Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
serum/glucocorticoid regulated kinase 3
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Sgk3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Sgk3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair OMIM:617252
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Atrichia With Papular Lesions
Generalized papillary lesions, Sparse hair OMIM:209500
Hypotrichosis 1
Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey... OMIM:605389
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Hypotrichosis 3
Sparse scalp hair OMIM:613981
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Hypotrichosis 7
Woolly hair, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes OMIM:604379
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Thin toenail, Hair-nail ectodermal dysplasia, Alopecia, Dystrophic toenail OMIM:614928
Witkop Syndrome
Nail pits, Small nail, Sparse hair, Ridged nail, Concave nail, Fine hair OMIM:189500
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Cerebellar Ataxia And Ectodermal Dysplasia
Ectodermal dysplasia, Sparse hair, Alopecia OMIM:212835
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Congenital alopecia totalis, Fingernail dysplasia, Palmoplantar hyperke... ORPHA:1010
Ectodermal Dysplasia 9, Hair/Nail Type
Atrichia, Sparse hair, Absent eyelashes, Ectodermal dysplasia, Nail dysplasia, Concave nail, Abse... OMIM:614931
Uncombable Hair Syndrome 1
Pili canaliculi, Uncombable hair, Dry hair OMIM:191480
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Sparse scalp hair, Sparse pubic hair, Alopecia, Perifollicular hyperkeratosis ORPHA:505
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Palmoplantar keratoderma, Sparse and thin eyebrow, Alopecia, S... ORPHA:2722
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal hair morphology, Coarse hair, Slow-growing hair, Woolly hair OMIM:194300
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Hypotrichosis 5
Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes OMIM:612841
Alopecia Areata 2
Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:610753
Aredyld
Ectodermal dysplasia, Generalized hypotrichosis OMIM:207780
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Alopecia Areata 1
Nail pits, Trachyonychia, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:104000
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Perifolliculitis, Alopecia OMIM:260910
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Periodontitis, Congenital alopecia totalis, Alopecia universalis OMIM:104130
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Coarse hair, Sparse and thin eyebrow, Brittle hair, Sparse eyelashes OMIM:234030
Monilethrix
Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy OMIM:158000
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Alopecia Universalis
Absent eyelashes, Patchy alopecia, Alopecia universalis, Absent eyebrow ORPHA:701
Ectodermal Dysplasia 5, Hair/Nail Type
Sparse scalp hair, Absent toenail, Hair-nail ectodermal dysplasia, Dystrophic fingernails OMIM:614927
Marie Unna Hereditary Hypotrichosis
Coarse hair, Sparse scalp hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of the e... ORPHA:444
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Trichodysplasia-Xeroderma
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Sparse and thin eyebrow, Sparse body hair, Woolly hair, Woolly sc... OMIM:616099
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Diffuse palmoplantar hyperkeratosis, Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body... OMIM:617294
Ichthyosis, Congenital, Autosomal Recessive 11
Hypohidrosis, Sparse hair, Hyperkeratosis, Curly hair, Sparse and thin eyebrow, Brittle hair, Pil... OMIM:602400
Candidiasis, Familial, 1
Chronic mucocutaneous candidiasis, Alopecia OMIM:114580
Kerion Celsi
Recurrent skin infections, Recurrent cutaneous abscess formation, Alopecia, Inflammatory abnormal... ORPHA:499
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair, Dry skin OMIM:617073
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Absent eyebrow, Brittle hair, Alopecia, Congenital onychodystrophy... OMIM:602032
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Abnormality of the nail, Abnormal hair morphology, Absent eyebrow, Sparse axillary hair, Sparse s... ORPHA:1808
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Hypotrichosis 12
Sparse hair, Dry hair, Slow-growing hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the e... OMIM:615885
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Ectodermal Dysplasia 7, Hair/Nail Type
Onycholysis, Sparse hair, Sparse and thin eyebrow, Brittle hair, Alopecia, Dystrophic toenail, Dy... OMIM:614929
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Naxos Disease
Palmoplantar keratoderma, Curly hair, Sparse scalp hair, Hyperhidrosis, Abnormality of hair textu... ORPHA:34217
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Sabinas Brittle Hair Syndrome
Sparse hair, Dry hair, Nail dysplasia, Brittle hair, Nail dystrophy OMIM:211390
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Onychogryposis of toenails, Sparse hair, Dry hair OMIM:164680
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Pili Torti
Abnormal eyebrow morphology, Abnormality of the nail, Brittle hair, Alopecia, Abnormality of hair... ORPHA:2889
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Cardiofaciocutaneous Syndrome 2
Fine hair, Curly hair, Sparse hair, Absent eyebrow OMIM:615278
L-Ferritin Deficiency
Alopecia OMIM:615604
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Transgrediens Et Progrediens Palmoplantar Keratoderma
Generalized hyperkeratosis, Thin fingernail, Palmoplantar keratoderma, Hyperhidrosis, Alopecia ORPHA:495
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Ulerythema Ophryogenesis
Follicular hyperkeratosis, Abnormal eyebrow morphology, Alopecia, Inflammatory abnormality of the... ORPHA:3406
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Ectodermal dysplasia, Sparse hair OMIM:129810
Carvajal Syndrome
Woolly hair, Patchy palmoplantar hyperkeratosis ORPHA:65282
Monilethrix
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... ORPHA:573
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Periodontitis, Sparse scalp hair, Alopecia universalis, Sparse body ... ORPHA:1008
Pili Torti, Early-Onset
Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei... OMIM:261900
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Sparse hair OMIM:272980
Oculotrichodysplasia
Trichodysplasia, Generalized hypotrichosis, Scaling skin, Sparse axillary hair, Sparse scalp hair... OMIM:257960
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Crandall Syndrome
Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair, Pili torti ORPHA:202
Trichodental Dysplasia
Fine hair, Brittle hair, Sparse hair, Slow-growing hair OMIM:601453
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Fine hair, Abnorma... ORPHA:248
Trichothiodystrophy 7, Nonphotosensitive
Follicular hyperkeratosis, Brittle hair, Tiger tail banding OMIM:618546
Quinquaud Folliculitis Decalvans
Pustule, Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia, Recurrent skin in... ORPHA:346
Hypotrichosis 6
Sparse hair, Sparse and thin eyebrow, Brittle hair, Pili torti, Sparse eyelashes OMIM:607903
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Hypohidrosis, Sparse hair, Slow-growing hair, Nail dysplasia, Sparse and thin eyebrow, Fine hair,... OMIM:129490
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Anhidrosis, Palmoplantar hyperkeratosis, Dystrophic toenail OMIM:619209
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Premature skin wrinkling OMIM:614434
Anonychia With Flexural Pigmentation
Anonychia, Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis ORPHA:69125
Moynahan Syndrome
Hyperkeratosis, Sparse hair, Alopecia ORPHA:2574
Palmoplantar Keratoderma And Congenital Alopecia 1
Sparse eyebrow, Sparse hair, Palmoplantar keratoderma, Leukonychia, Epidermal hyperkeratosis, Nai... OMIM:104100
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Pseudopelade Of Brocq
Abnormality of the nail, Abnormal hair morphology, Cheilitis, Sparse scalp hair, Alopecia, Aplasi... ORPHA:129
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse hair, Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Ab... ORPHA:1818
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Ridged nail, Alopecia, Nail dystrophy OMIM:601705
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Alopecia of scalp ORPHA:79129
Deafness-Craniofacial Syndrome
Alopecia OMIM:125230
Ectodermal Dysplasia/Skin Fragility Syndrome
Sparse hair, Ectodermal dysplasia, Scaling skin, Fragile skin, Dystrophic fingernails OMIM:604536
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Thoracic hypertrichosis, Anterior cervical hypertrichosis, Lumbar hypertri... OMIM:117850
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Periorbital wrinkles, Partial duplication of eyebrows, Long eyelashes OMIM:227210
Dermatoleukodystrophy
Progeroid facial appearance, Premature skin wrinkling OMIM:221790
Ectodermal Dysplasia-Syndactyly Syndrome 1
Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Palmar hyperkeratosis, Sparse ... OMIM:613573
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Widow's peak, Atopic dermatitis, Thick eyebrow, Sparse hair OMIM:606242
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Olmsted Syndrome 1
Sparse hair, Palmoplantar keratoderma, Nail dysplasia, Subungual hyperkeratosis, Hyperhidrosis, A... OMIM:614594
Proliferating Trichilemmal Cyst
Sparse scalp hair, Skin ulcer ORPHA:492
Choroidal Atrophy-Alopecia Syndrome
Sparse hair, Ungual fibroma, Sparse or absent eyelashes, Abnormal toenail morphology, Supernumera... ORPHA:1433
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair, Palmoplantar keratoderma OMIM:610476
Schopf-Schulz-Passarge Syndrome
Small nail, Sparse hair, Poroma, Onycholysis, Palmoplantar keratoderma, Ridged nail, Apocrine hid... OMIM:224750
Rothmund-Thomson Syndrome, Type 1
Sparse hair, Absent eyelashes, Hyperkeratosis, Recurrent otitis media, Absent eyebrow, Thin nail,... OMIM:618625
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypohidrosis, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Dystrophic toenail, Dystrophi... ORPHA:1882
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Sparse hair, Absent lower eyelashes, Distichiasis, Aged leonine appearance OMIM:227260
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Sparse hair, Palmoplantar keratoderma, Ridged fingernail, Fingernai... ORPHA:2251
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair, Hyperhidrosis OMIM:615279
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Palmar hyperkeratosis, Nail dysplasia, Alopecia, Plantar hyperkeratosis, N... ORPHA:79397
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Elastoderma
Cutis laxa, Premature skin wrinkling ORPHA:228240
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Sparse hair, Alopecia OMIM:616353
Pili Torti-Onychodysplasia Syndrome
Trichodysplasia, Absent eyelashes, Congenital onychodystrophy, Palmoplantar keratoderma, Absent e... ORPHA:2890
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Hypohidrosis, Sparse hair, Abnormal fingernail morphology ORPHA:1810
Skin Fragility-Woolly Hair Syndrome
Palmoplantar keratosis with erythema and scale, Acantholysis, Nail dysplasia, Sparse and thin eye... OMIM:607655
Ectodermal Dysplasia-Syndactyly Syndrome 2
Follicular hyperkeratosis, Hyperhidrosis, Sparse hair, Palmoplantar keratoderma OMIM:613576
Copper Deficiency, Familial Benign
Curly hair, Early balding, Abnormal circulating copper concentration, Decreased circulating coppe... OMIM:121270
Dermoodontodysplasia
Trichodysplasia, Hypohidrosis, Fingernail dysplasia, Sparse scalp hair, Toenail dysplasia, Sparse... ORPHA:1660
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse hair, Leukonychia, Sparse axillary hair, Sparse scalp hair, Sparse body ha... OMIM:613102
Onychotrichodysplasia And Neutropenia
Short eyelashes, Curly hair, Sparse pubic hair, Concave nail, Hypoplastic fingernail, Curly eyela... OMIM:258360
Palmoplantar Keratoderma And Congenital Alopecia 2
Hyperkeratosis, Nail dysplasia, Alopecia totalis, Nail dystrophy, Palmoplantar hyperkeratosis OMIM:212360
Clouston Syndrome
Small nail, Onycholysis, Palmoplantar hyperkeratosis, Absent pubic hair, Absent axillary hair, Sl... OMIM:129500
Erythrokeratodermia Variabilis Et Progressiva 2
Hypertrichosis, Erythema OMIM:617524
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Hypohidrosis, Erysipelas, Alopecia OMIM:615704
Bazex Syndrome
Hypohidrosis, Atopic dermatitis, Acne inversa, Sparse hair, Coarse hair, Trichoepithelioma, Eczem... OMIM:301845
