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
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Patchy palmoplantar hyperkeratosis OMIM:616400
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Palmoplantar keratoderma, Sparse ... 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, Brittle hair, Pili canaliculi OMIM:617252
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
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... OMIM:614372
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Epidermal acanthosis, Absent facia... ORPHA:90368
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Peeling Skin Syndrome 3
Abnormal hair morphology, Erythema, White scaling skin, Pruritus OMIM:616265
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis, Erythroderma OMIM:113800
Ulerythema Ophryogenesis
Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, Contact dermat... ORPHA:3406
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin OMIM:617571
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Concave nail, Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperk... ORPHA:530838
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Perifolliculitis, Alopecia of scalp OMIM:260910
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Epidermal acanthosis, Patchy palmoplantar hyperkeratosis, Erythroderma OMIM:133200
Kerion Celsi
Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ... ORPHA:499
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Bathing Suit Ichthyosis
Alopecia, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Palmoplantar scaling ... ORPHA:100976
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Peeling Skin Syndrome 1
Brittle hair, Pruritus, Onycholysis, Scaling skin, Nail dystrophy, Erythroderma OMIM:270300
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Eryt... OMIM:612281
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis, Whit... OMIM:604777
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis ORPHA:464318
Ichthyosis Prematurity Syndrome
Epidermal acanthosis, Allergic rhinitis, Pruritus, Follicular hyperkeratosis, Erythroderma, Alope... OMIM:608649
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N... OMIM:212360
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:602723
Ichthyosis With Confetti
Pruritus, Palmoplantar hyperkeratosis, Scaling skin, Hypoplastic nipples, Erythroderma, Hypertric... OMIM:609165
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Epidermal acanthosis, Erythroderma OMIM:615022
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis, Scaling skin OMIM:617115
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern... ORPHA:79147
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Ichthyosis Vulgaris
Eczematoid dermatitis, Absent keratohyalin granules, Dry skin OMIM:146700
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail ... OMIM:242300
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections, Abnormal hair morphology ORPHA:345
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Lamellar Ichthyosis
Pruritus, Lack of skin elasticity, Hyperkeratosis, Abnormality of the nail, Erythroderma, Sparse ... ORPHA:313
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Palmoplantar keratoderma, Erythroderma, Abno... ORPHA:2897
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Palmoplantar keratoderm... OMIM:618535
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... OMIM:613860
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Erythema, Follicular hyperkeratosis, Sp... OMIM:607903
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Peeling Skin Syndrome 4
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ort... OMIM:607936
Autosomal Dominant Epidermolytic Ichthyosis
Hyperkeratosis, Palmoplantar keratoderma, Skin ulcer, Erythroderma ORPHA:312
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Epidermal acanthosis, Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkerat... OMIM:616295
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dry skin ORPHA:454
Ichthyosis, Congenital, Autosomal Recessive 10
Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma OMIM:615024
Classic Mycosis Fungoides
Alopecia, Skin rash, Eczema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin, Abnormalit... ORPHA:2584
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Tooth Agenesis, Selective, 8
Sparse eyebrow, Dry skin, Sparse hair OMIM:617073
Bazex Syndrome
Parakeratosis, Yellow nails, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Na... ORPHA:166113
Acrokeratosis Verruciformis
Ridged nail, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Epidermal acanthosis OMIM:101900
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Scaling skin... OMIM:607602
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hyperkerat... OMIM:602400
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Pal... ORPHA:2890
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Allergic rhinitis, Pruritus, Erythrod... ORPHA:330064
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis OMIM:609536
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati... ORPHA:79481
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral... OMIM:608957
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Pruritus, Palmoplantar keratoderma, Erythroderma, Abnormality of the nail ORPHA:79394
