Gene Summary

Name:
keratin 76
Synonyms:
2310001L23Rik

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.

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 50% (1 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Histopathology

Images

9 Images

Legacy Phenotype Associated Images

View all 161 images

Human diseases caused by Krt76 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 Krt76 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis OMIM:615327
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Pruritus OMIM:146750
Hypotrichosis 15
Sparse scalp hair OMIM:620177
Hypotrichosis 1
Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S... OMIM:605389
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Keratosis, Focal Palmoplantar And Gingival
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Perioral hyperkeratosis,... OMIM:613000
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Hypotrichosis 10
Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:614238
Hyperkeratosis-Hyperpigmentation Syndrome
Irregular hyperpigmentation, Hyperkeratosis, Multiple cafe-au-lait spots ORPHA:1336
Hypotrichosis 2
Abnormality of the nail, Sparse scalp hair OMIM:146520
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis OMIM:617574
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome
Palmoplantar keratoderma, Ichthyosis ORPHA:281201
Palmoplantar Keratoderma, Punctate Type Ii
Porokeratosis, Spinous keratoses of palms and soles OMIM:175860
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis, Pruritus ORPHA:735
Ichthyosis, Congenital, Autosomal Recessive 10
Generalized ichthyosis, Hyperkeratosis, Erythroderma, Orthokeratotic hyperkeratosis, Congenital n... OMIM:615024
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Generalized hyperkeratosis, Hyperkeratosis, Erythroderma, Cobblestone-like hyperkeratosis, Congen... OMIM:620150
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Pruritus, Spotty hyperpigmentation, Hyper... ORPHA:79147
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation, Hyperkeratosis ORPHA:315
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Hyperpigmentation of the skin, Generalized hypopigmentation, Spotty hyperpigmentat... ORPHA:158681
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Orthokerat... OMIM:604117
Acne Inversa, Familial, 3
Recurrent cutaneous abscess formation, Acne inversa, Chronic furunculosis, Perifolliculitis OMIM:613737
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in flexural areas, Congenital ... OMIM:601952
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Hyperkeratosis, Cafe-au-l... OMIM:145250
Acanthosis Nigricans
Acanthosis nigricans OMIM:100600
Porokeratosis 6, Multiple Types
Porokeratosis OMIM:612353
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Porokeratosis 9, Multiple Types
Porokeratosis OMIM:616631
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Porokeratosis, Pruritus, Palmoplantar hyperkeratosis ORPHA:737
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Insulin-Resistance Syndrome Type A
Generalized hyperpigmentation, Hyperkeratosis ORPHA:2297
Olmsted Syndrome, X-Linked
Parakeratosis, Subungual hyperkeratosis, Hyperkeratosis, Blepharitis, Posterior blepharitis, Palm... OMIM:300918
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi, Brittle hair OMIM:617252
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis OMIM:602723
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Hyperkeratosis, Mixed hypo- and hyperpigmentation of the skin, Spotty hypo... ORPHA:79399
Angioma Serpiginosum, X-Linked
Nail dystrophy, Fine hair, Sparse hair OMIM:300652
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Peeling Skin Syndrome 6
Parakeratosis, Orthokeratosis, Pruritus, Atopic dermatitis OMIM:618084
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Pityriasis Rubra Pilaris
Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis OMIM:173200
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess fo... OMIM:613736
Alopecia Universalis Congenita
Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis OMIM:203655
Ichthyosis With Erythrokeratoderma
Parakeratosis, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Ery... OMIM:620507
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Alopecia ORPHA:505
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Hyperkeratosis, Ichthyosis, Diffuse palmoplantar hyperkeratosis ORPHA:79503
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia OMIM:610753
Trichodysplasia-Xeroderma Syndrome
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb... ORPHA:3361
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai... ORPHA:2722
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair OMIM:234030
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Monilethrix
Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia OMIM:158000
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Marie Unna Hereditary Hypotrichosis
Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al... ORPHA:444