Bjornstad Syndrome
Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei... OMIM:262000
Porphyria Cutanea Tarda
Onycholysis, Alopecia, Facial hypertrichosis OMIM:176100
Dwarfism, Familial, With Muscle Spasms
Sparse scalp hair, Brittle scalp hair, Fine hair OMIM:600771
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Hyperbilirubinemia, Polyphagia, Red hair OMIM:609734
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis, Sparse scalp hair, Brittle hair, Fine hair, Pili torti ORPHA:1573
Pilodental Dysplasia With Refractive Errors
Brittle scalp hair, Abnormality of the nail, Sparse scalp hair, Follicular hyperkeratosis, Brittl... OMIM:262020
Oliver-Mcfarlane Syndrome
Long eyelashes, Long eyebrows, Sparse hair, Alopecia OMIM:275400
Trichoodontoonychial Dysplasia With Bone Deficiency
Sparse hair, Ectodermal dysplasia, Nail dysplasia, Supernumerary nipple, Nail dystrophy OMIM:275450
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia OMIM:614564
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Palmoplantar keratoderma, Alopecia OMIM:618373
Congenital Non-Bullous Ichthyosiform Erythroderma
Hypohidrosis, Abnormality of the nail, Palmoplantar keratoderma, Erythroderma, Keratitis, Alopecia ORPHA:79394
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Hypohidrosis, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Syndromic X-Linked Intellectual Disability 7
Sparse body hair ORPHA:85274
Focal Facial Dermal Dysplasia Type I
Low anterior hairline, Sparse hair, Absent eyelashes, Sparse lateral eyebrow, Distichiasis ORPHA:79133
Acrogeria
Prematurely aged appearance, Telangiectasia of the skin, Excessive wrinkled skin, Fine hair, Skin... ORPHA:2500
Olmsted Syndrome, X-Linked
Posterior blepharitis, Palmoplantar keratoderma, Hyperkeratosis, Subungual hyperkeratosis, Alopec... OMIM:300918
Bazex-Dupré-Christol Syndrome
Sparse hair, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Sparse or absent eyelashes,... ORPHA:113
Erythrokeratodermia Variabilis
Skin rash, Abnormality of the nail, Patchy palmoplantar hyperkeratosis, Abnormal hair morphology,... ORPHA:317
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the nail, Hypoplastic toenails, Thin toenail, Ridged fingernail, Hypoplastic finge... ORPHA:2228
Leopard Syndrome 3
Hyperkeratosis, Curly hair, Low posterior hairline, Epidermal hyperkeratosis OMIM:613707
Olmsted Syndrome 2
Sparse hair, Palmoplantar keratoderma, Hyperkeratosis, Alopecia universalis, Parakeratosis, Wooll... OMIM:619208
Rosselli-Gulienetti Syndrome
Hypohidrosis, Nail dysplasia, Sparse and thin eyebrow, Progressive hypotrichosis, Sparse eyelashes OMIM:225000
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Hypohidrosis, Slow-growing hair, Sparse eyelashes OMIM:618535
Pachyonychia Congenita 2
Palmoplantar hyperhidrosis, Dry hair, Sparse scalp hair, Nail dysplasia, Subungual hyperkeratosis... OMIM:167210
Hidrotic Ectodermal Dysplasia, Halal Type
Trichodysplasia, Absent eyelashes, Absent eyebrow, Sparse scalp hair, Nail dysplasia, Follicular ... ORPHA:1809
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia of scalp, Alopecia OMIM:136300
Ichthyosis, Congenital, Autosomal Recessive 2
Hypohidrosis, Small nail, Abnormal hair morphology, Palmoplantar keratoderma, Hyperkeratosis, Thi... OMIM:242100
Keratoderma Hereditarium Mutilans
Abnormality of the nail, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Alopecia, Abnorma... ORPHA:494
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Hypoplastic toenails, Sparse eyebrow, Sparse hair, Sparse eyelashes OMIM:616901
Trichohepatoenteric Syndrome 2
Sparse hair, Uncombable hair, Colitis, Decreased serum iron, Diarrhea, Brittle hair, Pili canalic... OMIM:614602
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Erythroderma, Nail dysplasia, Alopecia, Parakeratosis, Nail dystrophy, Palmoplantar ... OMIM:242300
Schöpf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Bathing Suit Ichthyosis
Hypohidrosis, Sparse hair, Erythroderma, Alopecia, Parakeratosis, Nail dystrophy, Palmoplantar hy... ORPHA:100976
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Palmoplantar keratoderma, Scarring alopecia of scalp, Nail dysplasia, Conjunctiviti... OMIM:612843
Autosomal Dominant Cutis Laxa
Cutis laxa, Redundant skin, Prematurely aged appearance, Premature skin wrinkling ORPHA:90348
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Alopecia, Chronic mucocutaneous candid... OMIM:618282
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Palmoplantar hyperkeratosis, Nail dysplasia, Sparse and thin eyebrow, Brittle hair, Abnormality o... OMIM:225060
Mental Retardation, Autosomal Dominant 34
Curly hair, Coarse hair, Synophrys OMIM:616351
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Red hair ORPHA:71526
Leopard Syndrome 2
Curly hair OMIM:611554
Intermediate Generalized Junctional Epidermolysis Bullosa
Anonychia, Palmoplantar keratoderma, Scarring alopecia of scalp, Sparse body hair, Nail dystrophy ORPHA:79402
Peeling Skin Syndrome 1
Onycholysis, Brittle hair, Abnormality of hair texture OMIM:270300
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant
Sparse scalp hair, Hypohidrosis OMIM:605827
Hawkinsinuria
Fine hair, Sparse hair ORPHA:2118
Pseudoprogeria Syndrome
Sparse hair, Absent eyelashes, Absent eyebrow, Sparse and thin eyebrow, Alopecia ORPHA:2985
Noonan Syndrome 6
Curly hair, Low posterior hairline, Sparse hair, Long eyebrows OMIM:613224
Granddad Syndrome
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Abnormal hair morphology OMIM:138920
Trichothiodystrophy 2, Photosensitive
Brittle hair, Coarse hair, Tiger tail banding OMIM:616390
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Coarse hair OMIM:248010
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Abnormality of the nail, Insulin resistance, Hypoglycemia, Type II diabetes... ORPHA:181393
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Classic Mycosis Fungoides
Skin rash, Abnormality of the nail, Hyperkeratosis, Alopecia, Eczema ORPHA:2584
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Naxos Disease
Onycholysis, Acantholysis, Palmoplantar keratoderma, Curly hair, Sparse and thin eyebrow, Sparse ... OMIM:601214
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse pubic hair, Sparse axillary hair OMIM:146110
