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.

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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
Linear Atrophoderma Of Moulin
Scleroderma, Pruritus, Linear hyperpigmentation, Inflammatory abnormality of the skin ORPHA:140933
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Hypotrichosis 9
Sparse body hair, Sparse scalp hair OMIM:614237
Dowling-Degos Disease 2
Hypomelanotic macule, Hyperkeratotic papule, Follicular hyperkeratosis, Reticular hyperpigmentation OMIM:615327
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Hypotrichosis 1
Sparse body hair, Sparse eyebrow, Sparse axillary hair, Sparse pubic hair, Sparse eyelashes, Spar... OMIM:605389
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Pruritus, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Hypotrichosis 15
Sparse scalp hair OMIM:620177
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Hypotrichosis 4
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes OMIM:146550
Hypotrichosis Simplex
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse hair ORPHA:55654
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosi... OMIM:613000
Keratosis, Focal Palmoplantar And Gingival
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... OMIM:148730
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis 10
Sparse body hair, Sparse eyelashes, Sparse eyebrow OMIM:614238
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars... OMIM:615059
Hyperkeratosis-Hyperpigmentation Syndrome
Irregular hyperpigmentation, Hyperkeratosis, Multiple cafe-au-lait spots ORPHA:1336
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:617574
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Witkop Syndrome
Small nail, Fine hair, Nail pits, Ridged nail, Concave nail, Sparse hair OMIM:189500
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair OMIM:616760
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin 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
Porokeratosis, Pruritus, Hyperkeratosis ORPHA:735
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Hypergranul... OMIM:604117
Ichthyosis, Congenital, Autosomal Recessive 10
Generalized ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperker... OMIM:615024
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Thin toenail, Sparse hair, Dystrophic toenail OMIM:614928
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis, Abnormality of skin pigmentation ORPHA:315
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Perifolliculitis OMIM:613737
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroder... OMIM:601952
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Cafe-au-lait spot, Multiple lentigines, Hypopigmented skin patches, Progressive hyperpigmentation... 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
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Porokeratosis Plantaris Palmaris Et Disseminata
Porokeratosis, Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis ORPHA:737
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hyperpigmentation ORPHA:2297
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair, Brittle hair OMIM:617252
Olmsted Syndrome, X-Linked
Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Subungual hyperkeratosis, Palmoplanta... OMIM:300918
Psoriasis 2
Parakeratosis, Hyperkeratosis, Psoriasiform dermatitis OMIM:602723
Congenital Panfollicular Nevus
Hyperkeratosis, Pruritus ORPHA:139414
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Spotty hyperpig... ORPHA:79399
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation, Foll... OMIM:613736
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Orthokeratosis OMIM:618084
Infantile Digital Fibromatosis
Parakeratosis, Hyperkeratosis ORPHA:199267
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized hypopigmentation, Palmoplantar hyperkeratosis, Spotty hyperpigmentation, Parakeratosi... ORPHA:158681
Alopecia Universalis Congenita
Absent eyelashes, Alopecia universalis, Absent pubic hair, Absent eyebrow, Absent axillary hair OMIM:203655
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair, Nail dystrophy, Atrichia OMIM:614931
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair ORPHA:505
Pityriasis Rubra Pilaris
Orthokeratosis, Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis OMIM:173200
Alopecia Areata 2
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis OMIM:610753
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Recurrent skin infections ORPHA:79503
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Acrokeratosis Verruciformis
Hyperkeratosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis OMIM:101900
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Trichodysplasia-Xeroderma Syndrome
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ... ORPHA:3361
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Abnormal fingernail morphology,... ORPHA:2722
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Hair Defect With Photosensitivity And Mental Retardation
