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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, D11Bhm184e, B-KSR1

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 (590 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	Sparse scalp hair, Subcutaneous nodule, Nevus sebaceous, Papule	ORPHA:840
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Darier Disease	Macule, Hypermelanotic macule, Acrokeratosis, Abnormal hair morphology, Plantar pits, Skin vesicl...	ORPHA:218
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Dermal atrophy, Alopecia of scalp, Sparse body hair, Dystro...	OMIM:617294
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Skin vesi...	OMIM:613102
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Aplasia/Hypoplasia of the skin, Hyperconvex fingernails, Dermal atrophy, Skin vesicle, ...	ORPHA:257
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
L-Ferritin Deficiency	Alopecia	OMIM:615604
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni...	ORPHA:1008
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Skin erosion, Localized skin lesion, Erythematous papule, Hyperke...	ORPHA:79410
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno...	ORPHA:248
Tooth Agenesis, Selective, 8	Sparse eyebrow, Dry skin, Sparse hair	OMIM:617073
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Atrophic scars, Skin dimple, Sp...	ORPHA:79133
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Kerion Celsi	Alopecia	ORPHA:499
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Hypermelanotic macule, Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, N...	ORPHA:79397
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia	ORPHA:346
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Papule, Abnormality of the nail, Aplasia/H...	ORPHA:129
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Melanocytic nevus, Sparse hair, Abnormal toenail morphology, Sparse ...	ORPHA:1818
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse...	OMIM:129490
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Aredyld	Generalized hypotrichosis	OMIM:207780
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Hypohidrosis, Dystroph...	ORPHA:1882
Dowling-Degos Disease	Hypopigmented macule, Abnormal fingernail morphology, Epidermoid cyst, Hypermelanotic macule, Pal...	ORPHA:79145
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Alopecia of scalp, Trichodysplasia	ORPHA:79129
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Dermoodontodysplasia	Sparse scalp hair, Melanocytic nevus, Hypohidrosis, Fingernail dysplasia, Thin skin, Trichodyspla...	ORPHA:1660
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Skin vesicle, Nail dystrophy, Erythema migrans	ORPHA:158681
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Hypopigmented skin patches, Fingernail dysplasia, Sparse hair, Onychogryposis of finger...	ORPHA:2251
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Sparse hair, Pili torti	OMIM:607903
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Dry skin, Nail dystrophy, Trichodysplas...	ORPHA:2890
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Atrophic scars, Nail dystrophy, Milia, Aplasia cutis congenita, Anony...	ORPHA:79402
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Subcutaneous nodule, Sparse or absent eyelashes, Coarse hair, ...	ORPHA:113
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Lack of skin elasticity, A...	ORPHA:1366
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Facial erythema, Nail dystrophy, Nail dysplasia, Dry skin	OMIM:212360
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant	Sparse scalp hair, Palmar pits, Hypohidrosis, Papule, Comedo	OMIM:605827
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Anhidrosis, Absent eyelashes, Nail dystrophy, Scaling skin, Sparse hair, Alopecia...	OMIM:604536
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Sparse hair, Widow's peak, Thick eyebrow	OMIM:606242
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er...	OMIM:104100
Erythrokeratodermia Variabilis	Macule, Alopecia, Hypermelanotic macule, Abnormal hair morphology, Erythema, Abnormality of the n...	ORPHA:317
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Hypohidrosis, Sparse hair, Dry skin, Spar...	OMIM:618535
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair...	OMIM:224750
Moynahan Syndrome	Sparse hair, Alopecia	ORPHA:2574
Oliver-Mcfarlane Syndrome	Sparse hair, Alopecia, Long eyelashes, Long eyebrows	OMIM:275400
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair	ORPHA:2985
Autosomal Dominant Hyper-Ige Syndrome	Abnormal hair morphology, Paronychia, Skin ulcer, Skin vesicle, Dystrophic fingernails, Papule	ORPHA:2314
Pruritic Urticarial Papules And Plaques Of Pregnancy	Urticarial plaque, Facial erythema, Erythematous plaque, Skin vesicle, Palmoplantar erythema, Ery...	ORPHA:64745
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair, Cafe-au-lait spot	OMIM:618625
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Hypohidrosis, Thin skin, Sparse hair, Sparse body hair	ORPHA:1810
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Onycholysis	OMIM:176100
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Onycholysis, De...	ORPHA:525
Proliferating Trichilemmal Cyst	Sparse scalp hair, Epidermoid cyst, Skin ulcer	ORPHA:492
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp, Dermal atrophy	OMIM:136300
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy	OMIM:619692
Classic Mycosis Fungoides	Alopecia, Erythema, Hypopigmented skin patches, Skin ulcer, Skin plaque, Dry skin, Abnormality of...	ORPHA:2584
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair...	ORPHA:90368
Porphyria Variegata	Localized skin lesion, Skin vesicle, Skin erosion, Milia, Hypertrichosis	ORPHA:79473
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Bazex-Dupre-Christol Syndrome	Hypohidrosis, Coarse hair, Milia, Nevus, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexi...	OMIM:301845