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Nail dysplasia, Thick eyebrow, Facial hirsutism, Curly eyelashes, Low posterior hairl... ORPHA:163654
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Anhidrosis, Sparse hair, Absent nipple OMIM:614940
Alopecia-Intellectual Disability Syndrome
Sparse body hair, Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Hidrotic Ectodermal Dysplasia
Onycholysis, Sparse hair, Palmoplantar keratoderma, Hyperconvex nail, Sparse axillary hair, Abnor... ORPHA:189
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Palmoplantar keratoderma, Hyperkeratosis, Leukonychia, Parakeratosis, Woolly hair, Nail dystrophy... OMIM:615821
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Recurrent sinusitis, Chronic atrophic gastritis, Alopecia, Recurrent pneumonia, R... OMIM:616576
Noonan Syndrome 7
Dysphagia, Curly hair, Low posterior hairline, Impaired oropharyngeal swallow response OMIM:613706
Pachyonychia Congenita
Onychogryposis of fingernail, Palmoplantar hyperhidrosis, Palmoplantar keratoderma, Angular cheil... ORPHA:2309
Odontoonychodermal Dysplasia
Hypohidrosis, Palmoplantar hyperhidrosis, Dry hair, Sparse hair, Anonychia, Sparse scalp hair, Na... OMIM:257980
Noonan Syndrome 8
Hyperkeratosis, Curly hair OMIM:615355
Alopecia Antibody Deficiency
Sparse body hair, Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1006
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Polyphagia ORPHA:177910
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Alopecia OMIM:617763
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis, Coarse hair, Brittle hair, Sparse hair ORPHA:1883
Progeroid Syndrome, Petty Type
Prematurely aged appearance, Abnormality of the nail, Sparse hair, Abnormal hair morphology, Redu... ORPHA:2963
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia OMIM:612079
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Prematurely aged appearance, Sparse hair, Redundant skin, Sparse lateral e... ORPHA:1807
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Abnormality of the nail, Sparse and thin eyebrow, Alopecia, Sparse eyelashes OMIM:129540
Lichen Planopilaris
Onycholysis, Hyperkeratosis, Hepatitis, Alopecia, Abnormal fingernail morphology ORPHA:525
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Smith-Kingsmore Syndrome
Curly hair, Hypoglycemia OMIM:616638
Noonan Syndrome 5
Curly hair, Small nail, Sparse eyebrow, Fine hair OMIM:611553
Ectodermal Dysplasia, Trichoodontoonychial Type
Ectodermal dysplasia, Absent nipple, Sparse hair OMIM:129510
Noonan Syndrome 9
Curly hair, Sparse eyebrow OMIM:616559
Coffin-Siris Syndrome 3
Sparse hair, Hirsutism, Long eyelashes, Sparse scalp hair, Thick eyebrow, Hypertrichosis OMIM:614608
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair OMIM:617360
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Sparse hair, Thick hair, Cholangitis, Alopecia, Parakeratosis, Orthokeratosis, Sparse eyelashes OMIM:607626
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Xq27.3Q28 Duplication Syndrome
Sparse body hair ORPHA:261483
Trichohepatoenteric Syndrome 1
Sparse hair, Abnormality of iron homeostasis, Increased serum iron, Curly hair, Hypermethioninemi... OMIM:222470
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Palmoplantar keratoderma, Nail dystrophy ORPHA:1366
Filippi Syndrome
Sparse hair, Hypertrichosis, Frontal hirsutism OMIM:272440
Dermatopathia Pigmentosa Reticularis
Hypohidrosis, Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis OMIM:125595
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Alopecia-Mental Retardation Syndrome 4
Erythroderma, Alopecia OMIM:618840
Zinc Deficiency, Transient Neonatal
Eczema, Alopecia OMIM:608118
Bleeding Disorder, Platelet-Type, 21
Eczema, Psoriasiform dermatitis, Alopecia OMIM:617443
Hereditary Mucoepithelial Dysplasia
Fine hair, Hyperkeratosis, Sparse hair, Alopecia ORPHA:1839
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Hidrotic ectodermal dysplasia, Short eyelashes, Sparse axillary hair, Absent eyebrow, Fair hair, ... OMIM:601375
Eem Syndrome
Sparse scalp hair, Sparse body hair, Absent eyebrow ORPHA:1897
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Woolly hair, Palmoplantar keratoderma OMIM:605676
Frontonasal Dysplasia 2
Hypohidrosis, Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse eyelashes OMIM:613451
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Hypoplastic toenails, Fingernail dysplasia, Sparse scalp hair, Toenail dysplasia, Alopecia, Abnor... ORPHA:2325
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of ... ORPHA:2269
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Thick eyebrow, Coarse hair, Synophrys ORPHA:1021
Microcephalic Primordial Dwarfism, Montreal Type
Prematurely aged appearance, Abnormal hair quantity, Premature graying of hair, Alopecia of scalp... ORPHA:2617
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Neonatal hypoglycemia ORPHA:457485
Lelis Syndrome
Hypohidrosis, Yellow nails, Sparse hair, Sparse lateral eyebrow, Absent lower eyelashes, Abnormal... ORPHA:140936
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
Gand Syndrome
Sparse hair OMIM:615074
Amelo-Onycho-Hypohidrotic Syndrome
Hypohidrosis, Hypoplastic toenails, Onycholysis, Hyperkeratosis, Fine hair, Abnormal fingernail m... ORPHA:1028
Trichohepatoneurodevelopmental Syndrome
Curly hair, Gastroesophageal reflux, Chronic diarrhea, Coarse hair, Synophrys, Steatorrhea, Hypop... OMIM:618268
Cutis Laxa, Autosomal Recessive, Type Iiib
Dermal translucency, Sparse hair, Cutis laxa, Excessive wrinkled skin, Fine hair OMIM:614438
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Low posterior hairline, Absent facial hair ORPHA:2183
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Hypohidrosis, Sparse hair, Sparse and thin eyebrow, Anhidrosis, Sparse eyelashes OMIM:224900
2Q23.1 Microdeletion Syndrome
Highly arched eyebrow, Polyphagia, Constipation, Synophrys, Generalized hirsutism ORPHA:228402
Tooth Agenesis, Selective, 4
Short eyelashes, Sparse eyebrow, Sparse hair, Dry skin OMIM:150400
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Polyphagia ORPHA:411515
Microphthalmia, Syndromic 8
Premature skin wrinkling OMIM:601349
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormality of the nail, Sparse hair, Absent eyelashes, Absent eyebrow, Toenail dysplasia, Alopecia OMIM:607823