Sparse eyebrow, Brittle hair, Coarse hair, Sparse eyelashes, Sparse hair OMIM:234030
Monilethrix
Alopecia, Brittle hair, Nail dysplasia, Abnormality of hair texture, Sparse hair, Nail dystrophy OMIM:158000
Hypertrichosis Lanuginosa Congenita
Double eyebrow, Congenital, generalized hypertrichosis OMIM:145700
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Marie Unna Hereditary Hypotrichosis
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Coarse hair, Sparse or absent eye... ORPHA:444
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Erythroderma, Pa... OMIM:604777
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Alopecia universalis, Patchy alopecia ORPHA:701
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Hypotrichosis 12
Dry hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse or absent eyelashes, Slow-growin... OMIM:615885
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Ectodermal Dysplasia 4, Hair/Nail Type
Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O... OMIM:602032
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Sparse axillary hair, Sparse pubic hair, Abnormality of the nail, Onychogrypos... ORPHA:1808
Tylosis With Esophageal Cancer
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Follicular hyperkeratosis OMIM:148500
Ichthyosis, Congenital, Autosomal Recessive 6
Generalized ichthyosis, Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Paraker... OMIM:612281
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythemat... ORPHA:79147
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Pityriasis Rubra Pilaris
Irregular hyperpigmentation, Thickened skin, Ichthyosis, Pruritus, Eczema, Pustule, Subungual hyp... ORPHA:2897
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Olmsted Syndrome 2
Pruritus, Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Perioral hyperkeratosis, Pa... OMIM:619208
Bazex Syndrome
Pruritus, Parakeratosis, Hyperkeratosis, Acanthosis nigricans, Lip hyperpigmentation, Palmoplanta... ORPHA:166113
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Hyperkeratosis, Follicular hyperkeratosis, Axillary and groin hyperpigment... ORPHA:69125
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Hypergranulosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis OMIM:133200
Keratoderma Hereditarium Mutilans With Ichthyosis
Generalized ichthyosis, Orthokeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyper... ORPHA:79395
Hypotrichosis 7
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Brittle hair, Sparse axillary hair, Abnormal... OMIM:604379
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Pili torti, Sparse or absent eyel... ORPHA:2891
Alopecia Areata 1
Trachyonychia, Alopecia universalis, Alopecia totalis, Nail pits, Patchy alopecia OMIM:104000
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Hyperkeratosis, Pruritus, Congenital nonbullous ichthyosiform eryt... OMIM:617571
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Sparse body hair, Alopecia, Dystrophic toenail, Alopecia of scalp, Onychogryposis of toenails OMIM:617294
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dysplasia, Sparse hair, Nail dystrophy OMIM:211390
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of the nail, Abnorma... ORPHA:2889
Aredyld
Generalized hypotrichosis OMIM:207780
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Hypertrichosis, Congenital Generalized
Hirsutism, Congenital, generalized hypertrichosis OMIM:307150
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on hand, Pruritus on foot, Parakeratosis, Pruritis on abdomen, Palmar pruritus, Pruritis... ORPHA:64745
Ichthyosis, Congenital, Autosomal Recessive 1
Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Parake... OMIM:242300
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... OMIM:613953
Palmoplantar Keratoderma And Woolly Hair
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyelashes OMIM:616099
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin, Generalized hyperpigmentation ORPHA:2812
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse eyelashes, Sparse hair, Woolly hair OMIM:615896
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis OMIM:617525
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:617526
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Ectodermal Dysplasia 5, Hair/Nail Type
Absent toenail, Sparse scalp hair, Dystrophic fingernails OMIM:614927
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Abnormal eyelash m... ORPHA:573
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Trichodental Dysplasia
Slow-growing hair, Sparse hair, Fine hair, Brittle hair OMIM:601453
Crandall Syndrome
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Brittle hair, Fine hair ORPHA:202
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal eyebrow morphology, Woolly hair, Abnormal eyelash morphology, Coarse hair, Slo... OMIM:194300
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Olmsted Syndrome 1
