Not currently registered for phenotyping at IMPC

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

Gene Summary

plakophilin 3

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Pkp3 mutations

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

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

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

The table below shows human diseases predicted to be associated to Pkp3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sp... OMIM:607903
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Allergic rhinitis, Absent facial h... ORPHA:90368
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Sparse pubic hair, Perifollicular hy... ORPHA:505
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Generalized keratosis follicula... ORPHA:2890
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis OMIM:617756
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... OMIM:618546
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythem... ORPHA:346
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera... ORPHA:2722
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... OMIM:158000
Bathing Suit Ichthyosis
Alopecia, Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis, Hypohidrosis, Ichthyosis, P... ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital ichthyosiform erythr... OMIM:242300
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy... OMIM:615821
Erythrokeratodermia Variabilis
Alopecia, Skin rash, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Weig... ORPHA:317
Erosive Pustular Dermatosis Of The Scalp
Pustule, Scarring alopecia of scalp, Erythema, Abnormal hair morphology ORPHA:222
Netherton Syndrome
Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Allergic rhinitis, Ecz... OMIM:256500
Classic Mycosis Fungoides
Alopecia, Skin rash, Eczema, Pruritus, Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Hyper... ORPHA:2584
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... OMIM:619208
Kerion Celsi
Recurrent cutaneous abscess formation, Alopecia, Inflammatory abnormality of the skin, Recurrent ... ORPHA:499
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hypohidros... OMIM:602400
Moynahan Syndrome
Sparse hair, Hyperkeratosis, Alopecia, Cachexia ORPHA:2574
Anonychia With Flexural Pigmentation
Macular telangiectasia, Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular h... ORPHA:69125
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Palmoplantar keratoderma, Hypertrichosis OMIM:617524
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Palmoplantar hyperkeratosis,... ORPHA:79395
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Hair-nail ectodermal dysplasia, Absent eyelashes, Onychol... OMIM:602032
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism ORPHA:2297
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N... OMIM:212360
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... OMIM:129500
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti ORPHA:1573
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital b... OMIM:607602
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... OMIM:601952
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy... OMIM:300918
Ulerythema Ophryogenesis
Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat... ORPHA:3406
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Hyperkeratosis, Coarse hair, Sparse hair, Hidrotic ectodermal dysplasia ORPHA:1883
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering... ORPHA:158681
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections, Abnormal hair morphology ORPHA:345
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy OMIM:616487
Peeling Skin Syndrome 3
Pruritus, Erythema, Abnormal hair morphology, White scaling skin OMIM:616265
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa... OMIM:617294
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Perifolliculitis, Alopecia of scalp OMIM:260910
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Bazex Syndrome
Parakeratosis, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, ... ORPHA:166113
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Pruritus, Hypohidrosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma, ... ORPHA:79394
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair, Cutaneous photosensitivity OMIM:234030
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Atrichia With Papular Lesions
Sparse hair, Generalized papillary lesions OMIM:209500
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Hair-nail ectodermal dysplasia, Thin toenail, Sparse hair, Dystrophic toenail OMIM:614928
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Parana Hard Skin Syndrome
Hyperkeratosis, Generalized hirsutism, Thickened skin ORPHA:2812
Trichothiodystrophy 6, Nonphotosensitive
Brittle hair, Small for gestational age, Slow-growing hair, Ichthyosis, Tiger tail banding, Dry skin OMIM:616943
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I... ORPHA:79503
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Pruritus, Sparse eyebrow, Splenomegaly, Ja... OMIM:607626
Ichthyosis-Hypotrichosis Syndrome
Sparse hair, Ichthyosis ORPHA:91132
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Peeling Skin Syndrome 1
