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Gene: Ksr1 MGI:105051

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

kinase suppressor of ras 1

Synonyms:

D11Bhm183e, B-KSR1, D11Bhm184e

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 Ksr1 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.

Human diseases associated with Ksr1 (0 diseases)
Human diseases predicted to be associated with Ksr1 (596 diseases)

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

The table below shows human diseases predicted to be associated to Ksr1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Syringocystadenoma Papilliferum	Nevus sebaceous, Subcutaneous nodule, Sparse scalp hair, Papule	ORPHA:840
Hypotrichosis 1	Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S...	OMIM:605389
Hypotrichosis Simplex	Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia	ORPHA:55654
Hypotrichosis 4	Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia	OMIM:146550
Alopecia Universalis Congenita	Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis	OMIM:203655
Alopecia Areata 2	Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia	OMIM:610753
Darier Disease	Hypermelanotic macule, Abnormal hair morphology, Abnormality of the nail, Macule, Acrokeratosis, ...	ORPHA:218
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Localized skin lesion, Nail dystrophy, Milia, Small nail, Erythematous papule, Atrophic scars, At...	ORPHA:79410
Hypotrichosis 10	Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow	OMIM:614238
Alopecia Areata 1	Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis	OMIM:104000
Hypotrichosis 11	Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,...	OMIM:615059
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Sparse body hair, Dermal atrop...	OMIM:617294
Odonto-Onycho Dysplasia-Alopecia Syndrome	Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai...	ORPHA:2722
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Alopecia	ORPHA:505
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Ectodermal Dysplasia 6, Hair/Nail Type	Thin toenail, Dystrophic toenail, Sparse hair, Alopecia	OMIM:614928
Hypotrichosis And Recurrent Skin Vesicles	Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla...	OMIM:613102
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Trichodysplasia-Xeroderma Syndrome	Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Dry skin, Sparse body hair, S...	ORPHA:3361
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia of scalp, Alopecia	OMIM:260910
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Nail pits, Congenital alopecia totalis, Ridged nail	ORPHA:169095
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Parc Syndrome	Alopecia, Absent eyelashes, Absent eyebrow	OMIM:600331
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hypoplastic fingernail, Hyperconvex fingernails, Aplasia/Hypoplasia of the skin, Papule, Skin ves...	ORPHA:257
L-Ferritin Deficiency	Alopecia	OMIM:615604
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Melanocytic nevus, Alopecia uni...	ORPHA:1008
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Abnormality of the nail, Sparse scalp hair, Reduced terminal:vellus ratio, Sparse hair, Pili torti	OMIM:601553
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal hair morphology, Dry skin, Hypohidrosis, Abnormal fingernail morphology, Abnormal toenai...	ORPHA:248
Tooth Agenesis, Selective, 8	Sparse eyebrow, Dry skin, Sparse hair	OMIM:617073
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Absent pubic hair, Small nail, Spar...	ORPHA:189
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Nail dystrophy, Abnormal hair morphology, Abnormality of the nail, Onychogryposis of toenails, Sp...	ORPHA:1808
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Atrophic scars, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Sp...	ORPHA:79133
Woolly Hair, Autosomal Recessive 3	Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair	OMIM:616760
Kerion Celsi	Alopecia	ORPHA:499
Hypotrichosis 7	Brittle hair, Abnormal sweat gland morphology, Abnormality of the nail, Comedo, Sparse scalp hair...	OMIM:604379
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Nail dysplasia, Nail dystrophy, Hypermelanotic macule, Milia, Alopecia, Spotty hypopigmentation, ...	ORPHA:79397
Quinquaud Folliculitis Decalvans	Patchy alopecia, Abnormal hair morphology, Erythema, Scarring alopecia of scalp	ORPHA:346
Ectodermal Dysplasia, Trichoodontoonychial Type	Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Sparse body hair, Abnormal toenai...	ORPHA:1818
Pseudopelade Of Brocq	Abnormal hair morphology, Abnormality of the nail, Sparse scalp hair, Papule, Aplasia/Hypoplasia ...	ORPHA:129
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Slow-growing hair, Dry skin, Sparse eyelashes, Hypohidrosis, Sparse eyebrow, Sparse ...	OMIM:129490
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Nail pits, Nail dystrophy, Ridged nail, Alopecia	OMIM:601705
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Aredyld	Generalized hypotrichosis	OMIM:207780
Hypotrichosis 9	Abnormality of the nail, Abnormal eyelash morphology, Sparse scalp hair, Hypohidrosis, Sparse eye...	OMIM:614237
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Nail dystrophy, Alopecia	OMIM:616487
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Hypohidrosis, Sparse eyebrow, Mela...	ORPHA:1882
Dowling-Degos Disease	Hypermelanotic macule, Palmar pits, Erythematous papule, Hypopigmented macule, Abnormal fingernai...	ORPHA:79145
Monilethrix	Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia	OMIM:158000
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Trichodysplasia, Alopecia of scalp	ORPHA:79129
Marie Unna Hereditary Hypotrichosis	Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al...	ORPHA:444
Dermoodontodysplasia	Toenail dysplasia, Dry skin, Sparse scalp hair, Hypohidrosis, Thin skin, Sparse body hair, Finger...	ORPHA:1660
Pili Torti	Brittle hair, Abnormality of the nail, Abnormality of hair texture, Abnormal eyebrow morphology, ...	ORPHA:2889
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Hypopigmented skin patches, Onychogryposis of fingernail, Ridged fingernail, Sparse hair, Fingern...	ORPHA:2251
Angioma Serpiginosum, X-Linked	Nail dystrophy, Fine hair, Sparse hair	OMIM:300652
Crandall Syndrome	Brittle hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili torti, Alopecia	ORPHA:202
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Hypotrichosis 6	Erythema, Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Pili Torti-Onychodysplasia Syndrome	Nail dystrophy, Brittle hair, Absent eyelashes, Dry skin, Absent eyebrow, Sparse body hair, Conge...	ORPHA:2890
Bazex-Dupré-Christol Syndrome	Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Milia, Sparse scalp hair, Sparse e...	ORPHA:113
Intermediate Generalized Junctional Epidermolysis Bullosa	Nail dystrophy, Milia, Scarring alopecia of scalp, Atrophic scars, Sparse body hair, Anonychia, A...	ORPHA:79402
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Subcutaneous nodule, Alo...	ORPHA:1366
Hypotrichosis 5	Absent pubic hair, Abnormal sweat gland morphology, Abnormality of the nail, Sparse eyelashes, Th...	OMIM:612841
Ectodermal Dysplasia 4, Hair/Nail Type	Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ...	OMIM:602032
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dysplasia, Nail dystrophy, Facial erythema, Dry skin, Alopecia totalis	OMIM:212360
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant	Palmar pits, Comedo, Sparse scalp hair, Papule, Hypohidrosis	OMIM:605827
Monilethrix	Brittle hair, Slow-growing hair, Abnormality of the nail, Abnormal eyelash morphology, Patchy alo...	ORPHA:573
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Woolly hair, Sparse hair	OMIM:278200
Ectodermal Dysplasia/Skin Fragility Syndrome	Scaling skin, Alopecia of scalp, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Absent...	OMIM:604536