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Dry skin, Absent pubic hair, C... ORPHA:2269
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Facial erythema, Follicu... OMIM:308800
Dermatitis, Atopic
Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic dermatitis, Facial erythem... OMIM:603165
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... OMIM:224750
Amyloidosis, Primary Localized Cutaneous, 1
Pruritus, Dry skin, Scaling skin OMIM:105250
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Pruritus, Perifollicular hy... ORPHA:505
Sézary Syndrome
Alopecia, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Erythroderma, Dry skin ORPHA:3162
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Erythrokeratodermia Variabilis
Alopecia, Skin rash, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Hype... ORPHA:317
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Patchy ... ORPHA:346
Keratoderma Hereditarium Mutilans With Ichthyosis
Scaling skin on fingertip, Alopecia, Epidermal acanthosis, Parakeratosis, Palmoplantar hyperkerat... ORPHA:79395
Olmsted Syndrome 2
Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar h... OMIM:619208
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Scaling skin, Spar... OMIM:604536
Amyloidosis, Primary Localized Cutaneous, 3
Pruritus, Dry skin OMIM:617920
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
Chilblain Lupus 2
Chilblains OMIM:614415
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:615598
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hyperkeratosis, Epidermal acanthosis, Erythroderma OMIM:615023
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Netherton Syndrome
Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Brittle scalp hair, Ec... OMIM:256500
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Sparse eyebrow, Abnormal hair morphology,... ORPHA:634
Dermoodontodysplasia
Dry skin, Nail dysplasia, Trichodysplasia OMIM:125640
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis OMIM:617756
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Immunodeficiency 84
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Dowling-Degos Disease 4
Pruritus, Epidermal acanthosis OMIM:615696
Idiopathic Localized Lipodystrophy
Pruritus, Inflammatory abnormality of the skin, Erythema, Scaling skin ORPHA:90158
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Immunodeficiency 53
Recurrent urinary tract infections, Skin rash, Recurrent pneumonia, Recurrent upper respiratory t... OMIM:617585
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... ORPHA:87503
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis OMIM:620148
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Acral Peeling Skin Syndrome
Erythema, Eczema, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Pustule, Paronychia, Perioral erythema, Erythroderma, Blepharitis, Onychogryposis OMIM:614328
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Alopecia, Lymphadenitis, Erythema, Scaling skin ORPHA:90156
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Dry skin ORPHA:1954
Huriez Syndrome
Lack of skin elasticity, Palmoplantar keratoderma, Small nail, Dry skin, Abnormality of the nail ORPHA:384
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair, Dry skin OMIM:129490
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis, Epidermal acanthosis, Cutis laxa ORPHA:79148
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Erosive Pustular Dermatosis Of The Scalp
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Pustule ORPHA:222
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Atrophoderma Vermiculata
Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule ORPHA:79100
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:617526
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Dry skin, Scaling skin, Erythroderma OMIM:609180
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... OMIM:261900
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Cutaneous abscess OMIM:619986
Naxos Disease
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture ORPHA:34217
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Fine hair, Hyperkeratosis, Keratoconjunctivitis sicca, Fragile nails... OMIM:601675
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Posterior blepha... OMIM:300918
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Angular cheiliti... OMIM:613102
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... OMIM:615508
Anonychia With Flexural Pigmentation
Anonychia, Dry skin OMIM:106750
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis OMIM:610227
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613736
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Nail dystrophy OMIM:131850
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronch... OMIM:618282
Aicardi-Goutieres Syndrome 5
Chilblains, Dry skin, Scaling skin OMIM:612952
Candidiasis, Familial, 8
Seborrheic dermatitis, Cheilitis, Chronic oral candidiasis, Onychomycosis, Blepharitis OMIM:615527
Copper Deficiency, Familial Benign
Curly hair, Early balding, Seborrheic dermatitis OMIM:121270
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Nail dystrophy ORPHA:79503
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis OMIM:146750
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Erythroderma OMIM:618840
Omenn Syndrome