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Erythroderma, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar kerat... OMIM:604777
Uncombable Hair Syndrome 1
Uncombable hair, Pili canaliculi, Dry hair OMIM:191480
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr... ORPHA:79395
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Erythroderma, Congenital nonbullous ichthy... OMIM:612281
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Nail dystrophy, Onychogryposis of toenails, Abnormality of the nail, Abnormal hair morphology, Sp... ORPHA:1808
Tylosis With Esophageal Cancer
Parakeratosis, Follicular hyperkeratosis, Diffuse palmoplantar hyperkeratosis OMIM:148500
Olmsted Syndrome 2
Parakeratosis, Cheilitis, Perioral hyperkeratosis, Hyperkeratosis, Palmoplantar hyperkeratosis, P... OMIM:619208
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Pityriasis Rubra Pilaris
Irregular hyperpigmentation, Ichthyosis, Erythroderma, Eczematoid dermatitis, Thickened skin, Pus... ORPHA:2897
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Hypotrichosis 7
Brittle hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse scalp hair, Woolly... OMIM:604379
Bazex Syndrome
Parakeratosis, Acanthosis nigricans, Lip hyperpigmentation, Hyperkeratosis, Palmoplantar keratode... ORPHA:166113
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis OMIM:133200
Anonychia With Flexural Pigmentation
Hyperkeratosis, Hypermelanotic macule, Axillary and groin hyperpigmentation and hypopigmentation,... ORPHA:69125
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Hypotrichosis Simplex Of The Scalp
Parakeratosis, Hyperkeratosis, Atopic dermatitis, Allergic rhinitis, Pruritus ORPHA:90368
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, ... OMIM:617571
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Abnormality of the nail, Sparse scalp hair, Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Palmoplantar Keratoderma, Epidermolytic, 2
Curly hair OMIM:620411
Alopecia Areata 1
Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis OMIM:104000
Sabinas Brittle Hair Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair OMIM:211390
Intellectual Developmental Disorder, Fra12A Type
Erythroderma, Hyperkeratosis OMIM:136630
Aredyld
Generalized hypotrichosis OMIM:207780
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Sparse body hair, Alopecia OMIM:617294
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Palmar pruritus, Pruritus on foot, Eczematoid dermatitis, Pruritis on abdomen, Pru... ORPHA:64745
Hypertrichosis, Congenital Generalized, 2
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Hypotrichosis 13
Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology OMIM:615896
Familial Isolated Café-Au-Lait Macules
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Ichthyosis, Erythroderma, Congenital nonbullous ichthyosiform erythroderma, Palmop... OMIM:242300
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:616099
Pili Torti
Brittle hair, Abnormality of the nail, Abnormality of hair texture, Abnormal eyebrow morphology, ... ORPHA:2889
Parana Hard Skin Syndrome
Thickened skin, Generalized hyperpigmentation, Hyperkeratosis ORPHA:2812
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Pustular ras... OMIM:613953
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy
Hypertrichosis OMIM:620470
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Absent eyebrow OMIM:620199
Hypotrichosis 12
Sparse or absent eyelashes, Abnormal sweat gland morphology, Abnormality of the nail, Slow-growin... OMIM:615885
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis OMIM:617526
Ectodermal Dysplasia 5, Hair/Nail Type
Absent toenail, Dystrophic fingernails, Sparse scalp hair OMIM:614927
Olmsted Syndrome 1
Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Subungual hyperkeratosis, Palmop... OMIM:614594
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Monilethrix
Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Woolly Hair, Autosomal Dominant
Coarse hair, Slow-growing hair, Abnormal eyelash morphology, Woolly hair, Abnormal eyebrow morpho... OMIM:194300
Trichodental Dysplasia
Slow-growing hair, Fine hair, Sparse hair, Brittle hair OMIM:601453
Witkop Syndrome
Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ... OMIM:189500
Crandall Syndrome
Brittle hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili torti, Alopecia ORPHA:202
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Spar... ORPHA:189
Dowling-Degos Disease 4
Hypergranulosis, Pruritus OMIM:615696
Bathing Suit Ichthyosis
Parakeratosis, Ichthyosis, Thickened skin, Congenital nonbullous ichthyosiform erythroderma, Palm... ORPHA:100976
Ichthyosis, Annular Epidermolytic, 1
Ichthyosis, Hyperparakeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar hyper... OMIM:607602
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperpigmentation of the skin, Hyperkeratosis, Hypopigmentation of the skin, Palmoplantar hyperke... ORPHA:89838
Aquagenic Palmoplantar Keratoderma
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Atopic dermatitis, Palmar pruritus ORPHA:498359