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thick eyebrow, Sparse hair, Widow's peak	OMIM:606242
Palmoplantar Keratoderma And Congenital Alopecia 1	Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Palmoplantar erythema, Sparse hair, Al...	OMIM:104100
Erythrokeratodermia Variabilis	Hypermelanotic macule, Abnormal hair morphology, Abnormality of the nail, Dry skin, Macule, Gener...	ORPHA:317
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Slow-growing hair, Sparse scalp hair, Dry skin, Sparse eyelashes, Hypohidrosis, Sparse body hair,...	OMIM:618535
Ectodermal Dysplasia 7, Hair/Nail Type	Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse...	OMIM:614929
Moynahan Syndrome	Sparse hair, Alopecia	ORPHA:2574
Hypotrichosis 8	Coarse hair, Ridged nail, Comedo, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse eyebro...	OMIM:278150
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Dystrophic fingernails, Skin ulcer, Abnormal hair morphology, Papule, Skin vesicle, Paronychia	ORPHA:2314
Oliver-Mcfarlane Syndrome	Alopecia, Long eyebrows, Sparse hair, Long eyelashes	OMIM:275400
Schopf-Schulz-Passarge Syndrome	Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Dry skin, Poroma, Apocrine hidro...	OMIM:224750
Ectodermal Dysplasia 9, Hair/Nail Type	Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology...	OMIM:614931
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair	OMIM:234030
Pseudoprogeria Syndrome	Absent eyelashes, Absent eyebrow, Thin skin, Sparse eyebrow, Sparse hair, Alopecia	ORPHA:2985
Rothmund-Thomson Syndrome, Type 1	Nail dystrophy, Thin nail, Absent eyelashes, Absent eyebrow, Cafe-au-lait spot, Sparse hair	OMIM:618625
Pruritic Urticarial Papules And Plaques Of Pregnancy	Facial erythema, Erythematous papule, Palmoplantar erythema, Skin vesicle, Erythematous plaque, U...	ORPHA:64745
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Toenail dysplasia, Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Finge...	ORPHA:2325
Witkop Syndrome	Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ...	OMIM:189500
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Hypohidrosis, Thin skin, Sparse body hair, Abnormal fingernail morphology, Sparse hair	ORPHA:1810
Ectodermal Dysplasia-Syndactyly Syndrome 1	Coarse hair, Small nail, Patchy alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenai...	OMIM:613573
Porphyria Cutanea Tarda	Onycholysis, Facial hypertrichosis, Alopecia	OMIM:176100
Lichen Planopilaris	Hypopigmented skin patches, Skin ulcer, Papule, Onycholysis, Abnormal fingernail morphology, Derm...	ORPHA:525
Proliferating Trichilemmal Cyst	Epidermoid cyst, Sparse scalp hair, Skin ulcer	ORPHA:492
Hidrotic Ectodermal Dysplasia, Halal Type	Nail dysplasia, Absent eyelashes, Sparse scalp hair, Multiple cafe-au-lait spots, Absent eyebrow,...	ORPHA:1809
Flynn-Aird Syndrome	Alopecia of scalp, Dermal atrophy, Alopecia	OMIM:136300
Palmoplantar Keratoderma And Woolly Hair	Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow	OMIM:616099
Trichothiodystrophy 9, Nonphotosensitive	Nail dystrophy, Sparse eyebrow, Tiger tail banding, Sparse hair	OMIM:619692
Classic Mycosis Fungoides	Hypopigmented skin patches, Skin ulcer, Abnormality of the nail, Dry skin, Skin plaque, Erythema,...	ORPHA:2584
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Cortisone Reductase Deficiency 1	Hirsutism, Alopecia	OMIM:604931
Porphyria Variegata	Localized skin lesion, Milia, Skin vesicle, Skin erosion, Hypertrichosis	ORPHA:79473
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr...	OMIM:262000
Lipoid Proteinosis Of Urbach And Wiethe	Skin plaque, Skin erosion, Patchy alopecia, Papule	OMIM:247100
Bazex-Dupre-Christol Syndrome	Trichorrhexis nodosa, Milia, Trichoepithelioma, Hypohidrosis, Sparse hair, Nevus, Pili torti, Coa...	OMIM:301845
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Fibrodysplasia Ossificans Progressiva	Subcutaneous nodule, Alopecia	ORPHA:337
Localized Junctional Epidermolysis Bullosa	Dystrophic fingernails, Nail dystrophy, Milia, Scarring alopecia of scalp, Dystrophic toenail, At...	ORPHA:251393
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Scaling skin, Alopecia of scalp, Absent pubic hair, Dry skin, Cutis laxa, Sparse eyebrow, Absent ...	ORPHA:2269
Dyskeratosis Congenita	Premature graying of hair, Hypopigmented skin patches, Nail dystrophy, Hypermelanotic macule, Ski...	ORPHA:1775
Clouston Syndrome	Nail dysplasia, Nail dystrophy, Absent pubic hair, Brittle hair, Slow-growing hair, Small nail, S...	OMIM:129500
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Fine hair, Sparse hair	ORPHA:1174
Lichen Planus Pemphigoides	Abnormality of the nail, Skin vesicle	ORPHA:254478
Trichodental Dysplasia	Slow-growing hair, Fine hair, Sparse hair, Brittle hair	OMIM:601453
Focal Facial Dermal Dysplasia Type Iii	Hypopigmented skin patches, Highly arched eyebrow, Redundant skin, Aplasia/Hypoplasia of the skin...	ORPHA:1807
Focal Facial Dermal Dysplasia 3, Setleis Type	Low anterior hairline, Absent lower eyelashes, Distichiasis, Sparse hair	OMIM:227260
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Long eyelashes, Sparse hair, Alopecia	ORPHA:3363
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Erythema Elevatum Diutinum	Skin nodule, Skin vesicle	ORPHA:90000
Keratoderma Hereditarium Mutilans	Abnormality of the nail, Abnormal toenail morphology, Papule, Alopecia	ORPHA:494
Choroidal Atrophy-Alopecia Syndrome	Sparse or absent eyelashes, Abnormal fingernail morphology, Abnormal toenail morphology, Bifid na...	ORPHA:1433
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Nail dysplasia, Sparse eyelashes, Hypohidrosis, Sparse eyebrow, Alopecia	OMIM:615704
Alopecia Totalis	Alopecia of scalp, Onycholysis, Fragile nails, Nail pits, Trachyonychia, Alopecia totalis	ORPHA:700
Ichthyosis, Congenital, Autosomal Recessive 11	Curly eyelashes, Brittle hair, Abnormality of the nail, Curly hair, Sparse eyelashes, Hypohidrosi...	OMIM:602400
Hypotrichosis 13	Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology	OMIM:615896
Hypotrichosis 12	Sparse or absent eyelashes, Abnormal sweat gland morphology, Slow-growing hair, Abnormality of th...	OMIM:615885
Schöpf-Schulz-Passarge Syndrome	Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Pemphigoid Gestationis	Skin vesicle	ORPHA:63275
Alopecia-Intellectual Disability Syndrome	Alopecia, Sparse body hair, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Pemphigus Foliaceus	Scaling skin, Serpiginous cutaneous lesion, Skin vesicle, Annular cutaneous lesion, Erythematous ...	ORPHA:79481
Epidermolysis Bullosa, Junctional 5A, Intermediate	Alopecia of scalp, Nail dystrophy, Absent pubic hair, Onycholysis of distal fingernails, Absent a...	OMIM:619816
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Hawkinsinuria	Fine hair, Sparse hair	ORPHA:2118
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Scaling skin, Alopecia of scalp, Nail dystrophy, Hypermelanotic macule, Hypomelanotic macule, Dry...	OMIM:618373
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Preauricular pit, Sacral dimple, Sparse hair	OMIM:273390
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Alopecia	ORPHA:1067
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Nail dysplasia, Nail dystrophy, Facial erythema, Scarring alopecia of scalp, Sparse eyelashes, Sp...	OMIM:612843
Sabinas Brittle Hair Syndrome	Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair	OMIM:211390
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Absent hair, Brittle hair, Dry skin, Absent nipple, Hypohidrosis, Anhidrosis, Sparse hair	OMIM:614940
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Abnormality of the nail, Absent eyelashes, Sparse scalp hair, Ab...	OMIM:607823
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Skin ulcer, Skin fissure, Anhidrosis, Abnormal fingernail morphology, Sparse hair, Palmoplantar h...	ORPHA:659