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Fibrodysplasia Ossificans Progressiva	Alopecia, Subcutaneous nodule	ORPHA:337
Bjornstad Syndrome	Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular int...	OMIM:262000
Lipoid Proteinosis Of Urbach And Wiethe	Skin erosion, Patchy alopecia, Papule, Skin plaque	OMIM:247100
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, A...	ORPHA:251393
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Lichen Planus Pemphigoides	Skin vesicle, Abnormality of the nail	ORPHA:254478
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Dyskeratosis Congenita	Macule, Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernai...	ORPHA:1775
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Focal Facial Dermal Dysplasia Type Iii	Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Hi...	ORPHA:1807
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Sparse hair, Alopecia, Long eyelashes	ORPHA:3363
Focal Facial Dermal Dysplasia 3, Setleis Type	Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes	OMIM:227260
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Erythema Elevatum Diutinum	Skin vesicle, Skin nodule	ORPHA:90000
Immunodeficiency 61	Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,...	OMIM:300310
Keratoderma Hereditarium Mutilans	Alopecia, Abnormality of the nail, Papule, Abnormal toenail morphology	ORPHA:494
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia	OMIM:615704
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Pemphigoid Gestationis	Skin vesicle	ORPHA:63275
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Sparse...	OMIM:602400
Pemphigus Foliaceus	Erythema, Erythematous plaque, Serpiginous cutaneous lesion, Annular cutaneous lesion, Scaling sk...	ORPHA:79481
Epidermolysis Bullosa, Junctional 5A, Intermediate	Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope...	OMIM:619816
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Dermatitis Herpetiformis	Macule, Skin vesicle, Erythema	ORPHA:1656
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Hypermelanotic macule, Dry skin, Hypomelanotic macule, Nail dystrophy, Scaling skin, Al...	OMIM:618373
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair, Sacral dimple, Preauricular pit	OMIM:273390
Bathing Suit Ichthyosis	Alopecia, Hypohidrosis, Palmoplantar scaling skin, Nail dystrophy, Scaling skin, Sparse hair	ORPHA:100976
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Dry skin, Absent hair	OMIM:614940
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Nail dys...	OMIM:612843
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Epidermolysis Bullosa, Junctional 1A, Intermediate	Patchy alopecia, Nail dystrophy, Fragile nails, Palmar hyperhidrosis	OMIM:226650
Pyoderma Gangrenosum	Skin vesicle, Atrophic scars, Papule, Skin ulcer	ORPHA:48104
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Anhidrosis, Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Palmoplantar hyperhid...	ORPHA:659
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Hypohidrosis	ORPHA:181
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, T...	OMIM:607823
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Hyperhidrosis	OMIM:613576
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:1006
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Dermal atrophy, Sparse body hair	ORPHA:69735
Progeroid Syndrome, Petty Type	Brittle hair, Redundant skin, Abnormal hair morphology, Cutis laxa, Abnormality of the nail, Long...	ORPHA:2963
Rhizomelic Chondrodysplasia Punctata	Alopecia, Dry skin, Sparse body hair	ORPHA:177
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Scaling ski...	ORPHA:2269
Familial Benign Chronic Pemphigus	Skin vesicle, Skin erosion, Erythema	ORPHA:2841
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Skin ulcer, ...	ORPHA:978
Pachyonychia Congenita	Alopecia, Epidermoid cyst, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dys...	ORPHA:2309
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Wells Syndrome	Skin vesicle	ORPHA:901
Xq27.3Q28 Duplication Syndrome	Sparse body hair	ORPHA:261483
Hypomelanosis Of Ito	Macular hypopigmented whorls, streaks, and patches, Alopecia	OMIM:300337
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,...	OMIM:614941
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Nicolaides-Baraitser Syndrome	Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Excessive wrinkled skin,...	ORPHA:3051
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia	OMIM:203550
Ichthyosis, Congenital, Autosomal Recessive 2	Anhidrosis, Alopecia, Thin nail, Abnormal hair morphology, Erythema, Hypohidrosis, Small nail	OMIM:242100
Centrifugal Lipodystrophy	Alopecia, Erythema, Scaling skin	ORPHA:90156
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Nail dystrophy, Atrichia	ORPHA:1867
Blepharocheilodontic Syndrome 1	Nail dysplasia, Small nail, Sparse hair, Aplasia cutis congenita over the scalp vertex, High ante...	OMIM:119580
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Pyoderma gangrenosum	OMIM:616576
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Oculocerebrocutaneous Syndrome	Alopecia, Focal dermal aplasia/hypoplasia	OMIM:164180
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Aplasia cutis congenita, Absent fingernail, Skin erosion, Anonychia, Alopecia u...	OMIM:609638
Trichothiodystrophy 8, Nonphotosensitive	Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:619691
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Preauricular pit, Alopecia, Hyperpigmented papule	ORPHA:88630
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Gand Syndrome	Sparse hair	OMIM:615074
Iga Pemphigus	Skin vesicle, Skin erosion, Skin plaque, Annular cutaneous lesion	ORPHA:555905
Congenital Ichthyosiform Erythroderma	Alopecia, Abnormality of the nail, Hypohidrosis	ORPHA:79394
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Skin dimple, Thin skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia, Melanocytic nevus	OMIM:612079
