystrophic to... ORPHA:89838
Skin Fragility-Woolly Hair Syndrome
Palmoplantar keratosis with erythema and scale, Acantholysis, Nail dysplasia, Sparse and thin eye... OMIM:607655
Harlequin Ichthyosis
Hyperkeratosis, Erythroderma ORPHA:457
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis, Dry skin OMIM:617066
Psoriasis 14, Pustular
Pustule, Erythema, Cholangitis, Epidermal acanthosis, Parakeratosis, Oligoarthritis, Psoriasiform... OMIM:614204
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Recurrent opportunistic infections, Failure to thrive secondary to recurrent infections, Pneumoni... OMIM:608971
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Interstitial pneumonitis, Erythroderma, Thyroiditis, Erythema, Hepatitis, Tub... ORPHA:139402
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent sinusitis, Conjunctivitis, Recurrent bacterial infections, Recu... OMIM:613493
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Recurrent sinusitis, Chronic atrophic gastritis, Recurrent sinopulmonary infectio... OMIM:616576
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Erythroderma, Alopecia ORPHA:169154
Immunodeficiency 58
Psoriasiform lesion, Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Br... OMIM:618131
Naxos Disease
Onycholysis, Palmoplantar keratoderma, Acantholysis, Curly hair, Sparse and thin eyebrow, Epiderm... OMIM:601214
Acral Self-Healing Collodion Baby
Lack of skin elasticity, Palmoplantar scaling skin, Erythema ORPHA:281127
Chilblain Lupus
Skin rash, Hyperkeratosis, Pruritis on hand, Discoid lupus rash, Malar rash, Skin ulcer, Inflamma... ORPHA:90280
Choroidal Atrophy-Alopecia Syndrome
Sparse hair, Ungual fibroma, Sparse or absent eyelashes, Abnormal toenail morphology, Supernumera... ORPHA:1433
Congenital Heart Defects And Ectodermal Dysplasia
Sparse scalp hair, Fragile nails, Dry skin OMIM:617364
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Eczema, Dry skin OMIM:612947
Ectodermal Dysplasia-Skin Fragility Syndrome
Pruritus, Chapped lip, Sparse hair, Palmoplantar keratoderma, Scaling skin, Cheilitis, Follicular... ORPHA:158668
Infantile Digital Fibromatosis
Hyperkeratosis, Epidermal acanthosis, Parakeratosis ORPHA:199267
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair OMIM:615279
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Hirsutism, Synophrys, Nail dysplasia, Low posterior hairline, Nail dystrophy... OMIM:300860
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Dwarfism, Familial, With Muscle Spasms
Sparse scalp hair, Brittle scalp hair, Fine hair OMIM:600771
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Recurrent candida infections OMIM:269840
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Erythroderma, Glomerulonephritis, Hepatitis, Alopecia, Eczema, Arthritis OMIM:304790
Trichothiodystrophy 6, Nonphotosensitive
Dry skin, Brittle hair, Tiger tail banding, Slow-growing hair OMIM:616943
Noonan Syndrome 5
Small nail, Sparse eyebrow, Curly hair, Fine hair, Dry skin OMIM:611553
Anhidrosis, Familial Generalized, With Abnormal Or Absent Sweat Glands
Aplasia of the sweat glands, Dry skin, Palmoplantar hyperkeratosis OMIM:206600
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Familial Melanoma
Abnormal hair morphology, Dry skin ORPHA:618
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Bare Lymphocyte Syndrome, Type Ii
Recurrent fungal infections, Recurrent upper respiratory tract infections, Viral hepatitis, Recur... OMIM:209920
Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:79456
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Thoracic hypertrichosis, Anterior cervical hypertrichosis, Lumbar hypertri... OMIM:117850
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Pachyonychia Congenita 4
Hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma OMIM:615728
