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Gene: Gk5 MGI:2443336

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
glycerol kinase 5
Synonyms:
C330018K18Rik,  G630067D24Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Gk5 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 Gk5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Central Centrifugal Cicatricial Alopecia
Scarring alopecia of scalp OMIM:618352
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis ORPHA:169095
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Hypotrichosis 15
Sparse scalp hair OMIM:620177
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys... OMIM:601705
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Alopecia of scalp, Trichodysplasia ORPHA:79129
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
L-Ferritin Deficiency
Alopecia OMIM:615604
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Candidiasis, Familial, 1
Alopecia OMIM:114580
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis OMIM:617756
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergranulosis, Palmoplantar hyperker... OMIM:615598
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... OMIM:117850
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia ORPHA:69125
Kerion Celsi
Recurrent cutaneous abscess formation, Alopecia ORPHA:499
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Epidermolytic Palmoplantar Keratoderma
Abnormal fingernail morphology, Interphalangeal joint contracture of finger, Hypergranulosis, Epi... ORPHA:2199
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism ORPHA:2297
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia ORPHA:346
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... ORPHA:129
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Ridged nail, Acrokeratosis OMIM:101900
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin, Generalized hirsutism ORPHA:2812
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Epidermolysis Bullosa, Junctional 5A, Intermediate
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... OMIM:619816
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp... ORPHA:2200
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratosis, Nail dystrophy, Ichthyosis ORPHA:79503
Ectodermal Dysplasia-Syndactyly Syndrome 2
Hyperhidrosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosif... OMIM:613576
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Hyperhidrosis, Orthokeratotic hyperke... OMIM:148700
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Flexio... OMIM:614594
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dyst... OMIM:212360
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Atrophi... ORPHA:89838
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Bathing Suit Ichthyosis
Parakeratosis, Alopecia, Multiple joint contractures, Thickened skin, Palmoplantar hyperkeratosis... ORPHA:100976
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Nail dystrophy, Abnormally low T cell receptor excision circle level OMIM:618806
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma OMIM:244850
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Hyperk... OMIM:602400
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Alopecia, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyp... ORPHA:79395
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Ichthyosis, Congenital, Autosomal Recessive 2
Anhidrosis, Alopecia, Thin nail, Hypergranulosis, Abnormal hair morphology, Hypohidrosis, Hyperke... OMIM:242100
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Epidermolysis Bullosa, Junctional 1A, Intermediate
Plantar hyperkeratosis, Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Enamel hypoplas... OMIM:226650
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Porphyria Cutanea Tarda
Facial hypertrichosis, Alopecia, Onycholysis OMIM:176100
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker... ORPHA:79397
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis ORPHA:735
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail ORPHA:1882
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin, Patchy alopecia, Scarring OMIM:247100
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair, Hypothy... OMIM:618625
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Atrophic scars, Nail dystrophy OMIM:131850
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmoplantar hyperhidrosis ORPHA:498359
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Trichotillomania
Alopecia OMIM:613229
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail ORPHA:2251
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Oliver-Mcfarlane Syndrome
Sparse hair, Alopecia, Long eyelashes, Long eyebrows OMIM:275400
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Abnormality of... ORPHA:90368
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Alopecia, Flexion contracture, Palmoplantar hyperkeratosis, Congenital ichthyosifo... OMIM:242300
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... OMIM:224750
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... OMIM:618546
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... OMIM:619208
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Congenital Ichthyosiform Erythroderma