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Low posterior hairline	ORPHA:2183
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec...	ORPHA:2930
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair	ORPHA:59303
Ichthyosis, Congenital, Autosomal Recessive 1	Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia	OMIM:242300
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair	ORPHA:1897
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypopigmented skin patches	ORPHA:3143
Hennekam-Beemer Syndrome	Macule, Erythema, Subcutaneous nodule, Skin vesicle, Papule	ORPHA:2135
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Cutis laxa	OMIM:309400
Flynn-Aird Syndrome	Alopecia, Dermal atrophy, Skin ulcer	ORPHA:2047
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Alopecia-Intellectual Disability Syndrome 4	Alopecia	OMIM:618840
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Multiple cafe-au-lait spots, Hypohidrosis, Sparse hair	ORPHA:2316
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair	ORPHA:1839
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Periorbital wrinkles, Sparse hair	OMIM:224900
Acrofacial Dysostosis, Palagonia Type	Aplasia/Hypoplasia of the skin, Sparse eyelashes, Low anterior hairline, Dermal atrophy, Thin eye...	ORPHA:1787
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:616819
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Facial erythema...	ORPHA:1010
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Sweet Syndrome	Skin nodule, Pyoderma gangrenosum, Erythematous plaque, Panniculitis, Skin vesicle, Erythematous ...	ORPHA:3243
Ifap Syndrome 2	Sparse hair, Perioral erythema, Nail dystrophy, Atrichia	OMIM:619016
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Hyperhidrosis, Cafe-au-lait spot, Multiple lentigin...	OMIM:615280
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Palmoplantar scaling skin, Nail dystrophy, Palmoplant...	OMIM:605676
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Erythema, Dry sk...	OMIM:257980
Systemic Lupus Erythematosus 17	Alopecia	OMIM:301080
Lessel-Kubisch Syndrome	Sparse pubic hair, Premature graying of hair	OMIM:618681
Olmsted Syndrome 1	Subungual hyperkeratosis, Hyperhidrosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia un...	OMIM:614594
Keratoderma Hereditarium Mutilans With Ichthyosis	Scaling skin on fingertip, Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Coarse hair, Brittle hair	ORPHA:1883
Lelis Syndrome	Yellow nails, Absent lower eyelashes, Hypohidrosis, Nail dystrophy, Sparse hair, Abnormal toenail...	ORPHA:140936
Leukocyte Adhesion Deficiency Type Ii	Skin vesicle, Long eyelashes, Low anterior hairline, Broad eyebrow	ORPHA:99843
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Sparse pubic hair, Sparse axillary hair	OMIM:146110
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ...	OMIM:234050
Lamellar Ichthyosis	Lack of skin elasticity, Sparse hair, Dry skin, Abnormality of the nail, Aplasia/Hypoplasia of th...	ORPHA:313
Filippi Syndrome	Sparse hair, Frontal hirsutism, Hypertrichosis	OMIM:272440
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Dry skin, Fine hair, P...	OMIM:129400
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia	OMIM:215100
Trichohepatoenteric Syndrome 2	Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:614602
Even-Plus Syndrome	Sparse hair, Aplasia cutis congenita, Synophrys, Highly arched eyebrow	OMIM:616854
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Nail dystrophy	OMIM:616353
Adams-Oliver Syndrome 2	Aplasia cutis congenita, Alopecia, Low anterior hairline, Small nail	OMIM:614219
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse hair, Sparse eyebrow	OMIM:619989
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Thin skin, Palmoplantar hyperhi...	OMIM:150400
Mandibulofacial Dysostosis With Alopecia	Preauricular pit, Preauricular skin tag, Alopecia, Sparse eyelashes	OMIM:616367
Sézary Syndrome	Alopecia, Dry skin, Nail dystrophy	ORPHA:3162
Satoyoshi Syndrome	Alopecia, Alopecia universalis	OMIM:600705
Trichotillomania	Alopecia	OMIM:613229
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Hypohidrosis, Dystrophic toenail, Nail dystrophy, Spa...	ORPHA:3253
Anauxetic Dysplasia 2	Sparse hair, Nail dysplasia, Small nail	OMIM:617396
Noonan Syndrome 6	Curly hair, Long eyebrows, Low posterior hairline, Multiple lentigines, Sparse hair, Cafe-au-lait...	OMIM:613224
Keutel Syndrome	Alopecia, Dermal atrophy	ORPHA:85202
Olmsted Syndrome 2	Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair, Dry skin	OMIM:607626
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Brittle hair, Nail dystrophy	ORPHA:75389
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Thin eyebrow	ORPHA:3242
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ...	OMIM:300953
Acute Generalized Exanthematous Pustulosis	Skin vesicle, Scaling skin, Purpura	ORPHA:293173
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Alopecia totalis	OMIM:300918
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:3453
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Skin ulcer, Hypohidrosis, Fine hair, Sparse hair	ORPHA:1806
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Erythema, Skin ulcer, Ridged fing...	ORPHA:37
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Dry skin	OMIM:268020
Bleeding Disorder, Platelet-Type, 21	Alopecia	OMIM:617443
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin skin, Nail dysplasia, Sparse ha...	ORPHA:217346
Chronic Graft Versus Host Disease	Alopecia, Erythema, Intermittent generalized erythematous papular rash, Skin ulcer, Onycholysis, ...	ORPHA:99921
Oculocerebrocutaneous Syndrome	Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Hypopigmente...	ORPHA:1647
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Androgen Insensitivity Syndrome	Sparse pubic hair, Absent facial hair, Sparse axillary hair	OMIM:300068