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Recurrent infections, Recurrent aphthous stomatitis OMIM:613960
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Premature graying of hair, Alopecia of scalp, Low posterior hairline, Dry... ORPHA:2617
Rat-Bite Fever
Skin rash, Pustule, Parotitis, Endocarditis, Pericarditis, Lymphadenitis, Scaling skin, Maculopap... ORPHA:31205
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections OMIM:608106
Ectodermal Dysplasia-Syndactyly Syndrome 1
Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Palmar hyperkeratosis, Sparse ... OMIM:613573
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Long eyelashes, Epidermal acanthosis, Recurrent pneumonia OMIM:616069
Ichthyosis, Congenital, Autosomal Recessive 2
Small nail, Abnormal hair morphology, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Thin na... OMIM:242100
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Uv-Sensitive Syndrome 1
Dry skin OMIM:600630
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the nail, Hypoplastic toenails, Thin toenail, Ridged fingernail, Hypoplastic finge... ORPHA:2228
Psoriasis 1, Susceptibility To
Nail pits, Onycholysis, Onychomadesis, Psoriasiform dermatitis, Arthritis OMIM:177900
Zinc Deficiency, Transient Neonatal
Eczema, Alopecia OMIM:608118
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Purpura, Erythroderma, Maculopapular exanthema, Colitis, Petechiae, Encephalitis, Ecch... ORPHA:540
Lichen Planus Pemphigoides
Pruritus, Abnormality of the nail, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis ORPHA:254478
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis OMIM:615023
Porphyria Cutanea Tarda, Type I
Eczema, Hypertrichosis OMIM:176090
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Pyelonephritis, Recurrent otitis media, Recurrent si... OMIM:610984
Clouston Syndrome
Small nail, Onycholysis, Sparse eyelashes, Absent pubic hair, Absent axillary hair, Slow-growing ... OMIM:129500
Lichen Planopilaris
Pruritus, Onycholysis, Hyperkeratosis, Hepatitis, Alopecia, Skin ulcer, Abnormal fingernail morph... ORPHA:525
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Hyperkeratosis, Palmar hyperkeratosis, Plantar hyperkeratosis, Nail dystrophy ORPHA:79399
Autoinflammation With Arthritis And Dyskeratosis
Palmoplantar hyperkeratosis, Thyroiditis, Uveitis, Punctate keratitis, Follicular hyperkeratosis,... OMIM:617388
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn's disease OMIM:613148
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Recurre... OMIM:307200
Mental Retardation, Autosomal Dominant 34
Curly hair, Coarse hair, Synophrys OMIM:616351
Bazex Syndrome
Atopic dermatitis, Acne inversa, Sparse hair, Coarse hair, Eczema, Trichorrhexis nodosa, Pili tor... OMIM:301845
Complex Regional Pain Syndrome
Abnormality of hair growth, Slow-growing nails, Dry skin, Erythema ORPHA:83452
Bone Marrow Failure Syndrome 4
Eczema, Dry skin OMIM:618116
White Sponge Nevus 2
Epidermal acanthosis, Hyperparakeratosis OMIM:615785
Darier Disease
Pruritus, Abnormality of the nail, Abnormal hair morphology, Palmoplantar keratoderma, Subungual ... ORPHA:218
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis, Sparse scalp hair, Brittle hair, Fine hair, Pili torti ORPHA:1573
Pemphigus Foliaceus
Crusting erythematous dermatitis, Skin vesicle, Acantholysis, Erythema ORPHA:79481
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin ORPHA:1184
Pilodental Dysplasia With Refractive Errors
Brittle scalp hair, Abnormality of the nail, Sparse scalp hair, Follicular hyperkeratosis, Brittl... OMIM:262020
Bazex-Dupré-Christol Syndrome
Sparse hair, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Sparse or absent eyelashes,... ORPHA:113
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Adiposis Dolorosa
Sparse axillary hair, Sparse pubic hair, Dry skin, Recurrent skin infections, Arthritis ORPHA:36397