Hypotrichosis 14
Sparse body hair, Short eyelashes, Sparse pubic hair, Sparse hair, Absent axillary hair OMIM:618275
Idiopathic Localized Lipodystrophy
Morphea, Hyperpigmentation of the skin, Hypopigmentation of the skin, Inflammatory abnormality of... ORPHA:90158
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Chilblain Lupus 2
Chilblains OMIM:614415
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Pruritus OMIM:615821
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Pa... ORPHA:79397
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Hypergranulosis, Ichthyosis, Erythroderma OMIM:615022
Ichthyosis Vulgaris
Ichthyosis, Eczematoid dermatitis OMIM:146700
Hypotrichosis 9
Abnormality of the nail, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Sparse... OMIM:614237
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:261900
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Ulerythema Ophryogenesis
Hyperkeratotic papule, Acne, Contact dermatitis, Follicular hyperkeratosis ORPHA:3406
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology... OMIM:614931
Vulvovaginal Gingival Syndrome
Parakeratosis, Pruritus ORPHA:83453
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Autosomal Dominant Epidermolytic Ichthyosis
Ichthyosis, Hyperkeratosis, Erythroderma, Congenital bullous ichthyosiform erythroderma, Palmopla... ORPHA:312
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Thoracic hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... OMIM:117850
Carvajal Syndrome
Woolly hair ORPHA:65282
Mal De Meleda
Ichthyosis, Superficial dermal perivascular inflammatory infiltrate, Nonepidermolytic palmoplanta... ORPHA:87503
Ectodermal Dysplasia 4, Hair/Nail Type
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... OMIM:602032
Lichen Planus Pemphigoides
Hyperkeratosis, Hypopigmented streaks, Blepharitis, Conjunctivitis, Pruritus ORPHA:254478
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Predominantly dermal neut... ORPHA:284426
Ectodermal Dysplasia 7, Hair/Nail Type
Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse... OMIM:614929
Acquired Ichthyosis
Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Recurrent skin infections, Pruritus ORPHA:454
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Dissecting Cellulitis Of The Scalp
Recurrent skin infections, Pruritus ORPHA:345
Psoriasis 14, Pustular
Parakeratosis, Cholangitis, Pustule, Psoriasiform dermatitis, Oligoarthritis OMIM:614204
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse body hair, Abnormal toenail morphology, Sparse hair, Aplasia/... ORPHA:1818
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Netherton Syndrome
Parakeratosis, Chronic rhinitis, Eczematoid dermatitis, Congenital nonbullous ichthyosiform eryth... OMIM:256500
Palmoplantar Keratoderma, Epidermolytic, 1
Localized epidermolytic hyperkeratosis, Palmar hyperkeratosis, Plantar hyperkeratosis, Palmoplant... OMIM:144200
Ichthyosis, Congenital, Autosomal Recessive 8
Hyperkeratosis, Ichthyosis, Orthokeratosis, Hypergranulosis OMIM:613943
Ichthyosis Prematurity Syndrome
Hyperpigmentation of the skin, Generalized ichthyosis, Pruritus, Erythroderma, Allergic rhinitis,... OMIM:608649
Darier Disease
Hypermelanotic macule, Thickened skin, Abnormality of skin pigmentation, Acrokeratosis, Palmoplan... ORPHA:218
Ichthyosis, Hystrix-Like, With Deafness
Ichthyosis, Hyperkeratosis, Erythroderma, Cobblestone-like hyperkeratosis, Punctate keratitis, Pa... OMIM:602540
Chilblain Lupus
Malar rash, Hyperkeratosis, Discoid lupus rash, Skin rash, Inflammatory abnormality of the skin, ... ORPHA:90280
Kerion Celsi
Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the... ORPHA:499
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Slow-growing hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair OMIM:129490
Trichothiodystrophy 7, Nonphotosensitive
Ichthyosis, Follicular hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:618546
Focal Palmoplantar And Gingival Keratoderma
Gingival hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Circumungual hyperke... ORPHA:2200
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Palmoplantar Keratoderma, Punctate Type Ia
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis OMIM:148600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Abnormal fingernail morphology, Abnormal toenail morphology, Fine hair,... ORPHA:248
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Ichthyosis, Congenital, Autosomal Recessive 9
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Hypergranulosis, ... OMIM:615023
Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Hypergra... ORPHA:2199
Acrokeratosis Verruciformis
Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Acantholysis, Acrokeratosis OMIM:101900
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Parakeratosis, Chronic rhinitis, Follicular hyperkeratosis OMIM:615225
Bazex-Dupré-Christol Syndrome
Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Sparse eyebrow,... ORPHA:113