Alopecia, Pneumonia, Pruritus, Thyroiditis, Erythroderma, Dry skin, Aplasia/Hypoplasia of the eye... ORPHA:39041
Leopard Syndrome 3
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Dry skin OMIM:613707
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Scaling skin ORPHA:90283
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Dry skin OMIM:618373
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... ORPHA:129
Immunodeficiency 15A
Recurrent respiratory infections, Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurre... OMIM:618204
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... OMIM:613779
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Immunodeficiency 66
Pustule, Meningitis, Recurrent skin infections, Sepsis OMIM:618847
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy OMIM:616487
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Recurrent viral infections, Recurrent pneumonia, Recurrent upper respi... OMIM:614868
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Epidermal acanthosis, Short nai... OMIM:257980
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:280785
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy... OMIM:615821
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema OMIM:300988
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media OMIM:300455
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant... OMIM:605676
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Nail dystrophy, Atopic dermatitis, Pneumonia, Recurrent upper respiratory tract infections OMIM:618806
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry... ORPHA:1028
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Carvajal Syndrome
Woolly hair ORPHA:65282
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin ORPHA:461
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Epidermal acanthosis, Sparse eyebrow, Prur... OMIM:607626
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Sparse hair, Fragile nails OMIM:242150
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokerat... OMIM:617525
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... ORPHA:35173
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Recurrent herpes, Pneumonia, Recurrent pneumonia, Hepatitis, Recurrent ... ORPHA:169160
Vulvovaginal Gingival Syndrome
Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema ORPHA:83453
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin ORPHA:2271
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, P... OMIM:148700
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis, Recurrent bronchitis OMIM:216950
Noonan Syndrome 8
Palmoplantar cutis laxa, Curly hair, Hyperkeratosis, Eczema OMIM:615355
Griscelli Syndrome, Type 2
Silver-gray hair, Recurrent bacterial infections, Melanin pigment aggregation in hair shafts OMIM:607624
Dermoodontodysplasia
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Dry skin, Toenail dysplasia, Sparse bod... ORPHA:1660
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Cheilitis, Eosinop... ORPHA:293173
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair, Palmoplantar keratoderma OMIM:610476
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... OMIM:613500
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Psoriasiform dermatitis, Eczema, Thyroiditis, Patchy alopecia, Scaling ... OMIM:606367
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis ORPHA:735
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Facial erythema... ORPHA:1010
Naxos Disease
Curly hair, Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse... OMIM:601214
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor... ORPHA:294023
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczema OMIM:300299
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Immunodeficiency 104
Pneumonia, Eczema, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis, Otitis ... OMIM:608971
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Eczema ORPHA:2101
Phenylketonuria
Fair hair, Eczema, Dry skin OMIM:261600
Leopard Syndrome 2
Curly hair, Dry skin OMIM:611554
Epidermolytic Palmoplantar Keratoderma
Abnormal fingernail morphology, Epidermal acanthosis, Epidermal hyperkeratosis, Diffuse palmoplan... ORPHA:2199
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Cutis laxa, Hyperkeratosis, Dry skin, Hypertrichosis OMIM:612379
Prolidase Deficiency
Abnormal fingernail morphology, Pruritus, Erythema, Low anterior hairline, Crusting erythematous ... ORPHA:742
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Recurrent bacterial infections, Conjunctivitis, Recurrent sinus... OMIM:613493
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis, Erythroderma OMIM:133190
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash ORPHA:163525
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ... OMIM:608184
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Kid Syndrome
Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Recurrent cutaneous fungal ... ORPHA:477
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Hyperkeratosis, Erythema, Dry skin, Scaling skin OMIM:614457
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Sjögren-Larsson Syndrome
Hyperkeratosis, Erythema, Dry skin, Inflammatory abnormality of the eye ORPHA:816
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Sepsis, Septic arthritis ORPHA:36237
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... ORPHA:64745