Alopecia, Hypohidrosis, Palmoplantar keratoderma, Ichthyosis, Abnormality of the nail ORPHA:79394
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor... ORPHA:494
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... OMIM:601952
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Systemic Lupus Erythematosus 17
Alopecia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia, Thrombocytopenia OMIM:301080
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia, Alopecia of scalp OMIM:136300
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... OMIM:300918
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis OMIM:606445
Recessive X-Linked Ichthyosis
Hyperkeratosis, Hypohidrosis, Ichthyosis ORPHA:461
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia, Joint contracture OMIM:615704
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hyperkeratosis, Plantar hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis ORPHA:79399
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells... ORPHA:169154
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... ORPHA:2457
Pachyonychia Congenita
Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex... ORPHA:2309
Erythrokeratodermia Variabilis
Alopecia, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Generalized hirsutism, Hy... ORPHA:317
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair ORPHA:2985
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Sparse hair, Alopecia, Long eyelashes ORPHA:3363
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Hypohidrosis, Nai... OMIM:617337
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na... ORPHA:79153
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenails, Fine hai... ORPHA:1028
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair, Pili torti OMIM:607903
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Ichthyosis, Congenital, Autosomal Recessive 3
Anhidrosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyo... OMIM:606545
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617526
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Sm... OMIM:610644
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Flexion contracture, Ichthyosis, Sparse body hair, Aplasia/Hypoplasi... ORPHA:2850
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Lymphocytosis,... OMIM:258360
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Thin nail, Hypergranulosis, Sho... OMIM:257980
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Fibrodysplasia Ossificans Progressiva
Alopecia, Anemia ORPHA:337
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Co... OMIM:612281
Dystrophic Epidermolysis Bullosa Pruriginosa
Scarring, Hyperkeratosis, Atrophic scars, Nail dystrophy, Abnormal toenail morphology ORPHA:89843
Bazex Syndrome
Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Acanthosis... ORPHA:166113
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Anhidrosis, Alopecia, Abnormal fingernail morphology, Thickened skin, Palmoplantar keratoderma, P... ORPHA:659
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti ORPHA:1573
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Generalized lipodystrop... OMIM:612526
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Hypohidrosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, ... OMIM:615023
Classic Mycosis Fungoides
Splenomegaly, Alopecia, Abnormal lymphocyte morphology, Abnormality of the nail ORPHA:2584
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Anhidrosis, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse... OMIM:604536
Alpha-Heavy Chain Disease
Splenomegaly, Alopecia, Anemia ORPHA:100025
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis,... OMIM:615821
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair, Hyperhidrosis OMIM:615279
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Sparse eyebrow, Elbow flexion contracture, Corneal scarring, Absent... OMIM:148210
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... OMIM:607823
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital... OMIM:607602
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp... OMIM:612843
Acrokeratoelastoidosis Of Costa
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratotic papule, Palmar hyper... ORPHA:38
Ulerythema Ophryogenesis
Hyperkeratotic papule, Follicular hyperkeratosis, Sparse lateral eyebrow ORPHA:3406
Cronkhite-Canada Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Splenomegaly, Aplasia/Hypoplasia ... ORPHA:2930
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Al... OMIM:615559
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Camptodactyly of finger, Hyperkeratosis, Coarse hair, Joint contracture of the 5th ... ORPHA:1883
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Orthokeratosis OMIM:607936
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... ORPHA:79151
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Follicula... OMIM:613102
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Abnormal dental enamel morphology, Hypohidrosis, Hyperkeratosis, Ichthyosis, Sparse hai... ORPHA:1005
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Synophrys, Palmoplantar hyper... ORPHA:3253
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Ichthyosis, Congenital, Autosomal Recessive 14
Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:617571