Brittle hair, Pruritus, Onycholysis, Nail dystrophy, Palmoplantar hyperhidrosis, Erythroderma, Sc... OMIM:270300
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Ichthyosis With Confetti
Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Hypoplastic nipples, Congenital nonbullous ich... OMIM:609165
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Pruritus, Dermatographic urticaria, Generalized ichthyosis, Follicular hyperke... OMIM:608649
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Small for gestational age, Fine hair, Telangiectasia, Hyperkeratosis... OMIM:601675
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Plantar hyperkeratosis, Cutaneous photosensitivity, Skin fragility with non-scarring bl... ORPHA:79397
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi... ORPHA:89838
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Ectodermal dysplasia, Thin eyebrow OMIM:617392
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis, Nail dystrophy OMIM:175900
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair, Palmoplantar keratoderma OMIM:610476
Lamellar Ichthyosis
Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Sparse hair, Erythroderma, Chronic... ORPHA:313
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Hair-nail ectodermal dysplasia, Abno... OMIM:614929
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Brittle hair, Prematurely aged appearance, Redundant skin, A... ORPHA:2963
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Erythema, Oligoarthritis, Nail dyst... OMIM:614204
Ichthyosis, Congenital, Autosomal Recessive 2
Anhidrosis, Alopecia, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, Hypohidrosi... OMIM:242100
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Urticaria, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis ... ORPHA:2251
Trichohepatoenteric Syndrome 2
Brittle hair, Small for gestational age, Chronic hepatitis, Colitis, Uncombable hair, Sparse hair... OMIM:614602
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
L-Ferritin Deficiency
Alopecia OMIM:615604
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythem... OMIM:612843
Sézary Syndrome
Alopecia, Pruritus, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma, Nail dystrophy, Eryt... ORPHA:3162
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery... ORPHA:64745
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... ORPHA:79151
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent bacterial skin infections, Plantar hyperkeratosis, Hyperconvex nail, Angular cheilitis,... ORPHA:495
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Failure to thrive, Alopecia, Brittle hair ORPHA:50812
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Nail dystrophy OMIM:131850
Vulvovaginal Gingival Syndrome
Pruritus, Ridged nail, Parakeratosis, Erythema ORPHA:83453
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Ectodermal dysplasia, Atrichia, Nail dystrophy, Nail dysplasia, S... OMIM:614931
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Skin fragility with non-scarring blistering, Na... ORPHA:79399
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythema, Follicu... OMIM:308800
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Sparse hair, Widow's peak, Atopic dermatitis, Thick eyebrow OMIM:606242
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Sparse eyebrow, Re... OMIM:300953
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers... ORPHA:1008
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Sparse hair, Nail dystrophy, Recurre... OMIM:618625
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Ectodermal dysplasia, Palmoplantar k... OMIM:224750
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Alopecia totalis, Abnormality of the nail OMIM:302000
Netherton Syndrome
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology,... ORPHA:634
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Odontoonychodermal Dysplasia
Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Hyperhidrosis, Dystrophic fingernails, Thin n... OMIM:257980
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Ectoderm... OMIM:613573
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant... OMIM:605676
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Hypohidrosis, Palmoplan... OMIM:618535
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke... OMIM:615225
Ectodermal Dysplasia-Syndactyly Syndrome 2
Hyperhidrosis, Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkeratosis, Congeni... OMIM:613576
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Concave nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, ... ORPHA:530838
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Recurrent loss of toenails and fingernails, Crusting erythematous dermatitis, Erythema, Palmoplan... ORPHA:158673
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lack of faci... ORPHA:90156
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Prolidase Deficiency
Abnormal fingernail morphology, Pruritus, Splenomegaly, Crusting erythematous dermatitis, Low ant... ORPHA:742
Bjornstad Syndrome
Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular int... OMIM:262000
Ectodermal dysplasia, Generalized hypotrichosis OMIM:207780