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis nodosa, Hyperkeratosi... ORPHA:238468
Harlequin Ichthyosis
Hyperkeratosis, Erythroderma ORPHA:457
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Arthritis, Recurrent bact... OMIM:300310
Onychotrichodysplasia And Neutropenia
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... OMIM:258360
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Myocarditis, Erythema, Hepatitis, Thyroiditis, Tubulointerstitial nephritis, ... ORPHA:139402
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Psoriasiform lesion, Erythroderma ORPHA:169154
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke... ORPHA:158668
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Pustule, Erythema, Oli... OMIM:614204
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent lower respiratory tract infecti... OMIM:613501
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair OMIM:615279
Diffuse Cutaneous Mastocytosis
Pruritus, Scaling skin, Erythroderma ORPHA:79456
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Brittle hair, Slow-growing hair, Dry skin OMIM:616943
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis,... OMIM:610768
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... OMIM:243700
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis, Epidermal acanthosis ORPHA:199267
Cutaneous Mastocytoma
Pruritus, Erythema, Maculopapular exanthema, Scaling skin ORPHA:79455
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... OMIM:605258
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis OMIM:608106
Immunodeficiency 58
Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic... OMIM:618131
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Scali... ORPHA:454831
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ... ORPHA:90280
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Alopecia, Recurrent skin infections, Recu... OMIM:616576
Noonan Syndrome 5
Curly hair, Sparse eyebrow, Fine hair, Small nail, Dry skin OMIM:611553
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma OMIM:304790
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Ameloonychohypohidrotic Syndrome
Dry skin, Onycholysis, Seborrheic dermatitis OMIM:104570
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Sparse eyebrow, Dry skin, Onychogryposis of toenails OMIM:600906
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Sinusitis,... ORPHA:83471
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Familial Melanoma
Abnormal hair morphology, Dry skin ORPHA:618
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Low posterior hairline, Premature graying of hair, Alopecia of scalp, Dry... ORPHA:2617
Congenital Heart Defects And Ectodermal Dysplasia
Medial flaring of the eyebrow, Sparse scalp hair, High anterior hairline, Dry skin, Fragile nails OMIM:617364
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Skin rash, Colitis, Erythroderma, Ecchymosis, Infectious encephalitis, P... ORPHA:540
Porphyria Cutanea Tarda, Type I
Eczema, Hypertrichosis OMIM:176090
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Palmoplantar hyperkeratosis, Sparse hair, Alopecia ... OMIM:615280
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis ORPHA:79399
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis, Onycho... ORPHA:525
Uv-Sensitive Syndrome 1
Dry skin OMIM:600630
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality of the nail ORPHA:254478
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Epidermal acanthosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonyc... ORPHA:79151
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... OMIM:129500
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein expression OMIM:247100
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Palmopl... OMIM:167210
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... ORPHA:2228
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Chronic sinusitis OMIM:613502
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Recurrent pneumonia, Chronic mucocutaneous candidi... OMIM:147060
Zinc Deficiency, Transient Neonatal
Alopecia, Eczema OMIM:608118
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ... ORPHA:183675
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Nail pits, Arthritis, Onycholysis, Onychomadesis OMIM:177900
Complex Regional Pain Syndrome
Abnormality of hair growth, Erythema, Slow-growing nails, Dry skin ORPHA:83452
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Conjunctivitis, Recurrent otitis media, Chro... OMIM:612692
Omenn Syndrome
Alopecia, Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal... OMIM:603554
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Cortisone Reductase Deficiency 1
Alopecia, Acne, Hirsutism OMIM:604931
Adiposis Dolorosa
Recurrent skin infections, Sparse axillary hair, Sparse pubic hair, Arthritis, Dry skin ORPHA:36397
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Autoinflammation With Arthritis And Dyskeratosis
Epidermal acanthosis, Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Keratoconjunctivitis sic... OMIM:617388
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Erythema, Cheilitis, Ski... ORPHA:37
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti ORPHA:1573
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin ORPHA:1184