Epidermolysis Bullosa, Junctional 1A, Intermediate	Nail dystrophy, Palmar hyperhidrosis, Patchy alopecia, Fragile nails	OMIM:226650
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypohidrosis, Sparse body hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:181
Pyoderma Gangrenosum	Skin vesicle, Atrophic scars, Skin ulcer, Papule	ORPHA:48104
Bathing Suit Ichthyosis	Scaling skin, Nail dystrophy, Hypohidrosis, Sparse hair, Alopecia	ORPHA:100976
Wells Syndrome	Skin vesicle	ORPHA:901
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Dermal atrophy, Alopecia	ORPHA:69735
Ectodermal Dysplasia-Syndactyly Syndrome 2	Hyperhidrosis, Sparse hair	OMIM:613576
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Skin vesicle, Erythema migrans	ORPHA:158681
Progeroid Syndrome, Petty Type	Brittle hair, Abnormal hair morphology, Abnormality of the nail, Redundant skin, Cutis laxa, Shag...	ORPHA:2963
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse body hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1006
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Rhizomelic Chondrodysplasia Punctata	Sparse body hair, Dry skin, Alopecia	ORPHA:177
Glycosylphosphatidylinositol Biosynthesis Defect 25	Coarse hair, Sparse hair	OMIM:619985
Dermatitis Herpetiformis	Skin vesicle, Macule, Erythema	ORPHA:1656
Familial Benign Chronic Pemphigus	Skin vesicle, Skin erosion, Erythema	ORPHA:2841
Adult Syndrome	Breast hypoplasia, Skin ulcer, Toenail dysplasia, Abnormality of the nail, Hypoplastic nipples, S...	ORPHA:978
Pachyonychia Congenita	Nail dystrophy, Paronychia, Cutaneous cyst, Onychogryposis of toenails, Onychogryposis of fingern...	ORPHA:2309
Cardiofaciocutaneous Syndrome 2	Fine hair, Absent eyebrow, Sparse hair, Curly hair	OMIM:615278
Xq27.3Q28 Duplication Syndrome	Sparse body hair	ORPHA:261483
Non-Acquired Isolated Growth Hormone Deficiency	Premature skin wrinkling, Sparse hair	ORPHA:631
Hypomelanosis Of Ito	Macular hypopigmented whorls, streaks, and patches, Alopecia	OMIM:300337
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Periorbital wrinkles, Absent eyelashes, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Ab...	OMIM:614941
Nicolaides-Baraitser Syndrome	Excessive wrinkled skin, Curly eyelashes, Highly arched eyebrow, Long eyelashes, Abnormal hair pa...	ORPHA:3051
Hypotrichosis 14	Sparse body hair, Short eyelashes, Sparse pubic hair, Sparse hair, Absent axillary hair	OMIM:618275
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia	OMIM:203550
Ichthyosis, Congenital, Autosomal Recessive 2	Thin nail, Abnormal hair morphology, Small nail, Hypohidrosis, Anhidrosis, Erythema, Alopecia	OMIM:242100
Centrifugal Lipodystrophy	Scaling skin, Erythema, Alopecia	ORPHA:90156
Hereditary Bullous Dystrophy, Macular Type	Nail dystrophy, Alopecia, Atrichia, Congenital abnormal hair pattern, Spotty hypopigmentation	ORPHA:1867
Immunodeficiency, Common Variable, 12, With Autoimmunity	Pyoderma gangrenosum, Alopecia	OMIM:616576
Blepharocheilodontic Syndrome 1	Nail dysplasia, High anterior hairline, Small nail, Aplasia cutis congenita over the scalp vertex...	OMIM:119580
Epidermolysis Bullosa, Lethal Acantholytic	Absent fingernail, Anonychia, Alopecia totalis, Alopecia universalis, Skin erosion, Aplasia cutis...	OMIM:609638
Oculocerebrocutaneous Syndrome	Focal dermal aplasia/hypoplasia, Alopecia	OMIM:164180
Idiopathic Trachyonychia	Nail dystrophy, Toenail dysplasia, Thin nail, Ridged nail, Abnormality of the periungual region, ...	ORPHA:79153
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Trichothiodystrophy 8, Nonphotosensitive	Trichorrhexis nodosa, Woolly hair, Cutis laxa, Sparse eyebrow, Sparse hair	OMIM:619691
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Preauricular pit, Hyperpigmented papule, Alopecia	ORPHA:88630
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Gand Syndrome	Sparse hair	OMIM:615074
Iga Pemphigus	Skin vesicle, Annular cutaneous lesion, Skin erosion, Skin plaque	ORPHA:555905
Congenital Ichthyosiform Erythroderma	Hypohidrosis, Abnormality of the nail, Alopecia	ORPHA:79394
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Thin skin, Skin dimple, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Melanocytic nevus, Alopecia	OMIM:612079
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Scarring alopecia of scalp, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow	ORPHA:59303
Ichthyosis, Congenital, Autosomal Recessive 1	Nail dysplasia, Nail dystrophy, Sparse hair, Alopecia	OMIM:242300
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Low posterior hairline	ORPHA:2183
Cronkhite-Canada Syndrome	Hypoplastic toenails, Dystrophic fingernails, Dystrophic toenail, Patchy alopecia, Sparse body ha...	ORPHA:2930
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Eem Syndrome	Sparse body hair, Sparse scalp hair, Absent eyebrow	ORPHA:1897
Autoimmune Polyendocrinopathy Type 2	Hypopigmented skin patches, Alopecia	ORPHA:3143
Hennekam-Beemer Syndrome	Papule, Macule, Subcutaneous nodule, Skin vesicle, Erythema	ORPHA:2135
Menkes Disease	Cutis laxa, Alopecia, Sparse hair, Brittle hair	OMIM:309400
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Nail dystrophy, Yellow nails, Ridged nail, Sparse lateral eyebrow, Onycholysis, Alopecia	OMIM:614564
Alopecia-Intellectual Disability Syndrome 4	Alopecia	OMIM:618840
Alopecia Universalis	Abnormality of the nail, Absent eyelashes, Patchy alopecia, Absent eyebrow, Alopecia universalis	ORPHA:701
Flynn-Aird Syndrome	Skin ulcer, Dermal atrophy, Alopecia	ORPHA:2047
Acrofacial Dysostosis, Palagonia Type	Aplasia/Hypoplasia of the skin, Sparse eyelashes, Sparse lateral eyebrow, Dermal atrophy, Low ant...	ORPHA:1787
Johnson Neuroectodermal Syndrome	Absent eyelashes, Multiple cafe-au-lait spots, Absent eyebrow, Hypohidrosis, Sparse hair, Alopecia	ORPHA:2316
Hereditary Mucoepithelial Dysplasia	Fine hair, Sparse hair, Alopecia	ORPHA:1839
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Periorbital wrinkles, Sparse eyelashes, Hypohidrosis, Sparse eyebrow, Anhidrosis, Sparse hair	OMIM:224900
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Hirsutism, Long eyelashes, Thick eyebrow, Low anterior hairline, Sparse hair	OMIM:616819
Fg Syndrome 3	Frontal upsweep of hair, Fine hair, Sparse hair	OMIM:300406
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Scaling skin, Absent hair, Nail dystrophy, Trichorrhexis nodosa, Skin fissure, Facial erythema, R...	ORPHA:1010
Keratoderma Hereditarium Mutilans With Ichthyosis	Scaling skin on fingertip, Nail dystrophy, Onychogryposis, Alopecia	ORPHA:79395
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Cardiofaciocutaneous Syndrome 4	Alopecia of scalp, Multiple lentigines, Absent eyebrow, Sparse eyelashes, Curly hair, Cafe-au-lai...	OMIM:615280
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Palmoplantar scaling skin, Nail dystrophy, Woolly hair, Sparse eyelashes, Sparse eyebrow, Palmopl...	OMIM:605676
Ifap Syndrome 2	Perioral erythema, Nail dystrophy, Atrichia, Sparse hair	OMIM:619016
Lelis Syndrome	Nail dystrophy, Yellow nails, Sparse lateral eyebrow, Hypohidrosis, Abnormal toenail morphology, ...	ORPHA:140936
Sweet Syndrome	Panniculitis, Erythematous papule, Skin nodule, Skin vesicle, Erythematous plaque, Pyoderma gangr...	ORPHA:3243
Odontoonychodermal Dysplasia	Nail dysplasia, Dystrophic fingernails, Erythema, Ridged nail, Thin nail, Dystrophic toenail, Spa...	OMIM:257980
Systemic Lupus Erythematosus 17	Alopecia	OMIM:301080
Lessel-Kubisch Syndrome	Premature graying of hair, Sparse pubic hair	OMIM:618681
Olmsted Syndrome 1	Nail dysplasia, Nail dystrophy, Hyperhidrosis, Sparse hair, Subungual hyperkeratosis, Alopecia un...	OMIM:614594
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Coarse hair, Sparse hair, Brittle hair	ORPHA:1883
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Sparse pubic hair, Sparse axillary hair	OMIM:146110
Leukocyte Adhesion Deficiency Type Ii	Skin vesicle, Low anterior hairline, Broad eyebrow, Long eyelashes	ORPHA:99843