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Hypoplastic nipples, Small nail	OMIM:273400
Incontinentia Pigmenti	Ridged nail, Alopecia, Supernumerary nipple, Erythema, Nail pits, Fine hair, Coarse hair, Breast ...	OMIM:308300
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow	OMIM:261990
Autoimmune Lymphoproliferative Syndrome, Type Iii	Erythematous macule, Alopecia	OMIM:615559
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Atrophic scars, Nail dystrophy, Nail dysplasia, Milia	OMIM:226600
Intellectual Developmental Disorder, Autosomal Recessive 5	Sparse hair, Synophrys, Thick eyebrow	OMIM:611091
Cranioectodermal Dysplasia	Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology	ORPHA:1515
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Anhidrosis, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent e...	OMIM:305100
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Dermal translucency	OMIM:137940
Kury-Isidor Syndrome	Sacral dimple, Alopecia, Hypertrichosis	OMIM:619762
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Chanarin-Dorfman Syndrome	Alopecia	OMIM:275630
Desbuquois Syndrome	Sparse hair, Abnormal eyelash morphology	ORPHA:1425
Tetrasomy 12P	Sparse hair, Sparse eyebrow, Hypohidrosis	ORPHA:884
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Dry skin	OMIM:618282
Congenital Disorder Of Glycosylation, Type Im	Sparse eyebrow, Alopecia, Dry skin, Sparse eyelashes	OMIM:610768
2Q32Q33 Microdeletion Syndrome	Sparse hair, Fine hair	ORPHA:251019
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Hirsutism	OMIM:615830
Cardiocranial Syndrome, Pfeiffer Type	Sparse hair, Abnormal hair whorl	ORPHA:2872
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Multiple cafe-au-lait spots, Patchy alopecia	ORPHA:85279
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse facial hair, Sparse axillary hair	OMIM:608154
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sparse hair, Alopecia, Fragile nails	OMIM:242150
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy, Small nail, Sparse hair, T...	OMIM:601675
X-Linked Agammaglobulinemia	Alopecia, Hypopigmented skin patches, Skin ulcer	ORPHA:47
Schimmelpenning-Feuerstein-Mims Syndrome	Linear nevus sebaceous, Alopecia, Nevus sebaceous, Nevus	OMIM:163200
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Abnormal hair morphology, Dermal atrophy, Nail dystrophy, Thin skin	ORPHA:90154
Omenn Syndrome	Alopecia, Dry skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:39041
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Lack of skin elasticity, Breast aplasia,...	ORPHA:90153
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
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Hirsutism	OMIM:618087
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Sparse hair, Alopecia, Abnormal toenail morphology, Hypohidrosis	ORPHA:1005
Adams-Oliver Syndrome	Alopecia, Aplasia/Hypoplasia of the skin, Aplastic/hypoplastic toenail, Absent fingernail, Sparse...	ORPHA:974
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair	OMIM:300869
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Sacral dimple, Hypoplastic toenail...	ORPHA:544488
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin	OMIM:613990
Intellectual Developmental Disorder, Autosomal Dominant 65	Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline	OMIM:619320
Monosomy 18P	Alopecia, Low posterior hairline	ORPHA:1598
Mandibuloacral Dysplasia	Sparse hair, Alopecia, Thin skin, Hypoplastic fingernail	ORPHA:2457
Papillon-Lefèvre Syndrome	Abnormal fingernail morphology, Cigarette-paper scars, Hypopigmented skin patches, Nail dystrophy...	ORPHA:678
Holocarboxylase Synthetase Deficiency	Alopecia	ORPHA:79242
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Dermal atrophy, Spar...	OMIM:127550
Bresek Syndrome	Alopecia	ORPHA:85284
Cerebrooculofacioskeletal Syndrome 2	Sparse hair	OMIM:610756
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis	ORPHA:3130
Cutis Laxa, Autosomal Recessive, Type Iiib	Cutis laxa, Fine hair, Excessive wrinkled skin, Thin skin, Sparse hair, Dermal translucency	OMIM:614438
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Anhidrosis, Hypohidrosis, Aplasia of the sweat glands, Sparse hair, Dry skin	OMIM:612132
Short Syndrome	Sparse hair, Excessive wrinkled skin, Alopecia	ORPHA:3163
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair, Dermal atrophy	OMIM:608612
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Small nail, Cafe-au-lait spot	ORPHA:166035
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair	OMIM:620001
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse hair, Curly hair, Synophrys, Sparse eyebrow	OMIM:620075
Xp22.13P22.2 Duplication Syndrome	Sparse hair, High anterior hairline	ORPHA:284180
Macs Syndrome	Alopecia, Redundant skin, Sparse eyebrow, Cutis laxa, Sparse hair	OMIM:613075
Gomez-Lopez-Hernandez Syndrome	Alopecia	OMIM:601853
Ane Syndrome	Hyperpigmented nevi, Alopecia	ORPHA:157954
Fanconi Anemia, Complementation Group S	Sparse hair, Long eyelashes, Low anterior hairline	OMIM:617883
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Sparse hair, Nail dystrophy, Hypohidrosis	ORPHA:98813
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sparse hair, Fine hair	OMIM:616817
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Bartsocas-Papas Syndrome	Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Erythem...	ORPHA:464
Gapo Syndrome	Skin tags, Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented skin patches	ORPHA:2067
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Nail dystrophy, Nail dysplasia	OMIM:175500
Leprosy	Urticarial plaque, Absent eyebrow, Alopecia, Hypopigmented macule, Skin nodule, Loss of eyelashes...	ORPHA:548
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Hypohidrosis, Nevus, Sparse hair	OMIM:613451
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Psoriasiform lesion	ORPHA:169154