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis, Erythema, Epidermal acanthosis OMIM:613943
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Synophrys, Coarse hair OMIM:616351
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
White Sponge Nevus 2
Hyperparakeratosis, Epidermal acanthosis OMIM:615785
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Brittle hair, Absent nipple, Sparse hair, Dry skin, Absent hair OMIM:614940
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Rhinitis, H... OMIM:614941
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis OMIM:193670
Bone Marrow Failure Syndrome 4
Dry skin, Eczema OMIM:618116
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ... ORPHA:163654
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Recurrent si... OMIM:240500
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Lymphadeni... ORPHA:911
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum, Recurrent respiratory infections, Recurrent infections OMIM:615214
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Dry skin, Fine hair, P... OMIM:129400
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Facial erythem... OMIM:612843
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection, Ch... ORPHA:98813
Basan Syndrome
Palmoplantar keratoderma, Epidermal acanthosis, Nail dystrophy OMIM:129200
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Recurrent herpes, Sinusitis, Skin rash, Recurrent viral infecti... ORPHA:572
Bazex-Dupre-Christol Syndrome
Eczema, Trichorrhexis nodosa, Atopic dermatitis, Coarse hair, Sparse hair, Trichoepithelioma, Pil... OMIM:301845
Rhizomelic Chondrodysplasia Punctata
Alopecia, Dry skin, Sparse body hair ORPHA:177
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233710
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Eczema, Erythroderma OMIM:619510
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Decreased number of sweat glands, Punctate palmoplantar hyperkeratosis,... ORPHA:69087
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Generalized Pustular Psoriasis
Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma, Abnormality of the... ORPHA:247353
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Noonan Syndrome 6
Sparse hair, Curly hair, Long eyebrows, Low posterior hairline OMIM:613224
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Perianal erythema, Eczema, Recurrent skin infections... OMIM:308205
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent skin infections, Recurrent upper respiratory tract infections, Atopic dermatitis, Recur... OMIM:618944
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail ORPHA:1882
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Elbow hypertrichosis, Dry skin, Long eyelashes, Eczema OMIM:620191
Hatipoglu Immunodeficiency Syndrome
Fair hair, Eczema, Atopic dermatitis, Premature graying of hair, Recurrent otitis media, Dry skin... OMIM:620331
Atelis Syndrome 1
Dry skin, Eczema, Bronchiectasis OMIM:620184
Noonan Syndrome 9
Sparse eyebrow, Curly hair OMIM:616559
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... ORPHA:39812
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Riddle Syndrome
Dry skin OMIM:611943
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Nail pits, Hypoplastic nipples... ORPHA:978
Elastoderma
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa ORPHA:228240
Immunodeficiency 25
Recurrent pneumonia, Erythroderma OMIM:610163
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle ORPHA:158681
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, R... OMIM:300635
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Synophrys, Low posterior hairline, Nail dystrophy, Dry skin, Hirsutism OMIM:300860
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233690
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, R... OMIM:607594
Wiskott-Aldrich Syndrome 2
Eczema, Recurrent infections OMIM:614493
Distal Duplication 6P
Abnormal eyelash morphology, Fine hair, Dry skin, Abnormal hair quantity ORPHA:1745
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis ORPHA:486815
Trichothiodystrophy 8, Nonphotosensitive
Eczema, Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:619691
Adult Syndrome
Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Dry skin, Nail pits, C... OMIM:103285
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Palmar hyperkeratosis, Dry skin, Dystrophic f... OMIM:150400
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis OMIM:148600
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse hair, Curly hair, Synophrys, Sparse eyebrow OMIM:620075
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Iridocycliti... ORPHA:85436
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Congenital exfoliative erythroderma, Brittle hair, Split nail, Ec... ORPHA:33364
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Skin rash, Pneumonia, Severe recurrent var... ORPHA:276
Recon Progeroid Syndrome
Hyperconvex thumb nails, Absent lower eyelashes, Keratoconjunctivitis sicca, Scaling skin, Dry sk... OMIM:620370
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis, Eczema, Recurrent viral infections OMIM:617443
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Patchy palmoplantar hyperkeratosis OMIM:616400
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail OMIM:181600
Epidermodysplasia Verruciformis