Trichothiodystrophy 4, Nonphotosensitive	Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Brittle hair, Small nail, Abnormality of ha...	OMIM:234050
Lamellar Ichthyosis	Abnormality of the nail, Dry skin, Lack of skin elasticity, Sparse hair, Aplasia/Hypoplasia of th...	ORPHA:313
Even-Plus Syndrome	Highly arched eyebrow, Aplasia cutis congenita, Sparse hair, Synophrys	OMIM:616854
Rapp-Hodgkin Syndrome	Nail dystrophy, Pili canaliculi, Decreased number of sweat glands, Small nail, Slow-growing hair,...	OMIM:129400
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse eyebrow, Sparse hair	OMIM:619989
Trichotillomania	Alopecia	OMIM:613229
Filippi Syndrome	Frontal hirsutism, Hypertrichosis, Sparse hair	OMIM:272440
Adams-Oliver Syndrome 2	Small nail, Low anterior hairline, Aplasia cutis congenita, Alopecia	OMIM:614219
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia	OMIM:215100
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Satoyoshi Syndrome	Alopecia universalis, Alopecia	OMIM:600705
Trichohepatoenteric Syndrome 2	Trichorrhexis nodosa, Brittle hair, Uncombable hair, Woolly hair, Sparse hair	OMIM:614602
Dyskeratosis Congenita, Autosomal Recessive 6	Nail dystrophy, Sparse hair, Alopecia	OMIM:616353
Hypotrichosis Simplex Of The Scalp	Slow-growing scalp hair, Scaling skin, Alopecia of scalp, Sparse scalp hair, Fine hair	ORPHA:90368
Mandibulofacial Dysostosis With Alopecia	Sparse eyelashes, Preauricular pit, Preauricular skin tag, Alopecia	OMIM:616367
Keutel Syndrome	Dermal atrophy, Alopecia	ORPHA:85202
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Nail dystrophy, Dystrophic fingernails, Highly arched eyebrow, Dystrophic toenail, Synophrys, Spa...	ORPHA:3253
Anauxetic Dysplasia 2	Nail dysplasia, Sparse hair, Small nail	OMIM:617396
Tooth Agenesis, Selective, 4	Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Dry skin, Hypohidrosis, Thin skin,...	OMIM:150400
Sézary Syndrome	Nail dystrophy, Dry skin, Alopecia	ORPHA:3162
Noonan Syndrome 6	Multiple lentigines, Long eyebrows, Low posterior hairline, Curly hair, Cafe-au-lait spot, Sparse...	OMIM:613224
Olmsted Syndrome 2	Alopecia universalis, Woolly hair, Sparse hair	OMIM:619208
Chronic Graft Versus Host Disease	Nail dystrophy, Skin ulcer, Intermittent generalized erythematous papular rash, Onycholysis, Skin...	ORPHA:99921
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Thick hair, Dry skin, Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia	OMIM:607626
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Nail dystrophy, Coarse hair, Brittle hair	ORPHA:75389
Olmsted Syndrome, X-Linked	Alopecia totalis, Subungual hyperkeratosis	OMIM:300918
Acute Generalized Exanthematous Pustulosis	Scaling skin, Skin vesicle, Purpura	ORPHA:293173
Renpenning Syndrome	Abnormal hairshaft morphology, Thin eyebrow, Alopecia	ORPHA:3242
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Tiger tail banding, Sparse eyebrow, Sparse hair, Reduced hair su...	OMIM:300953
Autoimmune Polyendocrinopathy Type 1	Hypopigmented skin patches, Abnormal fingernail morphology, Alopecia	ORPHA:3453
Acrodermatitis Enteropathica	Skin ulcer, Ridged nail, Abnormality of the nail, Dry skin, Abnormal eyebrow morphology, Ridged f...	ORPHA:37
Ectodermal Dysplasia-Blindness Syndrome	Skin ulcer, Hypohidrosis, Abnormal fingernail morphology, Sparse hair, Fine hair	ORPHA:1806
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Dry skin, Sparse hair	OMIM:268020
Bleeding Disorder, Platelet-Type, 21	Alopecia	OMIM:617443
19Q13.11 Microdeletion Syndrome	Nail dysplasia, Sparse or absent eyelashes, Dry skin, Sparse lateral eyebrow, Thin skin, Sparse h...	ORPHA:217346
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Nail dysplasia, Nail dystrophy, Milia, Atrophic scars, Alopecia	OMIM:226600
Androgen Insensitivity Syndrome	Absent facial hair, Sparse pubic hair, Sparse axillary hair	OMIM:300068
Abnormal Hair, Joint Laxity, And Developmental Delay	Trichorrhexis nodosa, Small nail, Sparse lateral eyebrow, Fragile nails, Pili torti, Alopecia	OMIM:261990
Oculocerebrocutaneous Syndrome	Hypopigmented skin patches, Skin tags, Aplasia/Hypoplasia of the skin, Preauricular skin tag, Abn...	ORPHA:1647
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Autoimmune Lymphoproliferative Syndrome, Type Iii	Erythematous macule, Alopecia	OMIM:615559
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Hypoplastic nipples, Sparse hair, Small nail	OMIM:273400
Incontinentia Pigmenti	Nail dysplasia, Breast hypoplasia, Nail dystrophy, Erythema, Ridged nail, Breast aplasia, Onychog...	OMIM:308300
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair, Short eyelashes, Sparse axillary hair	OMIM:608615
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Dermal translucency, Alopecia	OMIM:137940
Cranioectodermal Dysplasia	Abnormal fingernail morphology, Abnormal toenail morphology, Sparse hair	ORPHA:1515
Chanarin-Dorfman Syndrome	Alopecia	OMIM:275630
Intellectual Developmental Disorder, Autosomal Recessive 5	Thick eyebrow, Sparse hair, Synophrys	OMIM:611091
Kury-Isidor Syndrome	Sacral dimple, Hypertrichosis, Alopecia	OMIM:619762
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Brittle hair, Periorbital wrinkles, Absent eyelashes, Hypoplastic nipples, Absent nipple, Dry ski...	OMIM:305100
Desbuquois Syndrome	Abnormal eyelash morphology, Sparse hair	ORPHA:1425
Herpes Simplex Virus Stromal Keratitis	Herpetiform vesicles	ORPHA:137599
Rodrigues Blindness	Fine hair, Sparse hair	OMIM:268320
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Dry skin, Alopecia	OMIM:618282
Tetrasomy 12P	Hypohidrosis, Sparse eyebrow, Sparse hair	ORPHA:884
Congenital Disorder Of Glycosylation, Type Im	Sparse eyelashes, Sparse eyebrow, Dry skin, Alopecia	OMIM:610768
2Q32Q33 Microdeletion Syndrome	Fine hair, Sparse hair	ORPHA:251019
Auriculocondylar Syndrome 2B	Preauricular skin tag, Sparse hair, Synophrys	OMIM:620458
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hirsutism, Alopecia	OMIM:615830
Trichothiodystrophy 1, Photosensitive	Trichorrhexis nodosa, Nail dystrophy, Brittle hair, Small nail, Tiger tail banding, Trichoschisis...	OMIM:601675
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse facial hair, Sparse axillary hair	OMIM:608154
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Patchy alopecia, Multiple cafe-au-lait spots	ORPHA:85279
Cardiocranial Syndrome, Pfeiffer Type	Abnormal hair whorl, Sparse hair	ORPHA:2872
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Fragile nails, Sparse hair, Alopecia	OMIM:242150
X-Linked Agammaglobulinemia	Hypopigmented skin patches, Skin ulcer, Alopecia	ORPHA:47
Omenn Syndrome	Alopecia, Dry skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:39041
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Alopecia	OMIM:620651
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Mandibuloacral Dysplasia With Type A Lipodystrophy	Breast aplasia, Absent eyelashes, Thin skin, Abnormal eyebrow morphology, Lack of skin elasticity...	ORPHA:90153
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Supernumerary nipple, Alopecia	ORPHA:3224
Schimmelpenning-Feuerstein-Mims Syndrome	Nevus sebaceous, Nevus, Linear nevus sebaceous, Alopecia	OMIM:163200
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Small nail, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse eyelashes,...	ORPHA:544488
Mandibuloacral Dysplasia With Type B Lipodystrophy	Nail dystrophy, Abnormal hair morphology, Thin skin, Dermal atrophy, Alopecia	ORPHA:90154
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hypohidrosis, Abnormal toenail morphology, Sparse hair, Alopecia	ORPHA:1005
Adams-Oliver Syndrome	Hypoplastic fingernail, Aplastic/hypoplastic toenail, Aplasia/Hypoplasia of the skin, Absent fing...	ORPHA:974
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair	OMIM:300869
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Hirsutism, Sparse hair	OMIM:618087
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Fine hair, Alopecia	ORPHA:228390