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection	OMIM:158310
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Dry skin, Hypoplast...	OMIM:103285
Braddock-Carey Syndrome 1	Sparse hair, Curly hair	OMIM:619980
Cutis Laxa, Autosomal Recessive, Type Iiia	Sparse hair, Thin skin, Cutis laxa	OMIM:219150
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Sparse body hair	ORPHA:2234
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia	OMIM:617763
Hemochromatosis, Type 1	Alopecia	OMIM:235200
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,...	ORPHA:35173
Chikungunya	Skin vesicle, Erythema, Petechiae, Macule	ORPHA:324625
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow	OMIM:190351
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails	ORPHA:77258
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Sparse hair, Dry skin, Aplasia cutis congenita ...	OMIM:613026
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:617988
Adrenoleukodystrophy	Alopecia	OMIM:300100
Noonan Syndrome 14	Curly hair, Sparse eyebrow, Low posterior hairline, Hyperhidrosis, Sparse hair, Dry skin	OMIM:619745
Onychotrichodysplasia And Neutropenia	Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo...	OMIM:258360
Polyendocrine-Polyneuropathy Syndrome	Alopecia	ORPHA:453533
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Sparse hair, Synophrys, Low anterior hairline, Fine hair	ORPHA:391408
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail...	OMIM:106260
Hawkinsinuria	Sparse hair	OMIM:140350
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp...	OMIM:190350
Gapo Syndrome	Alopecia, Sparse eyelashes, Epidermoid cyst, Redundant skin, Sparse eyebrow, Hypoplastic nipples,...	OMIM:230740
Joubert Syndrome 37	Sparse hair	OMIM:619185
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Aplasia cutis congenita on trunk or limbs, Alopecia, Erythema, Atrophic scars, Nail dystrophy, Ap...	ORPHA:79396
Scarf Syndrome	Sparse hair, Hypoplastic nipples, Cutis laxa, Low posterior hairline	ORPHA:3134
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline, Cafe-au-lait spot	OMIM:250410
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair	OMIM:614105
Distal Deletion 19P	Keloids, Alopecia, Thick eyebrow	ORPHA:96129
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Hyperconvex nail	OMIM:619721
Cranioectodermal Dysplasia 3	Short nail, Broad nail, Cutis laxa, Fine hair, Sparse hair, Dry skin	OMIM:614099
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D...	ORPHA:275
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair	OMIM:618253
Immunodeficiency, Common Variable, 10	Trachyonychia, Alopecia totalis	OMIM:615577
Subcorneal Pustular Dermatosis	Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma...	ORPHA:48377
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Redundant skin, Abnormal eyelash morphology, Low posterior hairl...	ORPHA:1340
Borjeson-Forssman-Lehmann Syndrome	Sparse hair, Thick eyebrow	ORPHA:127
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Thick hair, Redundant skin, Cutis laxa, Excessive wrinkled skin, Coarse hair...	ORPHA:357074
Chromosome 5P13 Duplication Syndrome	Sparse hair, Low posterior hairline	OMIM:613174
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Erythema, Nail dystrophy, Periungual erythema, Sparse hair	OMIM:615934
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia	ORPHA:412057
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:268400
Ruijs-Aalfs Syndrome	Premature graying of hair, Sparse hair	OMIM:616200
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno...	ORPHA:85410
Encephalocraniocutaneous Lipomatosis	Alopecia, Nevus psiloliparus	OMIM:613001
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,...	ORPHA:158687
Agel Amyloidosis	Cutis laxa, Nail dystrophy, Sparse hair, Dry skin, Diffuse skin atrophy	ORPHA:85448
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hypohidrosis, Hyperconv...	ORPHA:1071
Limb-Mammary Syndrome	Alopecia, Absent nipple, Sparse eyebrow, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasi...	ORPHA:69085
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair, Atrophic scars, Cutis laxa, Dermal translucency	OMIM:615349
Johanson-Blizzard Syndrome	Alopecia, Abnormal hair pattern	ORPHA:2315
Autosomal Dominant Hypocalcemia	Alopecia, Dry skin, Abnormal fingernail morphology, Abnormality of the nail	ORPHA:428
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail	OMIM:268130
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia	OMIM:304790
Focal Dermal Hypoplasia	Macule, Alopecia, Aplasia/Hypoplasia of the skin, Skin nodule, Subcutaneous nodule, Erythema, Thi...	ORPHA:2092
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, R...	ORPHA:331235
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Dermal atrophy, Sparse h...	ORPHA:2108
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Nail dystrophy	OMIM:620040
Scarf Syndrome	Low anterior hairline, Cutis laxa, Low posterior hairline, Hypoplastic nipples, Sparse hair	OMIM:312830
Holocarboxylase Synthetase Deficiency	Alopecia	OMIM:253270
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Nail dystrophy, Alopecia universalis	OMIM:240300
Phakomatosis Pigmentokeratotica	Melanocytic nevus, Linear nevus sebaceous, Hyperhidrosis, Patchy alopecia, Blue nevus, Nevus spilus	ORPHA:2874
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia	ORPHA:93160
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo...	ORPHA:2232
Progeria-Short Stature-Pigmented Nevi Syndrome	Hyperpigmented nevi, Alopecia, Low posterior hairline	ORPHA:2959
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Thin skin, Sparse hair, Der...	OMIM:612199
46,Xy Sex Reversal 6	Hirsutism, Sparse axillary hair	OMIM:613762
Ablepharon Macrostomia Syndrome	Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fine hair, Excessive wri...	ORPHA:920
Giant Cell Arteritis	Alopecia, Skin ulcer, Hyperhidrosis	ORPHA:397
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Coarse hair	OMIM:118650