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Alopecia OMIM:104100
Classic Mycosis Fungoides
Irregular hyperpigmentation, Hypopigmented skin patches, Hyperkeratosis, Skin rash, Eczematoid de... ORPHA:2584
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Abnormal toenai... ORPHA:1433
Erythrokeratodermia Variabilis Et Progressiva 7
Dystrophic toenail, Woolly hair OMIM:619209
Dermatitis, Atopic
Ichthyosis, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Conjunctivitis, Recurrent skin in... OMIM:603165
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Thick eyebrow, Sparse hair, Widow's peak OMIM:606242
Trichothiodystrophy 9, Nonphotosensitive
Nail dystrophy, Sparse eyebrow, Tiger tail banding, Sparse hair OMIM:619692
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Plantar hyperkeratosis OMIM:616487
Neonatal Lupus Erythematosus
Parakeratosis, Malar rash, Hyperkeratosis, Skin rash, Maculopapular exanthema ORPHA:398124
Chronic Actinic Dermatitis
Hypopigmented skin patches, Late onset atopic dermatitis, Eczematoid dermatitis, Progressive hype... ORPHA:330064
Peeling Skin Syndrome 4
Palmoplantar keratoderma, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:607936
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Hyperkeratosis, Orthokeratosis, Hypergranulosis OMIM:617525
Hawkinsinuria
Fine hair, Sparse hair ORPHA:2118
Woolly Hair Nevus
Woolly scalp hair, Curly hair, Congenital posterior occipital alopecia, Patchy hypopigmentation o... ORPHA:79414
Dowling-Degos Disease
Inguinal freckling, Hypermelanotic macule, Progressive reticulate hyperpigmentation, Arthritis, H... ORPHA:79145
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Acral Peeling Skin Syndrome
Eczematoid dermatitis, Ichthyosis, Hyperpigmentation of the skin ORPHA:263534
Hypotrichosis 5
Absent pubic hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse eyelashes, Th... OMIM:612841
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Epidermolytic Hyperkeratosis 1
Erythroderma, Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis OMIM:113800
Glycosylphosphatidylinositol Biosynthesis Defect 25
Coarse hair, Sparse hair OMIM:619985
Palmoplantar Keratoderma And Congenital Alopecia 2
Hyperkeratosis, Palmoplantar hyperkeratosis, Sclerodactyly OMIM:212360
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Abnormality of the nail, Curly hair, Sparse eyelashes, Sparse body... OMIM:602400
Chromomycosis
Hypopigmented skin patches, Hyperparakeratosis, Hyperkeratosis, Keratitis, Pruritus, Hyperkeratot... ORPHA:182
Ectodermal Dysplasia-Syndactyly Syndrome 1
Coarse hair, Small nail, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Hypoplastic toenai... OMIM:613573
Ichthyosis, Annular Epidermolytic, 2
Palmoplantar keratoderma, Ichthyosis, Orthokeratosis, Palmoplantar hyperkeratosis OMIM:620148
Hypotrichosis And Recurrent Skin Vesicles
Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla... OMIM:613102
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic fingernail, Abnormality of the nail, Abnormal fingernail morphology, Thin toenail, Fr... ORPHA:2228
Cardiofaciocutaneous Syndrome 2
Fine hair, Absent eyebrow, Sparse hair, Curly hair OMIM:615278
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Nail dystrophy, Ridged nail, Alopecia OMIM:601705
Proliferating Trichilemmal Cyst
Sparse scalp hair ORPHA:492
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse body hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1006
Rothmund-Thomson Syndrome, Type 1
Cafe-au-lait spot, Hyperkeratosis, Recurrent otitis media OMIM:618625
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Parakeratosis OMIM:618527
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Sparse eyebrow, Fine hair, Alopecia ORPHA:1882
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each finger onto the palm, Palmopl... OMIM:148700
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Absent lower eyelashes, Distichiasis, Sparse hair OMIM:227260
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Ichthyosis Hystrix, Curth-Macklin Type
Palmoplantar keratoderma, Hyperkeratotic papule OMIM:146590
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Slow-growing hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse hair OMIM:618535
Schopf-Schulz-Passarge Syndrome
Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Poroma, Apocrine hidrocystoma, S... OMIM:224750
Cole Disease
Hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma, Punctate palmoplantar hyperkeratosis, ... OMIM:615522
Clouston Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Small nail, Absent pubic hair, Slow-growing hair, S... OMIM:129500
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Pruritus ORPHA:409
Disseminated Superficial Actinic Porokeratosis
Porokeratosis, Pruritus ORPHA:79152
Erythrokeratodermia Variabilis
Irregular hyperpigmentation, Hypermelanotic macule, Hyperkeratosis, Skin rash, Patchy palmoplanta... ORPHA:317
Naxos Disease
Abnormality of hair texture, Sparse scalp hair, Woolly hair, Curly hair ORPHA:34217