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers ORPHA:498359
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Sparse hair, Hirsutism, Long eyelashes, Thick eyebrow OMIM:616819
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Palmoplantar hyperhidrosis, Sparse hair, Palmoplantar keratoderma, Alopecia, Anhidrosis, Abnormal... ORPHA:659
Transaldolase Deficiency
Telangiectasia, Premature skin wrinkling ORPHA:101028
Ichthyosis With Confetti
Hyperkeratosis, Erythroderma, Hypertrichosis, Palmoplantar hyperkeratosis OMIM:609165
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Polyphagia, Hypoketotic hypoglycemia, Incre... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pol... ORPHA:276575
Hypervitaminosis A, Susceptibility To
Alopecia totalis OMIM:240150
Cutis Laxa, Autosomal Dominant 1
Redundant skin, Prematurely aged appearance, Progeroid facial appearance OMIM:123700
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Sparse hair, Ectodermal dysplasia, Hypoplastic nipples, Sparse scalp hair, Dry ski... OMIM:614941
Trichothiodystrophy 3, Photosensitive
Brittle hair, Tiger tail banding OMIM:616395
Type 1 Diabetes Mellitus
Polyphagia, Diabetes mellitus, Hyperglycemia, Polydipsia, Decreased level of 1,5 anhydroglucitol ... OMIM:222100
Lessel-Kubisch Syndrome
Sparse pubic hair, Premature graying of hair OMIM:618681
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair, Acantholysis, Palmoplantar keratoderma, Erythroderma, Recurrent skin infections, Pso... OMIM:615508
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Excessive skin wrinkling on dorsum of hands and fingers OMIM:608763
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Sparse hair, Nail dysplasia, Concave nail, Brittle hair, Abnormality of hair texture,... OMIM:234050
Alpha-Heavy Chain Disease
Alopecia ORPHA:100025
Blepharocheilodontic Syndrome 1
High anterior hairline, Small nail, Sparse hair, Distichiasis OMIM:119580
Ifap Syndrome 2
Posterior blepharitis, Atrichia, Sparse hair, Angular cheilitis, Keratitis, Keratoconjunctivitis ... OMIM:619016
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Constipation, Sparse hair OMIM:273390
Trichothiodystrophy 5, Nonphotosensitive
Sparse hair, Progeroid facial appearance, Tiger tail banding, Slow-growing hair, Cutis marmorata,... OMIM:300953
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Sparse hair, Long eyelashes, Alopecia, Curly eyelashes, Eczema, Abnormal h... ORPHA:3051
Centrifugal Lipodystrophy
Lymphadenitis, Alopecia, Inflammatory abnormality of the skin ORPHA:90156
Acquired Partial Lipodystrophy
Generalized hirsutism, Progeroid facial appearance ORPHA:79087
Hereditary Bullous Dystrophy, Macular Type
Congenital abnormal hair pattern, Atrichia, Pneumonia, Alopecia, Nail dystrophy ORPHA:1867
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Abnormality of hair texture OMIM:601957
Myoclonic-Astatic Epilepsy
Frontal balding, Premature skin wrinkling ORPHA:1942
Johnson Neuroectodermal Syndrome
Hypohidrosis, Sparse hair, Absent eyelashes, Patent ductus arteriosus, Absent eyebrow, Alopecia OMIM:147770
Cronkhite-Canada Syndrome
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Patchy alopecia, Alopecia, Dystrophic fi... ORPHA:2930
Ectodermal Dysplasia And Immunodeficiency 2
Sparse hair, Hypohidrosis, Anhidrosis, Aplasia of the sweat glands OMIM:612132
Rhizomelic Chondrodysplasia Punctata
Sparse body hair, Alopecia ORPHA:177
Anauxetic Dysplasia 2
Nail dysplasia, Small nail, Sparse hair OMIM:617396
Cerebellofaciodental Syndrome
Fine hair, Sparse and thin eyebrow, Sparse hair OMIM:616202
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Scarring alopecia of scalp, Sparse scalp hair, Sparse and thin eyebrow, Sparse body hair, Sparse ... ORPHA:59303
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Long eyelashes, Postnatal growth retardation, Hypoglycemia, Fine hair ORPHA:231137
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Alopecia ORPHA:50812
Hypomelanosis Of Ito
Alopecia OMIM:300337
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Chronic diarrhea, Generalized hirsutism, F... ORPHA:2221
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hypohidrosis, Highly arched eyebrow, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Synophrys, N... ORPHA:3253
Noonan Syndrome 4
Curly hair, Sparse eyebrow, High anterior hairline OMIM:610733
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Neonatal hypoglycemia, Polyphagia, Long eyelashes OMIM:606407
Fibrodysplasia Ossificans Progressiva
Alopecia ORPHA:337
Tetrasomy 12P
Hypohidrosis, Sparse and thin eyebrow, Sparse hair ORPHA:884
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Johnson Neuroectodermal Syndrome
Hypohidrosis, Sparse hair, Absent eyelashes, Absent eyebrow, Alopecia ORPHA:2316
Lamellar Ichthyosis
Abnormality of the nail, Sparse hair, Hyperkeratosis, Erythroderma, Chronic otitis media, Aplasia... ORPHA:313
Ectodermal Dysplasia-Blindness Syndrome
Hypohidrosis, Sparse hair, Hyperkeratosis, Keratoconjunctivitis sicca, Fine hair, Abnormal finger... ORPHA:1806
Localized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Sparse axillary hair, Sparse pubic hair, Fragile skin, Dystrophic toe... ORPHA:251393
Oligodontia-Colorectal Cancer Syndrome
Short eyelashes, Sparse axillary hair, Absent eyebrow, Sparse scalp hair, Sparse body hair OMIM:608615
Cataract, Aberrant Oral Frenula, And Growth Retardation
Curly hair OMIM:115645
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair, Postnatal growth retardation ORPHA:2324
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Conjunctivitis, Alopecia, Fragile nails OMIM:242150
Progeroid Facial Appearance With Hand Anomalies
Prominent superficial veins, Reduced subcutaneous adipose tissue, Progeroid facial appearance, Sp... OMIM:602249
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Polyphagia, Type II diabetes mellitus ORPHA:71529
Cardiofaciocutaneous Syndrome 1
Sparse hair, Absent eyelashes, Curly hair, Constipation, Gastroesophageal reflux, Absent eyebrow,... OMIM:115150
Mental Retardation, Autosomal Recessive 5
Sparse hair, Postnatal growth retardation, Synophrys, Thick eyebrow, Elevated circulating creatin... OMIM:611091
Papillon-Lefèvre Syndrome
Generalized hirsutism, Severe periodontitis, Pustule, Abnormality of the nail, Palmoplantar hyper... ORPHA:678
Autoimmune Polyendocrinopathy Type 2
Hashimoto thyroiditis, Alopecia ORPHA:3143