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Dry skin	OMIM:614008
Aredyld Syndrome	Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Patchy alopecia, Scaling skin, Alopecia universalis	OMIM:606367
Xeroderma Pigmentosum	Macule, Alopecia, Hypermelanotic macule, Erythema, Hypopigmented skin patches, Melanocytic nevus,...	ORPHA:910
Systemic Sclerosis	Alopecia, Nail bed telangiectasia, Cutaneous sclerotic plaque, Digital pitting scar, Spotty hypop...	ORPHA:90291
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Premature skin wrinklin...	ORPHA:363618
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair	OMIM:250250
Kid Syndrome	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Skin nodule, Hypohidrosis, Trichile...	ORPHA:477
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Hirsutism, Striae distensae	ORPHA:189427
Linear Nevus Sebaceus Syndrome	Alopecia, Melanocytic nevus	ORPHA:2612
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair	OMIM:614091
Mogs-Cdg	Alopecia, Fair hair, Long eyelashes, Hirsutism	ORPHA:79330
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Loss of eyelashes, Atypical scarring of skin, Hypertrichosis	OMIM:263700
Mixed Connective Tissue Disease	Alopecia, Purpura	ORPHA:809
Juvenile Dermatomyositis	Alopecia, Dry skin, Erythema, Skin ulcer	ORPHA:93672
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Preauricular pit, Curly hair, Dermal translucency, Slow-growing hair, Highly arched eyebrow, Low ...	OMIM:617506
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Cholangitis, Cholecystitis, Decreased circulating IgG level, Psoriasiform derm...	ORPHA:183675
Immunodeficiency 7	Patchy alopecia	OMIM:615387
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia	OMIM:210210
Localized Scleroderma	Abnormal skin adnexa morphology, Cutaneous sclerotic plaque, Localized skin lesion, Erythema, Hyp...	ORPHA:90289
Omenn Syndrome	Alopecia	OMIM:603554
Osteogenesis Imperfecta, Type Xx	Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow	OMIM:618644
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse hair, Nevus flammeus of the forehead	OMIM:616449
Marshall Syndrome	Sparse hair, Sparse eyelashes, Sparse eyebrow, Hypohidrosis	ORPHA:560
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Aplasia of the eccrine sweat glands	OMIM:300291
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:399180
Hamamy Syndrome	Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Preauricular skin tag, Abn...	OMIM:611174
Mandibuloacral Dysplasia With Type A Lipodystrophy	Sparse scalp hair, Alopecia, Dermal atrophy, Onychogryposis	OMIM:248370
Ectodermal Dysplasia-Skin Fragility Syndrome	Hypohidrosis, Scaling skin, Nail dystrophy, Sparse hair, Alopecia universalis	ORPHA:158668
Glass Syndrome	Sparse hair, Long eyelashes, Thin skin, Nail dysplasia	OMIM:612313
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Numerous nevi, Slow-growing hair, Absent eyelashes, Low posterior hai...	OMIM:115150
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Exces...	OMIM:601358
Naxos Disease	Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S...	OMIM:601214
Biotinidase Deficiency	Alopecia	OMIM:253260
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair	ORPHA:3068
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse hair, Patchy alopecia, Sparse eyelashes, Sparse eyebrow	OMIM:302960
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Fine hair, Hypohidrosis, Patchy alopecia, Breast aplasia...	OMIM:181270
Encephalocraniocutaneous Lipomatosis	Alopecia, Abnormal eyelash morphology, Subcutaneous nodule, Xanthomatosis, Nevus flammeus	ORPHA:2396
Pediatric Systemic Lupus Erythematosus	Alopecia	ORPHA:93552
Classical-Like Ehlers-Danlos Syndrome Type 2	Sacral dimple, Alopecia, Widened atrophic scar, Redundant skin, Piezogenic pedal papules	ORPHA:536532
Mosaic Variegated Aneuploidy Syndrome 2	Sparse hair, Cafe-au-lait spot, Epidermoid cyst	OMIM:614114
Rheumatoid Arthritis	Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join...	OMIM:180300
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis	OMIM:618775
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Epidermal nevus, Erythema, Small nail, Nevus	OMIM:308050
Alstrom Syndrome	Alopecia	OMIM:203800
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Long eyelashes, Thin eyebrow, ...	OMIM:615485
Thymoma	Myositis, Autoimmunity, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, Glomer...	ORPHA:99867
Congenital Disorder Of Glycosylation, Type Iia	Sparse hair, Thick eyebrow, Long eyelashes, Hirsutism	OMIM:212066
Nablus Mask-Like Facial Syndrome	Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,...	OMIM:608156
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Sparse eyelashes, Fine hair	OMIM:257850
Rothmund-Thomson Syndrome	Aplasia/Hypoplasia of the skin, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, N...	ORPHA:2909
Kikuchi-Fujimoto Disease	Macule, Erythematous macule, Alopecia, Skin nodule, Erythema, Skin erosion, Skin plaque, Papule	ORPHA:50918
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Bartsocas-Papas Syndrome 1	Skin tags, Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Dry s...	OMIM:263650
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Hirsutism	ORPHA:90795
Weaver Syndrome	Deep-set nails, Thin nail, Cutis laxa, Fine hair, Melanocytic nevus, Sparse hair	OMIM:277590
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis	OMIM:277440
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, Multiple lentigines, Sparse hai...	OMIM:607721
Neutral Lipid Storage Disease With Ichthyosis	Alopecia	ORPHA:98907
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis	ORPHA:79099
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Lip pit, Coarse hair, Sparse hair, Dry skin, Milia	ORPHA:2750
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis	OMIM:270150
Celiac Disease, Susceptibility To, 1	Alopecia	OMIM:212750