Pruritus, Orthokeratosis, Parakeratosis, Hyperparakeratosis, Subungual hyperkeratosis, Palmoplant... OMIM:614594
Dowling-Degos Disease 4
Pruritus, Hypergranulosis OMIM:615696
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Pruritus, Palmoplantar hyperkeratosis, Hyperpigmentation of the ski... ORPHA:89838
Hypotrichosis 6
Sparse eyebrow, Pili torti, Brittle hair, Sparse eyelashes, Sparse hair OMIM:607903
Hypotrichosis 14
Sparse body hair, Sparse pubic hair, Short eyelashes, Sparse hair, Absent axillary hair OMIM:618275
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Palmar pruritus, Palmoplantar keratoderma, Atopic dermatitis ORPHA:498359
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Inflammatory abnormality of the skin, Scleroderma, Morphea, Hyperpi... ORPHA:90158
Porokeratosis
Hyperkeratosis, Abnormality of skin pigmentation, Pruritus ORPHA:79358
Chilblain Lupus 2
Chilblains OMIM:614415
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Ichthyosis, Pruritus, Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma OMIM:615821
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Parakeratosis, Hyperkeratosis OMIM:618339
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Ichthyosis, Hypergranulosis, Erythroderma OMIM:615022
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Hyperkeratotic papule, Mixed hypo- and hyperpigmentation of the skin, Spott... ORPHA:79397
Bathing Suit Ichthyosis
Thickened skin, Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform eryt... ORPHA:100976
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis OMIM:104130
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Pili Torti, Early-Onset
Dry hair, Pili torti, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and... OMIM:261900
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Vulvovaginal Gingival Syndrome
Parakeratosis, Pruritus ORPHA:83453
Ulerythema Ophryogenesis
Contact dermatitis, Hyperkeratotic papule, Follicular hyperkeratosis, Acne ORPHA:3406
Autosomal Dominant Epidermolytic Ichthyosis
Ichthyosis, Congenital bullous ichthyosiform erythroderma, Hyperkeratosis, Erythroderma, Palmopla... ORPHA:312
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertrichosis, Thoracic hypertri... OMIM:117850
Mal De Meleda
Ichthyosis, Inflammatory abnormality of the skin, Nonepidermolytic palmoplantar hyperkeratosis, S... ORPHA:87503
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis, Hypergranulosis ORPHA:79151
Carvajal Syndrome
Woolly hair ORPHA:65282
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pustule, Predominantly de... ORPHA:284426
Lichen Planus Pemphigoides
Conjunctivitis, Pruritus, Hypopigmented streaks, Hyperkeratosis, Blepharitis ORPHA:254478
Trichothiodystrophy 7, Nonphotosensitive
Ichthyosis, Follicular hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:618546
Acquired Ichthyosis
Ichthyosis, Pruritus, Hyperkeratosis, Recurrent skin infections, Palmoplantar keratoderma ORPHA:454
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, Ung... ORPHA:1433
Ectodermal Dysplasia 7, Hair/Nail Type
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Brittle hair, Onycholysis, Abnor... OMIM:614929
Hypotrichosis Simplex Of The Scalp
Pruritus, Allergic rhinitis, Parakeratosis, Hyperkeratosis, Atopic dermatitis ORPHA:90368
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Sparse scalp hair, Alopecia universalis, Abnormal eyelash morphology ORPHA:1008
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Psoriasis 14, Pustular
Oligoarthritis, Cholangitis, Parakeratosis, Pustule, Psoriasiform dermatitis OMIM:614204
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Abnormal toenai... ORPHA:1818
Kerion Celsi
Recurrent skin infections, Recurrent cutaneous abscess formation, Inflammatory abnormality of the... ORPHA:499
Ichthyosis Vulgaris
Eczematoid dermatitis, Ichthyosis OMIM:146700
Palmoplantar Keratoderma, Epidermolytic
Palmar hyperkeratosis, Palmoplantar hyperkeratosis, Plantar hyperkeratosis, Localized epidermolyt... OMIM:144200
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair ORPHA:401911
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Sparse hair, Sparse eyelashes, Ridged nail, Slow-growing hair OMIM:129490
Ichthyosis, Congenital, Autosomal Recessive 8
Hyperkeratosis, Ichthyosis, Hypergranulosis, Orthokeratosis OMIM:613943
Ichthyosis, Hystrix-Like, With Deafness
Ichthyosis, Cobblestone-like hyperkeratosis, Punctate keratitis, Palmoplantar hyperkeratosis, Pal... OMIM:602540
Focal Palmoplantar And Gingival Keratoderma
Gingival hyperkeratosis, Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperke... ORPHA:2200
Chilblain Lupus
Pruritis on hand, Malar rash, Inflammatory abnormality of the skin, Discoid lupus rash, Skin rash... ORPHA:90280
Darier Disease
Abnormality of skin pigmentation, Thickened skin, Pruritus, Acrokeratosis, Hypermelanotic macule,... ORPHA:218
Bjornstad Syndrome
Alopecia, Dry hair, Pili torti, Brittle hair, Coarse hair, Hair shafts flattened at irregular int... OMIM:262000
Palmoplantar Keratoderma, Punctate Type Ia