Alopecia-Intellectual Disability Syndrome 4
Ichthyosis, Alopecia, Erythroderma OMIM:618840
Schöpf-Schulz-Passarge Syndrome
Alopecia, Ectodermal dysplasia, Palmoplantar keratoderma, Facial telangiectasia, Sparse hair, Apl... ORPHA:50944
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... OMIM:615508
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor... ORPHA:494
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair, Ectodermal dysplasia ORPHA:401911
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia, Alopecia of scalp OMIM:136300
Porphyria Cutanea Tarda
Alopecia, Onycholysis, Facial hypertrichosis, Scleroderma, Cutaneous photosensitivity, Fragile skin OMIM:176100
Carvajal Syndrome
Woolly hair, Patchy palmoplantar hyperkeratosis ORPHA:65282
Trichothiodystrophy 3, Photosensitive
Brittle hair, Congenital ichthyosiform erythroderma, Cutaneous photosensitivity, Congenital nonbu... OMIM:616395
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... ORPHA:2897
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No... ORPHA:87503
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno... ORPHA:248
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Cachexia, Abnormal hair morphology, Thickened skin, Lack of ... ORPHA:1979
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Keratoconjunctivitis s... OMIM:234050
Menkes Disease
Sparse hair, Alopecia, Brittle hair, Cutis laxa OMIM:309400
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Patchy alopecia, Thickened skin OMIM:247100
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis, Onycho... ORPHA:525
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Anhidrosis, Absent eyelashes, Palmoplantar hyperkeratosis, Ectodermal dysplasia, ... OMIM:604536
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Hypohidrotic ectodermal dysplasia, Sparse ... OMIM:614940
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... ORPHA:454
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Ichthyosis, Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Sparse hair, Failur... OMIM:242150
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Anhidrosis, Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Palmo... ORPHA:659
Omenn Syndrome
Alopecia, Pneumonia, Pruritus, Thickened skin, Splenomegaly, Thyroiditis, Dry skin, Lymphadenopat... ORPHA:39041
Cortisone Reductase Deficiency 1
Alopecia, Acne, Obesity, Hirsutism OMIM:604931
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Myositis, Failure to thrive, Skin rash, Cutis marmorata, Follicula... OMIM:615934
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Tooth Agenesis, Selective, 8
Sparse eyebrow, Dry skin, Sparse hair OMIM:617073
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... OMIM:616099
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Acrokeratosis Verruciformis
Ridged nail, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Acrokeratosis OMIM:101900
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Ectode... OMIM:129490
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern... ORPHA:79147
Oliver-Mcfarlane Syndrome
Alopecia, Small for gestational age, Long eyebrows, Long eyelashes, Sparse hair OMIM:275400
Naxos Disease
Sparse scalp hair, Curly hair, Abnormality of hair texture, Hyperhidrosis, Palmoplantar keratoder... ORPHA:34217
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... OMIM:261900
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... OMIM:117850
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Hyperhidrosis, Perioral erythema, Ichthyosis, Frag... OMIM:248300
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... ORPHA:129
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Brittle hair, Nail dystrophy ORPHA:75389
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Co... OMIM:612281
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Cronkhite-Canada Syndrome
Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomegaly, Dystrophi... ORPHA:2930
Keratosis Pilaris Atrophicans
Absent eyelashes, Erythema, Sparse eyebrow OMIM:604093
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
Pachyonychia Congenita
Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp... ORPHA:2309
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C... OMIM:219200
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu... OMIM:613102
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... ORPHA:79153
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... OMIM:617571
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Palmoplantar keratoderma,... ORPHA:3353
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Erythema, Cheilitis, Ski... ORPHA:37
Atrophoderma Vermiculata
Pruritus, Erythema, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Failure to thrive in infancy, Redundant skin, Abnormal eyelash m... ORPHA:1340
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia, Erysipelas OMIM:615704
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis ORPHA:735
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Nail dystrophy, Ichthyosis, Sparse hair, Tiger tail banding OMIM:619692
Darier Disease
Acrokeratosis, Pruritus, Abnormal hair morphology, Thickened skin, Palmoplantar keratoderma, Skin... ORPHA:218
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy ORPHA:89843