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Facial erythema, Palmoplantar keratoderma, Scarring alopecia of scalp, Nail dysplas... OMIM:612843
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair, Palmoplantar keratoderma OMIM:610476
Acrodermatitis Enteropathica
Pustule, Abnormal eyebrow morphology, Abnormality of the nail, Ridged nail, Ridged fingernail, Pa... ORPHA:37
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Highly arched eyebrow, Sparse eyebrow, Absent axillary hair, Scaling skin, Sparse pubic hair, Dry... OMIM:618419
Rhizomelic Chondrodysplasia Punctata
Sparse body hair, Alopecia, Dry skin ORPHA:177
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Nail dysplasia, Thick eyebrow, Facial hirsutism, Curly eyelashes, Low posterior hairl... ORPHA:163654
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Skin rash, Chronic hepatitis due to cryptosporidium infection, Recurrent fungal... ORPHA:572
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Skin rash, Chronic oral candidiasis, Recurrent upper and lowe... ORPHA:911
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Absent nipple, Sparse hair, Dry skin OMIM:614940
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Recurrent urinary tract infections, Onychomycosis, Pulmonary t... ORPHA:331235
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Cutaneous abscess, Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent oti... OMIM:618944
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Recurrent fungal infections, Recurrent Staphylococcus aureus infections, Eczematoid de... OMIM:147060
Olmsted Syndrome 1
Pruritus, Sparse hair, Palmoplantar keratoderma, Subungual hyperkeratosis, Nail dysplasia, Alopec... OMIM:614594
Wiskott-Aldrich Syndrome 2
Eczema, Recurrent infections OMIM:614493
Trichothiodystrophy 2, Photosensitive
Brittle hair, Coarse hair, Tiger tail banding OMIM:616390
Noonan Syndrome 6
Curly hair, Low posterior hairline, Sparse hair, Long eyebrows OMIM:613224
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer ORPHA:409
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit... OMIM:233710
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Sparse hair, Hypoplastic nipples, Sparse scalp hair, Dry skin, Sparse lateral eyeb... OMIM:614941
Graft Versus Host Disease
Acute hepatitis, Gastrointestinal inflammation, Scaling skin, Maculopapular exanthema, Pneumonia,... ORPHA:39812
Adult Syndrome
Nail pits, Abnormality of the nail, Absent nipple, Breast hypoplasia, Fingernail dysplasia, Hypop... ORPHA:978
Ichthyosis, Congenital, Autosomal Recessive 8
Hyperkeratosis, Orthokeratosis, Epidermal acanthosis, Erythema OMIM:613943
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse hair, Erythroderma, Sparse and thin eyebrow, Alopecia, Sparse eyelashes OMIM:302960
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Elastoderma
Eczema, Cutis laxa, Erysipelas, Premature skin wrinkling ORPHA:228240
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Colitis, Hepatitis, Recurrent infections, Recu... OMIM:300635
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Dystrophic toenail, Dystrophic fingernails,... ORPHA:1882
Riddle Syndrome
Dry skin OMIM:611943
Adult Syndrome
Nail pits, Absent nipple, Breast hypoplasia, Sparse axillary hair, Fair hair, Hypoplastic nipples... OMIM:103285
Porphyria Cutanea Tarda
Cutaneous abscess, Viral hepatitis, Recurrent bacterial skin infections, Hirsutism, Scaling skin,... ORPHA:101330
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Conjunctivitis... OMIM:240500
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform lesion, Skin rash, Nail pits, Pruritus, Onycholysis, Iridocyclitis, Iritis, Uveitis,... ORPHA:85436
Oral Erosive Lichen
Dry skin, Cheilitis, Erythema ORPHA:31142