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis OMIM:148600
Ichthyosis Prematurity Syndrome
Generalized ichthyosis, Allergic rhinitis, Erythroderma, Hyperpigmentation of the skin, Pruritus,... OMIM:608649
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, Abnormal hair m... ORPHA:248
Ichthyosis, Annular Epidermolytic, 1
Congenital bullous ichthyosiform erythroderma, Ichthyosis, Palmoplantar hyperkeratosis OMIM:607602
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Hyperkeratosis, H... OMIM:615023
Epidermolytic Palmoplantar Keratoderma
Palmoplantar hyperkeratosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palma... ORPHA:2199
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Chronic rhinitis OMIM:615225
Schopf-Schulz-Passarge Syndrome
Apocrine hidrocystoma, Small nail, Poroma, Thin nail, Onycholysis, Ridged nail, Narrow nail, Spar... OMIM:224750
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, Coarse hair, Sparse hair, Sp... ORPHA:113
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Brittle hair, Nail dysplasia, Sparse hair OMIM:104100
Classic Mycosis Fungoides
Irregular hyperpigmentation, Pruritus, Skin rash, Eczema, Hypopigmented skin patches, Hyperkeratosis ORPHA:2584
Netherton Syndrome
Parakeratosis, Erythroderma, Allergic rhinitis, Congenital nonbullous ichthyosiform erythroderma OMIM:256500
Hypotrichosis And Recurrent Skin Vesicles
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Sparse axillary hair, Sparse ey... OMIM:613102
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis, Ichthyosis ORPHA:3052
Erythrokeratodermia Variabilis Et Progressiva 7
Dystrophic toenail, Woolly hair OMIM:619209
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Nail dystrophy, Tiger tail banding, Sparse hair OMIM:619692
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Plantar hyperkeratosis OMIM:616487
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Erythroderma, Allergic rhinitis, Eczema, Hypopigmented skin patches... ORPHA:330064
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Widow's peak, Thick eyebrow, Sparse hair OMIM:606242
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Neonatal Lupus Erythematosus
Malar rash, Skin rash, Parakeratosis, Hyperkeratosis, Maculopapular exanthema ORPHA:398124
Dermatitis, Atopic
Conjunctivitis, Ichthyosis, Allergic rhinitis, Eczema, Recurrent skin infections, Pruritus, Atopi... OMIM:603165
Peeling Skin Syndrome 4
Palmoplantar keratoderma, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:607936
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Acral Peeling Skin Syndrome
Hyperpigmentation of the skin, Ichthyosis, Eczema ORPHA:263534
Epidermolytic Hyperkeratosis
Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Erythroderma OMIM:113800
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Dowling-Degos Disease
Progressive reticulate hyperpigmentation, Hyperkeratotic papule, Pruritus, Mixed hypo- and hyperp... ORPHA:79145
Chromomycosis
Hyperkeratotic papule, Pruritus, Keratoconjunctivitis sicca, Hypopigmented skin patches, Hyperpar... ORPHA:182
Hypotrichosis 5
Alopecia, Thin eyebrow, Abnormality of the nail, Abnormal sweat gland morphology, Absent pubic ha... OMIM:612841
Palmoplantar Keratoderma And Congenital Alopecia 2
Sclerodactyly, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:212360
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic toenails, Fine hair, Abnormality of the nail, Abnormal fingernail morphology, Hypopla... ORPHA:2228
Erythrokeratodermia Variabilis Et Progressiva 2
Hypertrichosis OMIM:617524
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Hypoplastic toenails, Small nail, Sparse scalp hair, Pili torti, Absent facial hair, Pa... OMIM:613573
Cole Disease
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, H... OMIM:615522
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse body hair, Sparse eyebrow, Curly hair, Pili torti, Brittle hair, Curly eyelashes, Sparse e... OMIM:602400
Alopecia Antibody Deficiency
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Abnormal eyelash morphology ORPHA:1006
Proliferating Trichilemmal Cyst
Sparse scalp hair ORPHA:492
Cardiofaciocutaneous Syndrome 2
Curly hair, Absent eyebrow, Sparse hair, Fine hair OMIM:615278
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis, Cafe-au-lait spot, Recurrent otitis media OMIM:618625
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Ridged nail, Nail dystrophy, Nail pits OMIM:601705
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans OMIM:618527
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent skin infections, Orthokeratosis, Psoriasiform dermatitis, Erythroderma, Acantholysis, P... OMIM:615508
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Fine hair, Dystrophic fingernails ORPHA:1882
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Pruritus ORPHA:409
Disseminated Superficial Actinic Porokeratosis
Porokeratosis, Pruritus ORPHA:79152
Focal Facial Dermal Dysplasia 3, Setleis Type
Absent lower eyelashes, Distichiasis, Sparse hair, Low anterior hairline OMIM:227260