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Sparse hair, Alopecia, Long eyelashes, Small for gestational age ORPHA:3363
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythrode... ORPHA:312
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Obesity ORPHA:85274
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Failure to thrive OMIM:617988
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dystrophy, Anonychia, Sparse body hair ORPHA:79402
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Copper Deficiency, Familial Benign
Curly hair, Failure to thrive, Early balding, Seborrheic dermatitis OMIM:121270
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Bazex-Dupre-Christol Syndrome
Eczema, Trichorrhexis nodosa, Atopic dermatitis, Hypohidrosis, Coarse hair, Sparse hair, Trichoep... OMIM:301845
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Brittle hair, Cutis marmorata, Pancreatitis OMIM:236200
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... ORPHA:1818
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Anhidrosis, Brittle hair, Absent nipple, Eczema, Sparse eyelashes, Concave nail, ... OMIM:305100
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Decreased body weight, Sparse hair, F... ORPHA:2985
Incontinentia Pigmenti
Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Keratitis, Erythema, Uveiti... OMIM:308300
Epidermolysis Bullosa, Junctional 1A, Intermediate
Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails, Palmar hyperhidrosis OMIM:226650
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow OMIM:617412
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Thickened skin, Fine hair, Lymphadenopathy... ORPHA:2221
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... OMIM:617526
Ifap Syndrome 2
Ichthyosis follicularis, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctiviti... OMIM:619016
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Dry skin, Hyper... OMIM:610768
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis, Lack of skin elasticity ORPHA:1366
Pachyonychia Congenita 2
Sparse scalp hair, Subungual hyperkeratosis, Dry hair, Angular cheilitis, Sparse eyebrow, Palmopl... OMIM:167210
Ramon Syndrome
Hyperkeratosis, Failure to thrive, Telangiectasia of the skin, Generalized hirsutism ORPHA:3019
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Flynn-Aird Syndrome
Alopecia, Skin ulcer, Cachexia ORPHA:2047
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Hypohidrosis, Dystrophic fingernails, Dys... ORPHA:1882
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Fibrodysplasia Ossificans Progressiva
Alopecia, Failure to thrive ORPHA:337
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s... OMIM:617337
Focal Facial Dermal Dysplasia 3, Setleis Type
Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis OMIM:227260
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Hereditary Mucoepithelial Dysplasia
Sparse hair, Hyperkeratosis, Alopecia, Fine hair ORPHA:1839
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Leuko... OMIM:616295
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Dry skin, Cutis laxa, Hyperkeratosis, Ichthyosis, Failure to thrive, Hypertrichosis OMIM:612379
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Eczema, Hypohidrosis, Sparse hair, Sparse body hair ORPHA:1810
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronch... OMIM:618282
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Ichthyosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Enlarged tonsils, Thyroiditis, Ery... OMIM:606367
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Decreased adipose tissue around neck, Brittle hair, Prominent superficial veins, Proger... OMIM:608612
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Generalized... ORPHA:2269
Complex Regional Pain Syndrome
Dry skin, Abnormality of hair growth, Slow-growing nails, Erythema ORPHA:83452
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Sparse hair, Failure to thrive, Fine hair ORPHA:2118
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sclerodactyly, Poor wound heali... ORPHA:1010
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... OMIM:604777
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta... ORPHA:330058
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Ichthyosis, ... ORPHA:35173
Omenn Syndrome
Alopecia, Pneumonia, Splenomegaly, Thickened skin, Lymphadenopathy, Hypoplasia of the thymus, Ery... OMIM:603554
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive, Sparse body hair ORPHA:261483
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Cachexia, Thin eyebrow ORPHA:3242
Tetrasomy 12P
Sparse hair, Cachexia, Sparse eyebrow, Hypohidrosis ORPHA:884
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Alopecia, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosu... OMIM:616576
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Glomerulonephritis, Eczema, Hepatitis, Lymphadenopathy, Arthritis, Erythroderma, Failur... OMIM:304790
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Trichothiodystrophy 2, Photosensitive
Coarse hair, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Tiger tail banding, Cu... OMIM:616390
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Hyperhidrosis, Orthokeratotic hyperke... OMIM:148700