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
X-Linked Dominant Chondrodysplasia Punctata
Scarring alopecia of scalp, Abnormal fingernail morphology, Abnormality of hair texture ORPHA:35173
Cutis Laxa, Autosomal Dominant 3
Cutis laxa, Premature skin wrinkling OMIM:616603
Menkes Disease
Sparse hair OMIM:309400
Oculodentodigital Dysplasia
Abnormality of the nail, Sparse hair, Curly hair, Hypoglycemia, Slow-growing hair, Brittle hair, ... ORPHA:2710
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Sparse hair OMIM:183849
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Anonychia, Absent fingernail, Alopecia totalis, Alopecia universalis OMIM:609638
Sézary Syndrome
Nail dystrophy, Palmoplantar keratoderma, Erythroderma, Alopecia ORPHA:3162
Lmna-Related Cardiocutaneous Progeria Syndrome
Sparse hair, Absent eyelashes, Premature graying of hair, Premature skin wrinkling, Absent eyebro... ORPHA:363618
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia OMIM:215100
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyelashes, Absent eyebrow, Sparse scalp hair, Alopecia, Sparse body hair ORPHA:69735
6Q16 Microdeletion Syndrome
Thick eyebrow, Polyphagia ORPHA:171829
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Sparse hair, Absent pubic hair, Absent axillary hair, Hypoplastic nipples, Distichiasis, Fine hai... OMIM:211370
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Pili canaliculi, Uncombable hair OMIM:191482
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Hemifacial Atrophy, Progressive
Poliosis, Patchy alopecia OMIM:141300
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse hair, Absent eyelashes, Epidermal hyperkeratosis, Absent eyebrow, Membranoproliferative gl... OMIM:137940
Multiple Carboxylase Deficiency
Skin rash, Alopecia ORPHA:148
Rapp-Hodgkin Syndrome
Decreased number of sweat glands, Hypohidrosis, Small nail, Sparse hair, Recurrent otitis media, ... OMIM:129400
Netherton Syndrome
Brittle scalp hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Parakeratosis OMIM:256500
Holocarboxylase Synthetase Deficiency
Keratoconjunctivitis, Eczema, Perioral eczema, Alopecia ORPHA:79242
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hypohidrosis, Sparse hair, Hyperkeratosis, Alopecia, Abnormal toenail morphology ORPHA:1005
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, Sparse hair, Curly hair, High anterior hairline, Slow-growing hair, Chroni... OMIM:617506
Trichothiodystrophy 6, Nonphotosensitive
Brittle hair, Tiger tail banding, Slow-growing hair OMIM:616943
Rodrigues Blindness
Fine hair, Sparse hair OMIM:268320
X-Linked Agammaglobulinemia
Skin rash, Chronic otitis media, Sinusitis, Conjunctivitis, Hepatitis, Recurrent cutaneous absces... ORPHA:47
Weaver Syndrome
Hypoplastic toenails, Deep-set nails, Thin nail, Fine hair, Abnormal fingernail morphology ORPHA:3447
Man1B1-Cdg
Abnormal position of hair whorl, Sparse eyebrow, Polyphagia, Long eyelashes, Long eyebrows ORPHA:397941
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus, Brittle ... OMIM:608612
Schaaf-Yang Syndrome
Thick eyebrow, Gastroesophageal reflux, Constipation, Polyphagia OMIM:615547
Satoyoshi Syndrome
Alopecia universalis, Alopecia OMIM:600705
Pigmented Nodular Adrenocortical Disease, Primary, 4
Acne, Hirsutism, Alopecia OMIM:615830
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Hirsutism, Sparse hair OMIM:618087
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic nipples, Small nail, Sparse hair OMIM:273400
Mucopolysaccharidosis, Type Iiia
Hirsutism, Diarrhea, Coarse hair, Synophrys OMIM:252900
Desbuquois Syndrome
Abnormal eyelash morphology, Sparse hair ORPHA:1425
Androgen Insensitivity Syndrome
Sparse pubic hair, Sparse axillary hair, Absent facial hair OMIM:300068
Acrofacial Dysostosis, Palagonia Type
Low anterior hairline, Sparse hair, Sparse lateral eyebrow, Thin eyebrow, Pili torti, Sparse eyel... ORPHA:1787
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypohidrosis, Absent eyelashes, Erythroderma, Absent eyebrow, Nail dysplasia, Follicular hyperker... OMIM:308205
Cranioectodermal Dysplasia
Abnormal toenail morphology, Sparse hair, Abnormal fingernail morphology ORPHA:1515
Trichothiodystrophy 1, Photosensitive
Small nail, Sparse hair, Hyperkeratosis, Tiger tail banding, Brittle hair, Abnormality of hair te... OMIM:601675
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Recurrent sinusitis, Membranous nephropathy, Alopecia, Arthritis OMIM:615559
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Progeroid facial appearance, Sparse axillary hair OMIM:608154
Ataxia-Telangiectasia
Hypopigmentation of hair, Prematurely aged appearance, Premature graying of hair, Telangiectasia ... ORPHA:100
Noonan Syndrome 10
Hyperkeratosis, Curly hair, Sparse eyebrow OMIM:616564
Kid Syndrome
Hypohidrosis, Hypoplastic toenails, Generalized hyperkeratosis, Sparse hair, Aplasia/Hypoplasia o... ORPHA:477
Craniofrontonasal Dysplasia
Widow's peak, Ridged fingernail, Abnormality of hair texture, Woolly hair, Low posterior hairline ORPHA:1520
Noonan Syndrome 2
Hyperkeratosis, Curly hair, Low posterior hairline, Sparse eyebrow OMIM:605275
Renpenning Syndrome
Abnormal hair laboratory examination, Thin eyebrow, Alopecia ORPHA:3242
Cebalid Syndrome
Highly arched eyebrow, Thick eyebrow, Polyphagia OMIM:618774
Keutel Syndrome
Recurrent otitis media, Recurrent sinusitis, Alopecia ORPHA:85202
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Sparse hair, Hyperkeratosis, Curly hair, Long eyelashes, Sparse scalp hair, Loose anagen hair OMIM:607721
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Nail dystrophy, Brittle hair, Coarse hair, Alopecia ORPHA:75389
Abnormal Hair, Joint Laxity, And Developmental Delay
Small nail, Recurrent otitis media, Sparse lateral eyebrow, Alopecia, Trichorrhexis nodosa, Pili ... OMIM:261990
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Absent eyelashes, Anonychia, Palmoplantar keratoderma, Hyperconvex nail, Conjunctivitis, Blephari... OMIM:106260
Temple Syndrome
Recurrent hypoglycemia, Postnatal growth retardation, Polyphagia, Type II diabetes mellitus ORPHA:254516
Cardiocranial Syndrome, Pfeiffer Type
Sparse hair, Abnormal hair whorl ORPHA:2872
Mucopolysaccharidosis, Type Iiic
Dysphagia, Hirsutism, Coarse hair, Synophrys, Diarrhea OMIM:252930
Mandibuloacral Dysplasia