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis, Osteomyelitis OMIM:615632
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Sparse hair ORPHA:79133
Hidrotic Ectodermal Dysplasia, Halal Type
Nail dysplasia, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Abnormal fingernail morpholo... ORPHA:1809
Immunodeficiency 53
Recurrent pneumonia, Skin rash, Recurrent otitis media OMIM:617585
Atrophoderma Vermiculata
Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis ORPHA:79100
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Ridged fingernail, Sparse hair, Fingernail dysplasia, Alopecia ORPHA:2251
Hypotrichosis 3
Abnormality of the nail, Abnormal eyelash morphology, Sparse scalp hair, Abnormal sweat gland mor... OMIM:613981
Woolly Hair-Skin Fragility Syndrome
Woolly hair OMIM:620415
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Ichthyosis, Sclerosing cholangitis, Orthokeratosis, Pruritus OMIM:607626
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis ORPHA:79148
Lichen Planopilaris
Hypopigmented skin patches, Hyperkeratosis, Hepatitis, Pruritus ORPHA:525
Oliver-Mcfarlane Syndrome
Alopecia, Long eyebrows, Sparse hair, Long eyelashes OMIM:275400
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Sparse scalp hair, Pili torti, Brittle hair ORPHA:1573
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Absent eyebrow, Spar... OMIM:604536
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Brittle hair, Absent eyelashes, Absent eyebrow, Sparse body hair, Congenital onyc... ORPHA:2890
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Syndromic X-Linked Intellectual Disability 7
Sparse body hair ORPHA:85274
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Coarse hair OMIM:616390
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:461
Sjögren-Larsson Syndrome
Ichthyosis, Inflammatory abnormality of the eye, Hyperkeratosis, Abnormality of retinal pigmentat... ORPHA:816
Absence Of Fingerprints-Congenital Milia Syndrome
Thickened skin, Skin rash ORPHA:1658
Ectodermal Dysplasia 13, Hair/Tooth Type
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Brittle hair OMIM:617392
Porphyria Cutanea Tarda, Type I
Eczematoid dermatitis, Hyperpigmentation of the skin OMIM:176090
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Hyperkeratosis OMIM:247100
Pseudopelade Of Brocq
Abnormal hair morphology, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasia of the e... ORPHA:129
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis OMIM:615147
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hyperkeratosis, Hypopigmentation of the skin, Thickened skin, Iris hypo... ORPHA:79431
Intermediate Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Sparse body hair, Anonychia, Scarring alopecia of scalp ORPHA:79402
Acrokeratoelastoidosis Of Costa
Hypergranulosis, Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis ORPHA:38
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Ichthyosis, Eczematoid dermatitis ORPHA:3055
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Acrokeratosis Verruciformis Of Hopf
Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis ORPHA:79151
Immunodeficiency 15A
Recurrent otitis media, Chronic mucocutaneous candidiasis, Recurrent sinusitis, Cutaneous abscess... OMIM:618204
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis OMIM:613576
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Schöpf-Schulz-Passarge Syndrome
Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Pseudoprogeria Syndrome
Absent eyelashes, Absent eyebrow, Sparse eyebrow, Sparse hair, Alopecia ORPHA:2985
Bullous Diffuse Cutaneous Mastocytosis
Profuse pigmented skin lesions, Erythroderma, Pruritus ORPHA:280785
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Pruritus ORPHA:89843
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Thick eyebrow, Coarse hair, Synophrys ORPHA:1021
Irida Syndrome
Hyperkeratosis, Ichthyosis ORPHA:209981
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long eyelashes, Sparse hair, Alopecia ORPHA:3363
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Sparse hair, Brittle hair ORPHA:1883
Ichthyosis, Congenital, Autosomal Recessive 3
Palmoplantar keratoderma, Hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythro... OMIM:606545
Dermoodontodysplasia
Trichodysplasia, Toenail dysplasia, Sparse scalp hair, Sparse body hair, Fingernail dysplasia ORPHA:1660
Darier-White Disease
Hypermelanotic macule, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments OMIM:124200
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Sparse body hair, Sparse hair ORPHA:1810
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Immunodeficiency 104
Recurrent otitis media, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Otitis media, P... OMIM:608971
Harlequin Ichthyosis
Congenital ichthyosiform erythroderma, Hyperkeratosis, Ichthyosis, Erythroderma ORPHA:457
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Ichthyosis, Acantholysis, Erythroderma, Eosinophilic infiltration of the esophagus, Palmoplantar ... OMIM:615508