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow ORPHA:79133
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin OMIM:602723
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant... OMIM:194300
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Abnormality... ORPHA:47
Neonatal Lupus Erythematosus
Parakeratosis, Skin rash, Maculopapular exanthema, Splenomegaly, Hyperkeratosis, Cutaneous photos... ORPHA:398124
Systemic Lupus Erythematosus 17
Alopecia, Malar rash, Optic neuritis, Myelitis OMIM:301080
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Parakeratosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Small n... OMIM:308050
Sparse scalp hair, Hypohidrosis, Ectodermal dysplasia, Fingernail dysplasia, Trichodysplasia, Dry... ORPHA:1660
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Anhidrosis, Dystrophic toenail, Palmoplantar hyperkeratosis OMIM:619209
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Psoriasiform lesion, Hepatosplenomegaly, Lymphadenopathy, Erythroderma, Failure to thrive ORPHA:169154
Alpha-Heavy Chain Disease
Splenomegaly, Alopecia, Lymphadenopathy ORPHA:100025
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Cachexia, Dry skin, Fine hair, Sparse or absent eyelashes, Nail dysplasia, ... ORPHA:217346
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair OMIM:618810
Noonan Syndrome 8
Curly hair, Eczema, Large for gestational age, Patent ductus arteriosus, Hyperkeratosis, Palmopla... OMIM:615355
Heyn-Sproul-Jackson Syndrome
Sparse hair, Decreased body weight OMIM:618724
Coffin-Siris Syndrome 8
Sparse scalp hair, Eczema, Long eyelashes, Failure to thrive, Thick eyebrow, Hypertrichosis OMIM:618362
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Dry skin, Hypohidrosis, Aplasia/Hyp... ORPHA:238468
Porphyria Cutanea Tarda, Type I
Fragile skin, Eczema, Hypertrichosis OMIM:176090
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk... ORPHA:498359
Nicolaides-Baraitser Syndrome
Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Excessive wrinkl... ORPHA:3051
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Sjögren-Larsson Syndrome
Erythema, Urticaria, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormality of the eye ORPHA:816
Ridged nail, Congenital exfoliative erythroderma, Sparse scalp hair, Brittle hair, Split nail, Ec... ORPHA:33364
Trichothiodystrophy 8, Nonphotosensitive
Eczema, Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:619691
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... ORPHA:2228
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hypohidrosis, Hyperkeratosis, On... ORPHA:1028
Cutaneous Mastocytoma
Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Thickened skin, Angioedema, Erythe... ORPHA:79455
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Acne, Dorsocervical fat pad, Increased body weight, Bruising susceptibility, Fragile sk... OMIM:615830
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair, Failure to thrive, Hyperhidrosis OMIM:615279
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis OMIM:617574
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair, Palmoplantar keratoderma OMIM:611528
Dermatitis, Atopic
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Facial erythem... OMIM:603165
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Generalized hirsutism, Cachexia ORPHA:1933
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Brittle hair, Nail dystrophy ORPHA:93947
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma ORPHA:316
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Tubulointerstitial nephritis, Colitis, Alopecia, Psoriasiform dermatitis, Hepatitis, Ly... ORPHA:37042
Aredyld Syndrome
Splenomegaly, Cachexia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1133
Abnormal hair quantity, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnormal hair patter... ORPHA:2796
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis OMIM:609638
Incontinentia Pigmenti
Alopecia, Skin rash, Abnormal fingernail morphology, Supernumerary nipple, Telangiectasia of the ... ORPHA:464
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Pustule, Paronychia, Perioral erythema, Erythroderma, Failure to thrive, Bleph... OMIM:614328
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Lipoid Proteinosis
Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp ORPHA:530
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Rhizomelic Chondrodysplasia Punctata
Alopecia, Dry skin, Sparse body hair, Ichthyosis ORPHA:177
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Membranoproliferative glomerulonep... OMIM:137940
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Splenomegaly, Ja... ORPHA:59303
Naxos Disease
Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... OMIM:601214
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule ORPHA:464318
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Gastritis, Small for gestational age, Splenomegaly, Paten... ORPHA:84064
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Skin ulcer, Fine hair, Hypohidrosis, Hyperkeratosis, Keratoconjun... ORPHA:1806
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia, Ichthyosis OMIM:242510