Premature Aging Syndrome, Penttinen Type	Skin nodule, Thin skin, Dermal atrophy, Sparse hair, Keloids	OMIM:601812
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Dermal atrophy, Sparse hair, Dry ...	OMIM:234100
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Cafe-au-lait spot, Trichorrhexis n...	OMIM:222470
H Syndrome	Abnormal eyebrow morphology, Alopecia, Hypertrichosis	ORPHA:168569
Bone Marrow Failure Syndrome 3	Hypomelanotic macule, Nail dystrophy, Small nail, Sparse hair, Aplasia/Hypoplasia of the eyebrow	OMIM:617052
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Synophrys, Sparse hair, Aplasia cutis congenita, Toenail dysplasia, Hirsutism	OMIM:300966
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Nail dystrophy, Alopecia, Abnormality of the periungual region, Alopecia totalis	ORPHA:293978
Intellectual Developmental Disorder, Autosomal Dominant 54	Sparse hair, Anhidrosis, Dry skin, Thin nail	OMIM:617799
De Barsy Syndrome	Cutis laxa, Excessive wrinkled skin, Thin skin, Sparse hair, Dermal translucency	ORPHA:2962
Opitz-Kaveggia Syndrome	Skin tags, Sacral dimple, Facial wrinkling, Fine hair, Frontal upsweep of hair, Sparse hair	OMIM:305450
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Sparse eyelashes, Pterygium of nails, Hyperhidrosis, Premature...	OMIM:305000
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal hair morphology, Abnor...	ORPHA:79474
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia	OMIM:269200
Leigh Syndrome	Alopecia, Frontal hirsutism, Hypertrichosis	ORPHA:506
Sympathetic Ophthalmia	Alopecia, Erythema, Poliosis	ORPHA:79098
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Sparse ha...	ORPHA:2710
Rothmund-Thomson Syndrome Type 1	Alopecia totalis, Facial erythema, Sparse or absent eyelashes, Dermal atrophy, Nail dysplasia, Sp...	ORPHA:221008
Behcet Syndrome	Erythema, Patchy alopecia	OMIM:109650
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Sparse hair	OMIM:615508
Rothmund-Thomson Syndrome Type 2	Alopecia totalis, Erythema, Facial erythema, Sparse or absent eyelashes, Dermal atrophy, Nail dys...	ORPHA:221016
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
Down Syndrome	Sparse hair	ORPHA:870
Teebi-Shaltout Syndrome	Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair	OMIM:272950
Goldberg-Shprintzen Syndrome	Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow	OMIM:609460
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,...	ORPHA:2273
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Redundant skin, Absent eyelashes, Hypoplastic nipples, Thin skin, Sparse hair, Pr...	OMIM:200110
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair, Milia	OMIM:311200
Biotinidase Deficiency	Alopecia	ORPHA:79241
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Sparse hair, Brittle hair, Fine hair	OMIM:618891
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Perianal erythema, Absent ...	OMIM:308205
Kaufman Oculocerebrofacial Syndrome	Sparse hair, Preauricular skin tag, Thin skin, Sparse eyebrow	OMIM:244450
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Sparse hair, Nail dysplasia, Breast hypoplasia, Small nail	OMIM:614813
Monosomy 22	Sparse hair, Synophrys, Hyperhidrosis	ORPHA:96123
Stuve-Wiedemann Syndrome 1	Hyperhidrosis, Thin skin, Sparse hair, Premature skin wrinkling, Milia	OMIM:601559
Scalp-Ear-Nipple Syndrome	Sparse hair, Breast aplasia, Abnormal fingernail morphology, Hypohidrosis	ORPHA:2036
Colchicine Poisoning	Alopecia	ORPHA:31824
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Sparse hair, Fine hair	ORPHA:251028
Relapsing Polychondritis	Macule, Alopecia, Erythema, Purpura	ORPHA:728
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Highly arched eyebrow, Fine hair, Low posterior hairline, Sparse hair, Cafe-au-lait spot	OMIM:613563
Adams-Oliver Syndrome 1	Aplasia cutis congenita on trunk or limbs, Alopecia, Supernumerary nipple, Aplasia cutis congenit...	OMIM:100300
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Skin erosion, Paronychia, Skin plaque, Nail dystrophy, Aplasia cutis congenita, Anonych...	ORPHA:79404
White-Sutton Syndrome	Sparse hair	OMIM:616364
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails	OMIM:164200
Short Stature, Microcephaly, And Endocrine Dysfunction	Sparse hair	OMIM:616541
Combined Immunodeficiency-Enteropathy Spectrum	Sparse hair, Absent eyebrow, Alopecia of scalp, Nail dystrophy	ORPHA:436252
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai...	OMIM:129900
Menkes Disease	Hypopigmentation of hair, Atypical scarring of skin, Sparse hair, Woolly hair, Dry skin	ORPHA:565
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th...	ORPHA:227990
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	OMIM:607812
Cockayne Syndrome B	Anhidrosis, Dry hair, Abnormal hair morphology, Atypical scarring of skin, Dermal atrophy, Sparse...	OMIM:133540
Chime Syndrome	Sparse hair, Erythema, Skin ulcer, Fine hair	ORPHA:3474
Autosomal Recessive Robinow Syndrome	Sacral dimple, Alopecia, Long eyelashes, Fingernail dysplasia, Nevus flammeus	ORPHA:1507
Lysinuric Protein Intolerance	Sparse hair, Cutis laxa, Fine hair	OMIM:222700
Autosomal Dominant Robinow Syndrome	Alopecia, Sacral dimple, Curly eyelashes, Naevus flammeus of the eyelid, Long eyelashes, Fingerna...	ORPHA:3107
Cerebellar-Facial-Dental Syndrome	Sparse hair, Sparse eyebrow, Fine hair	ORPHA:444072
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th...	ORPHA:227982
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Nail dystrophy	ORPHA:37042
Woodhouse-Sakati Syndrome	Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Osteolysis, Rh...	ORPHA:100026
Insulin-Resistance Syndrome Type B	Alopecia, Hirsutism	ORPHA:2298
Felty Syndrome	Rheumatoid arthritis	OMIM:134750
Normosmic Congenital Hypogonadotropic Hypogonadism	Sparse body hair, Breast hypoplasia	ORPHA:432
Myasthenia Gravis	Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a...	ORPHA:589
Marshall-Smith Syndrome	Brittle hair, Highly arched eyebrow, Synophrys, Melanocytic nevus, Sparse hair, Thick eyebrow, Hy...	OMIM:602535