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Nail dysplasia, Brittle hair, Progressive hypotrichosis, Sparse eyelashes, Sparse eyebrow, Hyperh...	OMIM:225060
Dyskeratosis Congenita, Autosomal Dominant 1	Premature graying of hair, Nail dystrophy, Ridged nail, Nail pits, Sparse hair, Dermal atrophy, A...	OMIM:127550
Monosomy 18P	Low posterior hairline, Alopecia	ORPHA:1598
Intellectual Developmental Disorder, Autosomal Dominant 65	Thin eyebrow, Synophrys, Low posterior hairline, Sparse hair	OMIM:619320
Holocarboxylase Synthetase Deficiency	Alopecia	ORPHA:79242
Mandibuloacral Dysplasia	Thin skin, Hypoplastic fingernail, Sparse hair, Alopecia	ORPHA:2457
Papillon-Lefèvre Syndrome	Hypopigmented skin patches, Nail dystrophy, Abnormality of the nail, Cigarette-paper scars, Spars...	ORPHA:678
Bresek Syndrome	Alopecia	ORPHA:85284
Ectodermal Dysplasia And Immunodeficiency 2	Dry skin, Sparse scalp hair, Hypohidrosis, Anhidrosis, Sparse hair, Aplasia of the sweat glands	OMIM:612132
Cerebrooculofacioskeletal Syndrome 2	Sparse hair	OMIM:610756
Satoyoshi Syndrome	Alopecia universalis, Sparse or absent eyelashes, Abnormal hair morphology	ORPHA:3130
Cutis Laxa, Autosomal Recessive, Type Iiib	Excessive wrinkled skin, Cutis laxa, Thin skin, Sparse hair, Fine hair, Dermal translucency	OMIM:614438
Short Syndrome	Excessive wrinkled skin, Sparse hair, Alopecia	ORPHA:3163
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Small nail, Absent eyelashes, Absent eyebrow, Cafe-au-lait spot, Alopecia	ORPHA:166035
Garg-Mishra Progeroid Syndrome	Cafe-au-lait spot, Sparse hair, Small nail	OMIM:620601
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Dermal atrophy, Sparse hair, Brittle hair	OMIM:608612
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair	OMIM:620001
Macs Syndrome	Redundant skin, Cutis laxa, Sparse eyebrow, Sparse hair, Alopecia	OMIM:613075
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Synophrys, Sparse eyebrow, Sparse hair, Curly hair	OMIM:620075
Xp22.13P22.2 Duplication Syndrome	High anterior hairline, Sparse hair	ORPHA:284180
Ane Syndrome	Hyperpigmented nevi, Alopecia	ORPHA:157954
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Mucoepithelial Dysplasia, Hereditary	Nail dysplasia, Nail dystrophy, Chronic monilial nail infection, Sparse hair, Coarse hair, Alopecia	OMIM:158310
Gomez-Lopez-Hernandez Syndrome	Alopecia	OMIM:601853
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypohidrosis, Nail dystrophy, Sparse hair	ORPHA:98813
Fanconi Anemia, Complementation Group S	Low anterior hairline, Sparse hair, Long eyelashes	OMIM:617883
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Fine hair, Sparse hair	OMIM:616817
Bartsocas-Papas Syndrome	Alopecia totalis, Hypoplastic toenails, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Incontinentia Pigmenti	Hypopigmented skin patches, Skin ulcer, Hypoplastic fingernail, Abnormal hair morphology, Abnorma...	ORPHA:464
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Frontonasal Dysplasia 2	Nevus, Sparse eyelashes, Hypohidrosis, Sparse eyebrow, Sparse hair, Alopecia totalis, Fine hair	OMIM:613451
Gapo Syndrome	Hypopigmented skin patches, Skin tags, Sparse eyelashes, Sparse eyebrow, Early balding, Alopecia	ORPHA:2067
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Psoriasiform lesion, Alopecia	ORPHA:169154
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Nail dysplasia, Nail dystrophy, Alopecia	OMIM:175500
Leprosy	Verrucous papule, Loss of eyelashes, Acral ulceration, Hypopigmented macule, Penetrating foot ulc...	ORPHA:548
Trichorhinophalangeal Syndrome, Type Iii	Sparse lateral eyebrow, Fine hair, Sparse hair	OMIM:190351
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Patchy alopecia, Sparse hair	OMIM:617763
Cutis Laxa, Autosomal Recessive, Type Iiia	Cutis laxa, Thin skin, Sparse hair	OMIM:219150
Adult Syndrome	Breast hypoplasia, Alopecia of scalp, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Dry ...	OMIM:103285
Braddock-Carey Syndrome 1	Sparse hair, Curly hair	OMIM:619980
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Sparse body hair	ORPHA:2234
X-Linked Dominant Chondrodysplasia Punctata	Scaling skin, Scarring alopecia of scalp, Abnormality of the nail, Patchy alopecia, Sparse eyelas...	ORPHA:35173
Hemochromatosis, Type 1	Alopecia	OMIM:235200
Trichorhinophalangeal Syndrome Type 1	Leukonychia, Sparse eyelashes, Sparse eyebrow, Fragile nails, Sparse hair	ORPHA:77258
Chikungunya	Petechiae, Macule, Skin vesicle, Erythema	ORPHA:324625
Adrenoleukodystrophy	Alopecia	OMIM:300100
Chromosome 19Q13.11 Deletion Syndrome, Distal	Nail dysplasia, Dry skin, Sparse eyelashes, Aplasia cutis congenita of scalp, Sparse eyebrow, Spa...	OMIM:613026
Oligoarticular Juvenile Idiopathic Arthritis	Knee osteoarthritis, Arthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Antinucl...	ORPHA:85410
Polyendocrine-Polyneuropathy Syndrome	Alopecia	ORPHA:453533
Distal Deletion 19P	Thick eyebrow, Keloids, Alopecia	ORPHA:96129
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair	OMIM:617988
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Fine hair, Low anterior hairline, Sparse hair, Synophrys	ORPHA:391408
Noonan Syndrome 14	Dry skin, Low posterior hairline, Curly hair, Sparse eyebrow, Hyperhidrosis, Sparse hair	OMIM:619745
Onychotrichodysplasia And Neutropenia	Trichorrhexis nodosa, Hypoplastic fingernail, Curly eyelashes, Curly hair, Short eyelashes, Spars...	OMIM:258360
Hawkinsinuria	Sparse hair	OMIM:140350
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Nail dystrophy, Milia, Onychogryposis, Atrophic scars, Aplasia cutis congenita on trunk or limbs,...	ORPHA:79396
Dyskeratosis Congenita, Autosomal Dominant 3	Premature graying of hair, Nail dysplasia, Nail dystrophy, Dry skin, Fine hair, Alopecia	OMIM:613990
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Hyperconvex nail	OMIM:619721
Gapo Syndrome	Nail dysplasia, Breast hypoplasia, Redundant skin, Hypoplastic nipples, Sparse eyelashes, Sparse ...	OMIM:230740
Joubert Syndrome 37	Sparse hair	OMIM:619185
Immunodeficiency, Common Variable, 10	Alopecia totalis, Trachyonychia	OMIM:615577
Retinitis Pigmentosa With Or Without Skeletal Anomalies	High anterior hairline, Small nail, Sparse eyelashes, Cafe-au-lait spot, Sparse eyebrow, Sparse hair	OMIM:250410
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Excessive wrinkled skin, Thick hair, Redundant skin, Cutis laxa, Sparse hair...	ORPHA:357074
Scarf Syndrome	Cutis laxa, Hypoplastic nipples, Low posterior hairline, Sparse hair	ORPHA:3134
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair	OMIM:618253
Cranioectodermal Dysplasia 3	Dry skin, Broad nail, Cutis laxa, Short nail, Sparse hair, Fine hair	OMIM:614099
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair	OMIM:614105
Sting-Associated Vasculopathy, Infantile-Onset	Nail dystrophy, Periungual erythema, Nailfold capillary tortuosity, Sparse hair, Erythema	OMIM:615934
Cardiofaciocutaneous Syndrome	Dystrophic fingernails, Multiple lentigines, Excessive wrinkled skin, Sparse or absent eyelashes,...	ORPHA:1340
Subcorneal Pustular Dermatosis	Increased circulating antibody level, Rheumatoid arthritis, Pustule, Systemic lupus erythematosus...	ORPHA:48377
Chromosome 5P13 Duplication Syndrome	Low posterior hairline, Sparse hair	OMIM:613174
Borjeson-Forssman-Lehmann Syndrome	Thick eyebrow, Sparse hair	ORPHA:127
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Recurrent aphthous stomatitis, Skin rash, Hashimoto thyroiditis, Decrea...	ORPHA:275
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Nail dystrophy, Absent eyelashes, Sparse scalp hair, Absent eyebrow, S...	OMIM:268400
Ruijs-Aalfs Syndrome	Premature graying of hair, Sparse hair	OMIM:616200
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia	ORPHA:412057
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Dystrophic fingernails, Hyperconvex fingernails, Dystrophic toenail, Sparse eyelashes, Hypohidros...	ORPHA:1071
Encephalocraniocutaneous Lipomatosis	Nevus psiloliparus, Alopecia	OMIM:613001