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Cutis marmorata, Absent eyel... ORPHA:69735
Rhizomelic Chondrodysplasia Punctata, Type 1
Severe failure to thrive, Alopecia, Ichthyosis OMIM:215100
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperhidrosis, Palmoplantar hyperker... OMIM:615598
Chronic Mucocutaneous Candidiasis
Skin rash, Abnormal fingernail morphology, Pruritus, Erythema, Cheilitis, Hepatitis, Broad nail, ... ORPHA:1334
Leopard Syndrome 3
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Dry skin OMIM:613707
Mcdonough Syndrome
Synophrys, Cachexia ORPHA:2471
Keratitis, Pruritus, Hyperparakeratosis, Vascular skin abnormality, Hyperkeratosis, Keratoconjunc... ORPHA:182
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Small for gestational age, Failure to thrive in infancy, Fine hair, Sparse hair OMIM:618891
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Abnormal ... ORPHA:678
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Small for gestational age, Splenomegaly, Jaundice, Fine hair, Sparse ha... OMIM:222470
Epidermolytic Palmoplantar Keratoderma
Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar h... ORPHA:2199
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Absent peripheral lymph nodes in presence of infection, Chronic mucocutaneous candidiasis... ORPHA:98813
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Alopecia, Telangiectasia of the skin, Pruritus, Erythema, Skin... ORPHA:93672
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splen... OMIM:615559
Holocarboxylase Synthetase Deficiency
Alopecia, Eczema, Weight loss, Keratoconjunctivitis, Perioral eczema ORPHA:79242
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc... ORPHA:90158
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Palmoplan... ORPHA:2710
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Ichthyosis, Orthokeratosis OMIM:607936
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Telangiectasia, Livedo, Onycholysis, Nail dystrophy, Facial ... OMIM:614564
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Recurrent skin infections, Erythema, Palmoplantar keratoderma, Nail dystrophy, Failure ... ORPHA:79396
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Cutaneous photosensitivity ORPHA:1336
Lelis Syndrome
Yellow nails, Acanthosis nigricans, Absent lower eyelashes, Palmoplantar hyperkeratosis, Hypohidr... ORPHA:140936
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Alopecia, Dry skin, Palmoplantar keratoderma, Nail dystrophy, Scalin... OMIM:618373
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Urticaria, Purpura ORPHA:889
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor... ORPHA:294023
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat... ORPHA:83617
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Argininosuccinic Aciduria
Failure to thrive, Dry hair, Brittle hair, Trichorrhexis nodosa OMIM:207900
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Ectodermal dysplasia OMIM:273390
Bullous Impetigo
Recurrent bacterial skin infections, Pustule, Erythema, Abnormality of the lymphatic system, Sept... ORPHA:36237
Mucoepithelial Dysplasia, Hereditary
Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis... OMIM:158310
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Arthritis, Patchy alopecia, Iritis OMIM:109650
Kid Syndrome
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... ORPHA:477
Intellectual Developmental Disorder, Autosomal Recessive 5
Small for gestational age, Eczema, Synophrys, Sparse hair, Thick eyebrow OMIM:611091
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Hypohidrosis, P... ORPHA:158668
Jessner Lymphocytic Infiltration Of The Skin
Pruritus, Cutaneous photosensitivity, Erythema ORPHA:33314
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Congenital ichthyosiform erythroderma, Patchy alopecia, Congeni... OMIM:302960
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo... ORPHA:158687
Gand Syndrome
Sparse hair OMIM:615074
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema ORPHA:90160
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i... ORPHA:90159
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Highly arched eyebrow, Prematurely... ORPHA:1807
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Cutis marmorata, Recurrent pneumonia, Bronchiectasis, Hypohidrosis,... OMIM:301220
Christianson Syndrome
Cachexia, Thick eyebrow ORPHA:85278
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair OMIM:619184
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Hypohidrosis, Ectodermal... ORPHA:3253
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Sparse facial hair, Absent facial hair, Low posterior hairline ORPHA:2183
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Palmoplantar hyperkeratosis, Hyperhidrosis, Sparse ... OMIM:615280
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma OMIM:133200
Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Fine hair, Excessive wrinkle... ORPHA:2500
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Alopecia, Nail dystrophy, Nail dysplasia OMIM:175500
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis, Eczema OMIM:617443
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Brittle hair OMIM:616084