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Atypical scarring of skin, Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis ORPHA:1366
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair ORPHA:69735
Acquired Ichthyosis
Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis ORPHA:454
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Hyperker... OMIM:610768
Ramon Syndrome
Hyperkeratosis, Abnormal dental enamel morphology, Generalized hirsutism ORPHA:3019
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow OMIM:614564
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Generalized ichthyosis, Absent ax... ORPHA:2269
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Hypohidrosis, Ichthyosis ORPHA:281090
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Alopecia, Increased mean platelet volume OMIM:617443
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Dorsocervical fat pad, Increased circulating cortisol level, Primary hypercortisolism, ... OMIM:615830
Localized Junctional Epidermolysis Bullosa
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... ORPHA:251393
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
Proteus Syndrome
Lipoma, Hyperkeratosis, Multiple lipomas OMIM:176920
Hereditary Mucoepithelial Dysplasia
Sparse hair, Hyperkeratosis, Alopecia, Fine hair ORPHA:1839
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Hypohidrosis, Fine hair, Hyperkeratosis, Sparse hair ORPHA:1806
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis, Nail dystrophy OMIM:175900
Lichen Planopilaris
Hyperkeratosis, Alopecia, Onycholysis, Abnormal fingernail morphology ORPHA:525
Nicolaides-Baraitser Syndrome
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair ORPHA:3051
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Xerostomia, Hypohidrosis, Hyperkeratosis, Aplasia/Hypo... ORPHA:238468
Atrophoderma Vermiculata
Atrophic scars, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... OMIM:608612
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Flexion contracture, Ichthyosis OMIM:215100
Omenn Syndrome
Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Aplasia/Hypoplasia of the eyebrow, Abnormal l... ORPHA:39041
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair, Ichthyosis, O... OMIM:607626
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Alopecia, Reduced subcutaneous a... OMIM:248370
Omenn Syndrome
Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t... OMIM:603554
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Corneal scarring, Hypohidrosis, Hyperkeratosis, Frontal upsweep of hair, Broad eyebrow OMIM:301220
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... OMIM:129400
Pachyonychia Congenita 3
Plantar hyperkeratosis, Onychogryposis of toenails, Hyperhidrosis, Palmoplantar keratoderma, Nail... OMIM:615726
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Abnormal dental enamel morphology, Trichiasis, Hypohidrosis, Atypical scarring of... OMIM:601701
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Nail pits, Anemia, Leukopenia, Premature graying of hair,... OMIM:127550
Sézary Syndrome
Splenomegaly, Alopecia, Abnormal lymphocyte morphology, Nail dystrophy ORPHA:3162
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, Alopecia, Congenital abnormal hair pattern, Atrichia ORPHA:1867
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Alopecia, Abnormal fingernail morphology, Primary adrenal insufficiency, Incr... ORPHA:3453
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail, Hyperhidrosis ORPHA:28378
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Flexion contracture, Absence of subcutaneous fat, Fine hair, Hyperke... OMIM:601675
Cole Disease
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:615522
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Atrophic scars, Hernia, Follicular hyperkeratosis ORPHA:300179
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dyst... OMIM:308800
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Hypohidrosis, Sparse hair ORPHA:2316
Sjögren-Larsson Syndrome
Hyperkeratosis, Abnormal dental enamel morphology, Ichthyosis ORPHA:816
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant... OMIM:605676
Autosomal Dominant Epidermolytic Ichthyosis
Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma ORPHA:312
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Hypomelanosis Of Ito
Alopecia OMIM:300337
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair, Ichthyosis ORPHA:177
Lymphatic Malformation 4
Hyperkeratosis, Toenail dysplasia, Cellulitis OMIM:615907
Lipoid Proteinosis
Hyperkeratosis, Thickened skin, Alopecia of scalp, Scarring ORPHA:530
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Enamel hypoplasia, Anonychia OMIM:616029
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis OMIM:613943
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Alopecia, Lipoatrophy, Lack of facial subcutaneous fat, Abse... ORPHA:90156
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Alopecia, Nail dystrophy OMIM:616353
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Central adrenal insufficiency, Alopecia, Limb joint contracture, Reduced subcutaneous adipose tissue OMIM:612079
Satoyoshi Syndrome
Alopecia, Alopecia universalis OMIM:600705