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Palmoplantar keratoderma, Hyperkeratotic papule, Palmoplantar hyperkeratosis ORPHA:2698
Epidermodysplasia Verruciformis
Hypopigmented skin patches, Seborrheic dermatitis, Multiple cafe-au-lait spots, Pustule, Recurren... ORPHA:302
Bazex-Dupre-Christol Syndrome
Trichorrhexis nodosa, Trichoepithelioma, Sparse hair, Pili torti, Coarse hair OMIM:301845
Keratoderma Hereditarium Mutilans
Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis ORPHA:494
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair, Short eyelashes, Sparse axillary hair OMIM:608615
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Cheilitis, Hyperkeratosis, Angular cheilitis, Punctate palmoplantar hyperkeratosis, Acantholysis,... OMIM:616295
Trichothiodystrophy 4, Nonphotosensitive
Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Small nail, Brittle hair, Abnormality of ha... OMIM:234050
Hydroa Vacciniforme
Malar rash, Superficial dermal perivascular inflammatory infiltrate, Eczematoid dermatitis, Papul... ORPHA:330058
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule ORPHA:346
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Colitis OMIM:613148
Copper Deficiency, Familial Benign
Early balding, Curly hair OMIM:121270
Fg Syndrome 3
Frontal upsweep of hair, Fine hair, Sparse hair OMIM:300406
Lessel-Kubisch Syndrome
Premature graying of hair, Sparse pubic hair OMIM:618681
Trichohepatoenteric Syndrome 2
Trichorrhexis nodosa, Brittle hair, Uncombable hair, Woolly hair, Sparse hair OMIM:614602
Xq27.3Q28 Duplication Syndrome
Sparse body hair ORPHA:261483
Lymphatic Malformation 4
Hyperkeratosis OMIM:615907
Variegate Porphyria, Childhood-Onset
Epidermal hyperkeratosis, Atopic dermatitis OMIM:620483
Proteus Syndrome
Hyperkeratosis, Depigmentation/hyperpigmentation of skin OMIM:176920
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Scarring alopecia of scalp, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow ORPHA:59303
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Blepharitis, Keratitis, Conjunctivitis, Palmoplantar keratoderma, Follicular hyperk... OMIM:308800
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Hyperkeratosis, Ichthyosis, Eczematoid dermatitis OMIM:612379
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Absent nipple, Sparse hair, Brittle hair OMIM:614940
Van Den Bosch Syndrome
Recurrent skin infections, Acrokeratosis ORPHA:3417
Lipoid Proteinosis
Thickened skin, Hyperkeratosis, Pustule, Acne ORPHA:530
Eem Syndrome
Sparse body hair, Sparse scalp hair, Absent eyebrow ORPHA:1897
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse pubic hair, Sparse axillary hair OMIM:146110
Onychotrichodysplasia And Neutropenia
Trichorrhexis nodosa, Hypoplastic fingernail, Curly eyelashes, Curly hair, Short eyelashes, Spars... OMIM:258360
Lamellar Ichthyosis
Chronic otitis media, Ichthyosis, Hyperkeratosis, Erythroderma, Pruritus ORPHA:313
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Absent facial hair, Low posterior hairline ORPHA:2183
De Sanctis-Cacchione Syndrome
Parakeratosis, Hypermelanotic macule, Keratitis, Conjunctivitis OMIM:278800
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Congenital Ichthyosiform Erythroderma
Ichthyosis, Erythroderma, Keratitis, Palmoplantar keratoderma, Pruritus ORPHA:79394
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Eczematoid dermatitis, Orthokeratosis, Acne inversa, Subungual hyperkeratosis OMIM:617337
Subacute Cutaneous Lupus Erythematosus
Malar rash, Hyperkeratosis, Discoid lupus rash, Cheilitis ORPHA:163525
Alopecia-Intellectual Disability Syndrome
Alopecia, Sparse body hair, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Phenylketonuria
Generalized hypopigmentation, Eczematoid dermatitis, Blue irides, Fair hair, Scleroderma OMIM:261600
Immunodeficiency 66
Recurrent skin infections, Pustule OMIM:618847
Acute Radiation Syndrome
Hyperpigmentation of the skin, Hyperkeratosis, Hypopigmentation of the skin, Inflammatory abnorma... ORPHA:454831
Idiopathic Trachyonychia
Ichthyosis, Vitiligo, Atopic dermatitis, Circumungual hyperkeratosis ORPHA:79153
Ige Responsiveness, Atopic
Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Bullous Impetigo
Septic arthritis, Pustule, Recurrent bacterial skin infections ORPHA:36237
Localized Junctional Epidermolysis Bullosa
Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Dystrophic toenail, Sparse pu... ORPHA:251393
Flynn-Aird Syndrome
Hyperkeratosis OMIM:136300
Gand Syndrome
Sparse hair OMIM:615074
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Hirsutism, Long eyelashes, Thick eyebrow, Low anterior hairline, Sparse hair OMIM:616819
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Distichiasis, Sparse lateral eyebrow, Abnormal hair pattern, Sparse lower ... ORPHA:1807
Pachyonychia Congenita 2
Nail dysplasia, Nail dystrophy, Sparse scalp hair, Sparse eyebrow, Subungual hyperkeratosis, Dry ... OMIM:167210
Trichothiodystrophy 8, Nonphotosensitive
Woolly hair, Trichorrhexis nodosa, Sparse eyebrow, Sparse hair OMIM:619691