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Pneumonia, Nail dystrophy, Atrichia, Acrocyanosis ORPHA:1867
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Skin ulcer,... ORPHA:90280
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Hypohidrosis ORPHA:181
Kikuchi-Fujimoto Disease
Alopecia, Generalized lymphadenopathy, Skin rash, Pruritus, Myocarditis, Pustule, Cervical lympha... ORPHA:50918
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin OMIM:618527
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Hyperkeratosis, Thickened skin ORPHA:1659
Dermatopathia Pigmentosa Reticularis
Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis, Hypohidrosis OMIM:125595
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Skin rash, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Low posteri... OMIM:604173
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Hypohidrosis, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail morphology ORPHA:1005
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Anhidrotic ectodermal ... OMIM:129400
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Hypomelanosis Of Ito
Alopecia OMIM:300337
Keratolytic Winter Erythema
Pustule, Erythema, Hyperhidrosis ORPHA:50943
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Perianal erythema, Splenomegaly, Paronychia, Dry skin, Perioral erythema, Alop... OMIM:201100
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Acral Peeling Skin Syndrome
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin ORPHA:263534
Zinc Deficiency, Transient Neonatal
Alopecia, Eczema OMIM:608118
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Abs... OMIM:148210
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Hyperhidrosis, Fine hair, Long eyelashes, High anterior hairline ORPHA:231137
Biotinidase Deficiency
Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunctivitis OMIM:253260
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis... ORPHA:280779
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Small for gestational age, Sparse facial hair, Sparse axillary hair, Progeroid facial appearance,... OMIM:608154
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Filippi Syndrome
Sparse hair, Frontal hirsutism, Decreased body weight, Hypertrichosis OMIM:272440
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Eczema, Pustule, Erythema, Palmoplantar hyperkeratosis, Keratoconjunc... ORPHA:2907
Costello Syndrome
Deep-set nails, Abnormal fingernail morphology, Failure to thrive in infancy, Redundant skin, Con... ORPHA:3071
X-Linked Intellectual Disability, Cabezas Type
Abnormal hair pattern, Cachexia, Synophrys, Obesity, Hyperhidrosis, Acanthosis nigricans ORPHA:85293
Xeroderma Pigmentosum
Conjunctival telangiectasia, Alopecia, Telangiectasia of the skin, Keratitis, Thickened skin, Ery... ORPHA:910
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Pituitary Adenoma 4, Acth-Secreting
Striae distensae, Poor wound healing, Obesity, Facial erythema, Abdominal obesity, Ecchymosis, Br... OMIM:219090
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Alopecia OMIM:612079
Ichthyosis, Congenital, Autosomal Recessive 7
Ichthyosis, Palmoplantar keratoderma, Hypergranulosis, Erythroderma OMIM:615022
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Epidermolytic Hyperkeratosis 1
Congenital bullous ichthyosiform erythroderma, Scaling skin, Palmoplantar hyperkeratosis, Erythro... OMIM:113800
Sulfite Oxidase Deficiency, Isolated
Eczema, Fine hair OMIM:272300
Maculopapular Cutaneous Mastocytosis
Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flu... ORPHA:79457
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Ectodermal dysplasia, Atrichia, Periungual erythema, Scaling skin, Dystr... OMIM:308205
Diffuse Cutaneous Mastocytosis
Pruritus, Thickened skin, Abnormality of the spleen, Lymphadenopathy, Darier's sign, Urticaria, D... ORPHA:79456
Mixed Connective Tissue Disease
Myositis, Pericarditis, Skin rash, Gastritis, Alopecia, Myocarditis, Mediastinal lymphadenopathy,... ORPHA:809
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Hypohidrosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, ... OMIM:615023
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey... ORPHA:2273
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair OMIM:607812
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Bone marrow hypocellularity, Nail dystrophy, Sparse hair, Failure to thrive OMIM:616353
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Weaver Syndrome
Deep-set nails, Abnormal fingernail morphology, Thin nail, Redundant skin, Hypoplastic toenails, ... ORPHA:3447
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Sparse scalp hair ORPHA:2611
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:1006
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Even-Plus Syndrome
Sparse hair, Synophrys, Atopic dermatitis, Highly arched eyebrow OMIM:616854
Immunodeficiency 7
Splenomegaly, Lymphadenopathy, Patchy alopecia, Chronic oral candidiasis, Recurrent otitis media,... OMIM:615387
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Lymphadenitis, Splenomegaly, Lymphadenopathy, Inflammation of the large intestine, Nail d... OMIM:615895
Ichthyosis, Congenital, Autosomal Recessive 3
Anhidrosis, Erythema, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullo... OMIM:606545