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Con... OMIM:607594
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Small nail, Epidermal acanthosis, Nail dystrophy OMIM:181600
Immunodeficiency 25
Erythroderma, Recurrent pneumonia OMIM:610163
Distal Trisomy 6P
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity, Dry skin ORPHA:1745
Trichothiodystrophy
Ridged nail, Tiger tail banding, Sparse scalp hair, Alopecia of scalp, Split nail, Concave nail, ... ORPHA:33364
Popov-Chang syndrome
Hyperkeratosis, Recurrent otitis media, Coarse hair, Dry skin OMIM:618428
9P13 Microdeletion Syndrome
Highly arched eyebrow, Hypoplastic toenails, Recurrent otitis media, Hyperconvex nail, Thick eyeb... ORPHA:324313
Tooth Agenesis, Selective, 4
Short eyelashes, Sparse eyebrow, Sparse hair, Dry skin OMIM:150400
Hidrotic Ectodermal Dysplasia
Onycholysis, Sparse hair, Palmoplantar keratoderma, Hyperconvex nail, Sparse axillary hair, Abnor... ORPHA:189
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Skin rash, Recurrent Haemophilus influenzae infections, Recurrent opportunistic... ORPHA:276
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit... OMIM:233690
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Scaling skin, Pneumonia, Septic arthritis, Glomerulonephritis, Hepatitis,... ORPHA:36234
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Sparse eyelashes, Nail dysplasia, Sparse and thin eyebrow, Brittle hair, Abnormality of hair text... OMIM:225060
Whim Syndrome 1
Recurrent bacterial infections, Bronchiectasis, Recurrent upper respiratory tract infections OMIM:193670
Noonan Syndrome 9
Curly hair, Sparse eyebrow OMIM:616559
Immunodeficiency 33
Disseminated nontuberculous mycobacterial infection, Recurrent bacterial infections OMIM:300636
Epidermodysplasia Verruciformis
Pustule, Seborrheic dermatitis, Recurrent skin infections ORPHA:302
Xeroderma Pigmentosum Variant
Keratitis, Dry skin ORPHA:90342
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Follicular hyperkeratosis, Dry skin ORPHA:486815
Adult Idiopathic Neutropenia
Recurrent fungal infections, Helicobacter pylori infection, Recurrent infections, Recurrent bacte... ORPHA:2688
Cortisone Reductase Deficiency 1
Hirsutism, Acne OMIM:604931
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin, Erythema ORPHA:90160
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Recurrent bacterial skin infections, Chronic otitis media, Recurrent sinusitis... ORPHA:217390
Hawkinsinuria
Fine hair, Sparse hair ORPHA:2118
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis, Nail dystrophy OMIM:616106
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair OMIM:617360
Dracunculiasis
Skin rash, Pruritus, Recurrent cutaneous abscess formation, Arthritis ORPHA:231
Jung Syndrome
Low posterior hairline, Dry skin ORPHA:2321
Spinocerebellar Ataxia Type 34
Dry skin ORPHA:1955
Trichohepatoneurodevelopmental Syndrome
Pruritus, Curly hair, Coarse hair, Synophrys, Hypoplastic nipples, Hypertrichosis, Woolly hair, O... OMIM:618268
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis, Osteomyelitis OMIM:239840
Trichohepatoenteric Syndrome 2
Sparse hair, Uncombable hair, Brittle hair, Pili canaliculi, Woolly hair, Trichorrhexis nodosa OMIM:614602
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Aplasia of the eccrine sweat glands, Severe cytomegalovirus infection, Molluscum con... OMIM:300291
Uremic Pruritus
Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections, Dry skin ORPHA:94059
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Onychauxis, Hypertrichosis, Dry skin OMIM:262190
Immunodeficiency, Common Variable, 8, With Autoimmunity
Psoriasiform lesion, Inflammation of the large intestine, Bronchiectasis, Thyroiditis, Recurrent ... OMIM:614700
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Follicular hyperkeratosis, Epidermal acanthosis, Parakeratosis, Nail dy... OMIM:615225