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Ichthyosis With Confetti
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Erythr... OMIM:609165
Pachyonychia Congenita 3
Palmoplantar keratoderma, Plantar hyperkeratosis, Palmar hyperkeratosis, Chapped lip, Follicular ... OMIM:615726
Hereditary Mucoepithelial Dysplasia
Fine hair, Sparse hair, Alopecia ORPHA:1839
Ramon Syndrome
Hyperkeratosis, Abnormality of retinal pigmentation ORPHA:3019
Peeling Skin Syndrome 1
Onycholysis, Nail dystrophy, Brittle hair OMIM:270300
Progeroid Syndrome, Petty Type
Brittle hair, Abnormality of the nail, Abnormal hair morphology, Generalized hirsutism, Thick eye... ORPHA:2963
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Abnormality of hair texture OMIM:601957
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair OMIM:273390
Blepharocheilodontic Syndrome 1
Nail dysplasia, High anterior hairline, Small nail, Distichiasis, Sparse hair OMIM:119580
Erosive Pustular Dermatosis Of The Scalp
Pustule ORPHA:222
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis, Bronchiectasis, Reticular hyperpigmentation, Recurrent pneumonia, Generalized ret... OMIM:301220
Rodrigues Blindness
Fine hair, Sparse hair OMIM:268320
Lymphoproliferative Syndrome, X-Linked, 2
Folliculitis, Inflammation of the large intestine, Acne, Erythema nodosum, Recurrent skin infecti... OMIM:300635
Immunodeficiency 50
Eczematoid dermatitis OMIM:300988
Dracunculiasis
Recurrent cutaneous abscess formation, Arthritis, Skin rash, Pruritus ORPHA:231
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair ORPHA:2221
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent skin infections, Recurrent otitis media, Cutaneous abscess, Atopic dermatitis OMIM:618944
Leopard Syndrome 3
Hyperkeratosis, Multiple lentigines, Epidermal hyperkeratosis, Few cafe-au-lait spots OMIM:613707
Poikiloderma With Neutropenia
Recurrent otitis media, Hyperkeratosis, Skin rash, Reticular hyperpigmentation, Blepharitis, Recu... OMIM:604173
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Fine hair, Sparse scalp hair ORPHA:2324
Keratolytic Winter Erythema
Pustule ORPHA:50943
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash OMIM:619175
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyelashes, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Absent eyebrow, Sparse e... OMIM:614941
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Hyperparakeratosis ORPHA:276280
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital ichthyosiform erythroderma, Hyperkeratosis, Orthokeratosis, Parakeratosis OMIM:308050
Androgen Insensitivity Syndrome
Absent facial hair, Sparse pubic hair, Sparse axillary hair OMIM:300068
Netherton Syndrome
Irregular hyperpigmentation, Ichthyosis, Acanthosis nigricans, Skin rash, Eczematoid dermatitis, ... ORPHA:634
Noonan Syndrome 8
Hyperkeratosis, Eczematoid dermatitis, Hyperpigmentation of the skin OMIM:615355
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Alopecia ORPHA:69735
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Alopecia-Intellectual Disability Syndrome 4
Erythroderma, Ichthyosis OMIM:618840
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Tiger tail banding, Sparse eyebrow, Sparse hair, Reduced hair su... OMIM:300953
Ichthyosis, Congenital, Autosomal Recessive 2
Palmoplantar keratoderma, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Conge... OMIM:242100
Phoar2-Enteropathy Syndrome
Thickened skin, Seborrheic dermatitis, Acne OMIM:614441
Ifap Syndrome 2
Nail dystrophy, Atrichia, Sparse hair OMIM:619016
Elastoderma
Erysipelas, Eczematoid dermatitis ORPHA:228240
Lelis Syndrome
Nail dystrophy, Yellow nails, Sparse lateral eyebrow, Abnormal toenail morphology, Sparse hair, A... ORPHA:140936
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Atopic derma... OMIM:618282
Non-Acquired Isolated Growth Hormone Deficiency
Sparse hair ORPHA:631
Filippi Syndrome
Frontal hirsutism, Hypertrichosis, Sparse hair OMIM:272440
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse eyebrow, Sparse hair OMIM:619989
Autoimmune Disease, Susceptibility To, 1
Hashimoto thyroiditis, Vitiligo OMIM:607836
Hermansky-Pudlak Syndrome 9
Recurrent skin infections, Hypopigmentation of the skin, Ocular albinism OMIM:614171
Nicolaides-Baraitser Syndrome
Curly eyelashes, Highly arched eyebrow, Long eyelashes, Abnormal hair pattern, Sparse hair, Alopecia ORPHA:3051
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis ORPHA:300179
Milroy Disease
Erysipelas, Hyperkeratosis ORPHA:79452
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:281090
Pemphigus Erythematosus
Hypopigmented skin patches, Acantholysis, Malar rash ORPHA:79480
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
Ectodermal Dysplasia/Short Stature Syndrome
Palmoplantar keratoderma, Hyperkeratosis OMIM:616029
Anauxetic Dysplasia 2
Nail dysplasia, Sparse hair, Small nail OMIM:617396
Craniofrontonasal Dysplasia
Abnormality of hair texture, Woolly hair, Low posterior hairline, Ridged fingernail, Widow's peak ORPHA:1520