Pustule, Recurrent skin infections, Seborrheic dermatitis ORPHA:302
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding OMIM:616390
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse hair OMIM:302960
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Viral hepatitis, Chronic hepatitis, Cutaneous abscess, Scali... ORPHA:101330
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Epidermal acanthosis, Thin nail, Abnormal hair morphology, Erythema, Hyperkeratosis, Pa... OMIM:242100
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... ORPHA:36234
Xeroderma Pigmentosum Variant
Keratitis, Dry skin ORPHA:90342
Braddock-Carey Syndrome 1
Sparse hair, Curly hair OMIM:619980
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Hyperkeratosis, Parakeratosis, Dry skin, Epidermal acanthosis OMIM:618527
Noonan Syndrome 14
Curly hair, Sparse eyebrow, Low posterior hairline, Sparse hair, Dry skin OMIM:619745
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Lymphadenitis, Inflammation of the large intestine, Nail dystrophy, Erythroderma OMIM:615895
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Recurrent bronchitis OMIM:612567
Mpdu1-Cdg
Eczema, Scaling skin ORPHA:79323
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent pneumonia, Long eyelashes, Epidermal acanthosis OMIM:616069
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow OMIM:617392
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia OMIM:616029
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis, Nail dystrophy OMIM:616106
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... ORPHA:79153
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis, Osteomyelitis OMIM:239840
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dyst... OMIM:617337
Immunodeficiency 12
Skin rash, Recurrent viral infections, Cheilitis, Bronchiectasis, Recurrent bacterial infections,... OMIM:615468
Specific Granule Deficiency 2
Recurrent pneumonia, Hirsutism, Sepsis, Recurrent bacterial infections, Nail dysplasia, Recurrent... OMIM:617475
Cole Disease
Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratode... OMIM:615522
Jung Syndrome
Dry skin, Low posterior hairline ORPHA:2321
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Dry skin, Broad eyebrow OMIM:619244
Spinocerebellar Ataxia Type 34
Dry skin ORPHA:1955
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Redundant neck skin, Highly arched eyebrow, Low posterior hairline, Thick eyebrow OMIM:617360
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis OMIM:615735
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Concave nail, Absent eyela... OMIM:305100
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection... ORPHA:486
Uremic Pruritus
Pruritus, Inflammatory abnormality of the skin, Dry skin, Recurrent skin infections ORPHA:94059
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair ORPHA:1883
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Chronic rhinitis, ... OMIM:615225
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Recurrent bacterial infections, Recurrent fu... ORPHA:2688
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Dry skin OMIM:268020
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Dry skin, Onychauxis, Hypertrichosis OMIM:262190
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Atopic dermatitis, Low posterior... OMIM:115150
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Dry ski... ORPHA:217346
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Psoriasiform lesion, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronch... OMIM:614700
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin OMIM:614450
Hypothyroidism, Congenital, Nongoitrous, 4
Dry skin OMIM:275100
Acrokeratoelastoidosis Of Costa
Orthokeratosis, Hyperkeratotic papule, Epidermal acanthosis, Palmoplantar hyperkeratosis ORPHA:38
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Eczema, Hyperkeratosis, Loose anagen hair, Long eyelashes, Sparse ... OMIM:607721
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... ORPHA:169090
Noonan Syndrome 7
Curly hair, Low posterior hairline OMIM:613706
Radio-Tartaglia Syndrome
Thick eyebrow, Striae distensae, Highly arched eyebrow, Long eyebrows, Synophrys, Low anterior ha... OMIM:619312
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Recurrent bacterial infections, Aplasia of the eccrine sweat gl... OMIM:300291
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Iga Pemphigus
Neutrophilic infiltration of the skin, Acantholysis, Pustule, Pruritus, Ulcerative colitis, Skin ... ORPHA:555905
Thyroid Dyshormonogenesis 1
Dry skin OMIM:274400
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis OMIM:147050
Smith-Kingsmore Syndrome
Curly hair OMIM:616638
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Trichiasis, Hyperkeratosis, Nail dysplasia, Trichodysplasia, Dry skin OMIM:601701
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Redundant skin, Abnormal eyelash morphology, Low posterior hairl... ORPHA:1340
Atopic Keratoconjunctivitis
Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Dry skin, Blepharitis ORPHA:163934
Tangier Disease
Dry skin, Nail dystrophy, Nail dysplasia OMIM:205400
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Noonan Syndrome 10
Sparse eyebrow, Curly hair, Hyperkeratosis, Palmoplantar cutis laxa OMIM:616564
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair, Palmoplantar keratoderma OMIM:611528