Lethal Acantholytic Erosive Disorder	Absent hair, Absent eyelashes, Absent fingernail, Absent eyebrow, Absent toenail, Congenital alop...	ORPHA:158687
Limb-Mammary Syndrome	Nail dysplasia, Breast aplasia, Hypoplastic nipples, Absent nipple, Multiple cafe-au-lait spots, ...	ORPHA:69085
Agel Amyloidosis	Nail dystrophy, Diffuse skin atrophy, Dry skin, Cutis laxa, Sparse hair	ORPHA:85448
Hallermann-Streiff Syndrome	Abnormality of hair texture, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Der...	ORPHA:2108
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Cutis laxa, Atrophic scars, Dermal translucency, Sparse hair	OMIM:615349
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Nail dystrophy, Absent eyelashes, Patchy alopecia, Sparse eyelashes, Anhidrosis, Sparse body hair...	OMIM:106260
Nestor-Guillermo Progeria Syndrome	Nail dystrophy, Sparse scalp hair, Dry skin, Sparse eyelashes, Sparse eyebrow, Alopecia	OMIM:614008
Johanson-Blizzard Syndrome	Abnormal hair pattern, Alopecia	ORPHA:2315
Dyskeratosis Congenita, Digenic	Sparse eyelashes, Nail dystrophy, Alopecia	OMIM:620040
Autosomal Dominant Hypocalcemia	Abnormality of the nail, Abnormal fingernail morphology, Dry skin, Alopecia	ORPHA:428
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia	OMIM:304790
Focal Dermal Hypoplasia	Abnormality of the nail, Aplasia/Hypoplasia of the skin, Skin nodule, Macule, Thin skin, Dermal a...	ORPHA:2092
Phakomatosis Pigmentokeratotica	Linear nevus sebaceous, Patchy alopecia, Hyperhidrosis, Nevus spilus, Melanocytic nevus, Blue nevus	ORPHA:2874
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia	ORPHA:93160
Scarf Syndrome	Hypoplastic nipples, Low posterior hairline, Cutis laxa, Low anterior hairline, Sparse hair	OMIM:312830
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia universalis, Nail dystrophy, Alopecia	OMIM:240300
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Breast hypoplasia, Alopecia of scalp, Abnormal eyebrow morphology, Sparse eyebrow, Sparse pubic h...	ORPHA:2232
46,Xy Sex Reversal 6	Hirsutism, Sparse axillary hair	OMIM:613762
Giant Cell Arteritis	Hyperhidrosis, Skin ulcer, Alopecia	ORPHA:397
Progeria-Short Stature-Pigmented Nevi Syndrome	Hyperpigmented nevi, Low posterior hairline, Alopecia	ORPHA:2959
Holocarboxylase Synthetase Deficiency	Alopecia	OMIM:253270
Ablepharon Macrostomia Syndrome	Breast hypoplasia, Excessive wrinkled skin, Absent eyelashes, Redundant skin, Dry skin, Absent ey...	ORPHA:920
Chondrodysplasia Punctata, Autosomal Dominant	Coarse hair, Sparse hair	OMIM:118650
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Scaling skin, Alopecia universalis, Patchy alopecia	OMIM:606367
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse facial hair, Fine hair, Fair hair	OMIM:250250
Aredyld Syndrome	Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Xeroderma Pigmentosum	Hypopigmented skin patches, Hypermelanotic macule, Dry skin, Macule, Thin skin, Dermal atrophy, M...	ORPHA:910
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Premature graying of hair, Nail dysplasia, Nail dystrophy, Thin skin, Sparse hair, Fine hair, Der...	OMIM:612199
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature graying of hair, Premature skin wrinkling, Absent eyelashes, Absent eyebrow, Sparse hai...	ORPHA:363618
Systemic Sclerosis	Nail bed telangiectasia, Acral ulceration, Cutaneous sclerotic plaque, Alopecia, Hypohidrosis, Di...	ORPHA:90291
Mogs-Cdg	Fair hair, Hirsutism, Long eyelashes, Alopecia	ORPHA:79330
Kid Syndrome	Scaling skin, Trichilemmoma, Nail dystrophy, Scarring alopecia of scalp, Sparse eyelashes, Skin n...	ORPHA:477
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Hirsutism, Striae distensae, Alopecia	ORPHA:189427
Immunodeficiency 7	Patchy alopecia	OMIM:615387
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Nail dysplasia, Fine hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow	OMIM:614091
Linear Nevus Sebaceus Syndrome	Melanocytic nevus, Alopecia	ORPHA:2612
Selective Igm Deficiency	Crohn's disease, Recurrent vulvovaginal candidiasis, Decreased specific antibody response to vacc...	ORPHA:331235
Secondary Non-Traumatic Avascular Necrosis	Rheumatoid arthritis, Autoimmunity, Limitation of joint mobility, Systemic lupus erythematosus	ORPHA:399180
Localized Scleroderma	Hypopigmented skin patches, Localized skin lesion, Cutaneous sclerotic plaque, Patchy alopecia, A...	ORPHA:90289
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Chronic gastri...	ORPHA:183675
Mixed Connective Tissue Disease	Purpura, Alopecia	ORPHA:809
Osteogenesis Imperfecta, Type Xx	Highly arched eyebrow, Sparse lateral eyebrow, Sparse hair	OMIM:618644
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	High anterior hairline, Highly arched eyebrow, Slow-growing hair, Low posterior hairline, Curly h...	OMIM:617506
Juvenile Dermatomyositis	Skin ulcer, Dry skin, Erythema, Alopecia	ORPHA:93672
Porphyria, Congenital Erythropoietic	Loss of eyelashes, Absent eyebrow, Atypical scarring of skin, Hypertrichosis, Alopecia	OMIM:263700
Omenn Syndrome	Alopecia	OMIM:603554
Marshall Syndrome	Sparse eyelashes, Sparse eyebrow, Sparse hair, Hypohidrosis	ORPHA:560
Nicolaides-Baraitser Syndrome	Excessive wrinkled skin, Premature skin wrinkling, Periorbital wrinkles, Sparse scalp hair, Low p...	OMIM:601358
Basel-Vanagaite-Smirin-Yosef Syndrome	Nevus flammeus of the forehead, Sparse hair	OMIM:616449
Ectodermal Dysplasia And Immunodeficiency 1	Aplasia of the eccrine sweat glands, Sparse hair	OMIM:300291
Systemic-Onset Juvenile Idiopathic Arthritis	Arthritis, Skin rash, Pericarditis, Anterior uveitis, Joint swelling, Autoimmunity, Juvenile rheu...	ORPHA:85414
Naxos Disease	Nail dystrophy, Woolly hair, Curly hair, Onycholysis, Sparse body hair, Sparse eyebrow, Subungual...	OMIM:601214
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia	OMIM:210210
Glass Syndrome	Nail dysplasia, Thin skin, Sparse hair, Long eyelashes	OMIM:612313
Ectodermal Dysplasia-Skin Fragility Syndrome	Scaling skin, Nail dystrophy, Hypohidrosis, Sparse hair, Alopecia universalis	ORPHA:158668
Hamamy Syndrome	Abnormal number of hair whorls, Low posterior hairline, Preauricular skin tag, Sparse eyelashes, ...	OMIM:611174
Encephalocraniocutaneous Lipomatosis	Nevus flammeus, Abnormal eyelash morphology, Subcutaneous nodule, Xanthomatosis, Alopecia	ORPHA:2396
Cardiofaciocutaneous Syndrome 1	Multiple lentigines, Numerous nevi, Slow-growing hair, Absent eyelashes, Low posterior hairline, ...	OMIM:115150
Revesz Syndrome	Nail dystrophy, Nail pits, Ridged fingernail, Sparse hair, Fine hair	OMIM:268130
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia totalis, Abnormality of the periungual region, Nail dystrophy, Alopecia	ORPHA:293978
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair	ORPHA:3068
Scalp-Ear-Nipple Syndrome	Nail dysplasia, Breast aplasia, Patchy alopecia, Dry skin, Hypohidrosis, Sparse pubic hair, Spars...	OMIM:181270
ERI1-related disease	Anonychia, Low anterior hairline, Sparse hair	OMIM:608739
Biotinidase Deficiency	Alopecia	OMIM:253260
Pediatric Systemic Lupus Erythematosus	Alopecia	ORPHA:93552
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair	OMIM:302960
Classical-Like Ehlers-Danlos Syndrome Type 2	Sacral dimple, Redundant skin, Piezogenic pedal papules, Widened atrophic scar, Alopecia	ORPHA:536532
Mandibuloacral Dysplasia With Type A Lipodystrophy	Onychogryposis, Sparse scalp hair, Dermal atrophy, Alopecia	OMIM:248370
Mosaic Variegated Aneuploidy Syndrome 2	Cafe-au-lait spot, Epidermoid cyst, Sparse hair	OMIM:614114
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis	OMIM:618775
Thymoma	Myositis, Abnormal lymphocyte physiology, Abnormal lymphocyte proliferation, Decreased circulatin...	ORPHA:99867
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Epidermal nevus, Small nail, Nevus, Erythema, Alopecia	OMIM:308050
Rheumatoid Arthritis	Anti-citrullinated protein antibody positivity, Polyarticular arthritis, Rheumatoid factor positi...	OMIM:180300