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis, Coarse hair, Brittle hair, Sparse hair ORPHA:1883
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Dry skin OMIM:268020
19Q13.11 Microdeletion Syndrome
Sparse hair, Nail dysplasia, Sparse lateral eyebrow, Sparse or absent eyelashes, Supernumerary ni... ORPHA:217346
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin OMIM:614450
Arthrogryposis And Ectodermal Dysplasia
Trichodysplasia, Hyperkeratosis, Trichiasis, Absent eyebrow, Nail dysplasia, Dry skin OMIM:601701
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Sparse hair, Absent eyelashes, Absent eyebrow, Hypoplastic nipples, Concave nail, ... OMIM:305100
Tangier Disease
Nail dysplasia, Nail dystrophy, Dry skin OMIM:205400
Cardiofaciocutaneous Syndrome 1
Atopic dermatitis, Sparse hair, Absent eyelashes, Hyperkeratosis, Curly hair, Absent eyebrow, Slo... OMIM:115150
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis OMIM:147050
Atopic Keratoconjunctivitis
Keratitis, Keratoconjunctivitis sicca, Loss of eyelashes, Blepharitis, Dry skin ORPHA:163934
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Sparse hair, Hyperkeratosis, Curly hair, Long eyelashes, Sparse scalp hair, Loose anagen hair, Ec... OMIM:607721
Smith-Kingsmore Syndrome
Curly hair OMIM:616638
Thyroid Dyshormonogenesis 1
Dry skin OMIM:274400
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Periodontitis, Pneumonia, Recurrent viral infections, Recurrent sinopul... ORPHA:486
Noonan Syndrome 7
Curly hair, Low posterior hairline OMIM:613706
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Thick eyebrow, Coarse hair, Synophrys ORPHA:1021
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent fungal infections, Chronic otitis media, Recurrent viral infections, Pneumonia, Meningi... ORPHA:169090
Iga Pemphigus
Pruritus, Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Acantholysis, Ulcera... ORPHA:555905
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Hypoplastic sweat glands, Hyperkeratosis, Acne inversa, Orthokeratosis, Nail dystrophy OMIM:617337
Radio-Tartaglia Syndrome
Highly arched eyebrow, Low anterior hairline, Small nail, High anterior hairline, Hirsutism, Long... OMIM:619312
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin ORPHA:1035
Leukocyte Adhesion Deficiency, Type I
Recurrent staphylococcal infections, Periodontitis, Recurrent bacterial infections, Osteomyelitis... OMIM:116920
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections ORPHA:169079
Noonan Syndrome 10
Hyperkeratosis, Palmoplantar cutis laxa, Curly hair, Sparse eyebrow OMIM:616564
Familial Benign Chronic Pemphigus
Hyperkeratosis, Skin vesicle, Acantholysis, Erythema ORPHA:2841
Idiopathic Hypereosinophilic Syndrome
Pruritus, Erythroderma, Colitis, Chronic hepatitis, Cholangitis, Arthritis, Pancreatitis, Eczema,... ORPHA:3260
Noonan Syndrome 13
Highly arched eyebrow, Recurrent otitis media, Broad eyebrow, Hypertrichosis, Generalized hirsuti... OMIM:619087
Noonan Syndrome 2
Sparse eyebrow, Hyperkeratosis, Palmoplantar cutis laxa, Curly hair, Low posterior hairline OMIM:605275
Cardiofaciocutaneous Syndrome
Sparse hair, Palmoplantar keratoderma, Hyperkeratosis, Redundant skin, Abnormal eyelash morpholog... ORPHA:1340
Juvenile Dermatomyositis
Skin rash, Pruritus, Pericarditis, Erythema, Arthritis, Alopecia, Myositis, Skin ulcer, Dry skin ORPHA:93672
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Eczema, Sparse hair, Abnormal fingernail morphology ORPHA:1810
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Recurrent pneumonia, Recurrent upper respiratory tract infect... ORPHA:277
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Dry skin ORPHA:3085
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Seborrheic dermatitis, Acne OMIM:167100