Trichohepatoneurodevelopmental Syndrome
Curly hair, Pruritus, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Recurrent panc... OMIM:618268
Noonan Syndrome 2
Curly hair, Sparse eyebrow, Low posterior hairline, Hyperkeratosis, Palmoplantar cutis laxa OMIM:605275
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Small nail, Dry skin OMIM:619075
Juvenile Dermatomyositis
Alopecia, Myositis, Pericarditis, Skin rash, Pruritus, Erythema, Skin ulcer, Arthritis, Dry skin ORPHA:93672
Noonan Syndrome 13
Highly arched eyebrow, Low posterior hairline, Recurrent otitis media, Dry skin, Generalized hirs... OMIM:619087
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Pruritus, Chronic hepatitis, Arthritis... ORPHA:3260
Peroxisome Biogenesis Disorder 14B
Dry skin OMIM:614920
Chops Syndrome
Curly hair, Thick hair, Synophrys, Coarse hair, Long eyelashes, Aspiration pneumonia, Thick eyebrow OMIM:616368
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections, Glomerulonephritis OMIM:613496
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... OMIM:234050
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Incontinentia Pigmenti
Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Keratitis, Erythema, Uveiti... OMIM:308300
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hair, Palmoplan... ORPHA:2710
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Arthritis, Eczemato... OMIM:259100
Agel Amyloidosis
Pruritus, Cutis laxa, Keratoconjunctivitis sicca, Nail dystrophy, Sparse hair, Dry skin ORPHA:85448
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Noonan Syndrome 4
Sparse eyebrow, Curly hair, High anterior hairline OMIM:610733
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin ORPHA:1035
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Dry skin ORPHA:3085
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Low anterior hairline, Horizontal eyebrow, High anterior hairline, Dry skin, Thick eyebrow OMIM:618797
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Dermal translucency, Slow-growing hair, Highly arched eyebrow, Low posterior hairline... OMIM:617506
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Keratolytic Winter Erythema
Pustule ORPHA:50943
Acrogeria
Excessive wrinkled skin, Skin ulcer, Fine hair ORPHA:2500
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair ORPHA:457485
Progeroid Syndrome, Petty Type
Brittle hair, Redundant skin, Abnormal hair morphology, Cutis laxa, Abnormality of the nail, Long... ORPHA:2963
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Keratoconjunctivitis sicca... ORPHA:1806
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Leukonychia, Skin ulcer, Pan... ORPHA:2526
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perianal erythema, Paronychia, Alopecia of scalp, Perioral erythema, Dry skin OMIM:201100
Immunodeficiency 10
Recurrent bacterial infections, Nail dysplasia, Recurrent infections OMIM:612783
Squalene Synthase Deficiency
Dry skin, Abnormality of hair pigmentation OMIM:618156
Congenital Disorder Of Glycosylation, Type Iil
Hyperkeratosis, Inflammation of the large intestine, Dry skin OMIM:614576
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Erythema, Rheumatoid arthritis ORPHA:79099
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma OMIM:617425
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Recurrent infections ORPHA:703
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Severe periodontitis, Re... ORPHA:678
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Recurrent skin infections, Sepsis OMIM:612840
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin OMIM:613990
Myoectodermal Gonadal Dysgenesis Syndrome
Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Frontal upsweep of hair, Scaling skin, ... OMIM:618419
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Proteasome-Associated Autoinflammatory Syndrome 2
Neutrophilic infiltration of the skin, Recurrent bacterial infections, Skin rash, Recurrent viral... OMIM:618048
Hereditary Mucoepithelial Dysplasia
Sparse hair, Hyperkeratosis, Alopecia, Fine hair ORPHA:1839
Eec Syndrome
Slow-growing hair, Sparse eyebrow, Keratitis, Nail pits, Fine hair, Inflammatory abnormality of t... ORPHA:1896
Ddost-Cdg
Dry skin ORPHA:300536
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infect... OMIM:601495
Proteus Syndrome
Hyperkeratosis, Epidermal acanthosis OMIM:176920
Chand Syndrome
Curly hair, Dry skin, Nail dysplasia ORPHA:1401
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Recurrent opportunistic infections, Recurrent pn... ORPHA:277
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Seborrheic dermatitis OMIM:614441
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Eczema, Dry skin, Abnormality of the nail ORPHA:428
9P13 Microdeletion Syndrome
Hyperconvex nail, Highly arched eyebrow, Hypoplastic toenails, Recurrent otitis media, Dry skin, ... ORPHA:324313
Weaver Syndrome
Deep-set nails, Abnormal fingernail morphology, Redundant skin, Thin nail, Hypoplastic toenails, ... ORPHA:3447
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Cranioectodermal Dysplasia 3
Short nail, Broad nail, Cutis laxa, Fine hair, Sparse hair, Dry skin OMIM:614099
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:222470
Trichohepatoenteric Syndrome 2
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:614602