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Lamellar Ichthyosis
Hyperkeratosis, Ichthyosis, Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Leopard Syndrome 3
Hyperkeratosis, Curly hair, Low posterior hairline, Epidermal hyperkeratosis OMIM:613707
Pachyonychia Congenita 1
Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis OMIM:167200
Incontinentia Pigmenti
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Co... OMIM:308300
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... ORPHA:978
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Brittle hair, Nail dystrophy ORPHA:75389
Pachyonychia Congenita 2
Subungual hyperkeratosis, Dry hair, Sparse scalp hair, Sparse eyebrow, Palmoplantar hyperkeratosi... OMIM:167210
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Ne... OMIM:304790
Naxos Disease
Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... OMIM:601214
Ichthyosis Prematurity Syndrome
Alopecia of scalp, Generalized ichthyosis, Follicular hyperkeratosis OMIM:608649
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail OMIM:609638
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy OMIM:618373
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe... OMIM:137940
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Alopecia, Aplastic anemia, Fine hair, Premature graying of hair, Leukopenia, Nail d... OMIM:613990
Congenital Disorder Of Glycosylation, Type Iq
Hyperkeratosis, Hypertrichosis, Ichthyosis OMIM:612379
Donohue Syndrome
Adipose tissue loss, Hyperkeratosis, Pancreatic islet-cell hyperplasia, Nail dysplasia, Acanthosi... OMIM:246200
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Immunodeficiency 7
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Patchy alopecia, Neutropenia OMIM:615387
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Palmoplantar keratoderma, Ichthyosis, Sparse hair, Fragile nails OMIM:242150
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Sparse scalp hair ORPHA:2611
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Menkes Disease
Sparse hair, Alopecia, Brittle hair OMIM:309400
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Thin eyebrow ORPHA:3242
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Premature graying of hair, S... ORPHA:363618
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Sterile abscess, Eosinophilia, Cutaneous abscess OMIM:618282
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Flexion contracture, Camptodactyly ORPHA:88630
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
H Syndrome
Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Lipodystrophy, Hernia, Ichthyosis, S... ORPHA:168569
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Inguinal hernia, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Jo... OMIM:614457
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis OMIM:133200
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Costello Syndrome
Deep-set nails, Abnormal fingernail morphology, Abnormal dental enamel morphology, Concave nail, ... ORPHA:3071
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppre... ORPHA:189427
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Abnormal hair morphology, Hyperlipidemia, Generalized lipodystrophy, Nail dystrophy ORPHA:90154
Fucosidosis
Generalized hyperkeratosis, Lipoatrophy, Hyperhidrosis, Hypothyroidism, Abnormality of the nail ORPHA:349
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow OMIM:261990
Incontinentia Pigmenti
Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morphology, Supernumerary nipple... ORPHA:464
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Onycholysis, Fol... OMIM:616295
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Anemia, Neutropenia, Thrombocytopenia ORPHA:47
Cahmr Syndrome
Generalized hypertrichosis OMIM:211770
Ichthyosis, Annular Epidermolytic, 2
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis OMIM:620148
Prolidase Deficiency
Abnormal fingernail morphology, Low anterior hairline, Hyperkeratosis, Palmoplantar keratoderma, ... ORPHA:742
Mucoepithelial Dysplasia, Hereditary
Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilia... OMIM:158310
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Small nail OMIM:614219
Chilblain Lupus
Hyperkeratosis ORPHA:90280
Alstrom Syndrome
Alopecia, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Acanthosis... OMIM:203800
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Holocarboxylase Synthetase Deficiency
Alopecia, Thrombocytopenia ORPHA:79242
Netherton Syndrome
Sparse scalp hair, Parakeratosis, Brittle hair, Brittle scalp hair, Sparse eyebrow, Congenital no... OMIM:256500
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Follicular hyperkeratosis OMIM:615147
Werner Syndrome
Sparse scalp hair, Lipodystrophy, Lipoatrophy, Abnormal hair whorl, Premature graying of hair, Hy... ORPHA:902
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Bresek Syndrome
Alopecia, Ichthyosis ORPHA:85284
Flynn-Aird Syndrome
Alopecia, Primary adrenal insufficiency ORPHA:2047
Congenital Disorder Of Glycosylation, Type Iil
Hyperkeratosis, Enamel hypoplasia, Hypohidrosis OMIM:614576
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans OMIM:618527
Noonan Syndrome 8
Hyperkeratosis, Curly hair OMIM:615355
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Nail dystrophy, Palmoplantar hyperkeratosis ORPHA:158681