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each ... OMIM:148700
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Sparse scalp hair, Sparse eyelashes, Sparse hair, Slow-growing hair OMIM:618535
Pilodental Dysplasia With Refractive Errors
Brittle scalp hair, Sparse scalp hair, Abnormality of the nail, Brittle hair OMIM:262020
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Brittle hair, Alopecia totalis, Fine hair, Onycholysis, Nai... OMIM:129500
Ichthyosis Hystrix, Curth-Macklin Type
Palmoplantar keratoderma, Hyperkeratotic papule OMIM:146590
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Absent eyelashes, Distichiasis, Sparse hair, Low anterior hairline ORPHA:79133
Naxos Disease
Abnormality of hair texture, Sparse scalp hair, Curly hair, Woolly hair ORPHA:34217
Erythrokeratodermia Variabilis
Irregular hyperpigmentation, Skin rash, Hypermelanotic macule, Hyperkeratosis, Patchy palmoplanta... ORPHA:317
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse body hair, Sparse scalp hair, Absent eyelashes, Supernumerary nipple, Trichodysplasia, Abn... ORPHA:1809
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis, Osteomyelitis OMIM:615632
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis ORPHA:79148
Atrophoderma Vermiculata
Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Pili torti, Fine hair, Brittle hair ORPHA:1573
Oliver-Mcfarlane Syndrome
Alopecia, Long eyebrows, Long eyelashes, Sparse hair OMIM:275400
Pili Torti-Onychodysplasia Syndrome
Sparse body hair, Alopecia, Brittle hair, Absent eyelashes, Alopecia universalis, Trichodysplasia... ORPHA:2890
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Ichthyosis, Orthokeratosis, Sclerosing cholangitis, Parakeratosis, Pruritus OMIM:607626
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:461
Lichen Planopilaris
Hepatitis, Hyperkeratosis, Pruritus, Hypopigmented skin patches ORPHA:525
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyelashes, Alopecia of scalp, Absent eyebrow, Sparse hair, Dystrophic fingernails, Nail dy... OMIM:604536
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Hypotrichosis 3
Abnormal sweat gland morphology, Sparse scalp hair, Abnormal eyelash morphology, Abnormality of t... OMIM:613981
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Ridged fingernail, Onychogryposis of fingernail, Sparse hair ORPHA:2251
Syndromic X-Linked Intellectual Disability 7
Sparse body hair ORPHA:85274
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Sparse eyebrow, Progressive hypotrichosis, Brittle hair, Nail dysplasia, Sparse eyelashes, Abnorm... OMIM:225060
Absence Of Fingerprints-Congenital Milia Syndrome
Skin rash, Thickened skin ORPHA:1658
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Coarse hair OMIM:616390
Sjögren-Larsson Syndrome
Ichthyosis, Inflammatory abnormality of the eye, Generalized hyperpigmentation, Abnormality of re... ORPHA:816
Ectodermal Dysplasia 13, Hair/Tooth Type
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair OMIM:617392
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin OMIM:247100
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin, Eczema OMIM:176090
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Nail dystrophy, Anonychia, Scarring alopecia of scalp ORPHA:79402
Oculocutaneous Albinism Type 1A
Hypopigmentation of the skin, Thickened skin, Ocular albinism, Albinism, Iris hypopigmentation, H... ORPHA:79431
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis OMIM:615147
Pseudopelade Of Brocq
Alopecia, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, Abnormal... ORPHA:129
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Ichthyosis, Eczema ORPHA:3055
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis ORPHA:38
Immunodeficiency 15A
Acne inversa, Cutaneous abscess, Recurrent otitis media, Recurrent sinusitis, Chronic mucocutaneo... OMIM:618204
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Ectodermal Dysplasia-Syndactyly Syndrome 2
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosis OMIM:613576
Schöpf-Schulz-Passarge Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse hair ORPHA:50944
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair ORPHA:2985
Bullous Diffuse Cutaneous Mastocytosis
Profuse pigmented skin lesions, Pruritus, Erythroderma ORPHA:280785
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Pruritus ORPHA:89843
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Sparse hair, Abnormal fingernail morphology ORPHA:1810
Amaurosis-Hypertrichosis Syndrome
Synophrys, Thick eyebrow, Abnormal eyelash morphology, Coarse hair ORPHA:1021
Dermoodontodysplasia
Sparse body hair, Toenail dysplasia, Sparse scalp hair, Fingernail dysplasia, Trichodysplasia ORPHA:1660
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Sparse hair, Brittle hair ORPHA:1883
Ichthyosis, Congenital, Autosomal Recessive 3
Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythro... OMIM:606545
Irida Syndrome
Hyperkeratosis, Ichthyosis ORPHA:209981