Hypercholesterolemia, Sparse hair, Hyperinsulinemia, Insulin resistance, Glucose intolerance, Ins... ORPHA:2457
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Hypoplastic fingernail, Alopecia ORPHA:257
Microcephalic Primordial Dwarfism, Montreal Type
Alopecia of scalp, Excessive wrinkling of palmar skin, Premature graying of hair OMIM:210700
2Q32Q33 Microdeletion Syndrome
Fine hair, Sparse hair ORPHA:251019
Mcdonough Syndrome
Hypoplastic toenails, Sparse hair, Synophrys OMIM:248950
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Polyphagia ORPHA:329249
Spinocerebellar Ataxia With Dysmorphism
Coarse hair OMIM:271270
Chand Syndrome
Nail dysplasia, Hypohidrosis, Curly hair ORPHA:1401
Mucopolysaccharidosis, Type Iiid
Dysphagia, Hirsutism, Coarse hair, Synophrys, Thick eyebrow, Diarrhea OMIM:252940
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Polyphagia ORPHA:369873
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair OMIM:300869
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia OMIM:618406
Immunodeficiency, Common Variable, 10
Trachyonychia, Recurrent otitis media, Recurrent sinusitis, Alopecia totalis, Recurrent pneumonia... OMIM:615577
Chondrodysplasia Punctata, Autosomal Dominant
Hyperkeratosis with erythema, Coarse hair, Sparse hair OMIM:118650
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Hypoplastic toenails, Thick hair, Curly hair, Constipation, Gastroesophage... ORPHA:444077
Trichodermodysplasia-Dental Alterations Syndrome
Palmoplantar keratoderma, Sparse scalp hair, Sparse lateral eyebrow, Sparse or absent eyelashes, ... ORPHA:3353
Fanconi Anemia, Complementation Group S
Low anterior hairline, Long eyelashes, Sparse hair OMIM:617883
Adult Syndrome
Nail pits, Abnormality of the nail, Absent nipple, Breast hypoplasia, Fingernail dysplasia, Hypop... ORPHA:978
Even-Plus Syndrome
Highly arched eyebrow, Atopic dermatitis, Sparse hair, Synophrys OMIM:616854
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Premature graying of hair, Sparse scalp hair, Excessive wri... ORPHA:3322
Autoimmune Polyendocrinopathy Type 1
Chronic mucocutaneous candidiasis, Alopecia, Abnormal fingernail morphology ORPHA:3453
Omenn Syndrome
Erythroderma, Pneumonia, Alopecia OMIM:603554
Luscan-Lumish Syndrome
High anterior hairline, Hirsutism, Polyphagia OMIM:616831
Mucopolysaccharidosis, Type Iiib
Hirsutism, Diarrhea, Coarse hair, Synophrys OMIM:252920
Cerebrooculofacioskeletal Syndrome 2
Sparse hair OMIM:610756
Giant Axonal Neuropathy
Pili canaliculi, Woolly hair ORPHA:643
Premature Aging Syndrome, Penttinen Type
Hyperkeratosis, Sparse hair OMIM:601812
Flynn-Aird Syndrome
Alopecia ORPHA:2047
Mucoepithelial Dysplasia, Hereditary
Coarse hair, Pneumonia, Nail dysplasia, Chronic monilial nail infection, Alopecia, Recurrent pneu... OMIM:158310
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair OMIM:268020
Dyskeratosis Congenita, Autosomal Dominant 1
Nail pits, Sparse hair, Premature graying of hair, Interstitial pneumonitis, Ridged nail, Alopeci... OMIM:127550
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Erythroderma, Glomerulonephritis, Hepatitis, Alopecia, Eczema, Arthritis OMIM:304790
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair OMIM:615349
Werner Syndrome
Subcutaneous calcification, Progeroid facial appearance, Abnormal hair morphology OMIM:277700
Mandibulofacial Dysostosis With Alopecia
Sparse and thin eyebrow, Alopecia, Sparse eyelashes OMIM:616367
Thymoma
Skin rash, Pericarditis, Thyroiditis, Keratoconjunctivitis sicca, Alopecia, Myocarditis, Myositis... ORPHA:99867
Omenn Syndrome
Thyroiditis, Erythroderma, Pneumonia, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:39041
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thick eyebrow, Fine hair, Postnatal growth retardation OMIM:614800
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Short Syndrome
Premature skin wrinkling OMIM:269880
Cog5-Cdg
Abnormality of the frontal hairline, Premature skin wrinkling ORPHA:263487
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Sparse body hair ORPHA:2234
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Low anterior hairline, Sparse hair, Hypoglycemia, Synophrys, Severe postnatal growth retardation,... ORPHA:391408
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Macs Syndrome
Bronchiectasis, Sparse and thin eyebrow, Sparse hair, Alopecia OMIM:613075
Xp22.13P22.2 Duplication Syndrome
High anterior hairline, Sparse hair ORPHA:284180
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Incontinentia Pigmenti
Nail pits, Sparse hair, Breast hypoplasia, Hyperkeratosis, Ridged nail, Coarse hair, Breast aplas... OMIM:308300
Insulinoma
Hyperinsulinemic hypoglycemia, Polyphagia, Hyperinsulinemia, Fasting hyperinsulinemia, Nonketotic... ORPHA:97279
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal toenail morphology, Prematurely aged appearance, Low posterior hairline ORPHA:1387
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Uncombable hair, Aplasia/Hypoplasia of the eyebrow, Slow-growing hair ORPHA:3082
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair OMIM:616449
Acrodermatitis Enteropathica
Pustule, Abnormal eyebrow morphology, Abnormality of the nail, Ridged nail, Ridged fingernail, Pa... ORPHA:37
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Fine hair, Recurrent hypoglycemia, Sparse hair OMIM:616817
Secondary Short Bowel Syndrome
Low plasma citrulline, Polyphagia, Constipation, Steatorrhea, Abnormal blood ion concentration, D... ORPHA:95427
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Ogden Syndrome
Minimal subcutaneous fat, Facial wrinkling, Redundant skin, Cutis laxa, Long eyelashes, Sparse an... OMIM:300855
Trichotillomania
Alopecia OMIM:613229
Tonne-Kalscheuer Syndrome
Dysphagia, Small nail, Fine hair OMIM:300978
Leptin Deficiency Or Dysfunction
Abnormal eating behavior, Polyphagia OMIM:614962
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Iridocyclitis, Chronic oral candidiasis, Chronic active hepatitis, Chronic atrophic gastritis, Al... OMIM:240300
Graves Disease, Susceptibility To, 1
Onycholysis, Polyphagia OMIM:275000
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Supernumerary nipple, Alopecia ORPHA:3224
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Fine hair, Alopecia ORPHA:228390
Monosomy 18P
Low posterior hairline, Alopecia ORPHA:1598