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis OMIM:615225
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Hyperlipidemia, Flexion contracture, Bre... ORPHA:90153
Ane Syndrome
Alopecia, Multiple joint contractures, Lipoatrophy, Decreased response to growth hormone stimulat... ORPHA:157954
Adams-Oliver Syndrome
Alopecia, Aplastic/hypoplastic toenail, Leukopenia, Absent fingernail, Sparse hair, Thrombocytope... ORPHA:974
Ectodermal Dysplasia-Skin Fragility Syndrome
Scarring, Hypohidrosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Spar... ORPHA:158668
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes OMIM:616367
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Inguinal hernia, Absent eyelashes, Small nail, Ichthyosis ORPHA:166035
Neutral Lipid Storage Disease With Ichthyosis
Alopecia, Hypertriglyceridemia, Congenital nonbullous ichthyosiform erythroderma ORPHA:98907
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Psoriasis 2
Hyperkeratosis, Parakeratosis OMIM:602723
Kury-Isidor Syndrome
Alopecia, Hypertrichosis OMIM:619762
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Alopecia, Nail dystrophy, Anemia OMIM:175500
Monosomy 18P
Alopecia, Hypothyroidism, Low posterior hairline ORPHA:1598
Ullrich Congenital Muscular Dystrophy 1
Flexion contracture, Follicular hyperkeratosis, Hyperhidrosis OMIM:254090
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hyperkeratosis, High anterior hairline, Adrenal insufficiency, Hypohidrosis OMIM:615510
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism ORPHA:79431
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Harlequin Ichthyosis
Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis ORPHA:457
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis OMIM:613736
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypergranulosis, Acantholysis, Palmoplantar keratoderma, Sparse hair, Ichthyosis, Orthokeratosis OMIM:615508
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Sparse eyebrow, Low posterior hairline, Hyperkeratosis, Palmoplantar kera... OMIM:604173
Lichen Planus Pemphigoides
Hyperkeratosis, Abnormality of the nail ORPHA:254478
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Low posterior hairline, Hyperhid... OMIM:115150
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Joint contracture, Follicular hyperkeratosis OMIM:617066
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple ORPHA:3224
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Eec Syndrome
Slow-growing hair, Decreased response to growth hormone stimulation test, Abnormal dental enamel ... ORPHA:1896
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Hyperthyroidism, Primary adrenal insufficiency, Steatorrhea, Hypothyroidism, Exocrine p... OMIM:269200
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt... OMIM:604777
Irida Syndrome
Hyperkeratosis, Ichthyosis ORPHA:209981
Pediatric Systemic Lupus Erythematosus
Alopecia, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia ORPHA:93552
Keutel Syndrome
Alopecia ORPHA:85202
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Alopecia, Decreased circulating aldosterone level, Primary adrenal insufficie... OMIM:240300
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans ORPHA:409
Hemochromatosis, Type 1
Splenomegaly, Alopecia OMIM:235200
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog... ORPHA:1775
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Low posterior hairline, Fine hair, ... ORPHA:1340
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo... ORPHA:158687
Bartsocas-Papas Syndrome
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... ORPHA:1234
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Alopecia, Nail dystrophy, Anemia OMIM:226600
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis ORPHA:79279
Gomez-Lopez-Hernandez Syndrome
Alopecia, Decreased response to growth hormone stimulation test OMIM:601853
Short Syndrome
Inguinal hernia, Alopecia, Lipodystrophy, Abnormal dental enamel morphology, Sparse hair ORPHA:3163
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis OMIM:618531
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Alopecia, Low posterior hairline, Microcytic anemia ORPHA:2959
Macs Syndrome
Alopecia, Sparse eyebrow, Ichthyosis, Sparse hair, Umbilical hernia OMIM:613075
Kid Syndrome
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Hypohidrosis, Knee flexion contract... ORPHA:477
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Follicular hyperkeratosis ORPHA:486815
Satoyoshi Syndrome
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis ORPHA:3130
Vulvovaginal Gingival Syndrome
Ridged nail, Parakeratosis ORPHA:83453
Bone Marrow Failure Syndrome 3
Amelogenesis imperfecta, Hyperkeratosis, Nail dystrophy, Small nail, Hernia, Sparse hair, Enamel ... OMIM:617052
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse hair OMIM:613451
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela... ORPHA:544488
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Hypothyroidism, Pancreatitis ORPHA:412057
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Dowling-Degos Disease
Hyperkeratosis, Hyperkeratotic papule, Abnormal fingernail morphology ORPHA:79145
Bethlem Myopathy
Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle flexion contractu... ORPHA:610
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hyperkeratosis with erythema, Knee flexion contracture, Coarse hair, Sparse hair OMIM:118650
Sialidosis Type 1
Hyperkeratosis, Hernia ORPHA:812
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Severe B lymphocytopenia, Alopecia totalis, Autoimmune thrombocytopenia, Nail dystrophy... ORPHA:293978
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Alopecia, Flexion contracture, Hyperkeratosis, Congenital ichthyosiform erythroder... OMIM:308050
Chromomycosis
Hyperkeratosis, Hyperparakeratosis, Hyperkeratotic papule, Atypical scarring of skin ORPHA:182
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Celiac Disease, Susceptibility To, 1
Alopecia, Thyroiditis, Enamel hypoplasia, Steatorrhea OMIM:212750
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Hyperparathyroidism, Abnormal adipose tissue morphology ORPHA:93160
Lymphatic Malformation 12
Hyperkeratosis, Inguinal hernia OMIM:620014
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Ridged fingernail, Abnormality of... ORPHA:37
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Thickened skin, Palmoplantar hyperkeratosis, Hyperkeratosis, Sparse hair, Keloids, J... OMIM:601812
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Subungual hyperkeratosis, Alopecia, Absent eyebrow, Sparse scalp hair, I... OMIM:308205
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Patchy alopecia ORPHA:85279
Holocarboxylase Synthetase Deficiency
Alopecia, Thrombocytopenia OMIM:253270
Milroy Disease
Hyperkeratosis, Toenail dysplasia, Cellulitis ORPHA:79452
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Thickened skin, Loss of eyelashes, Corneal scarring, Atypical scarring ... OMIM:263700
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Nail dystrophy, Anemia OMIM:620040
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Palmoplantar keratode... OMIM:106260
Mixed Connective Tissue Disease
Splenomegaly, Leukopenia, Alopecia, Hemolytic anemia ORPHA:809
Mogs-Cdg
Alopecia, Thrombocytopenia, Hepatosplenomegaly, Long eyelashes, Fair hair, Hirsutism ORPHA:79330
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis ORPHA:36386
Systemic Sclerosis
Alopecia, Nail bed telangiectasia, Thickened skin, Flexion contracture, Hypohidrosis, Sclerodactyly ORPHA:90291
Adrenoleukodystrophy
Alopecia, Primary adrenal insufficiency OMIM:300100
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hernia ORPHA:1647
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont... ORPHA:35173
Leprosy
Absent eyebrow, Alopecia, Loss of eyelashes, Hypohidrosis, Hyperkeratosis, Sparse body hair ORPHA:548
Johanson-Blizzard Syndrome
Alopecia, Abnormal hair pattern, Anemia ORPHA:2315
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Alopecia, Widened atrophic scar, Hypertriglyceridemia, Inguinal hernia, Celluliti... ORPHA:536532
Leprechaunism
Facial hypertrichosis, Reduced subcutaneous adipose tissue, Thickened skin, Central hypothyroidis... ORPHA:508
Chronic Mucocutaneous Candidiasis
Abnormal fingernail morphology, Abnormal dental enamel morphology, Broad nail, Hyperkeratosis, Ab... ORPHA:1334
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Inguinal hernia, Hyperkeratosis, Loose anagen hair, Long eyelashes... OMIM:607721
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Hypertriglyceridemia, Lipoatrophy, Abnormal hair morphology, Ab... ORPHA:79474
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Absent eyebrow, Alopecia, Thin fingernail, Inguinal hernia, Abnormal dental enamel m... ORPHA:2273
Giant Cell Arteritis
Alopecia, Hyperhidrosis ORPHA:397
Polyendocrine-Polyneuropathy Syndrome
Alopecia ORPHA:453533
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Umbilical hernia ORPHA:2067
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Alopecia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in ... ORPHA:37042
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Ichthyosis OMIM:163200
Immunodeficiency, Common Variable, 10
Trachyonychia, Alopecia totalis OMIM:615577
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Decreased circulating cortisol level, Hirsutism ORPHA:90795
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis OMIM:618084
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... ORPHA:2232
Rothmund-Thomson Syndrome
Plantar hyperkeratosis, Porokeratosis, Sparse eyelashes, Alopecia totalis, Abnormal dental enamel... ORPHA:2909
Punctate Palmoplantar Keratoderma Type 1
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Orthokera... ORPHA:79501
Encephalocraniocutaneous Lipomatosis
Lipoma, Alopecia, Multiple central nervous system lipomas, Subcutaneous lipoma OMIM:613001
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Alopecia totalis, Thrombocytopenia OMIM:618775
Neonatal Lupus Erythematosus
Hyperkeratosis, Parakeratosis ORPHA:398124
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis OMIM:610227
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... OMIM:268400
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Flexion contracture OMIM:609180
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Scarring, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, Enamel hypoplasia, ... ORPHA:79396
Colchicine Poisoning