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patent ductus arterio... OMIM:106260
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Monosomy 22
Aplasia of the thymus, Seborrheic dermatitis, Thickened skin, Synophrys, Hyperhidrosis, Hepatospl... ORPHA:96123
Localized Scleroderma
Fasciitis, Abnormal skin adnexa morphology, Thickened skin, Erythema, Uveitis, Arthritis, Patchy ... ORPHA:90289
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo... OMIM:614457
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Recurrent pneumonia, Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatiti... OMIM:147060
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,... OMIM:614941
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Dry skin, Urticaria, Ichthyosis, Failure to thrive ORPHA:1954
Lig4 Syndrome
Telangiectasia of the skin, Erythema, Low anterior hairline, Lymphadenopathy, Cutaneous photosens... ORPHA:99812
Vibratory Urticaria
Urticaria, Facial erythema, Flushing OMIM:125630
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Failure to thrive, Seborrheic dermatitis OMIM:210210
Congenital Disorder Of Glycosylation, Type If
Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive OMIM:609180
Pachyonychia Congenita 1
Follicular hyperkeratosis, Nail dystrophy, Onychogryposis, Palmoplantar hyperkeratosis OMIM:167200
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Hyperkeratosis with erythema, Coarse hair OMIM:118650
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Acne, Hirsutism OMIM:612847
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Dry skin, Acanthosis nigricans OMIM:268020
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Bronchiectasis, Facial erythema, Arthritis, Vasculitis in the ski... OMIM:620321
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Anonychia, Nail dystrophy, Palmoplantar keratoderma OMIM:616029
Marshall-Smith Syndrome
Brittle hair, Highly arched eyebrow, Synophrys, Patent ductus arteriosus, Aspiration pneumonia, D... OMIM:602535
Chime Syndrome
Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Ichthyosis, Sparse hair ORPHA:3474
Adams-Oliver Syndrome 2
Alopecia, Cutis marmorata, Low anterior hairline, Small nail OMIM:614219
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, P... OMIM:607823
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Hypohidrosis, Sparse hair, Failure to thrive ORPHA:2316
Cerebrooculofacioskeletal Syndrome 2
Sparse hair, Cutaneous photosensitivity, Small for gestational age OMIM:610756
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Sparse eyebrow OMIM:619989
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow OMIM:616819
Rodrigues Blindness
Sparse hair, Ectodermal dysplasia, Fine hair OMIM:268320
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:613943
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema, Colitis OMIM:219095
Mucolipidosis Ii Alpha/Beta
Brittle hair, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Sparse hair, Recurrent otitis me... OMIM:252500
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia ORPHA:88630
Anauxetic Dysplasia 2
Sparse hair, Nail dysplasia, Small nail OMIM:617396
Familial Peripheral Male-Limited Precocious Puberty
Abnormal hair morphology, Acne ORPHA:3000
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Pruritus, Erythema, Lymphadenopathy OMIM:254400
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Coarse hair, Sparse hair, Chronic otitis media, Dry skin ORPHA:2750
Harlequin Ichthyosis
Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma ORPHA:457
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Hypohidrotic ectodermal dysplasia, Pe... OMIM:224900
Craniofrontonasal Dysplasia
Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair ORPHA:1520
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Abnormal fingernail morphology, Pruritus, Gastrointestinal inflammation, Hyperkeratotic papule, P... ORPHA:79410
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Splenomegaly, L... OMIM:602450
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Leukonychia, Palmoplantar hyperkeratosis ORPHA:2698
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Prominent superficial veins, Small for gestational age, Fine hair OMIM:616817
Chanarin-Dorfman Syndrome
Alopecia, Congenital nonbullous ichthyosiform erythroderma OMIM:275630
Blepharocheilodontic Syndrome 1
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis OMIM:119580
Rothmund-Thomson Syndrome Type 2
Plantar hyperkeratosis, Porokeratosis, Small for gestational age, Alopecia totalis, Erythema, Fac... ORPHA:221016
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality of the nail ORPHA:254478
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Myocarditis, Angioedema, Erythema, Hepatitis, Thyroiditis, Lymphadenopathy, W... ORPHA:139402
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Lessel-Kubisch Syndrome
Sparse pubic hair, Premature graying of hair OMIM:618681
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
Macs Syndrome
Alopecia, Redundant skin, Sparse eyebrow, Bronchiectasis, Cutis laxa, Recurrent aphthous stomatit... OMIM:613075
Vulto-Van Silfhout-De Vries Syndrome
Widow's peak, Horizontal eyebrow, Fine hair OMIM:615828
Necrobiosis Lipoidica