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Prominent veins on trunk, Thick hair, Redundant skin, Cutis laxa, Abnormal subcutane... ORPHA:357074
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Trichorhinophalangeal Syndrome, Type Iii
Sparse lateral eyebrow, Sparse hair OMIM:190351
Intellectual Developmental Disorder, Autosomal Dominant 65
Thin eyebrow, Low posterior hairline, Sparse hair, Synophrys OMIM:619320
Trichorhinophalangeal Syndrome Type 1 And 3
Sparse hair, Leukonychia, Sparse and thin eyebrow, Fragile nails, Sparse eyelashes ORPHA:77258
Trisomy 18P
Highly arched eyebrow, Polyphagia ORPHA:1715
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Periungual erythema, Sparse hair, Malar rash, Pustular rash, Nailfold capilla... OMIM:615934
Huntington Disease
Choking episodes, Abnormal circulating cholesterol concentration, Polyphagia, Oral-pharyngeal dys... ORPHA:399
Ectodermal Dysplasia-Skin Fragility Syndrome
Hypohidrosis, Chapped lip, Sparse hair, Palmoplantar keratoderma, Cheilitis, Follicular hyperkera... ORPHA:158668
Bresek Syndrome
Alopecia ORPHA:85284
Distal Trisomy 6P
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity ORPHA:1745
Holocarboxylase Synthetase Deficiency
Skin rash, Alopecia OMIM:253270
Chromosome 5P13 Duplication Syndrome
Low posterior hairline, Sparse hair OMIM:613174
Androgen Insensitivity Syndrome
Sparse pubic hair, Absent pubic hair, Absent axillary hair, Sparse axillary hair ORPHA:754
Incontinentia Pigmenti
Skin rash, Abnormality of the nail, Abnormal hair morphology, Broad nail, Hyperkeratosis, Ridged ... ORPHA:464
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Progeroid facial appearance ORPHA:50811
Lethal Acantholytic Erosive Disorder
Absent toenail, Absent eyelashes, Acantholysis, Absent fingernail, Absent eyebrow, Absent hair, C... ORPHA:158687
Cartilage-Hair Hypoplasia
Sparse hair, Sparse facial hair, Fair hair, Sparse and thin eyebrow, Fine hair, Sparse eyelashes OMIM:250250
Netherton Syndrome
Abnormal hair morphology, Sparse scalp hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Fine ... ORPHA:634
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormality of the periungual region, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis... ORPHA:293978
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Hypohidrosis, Sparse hair, Hyperconvex nail, Coarse hair, Hyperconvex fingernails, Sparse and thi... ORPHA:1071
19Q13.11 Microdeletion Syndrome
Sparse hair, Nail dysplasia, Sparse lateral eyebrow, Sparse or absent eyelashes, Supernumerary ni... ORPHA:217346
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Brachycephaly, Trichomegaly, And Developmental Delay
Highly arched eyebrow, Long eyelashes, Synophrys, Thick eyebrow, Brittle hair OMIM:617412
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Coarse hair, Abnormality of hair texture OMIM:219200
Satoyoshi Syndrome
Sparse or absent eyelashes, Alopecia universalis, Abnormal hair morphology ORPHA:3130
Hall-Riggs Syndrome
Coarse hair, Thick hair, Slow-growing hair ORPHA:2107
Trichorhinophalangeal Syndrome, Type I
Sparse hair, Leukonychia, Slow-growing hair, Concave nail, Sparse lateral eyebrow, Thin nail, Thi... OMIM:190350
Short Syndrome
Excessive wrinkled skin, Sparse hair, Alopecia ORPHA:3163
Macrosomia Adiposa Congenita
Polyphagia OMIM:248100
Obesity, Hyperphagia, And Developmental Delay
Polyphagia OMIM:613886
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Nail dystrophy, Conjunctivitis, Alopecia OMIM:226600
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Aplasia/Hypoplastia of the eccrine sweat glands, Hypohidrosis, Absent nipple, Sparse hair, Absent... OMIM:305100
Fontaine Progeroid Syndrome
Low anterior hairline, Prematurely aged appearance, Absent nipple, Small nail, Anonychia, Dermal ... OMIM:612289
Argininosuccinic Aciduria
Hypoargininemia, Hyperglutaminemia, Dry hair, Brittle hair, Vomiting, Hyperammonemia, Trichorrhex... OMIM:207900
Mental Retardation, Autosomal Dominant 1
Highly arched eyebrow, Thick eyebrow, Polyphagia, Postnatal growth retardation OMIM:156200
Borjeson-Forssman-Lehmann Syndrome
Thick eyebrow, Sparse hair ORPHA:127
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Patchy alopecia ORPHA:85279
Leptin Receptor Deficiency
Abnormal eating behavior, Diabetes mellitus, Polyphagia OMIM:614963
Revesz Syndrome
Nail pits, Sparse hair, Ridged fingernail, Fine hair, Nail dystrophy OMIM:268130
Hemochromatosis, Type 1
Alopecia OMIM:235200
Nablus Mask-Like Facial Syndrome
Low anterior hairline, Highly arched eyebrow, Sparse hair, Hypoplastic nipples, Sparse and thin e... OMIM:608156
Biotinidase Deficiency
Skin rash, Seborrheic dermatitis, Conjunctivitis, Alopecia, Recurrent skin infections OMIM:253260
Mixed Connective Tissue Disease
Skin rash, Pericarditis, Keratoconjunctivitis sicca, Gastritis, Alopecia, Myocarditis, Myositis, ... ORPHA:809
Bartsocas-Papas Syndrome
Alopecia totalis, Hypoplastic toenails, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eye... ORPHA:1234
Zttk Syndrome
Curly hair, Chronic diarrhea, Sparse eyebrow, Broad eyebrow OMIM:617140
Gomez-Lopez-Hernandez Syndrome
Alopecia OMIM:601853
Costello Syndrome
Hypoplastic toenails, Abnormal hair morphology, Hyperkeratosis, Deep-set nails, Concave nail, Woo... ORPHA:3071
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Nail dystrophy, Alopecia OMIM:175500
Bardet-Biedl Syndrome 9
Hyperglycemia, Polydipsia, Polyphagia OMIM:615986
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Pancreatitis, Iridocyclitis, Alopecia ORPHA:412057
Pick Disease Of Brain
Polyphagia OMIM:172700
Pediatric Systemic Lupus Erythematosus
Skin rash, Discoid lupus rash, Malar rash, Alopecia, Myositis, Nephritis, Arthritis ORPHA:93552
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse hair, Erythroderma, Sparse and thin eyebrow, Alopecia, Sparse eyelashes OMIM:302960
Ectodermal Dysplasia And Immunodeficiency 1
Aplasia of the eccrine sweat glands, Sparse hair OMIM:300291
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Cutis laxa, Progeroid facial appearance, Sparse scalp hair, Sparse and thin eyebrow, Sparse eyela... ORPHA:75496
Costello Syndrome
Sparse hair, Deep-set nails, Curly hair, Hypoglycemia, Concave nail, Thin nail, Fragile nails OMIM:218040
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Brittle hair, Dry hair, Nail dystrophy ORPHA:93947
Satb2-Associ