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:264090
Phosphoribosylpyrophosphate Synthetase Superactivity	Sparse hair	OMIM:300661
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Lenz-Majewski Hyperostotic Dwarfism	Sparse hair, Thin skin, Cutis laxa	OMIM:151050
Cockayne Syndrome A	Anhidrosis, Dry hair, Atypical scarring of skin, Sparse hair, Dry skin	OMIM:216400
Restrictive Dermopathy	Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Sparse or absent eye...	ORPHA:1662
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Fine hair, Hypoplastic nipples, Sparse hair, Dry skin, Sparse lateral eyebrow	OMIM:280000
Koolen-De Vries Syndrome Due To A Point Mutation	Sacral dimple, Alopecia, Numerous nevi, Cafe-au-lait spot, Fair hair	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Sacral dimple, Alopecia, Numerous nevi, Cafe-au-lait spot, Fair hair	ORPHA:363958
Cartilage-Hair Hypoplasia	Sparse hair, Sacral dimple, Sparse eyebrow	ORPHA:175
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l...	OMIM:607944
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair	OMIM:619934
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Sparse hair, Preauricular skin tag, Nail dysplasia	OMIM:616682
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Thick eyebrow, Redundant skin in infancy, Dry skin, Cutis laxa, Hyperhidrosis,...	OMIM:150230
Ring Chromosome 13 Syndrome	Alopecia, Cafe-au-lait spot	ORPHA:96176
Costello Syndrome	Deep-set nails, Curly hair, Redundant neck skin, Thin nail, Concave nail, Nevus, Sparse hair, Fra...	OMIM:218040
Cranioectodermal Dysplasia 1	Slow-growing hair, Short nail, Thin nail, Fine hair, Sparse hair	OMIM:218330
Branchiooculofacial Syndrome	Preauricular pit, Supernumerary nipple, Lower lip pit, Dermoid cyst, Low posterior hairline, Prem...	OMIM:113620
Mucolipidosis Ii Alpha/Beta	Sparse eyebrow, Brittle hair, Sparse hair	OMIM:252500
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Preauricular pit, Absent nipple, Sparse eyebrow, Hypoplastic nipples, Small nail, Nail dystrophy,...	OMIM:620186
Systemic Lupus Erythematosus	Alopecia	ORPHA:536
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sacral dimple, Redundant neck skin, Sparse hair, Preauricular skin tag, Frontal hirsutism	OMIM:617157
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Facial wrinkling, Thin skin, Sparse hair, Dry skin	OMIM:606721
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Hypoplastic toena...	ORPHA:99413
Turner Syndrome	Alopecia, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Hypoplastic toena...	ORPHA:881
Mosaic Monosomy X	Alopecia, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Hypoplastic toena...	ORPHA:99228
Monosomy X	Alopecia, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Hypoplastic toena...	ORPHA:99226
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Supernumerary nipple, Focal dermal aplasia/hypoplasia, Patchy alopecia...	OMIM:305600
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia	OMIM:619321
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Alopecia totalis, Hypermelanotic macule, Loss of eyelashes, Lack of skin elastici...	ORPHA:740
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow	ORPHA:2636
Cranioectodermal Dysplasia 2	Sparse hair, Sparse eyelashes, Sparse eyebrow, Cutis laxa	OMIM:613610
Igg4-Related Retroperitoneal Fibrosis	Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular inflammatory infilt...	ORPHA:49041
Neurocardiofaciodigital Syndrome	Sparse hair, Sparse eyebrow	OMIM:619869
Wrinkly Skin Syndrome	Redundant skin, Short nail, Neonatal wrinkled skin of hands and feet, Palmoplantar cutis laxa, Sp...	OMIM:278250
Chilton-Okur-Chung Neurodevelopmental Syndrome	Sparse scalp hair, Highly arched eyebrow, Sparse eyebrow, Synophrys, Low anterior hairline, Long ...	OMIM:619841
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Sparse hair	OMIM:620005
Myhre Syndrome	Sparse hair, Thick eyebrow, Fine hair	OMIM:139210
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Sparse pubic hair, Sparse body hair, Sparse axillary hair	ORPHA:90796
Bloom Syndrome	Paronychia, Patchy alopecia, Sparse eyelashes, Cafe-au-lait spot	ORPHA:125
Mandibuloacral Dysplasia Progeroid Syndrome	Sparse hair, Nail dystrophy, Sparse eyebrow	OMIM:619127
Vascular Ehlers-Danlos Syndrome	Macule, Alopecia, Redundant skin, Abnormality of hair texture, Abnormal eyelash morphology, Subcu...	ORPHA:286
Wrinkly Skin Syndrome	Sparse hair, Excessive wrinkled skin, Excessive skin wrinkling on dorsum of hands and fingers, Cu...	ORPHA:2834
Roberts Syndrome	Sparse hair	ORPHA:3103
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Dry skin	OMIM:210710
Steinert Myotonic Dystrophy	Early balding, Alopecia	ORPHA:273
Sarcoidosis	Skin nodule, Alopecia, Subcutaneous nodule, Skin plaque	ORPHA:797
Renpenning Syndrome 1	Sparse hair, Brittle hair, Sparse lateral eyebrow	OMIM:309500
African Trypanosomiasis	Erythematous macule, Alopecia	ORPHA:3385
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Dermal translucency, Synophrys, Thin skin, Sparse hair, Premature skin wrinkli...	ORPHA:3455
Congenital Tricuspid Stenosis	Rheumatoid arthritis, Bacterial endocarditis	ORPHA:95459
Menke-Hennekam Syndrome 1	Sparse hair, Long eyelashes, Thick eyebrow	OMIM:618332
Viss Syndrome	Sparse scalp hair, Alopecia, Hirsutism, Cutis laxa	OMIM:619472
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sacral dimple, Sparse eyelashes, Anhidrosis, Supernumerary nipple, S...	OMIM:601803
Primrose Syndrome	Sparse scalp hair, Absent facial hair, Synophrys, Absent axillary hair, Dystrophic fingernails, S...	OMIM:259050
Roberts-Sc Phocomelia Syndrome	Sparse hair, Cafe-au-lait spot	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^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ksr1^{tm11(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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