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Agel Amyloidosis
Pruritus, Sparse hair, Cutis laxa, Keratoconjunctivitis sicca, Nail dystrophy, Dry skin ORPHA:85448
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczema, Erythema OMIM:254400
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratosis, Leukonychia, Palmoplantar keratoderma ORPHA:2698
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Seborrheic dermatitis, Eczematoid dermatitis, Redundant skin, Erythema, Arthritis, Palmoplantar h... OMIM:259100
Xfe Progeroid Syndrome
Dry skin OMIM:610965
Acrogeria
Excessive wrinkled skin, Fine hair, Skin ulcer ORPHA:2500
Myxedema
Dry skin OMIM:255900
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Dry skin OMIM:618527
Noonan Syndrome 4
Curly hair, Sparse eyebrow, High anterior hairline OMIM:610733
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Dry skin OMIM:618156
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma OMIM:617425
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Recurrent respiratory infections, Recurrent bacterial infections OMIM:613496
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Sparse hair, Nail dysplasia, Concave nail, Brittle hair, Abnormality of hair texture,... OMIM:234050
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Low anterior hairline, Horizontal eyebrow, High anterior hairline, Thick eyebrow, Dry skin OMIM:618797
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair ORPHA:457485
Bachmann-Bupp Syndrome
Small nail, Sparse eyelashes, Absent eyebrow, Sparse scalp hair, Dry skin OMIM:619075
Papillon-Lefèvre Syndrome
Generalized hirsutism, Severe periodontitis, Pustule, Abnormality of the nail, Periodontitis, Chr... ORPHA:678
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormal hair morphology, Abnormal eyelash morphology, Leukonychia, Scaling skin, Panniculitis, E... ORPHA:2526
Oculodentodigital Dysplasia
Abnormality of the nail, Sparse hair, Palmoplantar keratoderma, Curly hair, Slow-growing hair, Br... ORPHA:2710
Bullous Pemphigoid
Eczema, Psoriasiform dermatitis, Recurrent infections ORPHA:703
Immunodeficiency 10
Nail dysplasia, Recurrent infections, Recurrent bacterial infections OMIM:612783
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Palmoplantar keratosis with erythema and scale, Recurrent loss of toenails and fingernails, Eryth... ORPHA:158673
Progeroid Syndrome, Petty Type
Abnormality of the nail, Sparse hair, Abnormal hair morphology, Redundant skin, Cutis laxa, Long ... ORPHA:2963
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Pruritus, Inflammatory abnormality of the skin, Erythema ORPHA:79099
Eec Syndrome
Nail pits, Hyperkeratosis, Coarse hair, Slow-growing hair, Thick eyebrow, Keratitis, Sparse and t... ORPHA:1896
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Nail dysplasia, Alopecia, Fine hair, Dry skin OMIM:613990
Peroxisome Biogenesis Disorder 14B
Dry skin OMIM:614920
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Hyperkeratosis, Keratoconjunctivitis sicca, Fine hair, Skin ulcer, Abnormal fingerna... ORPHA:1806
X-Linked Dominant Chondrodysplasia Punctata
Erythema, Scarring alopecia of scalp, Abnormal fingernail morphology, Abnormality of hair texture ORPHA:35173
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Recurrent skin infections, Recurrent bacterial infections OMIM:612840
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Chand Syndrome
Nail dysplasia, Curly hair, Dry skin ORPHA:1401
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, Recurrent respiratory infections, Conjunctivitis... ORPHA:33110
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Dry skin ORPHA:95715
Cranioectodermal Dysplasia 3
Sparse hair, Broad nail, Cutis laxa, Short nail, Fine hair, Dry skin OMIM:614099
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis, Sparse hair, Alopecia, Fine hair ORPHA:1839