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Immunodeficiency 104
Eczema, Chronic mucocutaneous candidiasis, Recurrent otitis media, Otitis media, Pneumonia OMIM:608971
Darier-White Disease
Acrokeratosis, Acantholysis, Hypermelanotic macule, Pruritus, Subungual hyperkeratotic fragments OMIM:124200
Skin Fragility-Woolly Hair Syndrome
Alopecia, Sparse eyebrow, Woolly hair, Sparse eyelashes, Nail dystrophy OMIM:607655
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Epidermodysplasia Verruciformis
Hypopigmented skin patches, Pustule, Multiple cafe-au-lait spots, Recurrent skin infections, Sebo... ORPHA:302
Oligodontia-Colorectal Cancer Syndrome
Sparse body hair, Sparse scalp hair, Sparse axillary hair, Absent eyebrow, Short eyelashes OMIM:608615
Bazex Syndrome
Trichorrhexis nodosa, Pili torti, Coarse hair, Trichoepithelioma, Sparse hair OMIM:301845
Keratoderma Hereditarium Mutilans
Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis ORPHA:494
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair ORPHA:181
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Harlequin Ichthyosis
Hyperkeratosis, Ichthyosis, Congenital ichthyosiform erythroderma, Erythroderma ORPHA:457
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Palmoplantar keratoderma, Hyperkeratotic papule, Palmoplantar hyperkeratosis ORPHA:2698
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Trichorrhexis nodosa, Brittle hair, Woolly hair, Nail dysplasia, Concave nail, Sparse... OMIM:234050
Quinquaud Folliculitis Decalvans
Pustule, Recurrent skin infections ORPHA:346
Copper Deficiency, Familial Benign
Early balding, Curly hair OMIM:121270
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Pruritus, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis, ... OMIM:616295
Trichohepatoenteric Syndrome 2
Trichorrhexis nodosa, Brittle hair, Woolly hair, Uncombable hair, Sparse hair OMIM:614602
Proteus Syndrome
Hyperkeratosis, Depigmentation/hyperpigmentation of skin OMIM:176920
Lessel-Kubisch Syndrome
Sparse pubic hair, Premature graying of hair OMIM:618681
Familial Benign Chronic Pemphigus
Acantholysis, Hyperkeratosis ORPHA:2841
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis OMIM:613148
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Scarring alopecia of scalp, Sparse eyelashes ORPHA:59303
Eem Syndrome
Sparse body hair, Sparse scalp hair, Absent eyebrow ORPHA:1897
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Conjunctivitis, Folliculitis, Keratitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Ble... OMIM:308800
Congenital Disorder Of Glycosylation, Type Iq
Hyperkeratosis, Abnormality of skin pigmentation, Ichthyosis, Eczema OMIM:612379
Lipoid Proteinosis
Pustule, Hyperkeratosis, Thickened skin, Acne ORPHA:530
Onychotrichodysplasia And Neutropenia
Curly hair, Trichorrhexis nodosa, Sparse pubic hair, Hypoplastic fingernail, Concave nail, Curly ... OMIM:258360
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Absent nipple, Sparse hair, Brittle hair OMIM:614940
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse axillary hair, Sparse pubic hair OMIM:146110
Lamellar Ichthyosis
Ichthyosis, Hyperkeratosis, Erythroderma, Pruritus, Chronic otitis media ORPHA:313
Lymphatic Malformation 4
Hyperkeratosis OMIM:615907
Van Den Bosch Syndrome
Acrokeratosis, Recurrent skin infections ORPHA:3417
De Sanctis-Cacchione Syndrome
Parakeratosis, Hypermelanotic macule, Keratitis, Conjunctivitis OMIM:278800
Xq27.3Q28 Duplication Syndrome
Sparse body hair ORPHA:261483
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Hydrocephalus-Obesity-Hypogonadism Syndrome
Absent facial hair, Sparse facial hair, Low posterior hairline ORPHA:2183
Phenylketonuria
Generalized hypopigmentation, Fair hair, Eczema, Scleroderma, Blue irides OMIM:261600
Congenital Non-Bullous Ichthyosiform Erythroderma
Ichthyosis, Pruritus, Erythroderma, Keratitis, Palmoplantar keratoderma ORPHA:79394
Alopecia-Intellectual Disability Syndrome
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair ORPHA:2850
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Acne inversa, Eczema, Subungual hyperkeratosis, Orthokeratosis OMIM:617337
Immunodeficiency 66
Pustule, Recurrent skin infections OMIM:618847
Localized Junctional Epidermolysis Bullosa
Atrophic, patchy alopecia, Dystrophic toenail, Sparse axillary hair, Scarring alopecia of scalp, ... ORPHA:251393
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Bullous Impetigo
Septic arthritis, Recurrent bacterial skin infections, Pustule ORPHA:36237
Flynn-Aird Syndrome
Hyperkeratosis OMIM:136300
Idiopathic Trachyonychia
Vitiligo, Ichthyosis, Atopic dermatitis, Circumungual hyperkeratosis ORPHA:79153
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis OMIM:147050
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Hereditary Mucoepithelial Dysplasia
Alopecia, Sparse hair, Fine hair ORPHA:1839
Ichthyosis With Confetti
Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythr... OMIM:609165