Alopecia, Leukocytosis ORPHA:31824
Psoriasis 14, Pustular
Parakeratosis, Nail dystrophy OMIM:614204
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre... OMIM:230740
Leigh Syndrome
Alopecia, Neutropenia, Frontal hirsutism, Anemia, Hypertrichosis ORPHA:506
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Lipoatrophy, Sparse eyebrow, Flexion contracture, ... OMIM:614008
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasi... ORPHA:69085
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Leukopenia, Aplasia/Hypoplasia of the s... ORPHA:227990
Focal Dermal Hypoplasia
Omphalocele, Alopecia, Inguinal hernia, Abnormal dental enamel morphology, Congenital diaphragmat... ORPHA:2092
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis ORPHA:163966
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Hyperlipidemia, Fine hair OMIM:241080
Noonan Syndrome 2
Curly hair, Sparse eyebrow, Low posterior hairline, Hyperkeratosis, Arthrogryposis multiplex cong... OMIM:605275
Gaucher Disease, Perinatal Lethal
Hyperkeratosis, Arthrogryposis multiplex congenita, Congenital nonbullous ichthyosiform erythrode... OMIM:608013
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Inguinal hernia, Sparse eyelashes, Decreased response to growth hormone stimul... OMIM:129900
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Leukopenia, Aplasia/Hypoplasia of the s... ORPHA:227982
Rothmund-Thomson Syndrome Type 1
Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Abnormal dental enamel morphology, Spars... ORPHA:221008
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Ridged nail, Pancytopenia, Split nail, Alopecia, Sparse eyelashes, Pteryg... OMIM:305000
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Secondary hyperparathyroidism, Alopecia universalis OMIM:277440
Biotinidase Deficiency
Splenomegaly, Alopecia OMIM:253260
Distal Deletion 19P
Alopecia, Vaginal hernia, Umbilical hernia, Keloids, Thick eyebrow ORPHA:96129
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Thickened skin, Hyperkeratosis, Long... ORPHA:79430
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body... ORPHA:2108
Fabry Disease
Hyperkeratosis, Hyperlipidemia, Hypohidrosis ORPHA:324
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617388
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Sparse eyelashes, Decreased response to growth hormone stimulation test, Spars... OMIM:604292
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Lipoma, Hyperkeratosis, Pilomatrixoma OMIM:620189
Noonan Syndrome 10
Sparse eyebrow, Hyperkeratosis, Curly hair OMIM:616564
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia OMIM:210210
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis OMIM:133190
Bartsocas-Papas Syndrome 1
Omphalocele, Absent eyebrow, Alopecia, Sparse scalp hair, Inguinal hernia, Alopecia totalis, Abse... OMIM:263650
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Thickened skin, Fine hair, Hypohidrosis, Multiple lipoma... OMIM:181270
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Parakeratosis ORPHA:284426
Woodhouse-Sakati Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Hyperlipidemia, Hypothyroidism, ... ORPHA:3464
Rothmund-Thomson Syndrome Type 2
Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Abnormal dental enamel morphology, Spars... ORPHA:221016
Kikuchi-Fujimoto Disease
Alopecia, Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia ORPHA:50918
Subacute Cutaneous Lupus Erythematosus
Hyperkeratosis ORPHA:163525
Insulin-Resistance Syndrome Type B
Leukopenia, Alopecia, Hirsutism, Thrombocytopenia ORPHA:2298
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Abnormality of the nail ORPHA:428
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis ORPHA:64745
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Congenital ichthyosiform erythroderma, Patchy alopecia, Congeni... OMIM:302960
Chime Syndrome
Sparse hair, Hyperkeratosis, Fine hair, Ichthyosis ORPHA:3474
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Hypertriglyceridemia, Alo... OMIM:264090
Localized Scleroderma
Abnormal skin adnexa morphology, Fasciitis, Thickened skin, Flexion contracture, Patchy alopecia,... ORPHA:90289
Acute Radiation Syndrome
Hyperkeratosis ORPHA:454831
Xeroderma Pigmentosum
Hyperkeratosis, Thickened skin, Alopecia ORPHA:910
Familial Keratoacanthoma
Hyperkeratosis ORPHA:493
Reactive Arthritis
Hyperkeratosis, Dystrophic fingernails, Abnormality of the nail, Enthesitis ORPHA:29207
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Decreased response to growth hormone stimulation test, Primary adrenal insufficiency, H... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Primary adrenal insufficiency, H... ORPHA:363958
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hyperkeratosis OMIM:612852
Systemic Lupus Erythematosus
Leukopenia, Alopecia, Hemolytic anemia, Thrombocytopenia ORPHA:536
Meige Disease
Atypical scarring of skin, Cobblestone-like hyperkeratosis, Cellulitis ORPHA:90186
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Abnormal dental enamel morphology, Coarse hair, Sparse hair, Exocrine pan... ORPHA:2750
Phakomatosis Pigmentokeratotica
Patchy alopecia, Hyperhidrosis ORPHA:2874
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Multiple lipomas, Alopecia, Lipodystrophy ORPHA:2396
Biotinidase Deficiency