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Sparse hair, Alopecia OMIM:616353
Mycosis Fungoides
Psoriasiform dermatitis, Pruritus, Eczematoid dermatitis OMIM:254400
Trichotillomania
Alopecia OMIM:613229
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Acantholysis, Cutaneous abscess, Ulcerative colit... ORPHA:555905
Cranio-Osteoarthropathy
Arthritis, Mottled pigmentation, Osteoarthritis, Eczematoid dermatitis ORPHA:1525
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma OMIM:614457
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Inflammatory abnormality of the eye, Hyperkeratosis, Eczematoid derm... ORPHA:238468
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Stomatitis, Hyperkeratosis, Skin rash, Pustule, Osteomyelitis OMIM:612852
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Seborrheic dermatitis, Superficial dermal perivascular inflammatory infiltrate, Ec... ORPHA:83617
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic nipples, Sparse hair, Small nail OMIM:273400
Weaver Syndrome
Thin nail, Deep-set nails, Abnormal fingernail morphology, Hypoplastic toenails, Fine hair ORPHA:3447
Cronkhite-Canada Syndrome
Hypoplastic toenails, Dystrophic fingernails, Dystrophic toenail, Patchy alopecia, Abnormal finge... ORPHA:2930
Pemphigus Foliaceus
Pustule, Erythroderma, Acantholysis, Psoriasiform dermatitis, Crusting erythematous dermatitis, P... ORPHA:79481
Menkes Disease
Alopecia, Sparse hair, Brittle hair OMIM:309400
Papillon-Lefèvre Syndrome
Hypopigmented skin patches, Severe periodontitis, Periodontitis, Recurrent cutaneous abscess form... ORPHA:678
Acute Generalized Exanthematous Pustulosis
Cheilitis, Hyperpigmentation of the skin, Predominantly dermal neutrophilic infiltrate, Pustule, ... ORPHA:293173
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Inflammatory abnormality of the skin, Pruritus ORPHA:79099
Cardiofaciocutaneous Syndrome 4
Alopecia of scalp, Absent eyebrow, Sparse eyelashes, Curly hair, Sparse hair OMIM:615280
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Pustule, Pruritus, Hyperpigmentation of the skin ORPHA:48377
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Nail dystrophy, Coarse hair, Brittle hair ORPHA:75389
Vulto-Van Silfhout-De Vries Syndrome
Horizontal eyebrow, Fine hair, Widow's peak OMIM:615828
Amelo-Onycho-Hypohidrotic Syndrome
Onycholysis, Abnormal fingernail morphology, Fine hair, Hypoplastic toenails ORPHA:1028
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Sparse lateral eyebrow, Low anterior hairline, Thin eyebrow, Sparse hair, Pili ... ORPHA:1787
Chronic Mucocutaneous Candidiasis
Cheilitis, Hyperkeratosis, Skin rash, Hepatitis, Pruritus ORPHA:1334
2Q32Q33 Microdeletion Syndrome
Fine hair, Sparse hair ORPHA:251019
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Thickened skin, Seborrheic dermatitis, Acne OMIM:167100
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin ORPHA:90159
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized ichthyosis, Generalized hyperkeratosis ORPHA:2269
Prolidase Deficiency
Hyperkeratosis, White forelock, Abnormality of retinal pigmentation, Palmoplantar keratoderma, Cr... ORPHA:742
Rapp-Hodgkin Syndrome
Nail dystrophy, Pili canaliculi, Decreased number of sweat glands, Small nail, Slow-growing hair,... OMIM:129400
Adult Syndrome
Breast hypoplasia, Toenail dysplasia, Abnormality of the nail, Hypoplastic nipples, Sparse scalp ... ORPHA:978
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Fine hair, High anterior hairline, Long eyelashes ORPHA:231137
Familial Keratoacanthoma
Hyperkeratosis ORPHA:493
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dysplasia, Brittle hair, Progressive hypotrichosis, Sparse eyelashes, Sparse eyebrow, Pili t... OMIM:225060
Acrogeria
Fine hair ORPHA:2500
Odontoonychodermal Dysplasia
Nail dysplasia, Dystrophic fingernails, Thin nail, Ridged nail, Dystrophic toenail, Sparse scalp ... OMIM:257980
Reynolds Syndrome
Irregular hyperpigmentation, Keratoconjunctivitis sicca, Arthritis, Skin rash, Sclerodactyly, Inf... ORPHA:779
Even-Plus Syndrome
Highly arched eyebrow, Sparse hair, Synophrys OMIM:616854
Trichothiodystrophy 6, Nonphotosensitive
Slow-growing hair, Tiger tail banding, Brittle hair OMIM:616943
C1Q Deficiency 2
Recurrent otitis media, Malar rash, Arthritis, Discoid lupus rash, Chilblains, Bronchiectasis OMIM:620321
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis, Hyperkeratosis OMIM:301108
Noonan Syndrome 6
Long eyebrows, Curly hair, Low posterior hairline, Sparse hair OMIM:613224
Cranioectodermal Dysplasia
Abnormal fingernail morphology, Abnormal toenail morphology, Sparse hair ORPHA:1515
Intellectual Developmental Disorder, Autosomal Recessive 5
Thick eyebrow, Sparse hair, Synophrys OMIM:611091
Papa Syndrome
Myositis, Arthritis, Crohn's disease, Pustule, Acne, Increased inflammatory response ORPHA:69126
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Hyperkeratosis, Keratoconjunctivitis sicca ORPHA:1806
Congenital Disorder Of Glycosylation, Type Im
Hyperkeratosis, Ichthyosis, Inflammatory abnormality of the skin OMIM:610768