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Long eyelashes, Hirsutism, Thick eyebrow, Sparse hair, Low anterior hairline OMIM:616819
Trichothiodystrophy 8, Nonphotosensitive
Trichorrhexis nodosa, Sparse eyebrow, Sparse hair, Woolly hair OMIM:619691
Pachyonychia Congenita 3
Plantar hyperkeratosis, Palmar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosi... OMIM:615726
Pachyonychia Congenita 2
Dry hair, Sparse eyebrow, Sparse scalp hair, Nail dysplasia, Subungual hyperkeratosis, Nail dystr... OMIM:167210
Focal Facial Dermal Dysplasia Type Iii
Sparse lateral eyebrow, Abnormal hair pattern, Highly arched eyebrow, Sparse lower eyelashes, Dis... ORPHA:1807
Ramon Syndrome
Hyperkeratosis, Abnormality of retinal pigmentation ORPHA:3019
Gand Syndrome
Sparse hair OMIM:615074
Progeroid Syndrome, Petty Type
Brittle hair, Long eyelashes in irregular rows, Abnormality of the nail, Generalized hirsutism, A... ORPHA:2963
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Cutaneous abscess, Recurrent otitis media, Recurrent skin infections OMIM:618944
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Reticular hyperpigmentation, Recurrent pneumonia, Colitis, Hyperkeratosis, Genera... OMIM:301220
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Abnormality of hair texture OMIM:601957
Erosive Pustular Dermatosis Of The Scalp
Pustule ORPHA:222
Dracunculiasis
Skin rash, Pruritus, Recurrent cutaneous abscess formation, Arthritis ORPHA:231
Blepharocheilodontic Syndrome 1
High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Sparse hair OMIM:119580
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair ORPHA:2221
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Hyperparakeratosis ORPHA:276280
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair OMIM:273390
Lymphoproliferative Syndrome, X-Linked, 2
Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the large intestine, Colitis, Recurren... OMIM:300635
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash OMIM:619175
Keratolytic Winter Erythema
Pustule ORPHA:50943
Immunodeficiency 50
Eczema OMIM:300988
Peeling Skin Syndrome 1
Onycholysis, Nail dystrophy, Brittle hair OMIM:270300
Leopard Syndrome 3
Few cafe-au-lait spots, Hyperkeratosis, Epidermal hyperkeratosis, Multiple lentigines OMIM:613707
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse body hair, Sparse scalp hair, Sparse lateral eyebrow, Absent eyelashes, Absent nipple, Abs... OMIM:614941
Poikiloderma With Neutropenia
Conjunctivitis, Skin rash, Recurrent sinusitis, Plantar hyperkeratosis, Recurrent otitis media, R... OMIM:604173
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Orthokeratosis OMIM:308050
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Brittle hair, Slow-growing hair OMIM:616943
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Thickened skin, Seborrheic dermatitis, Acne OMIM:614441
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Woolly hair OMIM:605676
Androgen Insensitivity Syndrome
Sparse axillary hair, Absent facial hair, Sparse pubic hair OMIM:300068
Noonan Syndrome 8
Hyperpigmentation of the skin, Hyperkeratosis, Eczema OMIM:615355
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Growth Hormone Insensitivity Syndrome
Fine hair, Abnormality of the nail ORPHA:181393
Elastoderma
Eczema, Erysipelas ORPHA:228240
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Recurrent sinusitis, Eczema, Recurrent o... OMIM:618282
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Brittle hair, Reduced hair sulfur content, Sparse hair, Slow-... OMIM:300953
Ichthyosis, Congenital, Autosomal Recessive 2
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Hyperkeratosis, Hyper... OMIM:242100
Juvenile Idiopathic Arthritis
Thickened skin, Skin rash, Arthritis, Uveitis, Generalized hyperkeratosis, Psoriasiform dermatitis ORPHA:92
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse body hair, Alopecia, Sparse scalp hair, Absent eyelashes, Absent eyebrow ORPHA:69735
Filippi Syndrome
Hypertrichosis, Frontal hirsutism, Sparse hair OMIM:272440
Netherton Syndrome
Irregular hyperpigmentation, Ichthyosis, Erythroderma, Skin rash, Eczema, Congenital nonbullous i... ORPHA:634
Ifap Syndrome 2
Sparse hair, Nail dystrophy, Atrichia OMIM:619016
Lupus Erythematosus Tumidus
Depigmentation/hyperpigmentation of skin, Deep dermal perivascular inflammatory infiltrate ORPHA:90283
Hermansky-Pudlak Syndrome 9
Recurrent skin infections, Hypopigmentation of the skin, Ocular albinism OMIM:614171
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis OMIM:617066
Lelis Syndrome
Sparse lateral eyebrow, Yellow nails, Absent lower eyelashes, Abnormal toenail morphology, Sparse... ORPHA:140936
Milroy Disease
Hyperkeratosis, Erysipelas ORPHA:79452
Autoimmune Disease, Susceptibility To, 1
Vitiligo, Hashimoto thyroiditis OMIM:607836
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis ORPHA:300179
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis, Erythroderma OMIM:133190
Nicolaides-Baraitser Syndrome
Alopecia, Long eyelashes, Abnormal hair pattern, Highly arched eyebrow, Curly eyelashes, Sparse hair ORPHA:3051