Trichohepatoenteric Syndrome 1
Sparse hair, Curly hair, Brittle hair, Woolly hair, Trichorrhexis nodosa, Fine hair OMIM:222470
Congenital Disorder Of Glycosylation, Type Iil
Hyperkeratosis, Inflammation of the large intestine, Dry skin OMIM:614576
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Cataract, Aberrant Oral Frenula, And Growth Retardation
Curly hair OMIM:115645
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, Sparse hair, Dermal translucency, Curly hair, High anterior hairline, Slow... OMIM:617506
Autosomal Dominant Hypocalcemia
Abnormality of the nail, Abnormal fingernail morphology, Alopecia, Eczema, Dry skin ORPHA:428
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Seborrheic dermatitis, Acne OMIM:614441
Weaver Syndrome
Hypoplastic toenails, Deep-set nails, Redundant skin, Thin nail, Fine hair, Abnormal fingernail m... ORPHA:3447
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Thyroiditis, Recurrent infections, Eczema OMIM:618985
Incontinentia Pigmenti
Nail pits, Sparse hair, Breast hypoplasia, Hyperkeratosis, Ridged nail, Coarse hair, Breast aplas... OMIM:308300
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Woolly hair, Palmoplantar keratoderma OMIM:605676
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Ddost-Cdg
Dry skin ORPHA:300536
Chromosome 19Q13.11 Deletion Syndrome, Distal
Sparse eyebrow, Sparse hair, Sparse eyelashes, Nail dysplasia, Dry skin OMIM:613026
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Onychogryposis of toenails, Sparse and thin eyebrow, Dry skin OMIM:600906
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Immunodeficiency 36
Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial infections OMIM:616005
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Supernumerary nipple, Aplasia/Hypoplasia of the eyebrow, Aplastic/hypoplastic toenail, Fine hair,... ORPHA:1812
Hydroxykynureninuria
Stomatitis, Dry skin ORPHA:79155
Barber-Say Syndrome
Absent nipple, Redundant skin, Hypoplastic nipples, Hypertrichosis, Sparse and thin eyebrow, Dry ... OMIM:209885
Immunodeficiency 47
Recurrent bacterial infections OMIM:300972
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Pgm3-Cdg
Recurrent pneumonia, Esophagitis, Cutaneous abscess, Allergic rhinitis, Atopic dermatitis, Bronch... ORPHA:443811
Kid Syndrome
Generalized hyperkeratosis, Hypoplastic toenails, Sparse hair, Palmoplantar keratoderma, Aplasia/... ORPHA:477
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Abnormality of hair texture OMIM:601957
Pachydermoperiostosis
Seborrheic dermatitis, Abnormal hair quantity, Palmoplantar keratoderma, Eczematoid dermatitis, A... ORPHA:2796
Biotinidase Deficiency
Skin rash, Seborrheic dermatitis, Conjunctivitis, Alopecia, Recurrent skin infections OMIM:253260
Darier-White Disease
Pruritus, Subungual hyperkeratotic fragments, Ridged nail, Acantholysis OMIM:124200
Riddle Syndrome
Recurrent pneumonia, Recurrent sinusitis, Scaling skin, Pneumonia, Erythema, Chronic sinusitis, O... ORPHA:420741
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal hair quantity, Alopecia, Dry skin ORPHA:457059
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Perianal abscess, Enterocolitis OMIM:612567
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Skin rash, Pustule, Hyperkeratosis, Stomatitis, Epidermal acanthosis, Osteomyelitis OMIM:612852
Letterer-Siwe Disease
Seborrheic dermatitis, Pallor, Stomatitis OMIM:246400
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent urina... OMIM:613179
Cutis Laxa, Autosomal Recessive, Type Iiib
Dermal translucency, Sparse hair, Cutis laxa, Excessive wrinkled skin, Fine hair OMIM:614438
Limb-Mammary Syndrome
Sparse eyebrow, Bilateral breast hypoplasia, Absent nipple, Chronic irritative conjunctivitis, Br... ORPHA:69085
Neutropenia, Severe Congenital, 1, Autosomal Dominant