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Hirsutism, Synophrys, Long eyelashes, Thick eyebrow, Thin eyebrow, Sparse ...	OMIM:615485
Weaver Syndrome	Thin nail, Cutis laxa, Deep-set nails, Melanocytic nevus, Sparse hair, Fine hair	OMIM:277590
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse eyelashes, Fine hair, Sparse hair	OMIM:257850
Neutral Lipid Storage Disease With Ichthyosis	Alopecia	ORPHA:98907
Congenital Disorder Of Glycosylation, Type Iia	Hirsutism, Thick eyebrow, Sparse hair, Long eyelashes	OMIM:212066
Kikuchi-Fujimoto Disease	Erythematous macule, Papule, Skin nodule, Macule, Skin erosion, Skin plaque, Erythema, Alopecia	ORPHA:50918
Nablus Mask-Like Facial Syndrome	Highly arched eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse eyelashes, Sparse eyebrow, L...	OMIM:608156
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis	OMIM:277440
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hirsutism, Alopecia	ORPHA:90795
Craniolenticulosutural Dysplasia	Coarse hair, Sparse hair, Brittle hair	ORPHA:50814
Bartsocas-Papas Syndrome 1	Skin tags, Small nail, Absent eyelashes, Sparse scalp hair, Dry skin, Absent eyebrow, Anonychia, ...	OMIM:263650
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Multiple lentigines, Loose anagen hair, Sparse scalp hair, Long eyelashes, Curly hair, Cafe-au-la...	OMIM:607721
Premature Aging Syndrome, Penttinen Type	Skin nodule, Thin skin, Sparse hair, Keloids, Dermal atrophy	OMIM:601812
Orofaciodigital Syndrome Type 1	Coarse hair, Milia, Brittle hair, Dry skin, Sparse hair, Lip pit, Alopecia	ORPHA:2750
De Barsy Syndrome	Excessive wrinkled skin, Cutis laxa, Thin skin, Sparse hair, Dermal translucency	ORPHA:2962
Interstitial Granulomatous Dermatitis With Arthritis	Rheumatoid arthritis, Inflammatory abnormality of the skin, Rheumatoid factor positive	ORPHA:79099
Hallermann-Streiff Syndrome	Sparse scalp hair, Dry skin, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair, Dermal atr...	OMIM:234100
H Syndrome	Abnormal eyebrow morphology, Hypertrichosis, Alopecia	ORPHA:168569
Sjogren Syndrome	Rheumatoid arthritis, Autoimmunity, Tubulointerstitial nephritis, Keratoconjunctivitis sicca	OMIM:270150
Dermatomyositis	Facial erythema, Skin ulcer, V-sign, Abnormality of the nail, Abnormal hair quantity, Aplasia/Hyp...	ORPHA:221
Dyskeratosis Congenita, X-Linked	Premature graying of hair, Nail dystrophy, Ridged nail, Sparse eyelashes, Hyperhidrosis, Pterygiu...	OMIM:305000
Rothmund-Thomson Syndrome	Nail dysplasia, Small nail, Abnormality of the nail, Aplasia/Hypoplasia of the skin, Sparse eyela...	ORPHA:2909
Trichohepatoenteric Syndrome 1	Trichorrhexis nodosa, Brittle hair, Woolly hair, Curly hair, Cafe-au-lait spot, Sparse hair, Fine...	OMIM:222470
Celiac Disease, Susceptibility To, 1	Alopecia	OMIM:212750
Bone Marrow Failure Syndrome 3	Nail dystrophy, Small nail, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Hypomelanotic macule	OMIM:617052
Intellectual Developmental Disorder, Autosomal Dominant 54	Anhidrosis, Thin nail, Dry skin, Sparse hair	OMIM:617799
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Toenail dysplasia, Hirsutism, Synophrys, Sparse hair, Aplasia cutis congenita	OMIM:300966
Opitz-Kaveggia Syndrome	Skin tags, Sacral dimple, Facial wrinkling, Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:305450
Atypical Werner Syndrome	Premature graying of hair, Skin ulcer, Abnormal hair morphology, Abnormal hair quantity, Aplasia/...	ORPHA:79474
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia	OMIM:269200
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Sparse hair	OMIM:615508
Leigh Syndrome	Frontal hirsutism, Hypertrichosis, Alopecia	ORPHA:506
Sympathetic Ophthalmia	Erythema, Poliosis, Alopecia	ORPHA:79098
Oculodentodigital Dysplasia	Brittle hair, Slow-growing hair, Abnormality of the nail, Curly hair, Abnormal fingernail morphol...	ORPHA:2710
Orofaciodigital Syndrome I	Dry hair, Milia, Sparse hair, Alopecia	OMIM:311200
Behcet Syndrome	Patchy alopecia, Erythema	OMIM:109650
Biotinidase Deficiency	Alopecia	ORPHA:79241
Goldberg-Shprintzen Syndrome	Highly arched eyebrow, Thick eyebrow, Sparse hair, Synophrys	OMIM:609460
Woodhouse-Sakati Syndrome	Fine hair, Sparse hair, Alopecia	OMIM:241080
Teebi-Shaltout Syndrome	Highly arched eyebrow, Slow-growing hair, Low anterior hairline, Sparse hair	OMIM:272950
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hypoplastic fingernail, Abnormal hair morphology, Hyperconvex fingernails, Abnormality of the nai...	ORPHA:2273
Ablepharon-Macrostomia Syndrome	Hypoplastic fingernail, Premature skin wrinkling, Redundant skin, Absent eyelashes, Hypoplastic n...	OMIM:200110
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Fine hair, Sparse hair, Brittle hair	OMIM:618891
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Nail dysplasia, Breast hypoplasia, Sparse hair, Small nail	OMIM:614813
Kaufman Oculocerebrofacial Syndrome	Thin skin, Sparse eyebrow, Sparse hair, Preauricular skin tag	OMIM:244450
Stuve-Wiedemann Syndrome 1	Premature skin wrinkling, Milia, Thin skin, Hyperhidrosis, Sparse hair	OMIM:601559
Monosomy 22	Hyperhidrosis, Sparse hair, Synophrys	ORPHA:96123
Scalp-Ear-Nipple Syndrome	Hypohidrosis, Abnormal fingernail morphology, Sparse hair, Breast aplasia	ORPHA:2036
Rothmund-Thomson Syndrome Type 1	Nail dysplasia, Facial erythema, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypoplasia of t...	ORPHA:221008
Colchicine Poisoning	Alopecia	ORPHA:31824
Rothmund-Thomson Syndrome Type 2	Nail dysplasia, Facial erythema, Sparse or absent eyelashes, Erythema, Sparse hair, Aplasia/Hypop...	ORPHA:221016
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Highly arched eyebrow, Low posterior hairline, Cafe-au-lait spot, Sparse hair, Fine hair	OMIM:613563
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Fine hair, Sparse hair	ORPHA:251028
Severe Generalized Junctional Epidermolysis Bullosa	Nail dystrophy, Abnormality of the nail, Skin plaque, Anonychia, Paronychia, Skin erosion, Aplasi...	ORPHA:79404
Relapsing Polychondritis	Macule, Purpura, Erythema, Alopecia	ORPHA:728
Oculodentodigital Dysplasia	Slow-growing hair, Fragile nails, Sparse hair, Fine hair, Dry hair	OMIM:164200
Adams-Oliver Syndrome 1	Aplasia cutis congenita over posterior parietal area, Small nail, Aplasia cutis congenita on trun...	OMIM:100300
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Scaling skin, Nail dysplasia, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Periungua...	OMIM:308205
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Nail dysplasia, Hypoplastic nipples, Sparse scalp hair, Sparse eyelashes, Thin skin, Sparse eyebr...	OMIM:129900
White-Sutton Syndrome	Sparse hair	OMIM:616364
Cockayne Syndrome B	Abnormal hair morphology, Dry skin, Anhidrosis, Dermal atrophy, Sparse hair, Atypical scarring of...	OMIM:133540
Short Stature, Microcephaly, And Endocrine Dysfunction	Sparse hair	OMIM:616541
Menkes Disease	Hypopigmentation of hair, Dry skin, Woolly hair, Sparse hair, Atypical scarring of skin	ORPHA:565
Combined Immunodeficiency-Enteropathy Spectrum	Nail dystrophy, Alopecia of scalp, Sparse hair, Absent eyebrow	ORPHA:436252
Craniolenticulosutural Dysplasia	Coarse hair, Sparse hair, Brittle hair	OMIM:607812
Autosomal Recessive Robinow Syndrome	Sacral dimple, Nevus flammeus, Long eyelashes, Fingernail dysplasia, Alopecia	ORPHA:1507
Chime Syndrome	Fine hair, Skin ulcer, Erythema, Sparse hair	ORPHA:3474
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Antiphospholipid antibody positivity, Decreased circulating antibody level, Tubuloint...	ORPHA:227990
Autosomal Dominant Robinow Syndrome	Sacral dimple, Naevus flammeus of the eyelid, Curly eyelashes, Long eyelashes, Onychogryposis of ...	ORPHA:3107
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Nail dystrophy, Alopecia	ORPHA:37042
Cerebellar-Facial-Dental Syndrome	Fine hair, Sparse eyebrow, Sparse hair	ORPHA:444072