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Sparse hair, Nail dystrophy OMIM:616353
Cranio-Osteoarthropathy
Mottled pigmentation, Arthritis, Eczema, Osteoarthritis ORPHA:1525
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:281090
Pemphigus Erythematosus
Acantholysis, Malar rash, Hypopigmented skin patches ORPHA:79480
Mycosis Fungoides
Psoriasiform dermatitis, Pruritus, Eczema OMIM:254400
Craniofrontonasal Dysplasia
Widow's peak, Ridged fingernail, Woolly hair, Low posterior hairline, Abnormality of hair texture ORPHA:1520
Anauxetic Dysplasia 2
Nail dysplasia, Small nail, Sparse hair OMIM:617396
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse eyebrow, Sparse hair OMIM:619989
Trichotillomania
Alopecia OMIM:613229
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Skin rash, Stomatitis, Pustule, Hyperkeratosis OMIM:612852
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Eczema, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus, Seborrh... ORPHA:83617
Iga Pemphigus
Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess, Pustule, Acantholys... ORPHA:555905
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Small nail, Sparse hair, Hypoplastic nipples OMIM:273400
Weaver Syndrome
Hypoplastic toenails, Fine hair, Deep-set nails, Abnormal fingernail morphology, Thin nail ORPHA:3447
Papillon-Lefèvre Syndrome
Periodontitis, Chronic furunculosis, Palmoplantar hyperkeratosis, Severe periodontitis, Hypopigme... ORPHA:678
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma OMIM:614457
Cronkhite-Canada Syndrome
Sparse body hair, Alopecia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Hypoplastic to... ORPHA:2930
Menkes Disease
Alopecia, Sparse hair, Brittle hair OMIM:309400
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Generalized hypopigmentation of hair, Inflammatory abnormality of th... ORPHA:238468
Ectodermal Dysplasia/Short Stature Syndrome
Palmoplantar keratoderma, Hyperkeratosis OMIM:616029
Pemphigus Foliaceus
Pruritus, Crusting erythematous dermatitis, Pustule, Erythroderma, Acantholysis, Psoriasiform der... ORPHA:79481
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis ORPHA:79099
Subcorneal Pustular Dermatosis
Hyperpigmentation of the skin, Pruritus, Pustule, Rheumatoid arthritis ORPHA:48377
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Sparse hair OMIM:183849
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Thickened skin, Seborrheic dermatitis, Acne OMIM:167100
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Aplasia/Hypoplasia of the eyebrow, Sparse hair ORPHA:261304
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Onycholysis, Fine hair ORPHA:1028
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin ORPHA:90159
Cardiofaciocutaneous Syndrome 4
Curly hair, Alopecia of scalp, Absent eyebrow, Sparse eyelashes, Sparse hair OMIM:615280
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Nail dystrophy, Coarse hair ORPHA:75389
Rapp-Hodgkin Syndrome
Sparse eyebrow, Small nail, Supernumerary nipple, Fine hair, Onychogryposis, Decreased number of ... OMIM:129400
Prolidase Deficiency
Pruritus, Crusting erythematous dermatitis, Abnormality of retinal pigmentation, White forelock, ... ORPHA:742
Acrofacial Dysostosis, Palagonia Type
Sparse lateral eyebrow, Pili torti, Thin eyebrow, Sparse eyelashes, Sparse hair, Low anterior hai... ORPHA:1787
Acrogeria
Fine hair ORPHA:2500
Familial Keratoacanthoma
Hyperkeratosis ORPHA:493
Intellectual Developmental Disorder, Autosomal Dominant 34
Synophrys, Curly hair, Coarse hair OMIM:616351
Reynolds Syndrome
Sclerodactyly, Irregular hyperpigmentation, Pruritus, Skin rash, Arthritis, Keratoconjunctivitis ... ORPHA:779
Vulto-Van Silfhout-De Vries Syndrome
Widow's peak, Horizontal eyebrow, Fine hair OMIM:615828
Adult Syndrome
Alopecia, Toenail dysplasia, Sparse scalp hair, Fingernail dysplasia, Absent nipple, Abnormality ... ORPHA:978
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Long eyelashes, Fine hair ORPHA:231137
Odontoonychodermal Dysplasia
Sparse body hair, Dystrophic toenail, Dry hair, Sparse scalp hair, Sparse eyebrow, Short nail, Fi... OMIM:257980
Cranioectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Abnormal toenail morphology ORPHA:1515
Inflammatory Bowel Disease 25, Autosomal Recessive
Pancolitis, Enterocolitis, Perianal abscess, Folliculitis OMIM:612567
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Arthritis, Myositis, Pustule, Increased inflammatory response, Acne ORPHA:69126
Pellagra-Like Syndrome
Skin rash OMIM:260650
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Abnormality of skin pigmentation, Keratoconjunctivitis sicca ORPHA:1806
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Skin rash... ORPHA:275
Intellectual Developmental Disorder, Autosomal Recessive 5
Synophrys, Thick eyebrow, Sparse hair OMIM:611091
Even-Plus Syndrome
Synophrys, Sparse hair, Highly arched eyebrow OMIM:616854
Rhizomelic Chondrodysplasia Punctata
Sparse body hair, Alopecia ORPHA:177
Noonan Syndrome 6