Alopecia ORPHA:79241
Ramon Syndrome
Hyperkeratosis, Hypertrichosis OMIM:266270
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick... ORPHA:73223
Autosomal Recessive Robinow Syndrome
Alopecia, Inguinal hernia, Camptodactyly of finger, Long eyelashes, Fingernail dysplasia, Umbilic... ORPHA:1507
Autosomal Dominant Robinow Syndrome
Alopecia, Inguinal hernia, Femoral hernia, Camptodactyly of finger, Curly eyelashes, Long eyelash... ORPHA:3107
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Sparse eyelashes, Abscess, ... ORPHA:125
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Leukocytosis OMIM:619321
Linear Nevus Sebaceus Syndrome
Alopecia ORPHA:2612
Mycetoma
Cobblestone-like hyperkeratosis ORPHA:2583
Orofaciodigital Syndrome I
Sparse hair, Alopecia, Dry hair, Enamel hypoplasia OMIM:311200
Steinert Myotonic Dystrophy
Alopecia, Abnormality of thyroid physiology, Decreased response to growth hormone stimulation tes... ORPHA:273
Juvenile Dermatomyositis
Alopecia ORPHA:93672
Kindler Epidermolysis Bullosa
Abnormal dental enamel morphology, Camptodactyly of finger, Flexion contracture, Atypical scarrin... ORPHA:2908
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Hip contracture, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro... OMIM:210710
Chronic Graft Versus Host Disease
Alopecia, Fasciitis, Thickened skin, Flexion contracture, Xerostomia, Onycholysis, Nail dystrophy... ORPHA:99921
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Paronychia, Nail dystrophy, Anonychia, Abnormality of the nail, Anemia ORPHA:79404
Sympathetic Ophthalmia
Alopecia, Poliosis ORPHA:79098
Restrictive Dermopathy
Multiple joint contractures, Short nail, Camptodactyly of finger, Epidermal hyperkeratosis, Spars... ORPHA:1662
6Q Terminal Deletion Syndrome
Hyperkeratosis, Low anterior hairline, Highly arched eyebrow ORPHA:75857
Sarcoidosis
Hemolytic anemia, Alopecia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocyto... ORPHA:797
Kyphoscoliotic Ehlers-Danlos Syndrome
Inguinal hernia, Synophrys, Atypical scarring of skin, Follicular hyperkeratosis, Umbilical hernia ORPHA:536545
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Umbilical hernia, Inguinal hernia, Atrophic scars, Follicular hyperkeratosis OMIM:614557
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Increased circulating gonadotropi... ORPHA:99413
Turner Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Increased circulating gonadotropi... ORPHA:881
Mosaic Monosomy X
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Increased circulating gonadotropi... ORPHA:99228
Monosomy X
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Increased circulating gonadotropi... ORPHA:99226
Lymphatic Filariasis
Orchitis, Hyperkeratosis ORPHA:2035
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow ORPHA:2636
Hemihyperplasia-Multiple Lipomatosis Syndrome
Multiple lipomas, Hyperparakeratosis, Lipoatrophy ORPHA:276280
Adams-Oliver Syndrome 1
Alopecia, Supernumerary nipple, Small nail OMIM:100300
Behcet Syndrome
Patchy alopecia OMIM:109650
Restrictive Dermopathy 1
Sparse eyelashes, Short nail, Limb joint contracture, Epidermal hyperkeratosis, Absent eyelashes,... OMIM:275210
African Trypanosomiasis
Abnormal prolactin level, Alopecia, Abnormality of circulating cortisol level ORPHA:3385
De Sanctis-Cacchione Syndrome
Parakeratosis OMIM:278800
Relapsing Polychondritis
Alopecia ORPHA:728
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Contracture of the distal interphalangeal joint of the fingers, Parakeratosis, Coarse hair, Ingui... ORPHA:83617
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hyperkeratosis ORPHA:79280
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Inguinal hernia, Follicular hyperkeratosis OMIM:225400
Ring Chromosome 13 Syndrome
Alopecia, Primary hypothyroidism ORPHA:96176
Cowden Syndrome
Lipoma, Palmoplantar keratoderma, Generalized hyperkeratosis ORPHA:201
Pallister-Killian Syndrome
Omphalocele, Sparse scalp hair, Alopecia, Anhidrosis, Sparse eyelashes, Inguinal hernia, Supernum... OMIM:601803
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Alopecia totalis, Loss of eyelashes, Absence of subcutaneous fat, Patchy alopecia... ORPHA:740
Proteus Syndrome
Abnormal dental enamel morphology, Thickened skin, Abnormal subcutaneous fat tissue distribution,... ORPHA:744
Kanzaki Disease
Hyperkeratosis OMIM:609242
Viss Syndrome
Sparse scalp hair, Alopecia, Inguinal hernia, Hypothyroidism, Umbilical hernia, Contracture of th... OMIM:619472
Focal Dermal Hypoplasia
Ridged nail, Omphalocele, Inguinal hernia, Brittle hair, Supernumerary nipple, Congenital diaphra... OMIM:305600
Warburg-Cinotti Syndrome
Ankle flexion contracture, Elbow flexion contracture, Follicular hyperkeratosis, Flexion contract... OMIM:618175
Vascular Ehlers-Danlos Syndrome
Alopecia, Inguinal hernia, Abnormality of hair texture, Abnormal eyelash morphology, Cigarette-pa... ORPHA:286

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gk5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gk5.

No publications found that use IMPC mice or data for Gk5.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Gk5tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gk5tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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