Lysinuric Protein Intolerance	Cutis laxa, Fine hair, Sparse hair	OMIM:222700
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Antiphospholipid antibody positivity, Decreased circulating antibody level, Tubuloint...	ORPHA:227982
Insulin-Resistance Syndrome Type B	Hirsutism, Alopecia	ORPHA:2298
Woodhouse-Sakati Syndrome	Scaling skin, Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Skin rash, Rheumatoid arthritis, Autoimmunity, Autoimmune thrombocyt...	ORPHA:100026
Felty Syndrome	Rheumatoid arthritis	OMIM:134750
Marshall-Smith Syndrome	Brittle hair, Highly arched eyebrow, Synophrys, Thick eyebrow, Sparse hair, Melanocytic nevus, Hy...	OMIM:602535
Myasthenia Gravis	Myositis, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis, Hashimoto thyroidi...	ORPHA:589
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Sparse body hair	ORPHA:432
Phosphoribosylpyrophosphate Synthetase Superactivity	Sparse hair	OMIM:300661
Cockayne Syndrome A	Dry skin, Anhidrosis, Sparse hair, Atypical scarring of skin, Dry hair	OMIM:216400
Overlap Myositis	Subluxation of the small joints of the hand, Arthritis, Rheumatoid arthritis, Antinuclear antibod...	ORPHA:206572
Lenz-Majewski Hyperostotic Dwarfism	Cutis laxa, Thin skin, Sparse hair	OMIM:151050
Wiedemann-Rautenstrauch Syndrome	Alopecia of scalp, Broad eyebrow, Premature skin wrinkling, Small nail, Absent eyelashes, Sparse ...	OMIM:264090
Cartilage-Hair Hypoplasia	Sparse eyebrow, Sacral dimple, Sparse hair	ORPHA:175
Achalasia, Familial Esophageal	Rheumatoid arthritis, Keratoconjunctivitis sicca	OMIM:200400
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Hypoplastic nipples, Dry skin, Sparse lateral eyebrow, Sparse hair, Fine hair	OMIM:280000
Koolen-De Vries Syndrome Due To A Point Mutation	Sacral dimple, Numerous nevi, Cafe-au-lait spot, Fair hair, Alopecia	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Sacral dimple, Numerous nevi, Cafe-au-lait spot, Fair hair, Alopecia	ORPHA:363958
Restrictive Dermopathy	Scaling skin, Sparse or absent eyelashes, Aplasia/Hypoplastia of the eccrine sweat glands, Short ...	ORPHA:1662
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent otitis media, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Recurrent sinusitis,...	OMIM:607944
Alstrom Syndrome	Alopecia	OMIM:203800
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair	OMIM:619934
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Nail dysplasia, Sparse hair, Preauricular skin tag	OMIM:616682
Trichorhinophalangeal Syndrome, Type Ii	Alopecia of scalp, Sparse scalp hair, Dry skin, Redundant skin in infancy, Cutis laxa, Hypohidros...	OMIM:150230
Ring Chromosome 13 Syndrome	Cafe-au-lait spot, Alopecia	ORPHA:96176
Costello Syndrome	Redundant neck skin, Thin nail, Curly hair, Deep-set nails, Fragile nails, Sparse hair, Concave n...	OMIM:218040
Mucolipidosis Ii Alpha/Beta	Sparse eyebrow, Sparse hair, Brittle hair	OMIM:252500
Cranioectodermal Dysplasia 1	Thin nail, Slow-growing hair, Short nail, Sparse hair, Fine hair	OMIM:218330
Down Syndrome	Sparse hair	ORPHA:870
Neurocardiofaciodigital Syndrome	Sparse eyebrow, Sparse hair	OMIM:619869
Branchiooculofacial Syndrome	Premature graying of hair, Supraauricular pit, Hypoplastic fingernail, Low posterior hairline, De...	OMIM:113620
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Dry skin, Thin skin, Sparse hair, Facial wrinkling	OMIM:606721
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Nail dystrophy, Small nail, Hypoplastic nipples, Absent nipple, Preauricular pit, Sparse eyebrow,...	OMIM:620186
Lymphoid Interstitial Pneumonia	Skin rash, Eczematoid dermatitis, Rheumatoid arthritis, Autoimmune antibody positivity, Bronchiec...	ORPHA:79128
Turner Syndrome Due To Structural X Chromosome Anomalies	Nevus, Hyperconvex fingernails, Low posterior hairline, Abnormal fingernail morphology, Melanocyt...	ORPHA:99413
Turner Syndrome	Nevus, Hyperconvex fingernails, Low posterior hairline, Abnormal fingernail morphology, Melanocyt...	ORPHA:881
Mosaic Monosomy X	Nevus, Hyperconvex fingernails, Low posterior hairline, Abnormal fingernail morphology, Melanocyt...	ORPHA:99228
Monosomy X	Nevus, Hyperconvex fingernails, Low posterior hairline, Abnormal fingernail morphology, Melanocyt...	ORPHA:99226
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Redundant neck skin, Sacral dimple, Preauricular skin tag, Frontal hirsutism, Sparse hair	OMIM:617157
Cranioectodermal Dysplasia 2	Sparse eyelashes, Cutis laxa, Sparse eyebrow, Sparse hair	OMIM:613610
Hutchinson-Gilford Progeria Syndrome	Dystrophic fingernails, Hypermelanotic macule, Loss of eyelashes, Premature skin wrinkling, Dystr...	ORPHA:740
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia	OMIM:619321
Focal Dermal Hypoplasia	Nail dysplasia, Nail dystrophy, Ridged nail, Brittle hair, Hypoplastic nipples, Patchy alopecia, ...	OMIM:305600
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Thin eyebrow, Loss of eyelashes, Sparse hair, Alopecia	ORPHA:2636
Wrinkly Skin Syndrome	Redundant skin, Short nail, Fragile nails, Sparse hair, Palmoplantar cutis laxa, Neonatal wrinkle...	OMIM:278250
Igg4-Related Retroperitoneal Fibrosis	Deep dermal perivascular inflammatory infiltrate, Anti-smooth muscle antibody positivity, Rheumat...	ORPHA:49041
Myhre Syndrome	Fine hair, Thick eyebrow, Sparse hair	OMIM:139210
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Sparse hair	OMIM:620005
Systemic Lupus Erythematosus	Alopecia	ORPHA:536
Chilton-Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Sparse scalp hair, Synophrys, Sparse lateral eyebrow, Long eyelashes, Spar...	OMIM:619841
Hereditary Xanthinuria	Rheumatoid arthritis, Arthropathy, Gout	ORPHA:3467
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Sparse body hair, Sparse pubic hair, Sparse axillary hair	ORPHA:90796
Wrinkly Skin Syndrome	Cutis laxa, Excessive wrinkled skin, Sparse hair, Excessive skin wrinkling on dorsum of hands and...	ORPHA:2834
Bloom Syndrome	Sparse eyelashes, Cafe-au-lait spot, Paronychia, Patchy alopecia	ORPHA:125
Mandibuloacral Dysplasia Progeroid Syndrome	Nail dystrophy, Sparse eyebrow, Sparse hair	OMIM:619127
Vascular Ehlers-Danlos Syndrome	Excessive wrinkled skin, Abnormal eyelash morphology, Abnormality of hair texture, Redundant skin...	ORPHA:286
Roberts Syndrome	Sparse hair	ORPHA:3103
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Dry skin, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair	OMIM:210710
Sarcoidosis	Skin nodule, Skin plaque, Subcutaneous nodule, Alopecia	ORPHA:797
Steinert Myotonic Dystrophy	Early balding, Alopecia	ORPHA:273
Renpenning Syndrome 1	Sparse lateral eyebrow, Sparse hair, Brittle hair	OMIM:309500
Wiedemann-Rautenstrauch Syndrome	Premature skin wrinkling, Hirsutism, Sparse scalp hair, Synophrys, Thin skin, Aplasia/Hypoplasia ...	ORPHA:3455
African Trypanosomiasis	Erythematous macule, Alopecia	ORPHA:3385
Viss Syndrome	Cutis laxa, Hirsutism, Sparse scalp hair, Alopecia	OMIM:619472
Pallister-Killian Syndrome	Sacral dimple, Sparse anterior scalp hair, Sparse scalp hair, Sparse eyelashes, Anhidrosis, Spars...	OMIM:601803
Menke-Hennekam Syndrome 1	Thick eyebrow, Sparse hair, Long eyelashes	OMIM:618332
Primrose Syndrome	Dystrophic fingernails, Sparse scalp hair, Synophrys, Sparse body hair, Absent axillary hair, Abs...	OMIM:259050
Roberts-Sc Phocomelia Syndrome	Cafe-au-lait spot, Sparse hair	OMIM:268300

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 Ksr1

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 Ksr1.

No publications found that use IMPC mice or data for Ksr1.

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MGI Allele	Allele Type	Produced
Ksr1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ksr1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ksr1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ksr1^{tm11(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ksr1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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